National Cancer Institute®
Last Modified: April 1, 2002
UI - 11851625
AU - Miano R; Lee L; Mannion EM; Rustin GJ; Christmas TJ
TI - Mixed germ cell tumour arising from abdominal testicular tissue after apparent orchidectomy.
SO - BJU Int 2001 Dec;88(9):980-1
AD - Department of Urology, Charing Cross Hospital, London, UK.
UI - 11782038
AU - Steyerberg EW; Vergouwe Y; Keizer HJ; Habbema JD; ReHiT Study Group
TI - Residual mass histology in testicular cancer: development and validation of a clinical prediction rule.
SO - Stat Med 2001 Dec 30;20(24):3847-59
AD - Center for Clinical Decision Sciences, Department of Public Health, Erasmus Medical Center Rotterdam, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands. firstname.lastname@example.org
After chemotherapy for metastatic non-seminomatous testicular cancer, surgical resection is a generally accepted treatment to remove remnants of the initial metastases, since residual tumour may still be present (mature teratoma or viable cancer cells). In this paper, we review the development and external validation of a logistic regression model to predict the absence of residual tumour. Three sources of information were used. A quantitative review identified six relevant predictors from 19 published studies (996 resections). Second, a development data set included individual data of 544 patients from six centres. This data set was used to assess the predictive relationships of five continuous predictors, which resulted in dichotomization for two, and a log, square root, and linear transformation for three other predictors. The multiple logistic regression coefficients were reduced with a shrinkage factor (0.95) to improve calibration, based on a bootstrapping procedure. Third, a validation data set included 172 more recently treated patients. The model showed adequate calibration and good discrimination in the development and in the validation sample (areas under the ROC curve 0.83 and 0.82). This study illustrates that a careful modelling strategy may result in an adequate predictive model. Further study of model validity may stimulate application in clinical practice. Copyright 2001 John Wiley Sons, Ltd.
UI - 11857565
AU - Canto P; Soderlund D; Ramon G; Nishimura E; Mendez JP
TI - Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors.
SO - Am J Med Genet 2002 Mar 1;108(2):148-52
AD - Research Unit in Developmental Biology, Hospital de Pediatria, Centro Medico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico, D.F., Mexico.
Inactivating mutations of the luteinizing hormone receptor (LHR) gene in males induce Leydig cell agenesis or hypoplasia, while activating mutations cause testotoxicosis. Recently, it was demonstrated that a somatic heterozygous activating mutation of the LHR gene (Asp578His), limited to the tumor, was the cause of Leydig cell adenomas in three unrelated patients. We describe the molecular study of two unrelated boys with gonadotropin-independent hypersecretion of testosterone due to Leydig cell adenomas. Genomic DNA was extracted from the tumor, the adjacent normal testis tissue, and blood leukocytes. Both individuals exhibited an heterozygous missense mutation, limited only to the tumor, consisting of a guanine (G) to cytosine (C) substitution at codon 578 (GAT to CAT), turning aspartic acid into histidine. The presence of the same mutation in different ethnic groups demonstrates the existence of a mutational hot spot in the LHR gene. Indeed, this mutation occurs at the conserved aspartic acid residue at amino acid 578, where a substitution by glycine is the most common mutation observed in testotoxicosis and where a substitution by tyrosine has been linked to a more severe clinical phenotype where diffuse Leydig cell hyperplasia is found. Our results confirm the fact that somatic activating mutations of gonadotropin receptors are involved in gonadal tumorigenesis. Copyright 2002 Wiley-Liss, Inc.
UI - 11905918
AU - Dixon FJ; Moore RA
TI - Testicular tumors. A clinicopathological study. 1953.
SO - J Urol 2002 Feb;167(2 Pt 2):896-918; discussion 919
UI - 11905919
AU - Cooper JF; Leadbetter WF; Chute R
TI - The thoracoabdominal approach for retroperitoneal gland dissection: its application to testis tumors. 1950.
SO - J Urol 2002 Feb;167(2 Pt 2):920-6; discussion 927
UI - 11905920
AU - Einhorn LH; Donohue J
TI - Cis-diamminedichloroplatinum, vinblastine, and bleomycin combination chemotherapy in disseminated testicular cancer. 1997.
SO - J Urol 2002 Feb;167(2 Pt 2):928-32; discussion 933
UI - 11905921
AU - Perlin E; Engeler JE Jr; Edson M; Karp D; McIntire KR; Waldmann TA
TI - The value of serial measurement of both human chorionic gonadotropin and alpha-fetoprotein for monitoring germinal cell tumors. 1976.
SO - J Urol 2002 Feb;167(2 Pt 2):934-7; discussion 938
UI - 11889161
AU - Richter-Unruh A; Wessels HT; Menken U; Bergmann M; Schmittmann-Ohters K;
TI - Schaper J; Tappeser S; Hauffa BP Male LH-independent sexual precocity in a 3.5-year-old boy caused by a somatic activating mutation of the LH receptor in a Leydig cell tumor.
