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Abramson Cancer CenterNCI CANCERLIT® Search: Retinoblastoma - July 2002
National Cancer Institute®
Last Modified: July 1, 2