SO - J Clin Endocrinol Metab 2002 Mar;87(3):1052-6
AD - Department of Hematology/Oncology and Endocrinology, University Children's Hospital, 45122 Essen, Germany. email@example.com
We describe the clinical features of severe sexual precocity in a 3.5-yr-old boy. Hormonal evaluation showed LH-independent T hypersecretion. Initial examination of the adrenals and testes revealed no evidence of congenital adrenal hyperplasia, hCG- or androgen-secreting tumors, or McCune-Albright syndrome. In the coding sequence of the LH receptor gene no activating mutation was found. Spironolactone (5.7 mg/kg x d) and testolactone (40 mg/kg x d) were unsuccessful in suppressing the elevated concentration of T. To further determine the origin of the elevated serum T, a selective venous sampling procedure was planned. However before the sampling procedure, high resolution ultrasound examination showed a small tumor in the left testis, which was removed. Histology proved the tumor to be a Leydig cell adenoma. Sequencing of the tumor LH receptor gene revealed a heterozygous mutation in exon 11 encoding a replacement of aspartic acid at position 578 with histidine, which has been shown to be a constitutively activating mutation. These findings indicate that in male patients with gonadotropin-independent sexual precocity, the presence of small testicular Leydig cell tumors harboring a somatic mutation of the LH receptor gene should be considered.
UI - 11762823
AU - Karapetis CS; Strickland AH; Yip D; van der Walt JD; Harper PG
TI - PET and PLAP in suspected testicular cancer relapse: beware sarcoidosis.
SO - Ann Oncol 2001 Oct;12(10):1485-8
AD - Department of Medical Oncology, Guy's Hospital, London, UK.
A 31-year-old man previously treated with chemotherapy for metastatic testicular cancer presented with new mediastinal lymphadenopathy and peripheral lung opacities. Serum tumour markers were not elevated and a PET (positron emission tomography) scan revealed increased FDG (fluoro-deoxyglucose) uptake in the lungs and mediastinum consistent with testis cancer relapse. A biopsy of a mediastinal lymph node was performed and the pathology was that of sarcoidosis. Immunohistochemistry however was positive for PLAP (placental alkaline phosphatase) and negative for EMA (epithelial membrane antigen). This immunohistochemical profile raised concerns that the observed pathology represented a sarcoid reaction to micro-metastatic testicular cancer relapse. We performed immunohistochemical pathology analysis on four known cases of sarcoidosis and found the same immunohistochemical-staining pattern. This case highlights the problem of specificity when interpreting the significance of PET scans and immunohistochemical analysis in this situation. Sarcoidosis, a condition that has been associated with testicular cancer, should always be considered in the differential diagnosis.
UI - 11920527
AU - Hendry WF; Norman AR; Dearnaley DP; Fisher C; Nicholls J; Huddart RA;
TI - Horwich A Metastatic nonseminomatous germ cell tumors of the testis: results of elective and salvage surgery for patients with residual retroperitoneal masses.
SO - Cancer 2002 Mar 15;94(6):1668-76
AD - Academic Department of Urology, The Royal Marsden National Health Service Trust and Institute of Cancer Research, Sutton, Surrey, United Kingdom.
BACKGROUND: A mass may persist in the para-aortic region after patients undergo chemotherapy for metastatic, nonseminomatous germ cell tumor of the testis (NSGCT). Retroperitoneal lymphadenectomy removes the mass, which may contain residual active malignancy, and allows histologic assessment of the effectiveness of the chemotherapy. Whereas some have favored early, elective removal of such masses, others have chosen to observe them, reserving salvage surgery for patients who experience disease recurrence. A retrospective analysis was undertaken to define the outcome in these two groups of patients. METHODS: After receiving chemotherapy for metastatic NSGCT, 442 men underwent lymphadenectomy for residual masses (measuring > or = 1 cm in greatest dimension) between 1976 and 1999, inclusive. Three hundred thirty men underwent elective surgery within 3 months of the completion of chemotherapy, and 112 men underwent salvage surgery after receiving reinduction chemotherapy for tumor recurrence. RESULTS: The residual mass was removed completely in 87% and 72% of patients in the elective and salvage lymphadenectomy groups, respectively; was removed with difficulty and possibly incompletely in 9% and 21% of patients, respectively; and was definitely removed incompletely in 4% and 7% of patients, respectively. The operative mortality rate was 0.9% in the elective surgery group and 1.8% in the salvage surgery group. There was malignant teratoma, undifferentiated in 8.5% of patients in the elective surgery group and in 49% of patients in the salvage surgery group (P < 0.001). Differentiated teratoma and necrosis/fibrosis were present in 66.0% and 25.4% of patients in the elective surgery group, respectively, and in 38.4% and 12.5% of patients in the salvage surgery group, respectively. The authors were unable to produce a clinically useful model to predict the presence of necrosis/fibrosis only in either group. The 5-year recurrence free and overall survival rates were 83% and 89%, respectively, in the elective surgery group and 62% and 56%, respectively, in the salvage surgery group. For the salvage surgery group, the completeness of surgical excision and the presence of undifferentiated teratoma were of overriding importance for overall survival. A variety of other patient-related, tumor-related, and surgery-related factors also were significant in the final model for the elective surgery group. CONCLUSIONS: The current results demonstrate the low level of morbidity that can be obtained, even in the salvage surgery group, and the importance of complete surgical resection in this setting. Because it is not possible to predict with sufficient accuracy which patients will have favorable pathology (necrosis/fibrosis), the authors continue to recommend elective surgery for all suitable men with residual masses after they receive first-line chemotherapy. Copyright 2002 American Cancer Society.
UI - 11848466
AU - Chang A; Yousef GM; Jung K; Rajpert-De Meyts E; Diamandis EP
TI - Identification and molecular characterization of five novel kallikrein gene 13 (KLK13; KLK-L4) splice variants: differential expression in the human testis and testicular cancer.
SO - Anticancer Res 2001 Sep-Oct;21(5):3147-52
AD - Department of Pathology and Laboratoty Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.
The kallikrein gene family is comprised of genes that have either established or potential applications in prostate and breast cancer diagnostics. New members of the human kallikrein gene family have been recently identified. By using the positional candidate gene approach, we were able to clone a novel human serine protease gene that maps to chromosome 19q13.3-q13.4, the location of the kallikrein gene family. We named this gene KLK-L4 (now also known as KLK13). Here, we describe the identification of five new KLK-L4 splice variants which are not expressed in any other tissue except the human testis. We have further established that these splice variants can be detected in normal testis but not in the adjacent matched testicular tumors. In addition, differential expression of the KLK-L4 gene was found in various histological types of testicular cancer. Our results suggest that the KLK-L4 gene is expressed in normal and cancerous testicular tissue; however, its five variants are all expressed in normal tissue but not in testicular tumors. The physiological relevance of these variants and the implications of their differential expression between cancerous and normal tissues are currently unknown.
UI - 11842380
AU - Wang BY; Rabinowitz DS; Granato RC Sr; Unger PD
TI - Gonadal tumor with granulosa cell tumor features in an adult testis.
SO - Ann Diagn Pathol 2002 Feb;6(1):56-60
AD - Lilian and Henry M. Stratton-Hans Popper Department of Pathology, The Mount Sinai School of Medicine, The Mount Sinai Medical Center, New York, NY 10029, USA.
Granulosa cell tumor is almost exclusively an ovarian tumor. Rare cases of granulosa cell tumor have been reported involving the testes. We report a testicular gonadal stromal tumor with granulosa cell differentiation in a 54-year-old white man. The tumor was discovered by an ultrasound evaluation for left hydrocele. The patient was clinically asymptomatic. On frozen section, the initial impression was a malignant lymphoma. Final histology on the orchiectomy specimen showed a gonadal stromal tumor with granulosa cell features. Immunohistochemical studies excluded malignant lymphoma and germ cell tumors, consistent with a stromal tumor. This case report illustrates the challenges for the pathologist in making an accurate diagnosis in unusual testicular tumors. Copyright 2002 by W.B. Saunders Company
UI - 11733909
AU - Ciftci AO; Bingol-Kologlu M; Senocak ME; Tanyel FC; Buyukpamukcu M;
TI - Buyukpamukcu N Testicular tumors in children.
SO - J Pediatr Surg 2001 Dec;36(12):1796-801
AD - Departments of Pediatric Surgery and Pediatric Oncology, Hacettepe University Medical Faculty, Ankara, Turkey.
PURPOSE: The aim of this study was to present an updated picture of surgical management of pediatric testicular tumors based on our 30 years' experience, which consisted of one of the largest noncollected series treated in a single medical center. METHODS: Records of children who were treated for testicular tumor in our unit from 1970 to 1999, inclusive, were reviewed retrospectively. Information recorded for each patient included age, sex, past medical history, clinical characteristics, diagnostic procedures, treatment methods, histopathologic findings, and outcome. RESULTS: Fifty-one patients with a mean age of 3.8 +/- 0.5 years were treated for testicular tumors. Of these, 35 (69%) had germ cell testis tumor (GCT) and 16 (31%) had non-germ cell testis tumor (NGCT). Endodermal sinus tumor and paratesticular rhabdomyosarcoma were the dominant histologic subtypes in each group, respectively. The most common mode of presentation was painless scrotal mass. At initial presentation, retroperitoneal (n = 5), both retroperitoneal and lung (n = 2), and retroperitoneal and liver (n = 3) metastases were recorded in 10 (19%) patients. Initial operative procedures were radical inguinal orchiectomy (RIO) (n = 29), scrotal orchiectomy (SO; n = 9), bilateral RIO (n = 2), both RIO and unilateral retroperitoneal lymph node (RPLN) excision (n = 6), testis-sparing enucleation of the tumor (n = 5). SOs were performed elsewhere, and these patients underwent high ligation (n = 4) and both high ligation plus RPLN excision (n = 5) in our unit. Histopathologically, spermatic cord invasion and RPLN involvement were present in 10 patients. Scrotal recurrences were encountered in 2 patients who had scrotal orchiectomy initially. Retroperitoneal recurrences were noted in a patient presenting with stage I embryonal carcinoma and in 2 patients presenting with group IV paratesticular rhabdomyosarcoma. The mean follow-up period was 89 +/- 10 months. Four patients with stage IV embryonal carcinoma (n = 2) and group IV paratesticular rhabdomyosarcoma (n = 2) died of progression of the disease. All remaining patients were alive and disease free at their last outpatient appointment. No significant difference was noted with regard to 5-year survival rates between (1) malignant GCT and paratesticular rhabdomyosarcoma patients (91% v 80%) and (2) patients treated by RIO (88%), SO plus high ligation (87%), and RIO plus RPLN excision (80%). Five-year survival rates were 100% for stage I, II, III patients and 33.3% for stage IV and group IV patients presenting with malignant testicular tumors (P <.05). CONCLUSIONS: Childhood testicular tumors deserve special attention from the therapeutic point of the view. A solid scrotal mass should be considered malignant until proved otherwise. Any suspicion of the testicular tumor warrants an inguinal approach to prevent scrotal violation by the tumor. Current trends emphasize that testis-sparing surgery should be performed for benign lesions such as teratoma, leydig cell tumor, and epidermoid cyst based on frozen biopsy findings. Literature findings and our experience suggest that RIO is the accurate treatment for stage I malignant GCT and group I and IIa paratesticular rhabdomyosarcoma. RPLN excision is not of benefit either as a staging or therapeutic procedure in stage I and group I and IIa diseases of these tumors. RPLN excision should be reserved for (1) malignant GCT patients who have persistent elevation of alpha-fetoprotein after orchiectomy in the presence of normal total body CT scan, and for patients presenting with stage II and III disease with definitive abnormality on CT scans, and (2) group IIb, IIc, and III paratesticular rhabdomyosarcoma patients with radiologic evidence of retroperitoneal involvement on CT scans. High ligation should be done as a complementary procedure after SO to increase the survival rates. J Pediatr Surg 36:1796-1801. Copyright 2001 by W.B. Saunders Company.
UI - 11733935
AU - Trobs RB; Korholz D; Bennek J
TI - Outcome of paratesticular involvement in infants with neuroblastoma.
SO - J Pediatr Surg 2001 Dec;36(12):E23
AD - Department of Pediatric Surgery, University of Leipzig, Germany.
The authors report on 3 infants suffering from disseminated neuroblastoma (NB) involving the testes or paratesticular structures. INSS stage 4 in 2 cases, and "biological" INSS stage 4S were considered, respectively. One patient with a stage 4 NB died of tumor progression; one patient is under therapy. The patient with NB 4S was cured with preservation of both testes after antineoplastic chemotherapy and reduction of the retroperitoneal primary. J Pediatr Surg 36:E23. Copyright 2001 by W.B. Saunders Company.
UI - 11410198
AU - Levi F; La Vecchia C; Boyle P; Lucchini F; Negri E
TI - Western and eastern European trends in testicular cancer mortality.
SO - Lancet 2001 Jun 9;357(9271):1853-4
Testicular cancer is curable if treated appropriately. We used national mortality data to compare specific death rates from the disorder in western and eastern Europe, the USA, and Japan. Testicular cancer mortality rates have fallen by about 70% in the USA and western Europe since the 1970s. In eastern Europe, however, death rates from testicular cancer have been declining only since the late 1980s, and at a much slower rate than that recorded elsewhere (about 20%). Consequently, many avoidable deaths, mainly in young adults, are still occurring in eastern Europe. Available effective treatment strategies for testicular cancer must be implemented in these countries.
UI - 11896102
AU - Petersen PM; Giwercman A; Daugaard G; Rorth M; Petersen JH; Skakkeaek
TI - NE; Hansen SW; von der Maase H Effect of graded testicular doses of radiotherapy in patients treated for carcinoma-in-situ in the testis.
SO - J Clin Oncol 2002 Mar 15;20(6):1537-43
AD - Department of Growth & Reproduction, Finsencenter, Copenhagen University Hospital, Rigshospitalet, Copenhagen. firstname.lastname@example.org
PURPOSE: To determine the effect of radiotherapy in doses 14 to 20 Gy on eradication of carcinoma-in-situ (CIS) testis and on the Leydig cell function. PATIENTS AND METHODS: Forty-eight patients presented with unilateral testicular germ cell cancer and CIS of the contralateral testis. The CIS-bearing testis was treated with daily irradiation doses of 2 Gy, 5 days a week, to a cumulative dose of 20 Gy (21 patients), 18 Gy (three patients), 16 Gy (10 patients), and 14 Gy (14 patients). RESULTS: All patients treated at dose levels 20 Gy to 16 Gy achieved histologically verified complete remission without signs of recurrence of CIS after an observation period of more than 5 years. One of 14 patients treated at dose level 14 Gy had a relapse of CIS 20 months after irradiation. Leydig cell function was examined before and regularly after radiotherapy in 44 of 48 patients. The levels of testosterone were lower after radiotherapy than before. Testosterone showed a stable decrease for more than 5 years after treatment (3.6% per year) without dose dependency. The levels of luteinizing hormone and follicle-stimulating hormone were increased after radiotherapy. The need of androgen substitution therapy was similar at all dose levels. CONCLUSION: Testicular irradiation is a safe treatment at dose level 20 Gy (10 x 2 Gy). Decrease of dose to 14 Gy (7 x 2 Gy) might lead to risk of relapse of CIS. Impairment of hormone production without clinically significant dose dependency is seen in the dose range 14 to 20 Gy.
UI - 11896104
AU - Kersemaekers AM; Mayer F; Molier M; van Weeren PC; Oosterhuis JW;
TI - Bokemeyer C; Looijenga LH Role of P53 and MDM2 in treatment response of human germ cell tumors.
SO - J Clin Oncol 2002 Mar 15;20(6):1551-61
AD - Department of Pathology/Laboratory for Experimental Patho-Oncology, University Hospital Rotterdam/Daniel, Josephine Nefkens Institute, Erasmus University Rotterdam, Rotterdam, The Netherlands.
PURPOSE: Testicular germ cell tumors (TGCTs) of adolescents and adults are very sensitive to systemic treatment. The exquisite chemosensitivity of these cancers has been attributed to a high level of wild-type P53. MATERIALS AND METHODS: To clarify the role of P53 in treatment sensitivity and resistance of TGCTs, we performed immunohistochemistry and Western blotting analysis on a series of 39 fresh-frozen primary TGCTs before therapy (unselected series). In a series of formalin-fixed paraffin-embedded TGCTs of patients with fully documented clinical course, including treatment-sensitive (n = 17) and -resistant (n = 18) tumors, P53 status was assessed by immunohistochemistry and mutation analysis. In addition, the involvement of MDM2, a P53 antagonist, was investigated by immunohistochemistry, reverse transcriptase polymerase chain reaction, and in situ hybridization. RESULTS: Immunohistochemistry demonstrated absence of staining for P53 in 36%, 41%, and 17% of the unselected, responding, and nonresponding TGCTs, respectively. Of the positive TGCTs, most tumors, ie, 49%, 41%, and 33%, showed 1% to 10% positive nuclei. This overall low level of P53 was confirmed by Western blotting. Mutation analysis revealed only one silent P53 mutation in one of the responding patients. All embryonal carcinomas were homogeneously positive for MDM2, encoded by the full length mRNA, while a heterogeneous pattern was found for the other histologic components. Amplification of MDM2 was detected in one out of 12 embryonal carcinomas. CONCLUSION: Although our results are in line with previous findings of the presence of wild-type P53 in TGCTs, they show that a high level of P53 does not relate directly to treatment sensitivity of these tumors, and inactivation of P53 is not a common event in the development of cisplatin resistance.
UI - 11832607
AU - Kaushik R; Attri AK; Kaur L; Nada R
TI - Leiomyoma of the vas deferens.
SO - J Postgrad Med 2001 Apr-Jun;47(2):133-4
AD - Department of Surgery, Government Medical College and Hospital, Chandigarh, India. email@example.com
UI - 9605748
AU - Avizienyte E; Roth S; Loukola A; Hemminki A; Lothe RA; Stenwig AE; Fossa
TI - SD; Salovaara R; Aaltonen LA Somatic mutations in LKB1 are rare in sporadic colorectal and testicular tumors.
SO - Cancer Res 1998 May 15;58(10):2087-90
AD - Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Germ-line mutations in a serine/threonine kinase gene, LKB1, were recently shown to underlie Peutz-Jeghers syndrome (PJS), a hereditary disorder that predisposes to benign and malignant tumors of multiple organ systems. Most mutations that have been described thus far dramatically change the predicted protein and are likely to be of an inactivating nature. This observation and a previous observation that the LKB1 locus is often deleted in PJS polyps suggest that the gene may function as a tumor suppressor. We examined whether somatic mutations in this gene are present in sporadic carcinomas of the colon and testis, tumors that are characteristic of PJS. First, 20 randomly selected colorectal and 28 testicular tumors were analyzed by single-strand conformation polymorphism analysis. No mutations in LKB1 were found in colorectal tumors. One testicular tumor displayed a heterozygous missense type variant, in which glycine 163 was changed to aspartic acid. This change was absent in the DNA of normal tissue. To better focus our efforts, we tested 75 additional colon carcinomas for loss of heterozygosity at 19p, where LKB1 is localized. Of 75 samples analyzed, 50 were informative with a closely linked marker, D19S886, and 13 (26%) of these displayed loss of heterozygosity. The 13 tumors were scrutinized for LKB1 mutations by genomic sequencing. This analysis revealed no changes. Together, these findings suggest that somatic mutations of LKB1 are not frequent in colorectal and testicular cancer.
UI - 9887330
AU - Ylikorkala A; Avizienyte E; Tomlinson IP; Tiainen M; Roth S; Loukola A;
TI - Hemminki A; Johansson M; Sistonen P; Markie D; Neale K; Phillips R; Zauber P; Twama T; Sampson J; Jarvinen H; Makela TP; Aaltonen LA Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.
SO - Hum Mol Genet 1999 Jan;8(1):45-51
AD - Hartman Institute and Biocentrum Helsinki and Department of Medical Genetics, Haartman Institute, PO Box 21, University of Helsinki, 00014 Helsinki, Finland.
Germline mutations in LKB1 have been reported to underlie familial Peutz-Jeghers syndrome (PJS) with intestinal hamartomatous polyps and an elevated risk of various neoplasms. To investigate the prevalence of LKB1 germline mutations in PJS more generally, we studied samples from 33 unrelated PJS patients including eight non-familial sporadic patients, 20 familial patients and five patients with unknown family history. Nineteen germline mutations were identified, 12 (60%) in familial and four (50%) in sporadic cases. LKB1 mutations were not detected in 14 (42%) patients, indicating that the existence of additional minor PJS loci cannot be excluded. LKB1 is predicted to encode a serine/threonine kinase. To demonstrate the putative Lkb1 kinase function and to study the consequences of LKB1 mutations in PJS and sporadic tumors, we have analyzed the kinase activity of wild-type and mutant Lkb1 proteins. Interestingly, while most of the small deletions or missense mutations resulted in loss-of-function alleles, one missense mutation (G163D) previously identified in a sporadic testicular tumor demonstrated severely impaired but detectable kinase activity.
UI - 11921289
AU - Schneider DT; Schuster AE; Fritsch MK; Calaminus G; Gobel U; Harms D;
TI - Lauer S; Olson T; Perlman EJ Genetic analysis of mediastinal nonseminomatous germ cell tumors in children and adolescents.
SO - Genes Chromosomes Cancer 2002 May;34(1):115-25
AD - Division of Pediatric Pathology, Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, Maryland 21287, USA.
Primary mediastinal germ cell tumors (M-GCTs) represent a heterogeneous group of tumors that varies with regard to age at presentation, histologic differentiation, and outcome. We retrospectively analyzed archival tissue samples of mediastinal mature and immature teratomas (n = 15) and malignant nonseminomatous M-GCTs (n = 20) with comparative genomic hybridization (CGH). The aim of this study was to define distinct genetic subgroups of M-GCT among the pediatric cohort that may differ in their clinical behavior and prognosis. All pure teratomas showed normal CGH profiles. Malignant M-GCTs in infants and children < 8 years old most frequently showed a gain of 1q, 3, and 20q and a loss of 1p, 4q, and 6q. Gain of 12p and sex chromosomal abnormalities were not observed in this age group. In contrast, the gain of 12p was the most common aberration in M-GCTs that arose in children > or = 8 years old. Additional recurrent changes included the loss of chromosome 13 and the gain of chromosome 21. All ten adolescents with malignant M-GCT were male, and five showed a gain of the X chromosome. In two of these five patients, Klinefelter syndrome was confirmed by cytogenetic analysis or by fluorescence in situ hybridization (FISH). In conclusion, CGH analysis of M-GCTs defines distinct genetic subgroups. Mediastinal teratomas show no genetic gains or losses. Malignant M-GCTs in children < 8 years old show the same pattern of gains and losses identified in sacrococcygeal and testicular GCTs at this age, and they lack sex-chromosomal abnormalities. Malignant M-GCTs in children > or = 8 years old show the same genetic profile previously reported in gonadal GCTs at this age. In addition, approximately 50% demonstrate a gain of the X chromosome, consistent with Klinefelter syndrome. Cooperative group studies reveal a significantly better prognosis of malignant M-GCT arising in infants compared to that in adolescents, suggesting that these genetic differences are associated with differences in clinical behavior. Copyright 2002 Wiley-Liss, Inc.
UI - 11883131
AU - Bajaj P; Agarwal K; Niveditha SR; Pathania OP
TI - Leiomyosarcoma arising from tunica vaginalis testis: a case report.
SO - Indian J Pathol Microbiol 2001 Apr;44(2):145-6
AD - Department of Pathology, Lady Hardinge Medical College, New Delhi.
Benign and malignant soft tissue tumors of the paratesticular region i.e. those arising from the testicular tunics, epididymis and spermatic cord are uncommon. Of these, leiomyosarcoma arising from the tunica vaginalis is extremely rare. On extensive computerised search, a single case has been reported till date in the literature. We hereby report one such case because of its rarity.
UI - 11881732
AU - Hekimgil M; Altay B; Yakut B D; Soydan S; Ozyurt C; Killi R
TI - Leydig cell tumor of the testis: comparison of histopathological and immunohistochemical features of three azoospermic cases and one malignant case.
SO - Pathol Int 2001 Oct;51(10):792-6
AD - Department of Pathology, Ege University Faculty of Medicine, Izmir, Turkey. firstname.lastname@example.org
Leydig cell tumors of the testis are rare, mostly presenting as a testicular mass or as endocrinological symptoms. Here, three patients who were admitted for investigation of primary infertility and one patient presenting with a testicular mass are reported. The histological features were reviewed and an immunohistochemical study was done using a panel of antibodies against cytokeratin, vimentin, inhibin A, S-100, Ki-67, follicle-stimulating hormone, luteinizing hormone, prolactin, p53, bcl-2, and c-erbB2. The latter case (lost during follow up of metastatic disease) demonstrated massive tumor necrosis, extension through the tunica albuginea, and a high mitotic activity and MIB-1 score. Only this malignant case was bcl-2 positive. Of the two oncogenic markers studied, none of the cases were positive for c-erb2, while p53 was positive in more than 50% of cells in the malignant case and in one case of infertility with a large tumor, hemorrhage, focal necrosis and atypical cytological features. We recommend the evaluation of infertile men for Leydig cell tumors, and we believe that a panel of antibodies, including Ki-67, p53 and bcl-2, used for immunohistochemical analysis could be of diagnostic value in the identification of malignant and borderline cases of Leydig cell tumor.
UI - 11904381
AU - Einhorn LH
TI - Curing metastatic testicular cancer.
SO - Proc Natl Acad Sci U S A 2002 Apr 2;99(7):4592-5
AD - Indiana University Medical Center, 535 Barnhill Drive, RT 473, Indianapolis, IN 46202-5289, USA. email@example.com
Our initial studies with cisplatin + vinblastine + bleomycin began 27 years ago in 1974, changing the cure rate for disseminated disease from 5 to 60%. Subsequently, through random prospective clinical trials, we have modified the treatment regimen to reduce both the duration and dosages of the chemotherapy drugs. Cisplatin + etoposide was first used at Indiana University as salvage chemotherapy in 1978, representing the first time that a solid tumor had been cured with second-line chemotherapy. We next did a clinical trial comparing bleomycin + etoposide + cisplatin (BEP) to cisplatin + vinblastine + bleomycin. The BEP regimen was proven to have less toxicity and a higher cure rate and therefore, since 1984, has been standard chemotherapy. More recent studies have evaluated the use of lesser chemotherapy to maintain the same cure rate for patients with good-prognosis disease. Standard therapy for these patients is either three courses of BEP or four courses of EP, and over 90% of these patients will be cured of their disease. Patients who are not cured with their initial BEP chemotherapy are usually treated with salvage chemotherapy. Approximately 50% of these testicular cancer patients will subsequently be cured with salvage chemotherapy with tandem transplant of high-dose chemotherapy with peripheral stem cell rescue. Testicular cancer has become a model for a curable neoplasm. In the early 1970s, metastatic testicular cancer was associated with only 5% survival. Today, with modern chemotherapy and surgery techniques, 80% of patients will survive their disease.
UI - 11900499
AU - Vaughn DJ; Gignac GA; Meadows AT
TI - Long-term medical care of testicular cancer survivors.
SO - Ann Intern Med 2002 Mar 19;136(6):463-70
AD - University of Pennsylvania School of Medicine, The Leonard and Madlyn Abramson Family Cancer Research Institute at the University of Pennsylvania Cancer Center, 16 Penn Tower, 3400 Spruce Street, Philadelphia, PA 19104, USA.
Testicular cancer is the most common solid tumor diagnosed in men 20 to 35 years of age. Because of highly effective treatments that may include surgery, chemotherapy, and radiation therapy, most patients become long-term survivors. Health-related issues that confront testicular cancer survivors include the late medical effects of chemotherapy, the late relapse of disease, the development of second cancers, the effect of the disease and treatment on fertility, and the psychosocial consequences. This case-based discussion focuses on the primary care physician's evaluation and management of a long-term survivor of testicular cancer who was previously treated with surgery and chemotherapy.
UI - 11968735
AU - Iida K; Tsutsumi M; Ishikawa S
TI - [Metachronous primary malignant lymphoma of the bilateral tests: a case report]
SO - Hinyokika Kiyo 2002 Feb;48(2):93-5
AD - Department of Urology, Hitachi General Hospital.
We report a case of metachronous malignant lymphoma of the bilateral testes. A 62-year-old man presented with a mass in the right scrotal contents. Physical examination revealed a solid painless mass in the right scrotal contents measuring 4 cm in diameter. He underwent right high orchiectomy. The histological examination confirmed non-Hodgkin's lymphoma of diffuse, large-sized cells of the B cell type. Computed tomography of the abdomen revealed paracaval lymphandenopathy at stage IIE according to Ann Arbor classification. Chemotherapy was initiated with cyclophosphamide, adriamycin and vincristine. Eleven months after the initial operation, the patient complained of left scrotal swelling, and subsequently underwent left high orchiectomy. The histological examination revealed the same pathology as observed in the right one scrotal contents. He was free from recurrence at 15 months after the second operation.
UI - 11718451
AU - Baou N; Bouras M; Droz JP; Dutrieux-Berger N; Bouvier R; Benahmed M;
TI - Krantic S Somatostatin receptor expression profile as a potential criterion for discrimination between seminoma and non-seminoma testicular tumors.
SO - Cancer Detect Prev 2001;25(5):446-53
AD - INSERM 407, Faculte de Medecine Lyon Sud, Oullins, France.
The expression of five (sst1-sst5) somatostatin (SRIF) receptor mRNAs was compared between normal and tumoral testicular samples diagnosed as either seminoma or non-seminoma. Reverse transcriptase-polymerase chain reaction (RT-PCR) analysis indicated that all testicular tissues studied (total of 24) contained sst5 receptor transcripts, whereas the sst2 was absent in all of them. In contrast to the normal tissue samples, both types of tumors (total of 12) did not contain sst4 transcripts. sst3 mRNA was expressed in normal and non-seminoma samples, but not in seminomas. sst1 transcripts were not found in normal and seminoma tissues. However, all studied non-seminomas contained this mRNA. Our data thus points to a specific pattern of SRIF receptor mRNA expression in each type of the samples analyzed. Moreover, they further indicate that the presence of sst1 and sst3 transcripts might be used as an additional criterion to distinguish between seminoma and nonseminoma tumors.
UI - 11956262
AU - Kollmannsberger C; Rick O; Derigs HG; Schleucher N; Schoffski P; Beyer
TI - J; Schoch R; Sayer HG; Gerl A; Kuczyk M; Spott C; Kanz L; Bokemeyer C Activity of oxaliplatin in patients with relapsed or cisplatin-refractory germ cell cancer: a study of the German Testicular Cancer Study Group.
SO - J Clin Oncol 2002 Apr 15;20(8):2031-7
AD - Department of Hematology/Oncology, University of Tuebingen Medical Center, Tuebingen, Germany.
PURPOSE: To investigate the efficacy and toxicity of oxaliplatin, a diaminocyclohaxane platinum derivative with incomplete cross-resistance to cisplatin in patients with relapsed or cisplatin-refractory germ cell cancer. PATIENTS AND METHODS: Thirty-two patients with nonseminomatous cisplatin-refractory germ cell cancer or relapsed disease after high-dose chemotherapy (HDCT) plus autologous stem-cell support were treated with single-agent oxaliplatin 60 mg/m(2) on days 1, 8, and 15 repeated every 4 weeks (group 1; n = 16) or oxaliplatin 130 mg/m(2) given on days 1 and 15 of a 4-week cycle (group 2; n = 16). Patients were pretreated with a median of seven (range, three to 13) cisplatin-containing treatment cycles; 78% had received carboplatin/etoposide-based HDCT before oxaliplatin therapy. Twenty-seven patients (84%) were considered refractory (n = 20; 63%) or absolutely refractory (n = 7; 22%) to cisplatin therapy. RESULTS: Overall, four patients achieved a partial remission (13%; 95% confidence interval, 1% to 24%). Two additional patients achieved disease stabilization. All responses were observed in cisplatin-refractory patients, including three who had not responded to previous HDCT. Patients received a median two cycles of oxaliplatin with a median cumulative dose of 350 mg/m(2). Hematologic toxicity was generally mild, with five patients developing grade 3/4 thrombocytopenia. Nonhematologic side effects consisted mainly of nausea/vomiting. One patient developed grade 3 neurotoxicity. CONCLUSION: Considering the particularly unfavorable prognostic characteristics of this patient population compared with patients from previous trials for new drugs in germ cell cancer, eg, paclitaxel and gemcitabine, a 13% overall response rate and a 19% response rate in the group treated with oxaliplatin 130 mg/m(2) seems to be of interest. Oxaliplatin may be a palliative treatment option for this patient population, and evaluation in combination regimens is warranted.
UI - 11956460
AU - Hansen KS; Sheley RC
TI - Aortoenteric fistula in advanced germ cell tumor: a rare lethal complication.
SO - J Urol 2002 May;167(5):2131
AD - Department of Oncology and Interventional Radiology, Legacy Good Samaritan Hospital, Portland, Oregon, USA.
UI - 11763316
AU - Albanese JM; Reuter VE; Bosl GJ; Houldsworth J; Chaganti RS
TI - Expression of ID genes in differentiated elements of human male germ cell tumors.
SO - Diagn Mol Pathol 2001 Dec;10(4):248-54
AD - Cell Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA.
The ID genes are members of a family of genes that encode helix-loop-helix (HLH)-containing proteins. The Id proteins, unlike other HLH proteins, lack an adjacent DNA binding domain and hence act as dominant negative regulators of HLH transcription factors that have been implicated in control of cellular differentiation. Although the role of Id genes in murine development has been documented, their roles in human embryogenesis remain unknown. In this study, human male germ cell tumors (GCTs) were used as a model for examining the expression of the ID genes in various histologies that are reflective of different temporal phases of human development. In seminomas, little or no expression of IDI, ID2, and ID3 was detected, consistent with the uncommitted germ cell-like phenotype of this tumor histology. Likewise, GCTs with histologies reflective of extraembryonic and embryonic patterns of differentiation exhibited patterns of expression of the three ID genes often similar to those noted during murine development. It was also evident, as revealed by ID expression patterns, that despite the overall aberrant spatial differentiation patterns displayed by these tumors, some tissue-tissue interactions reminiscent of those observed during normal embryogenesis are retained. Thus, adult male GCTs offer a unique system in which the role of genes such as the IDs can be studied in human embryogenesis.
The above citations and abstracts reflect those newly added to CANCERLIT for the month and topic listed in the title. The citations have been retrieved from CANCERLIT using a predefined search strategy of indexed subject terms. Although the search strategy has been refined as best as possible, citations may appear that are not directly related to the topic, and occasionally relevant references may be omitted.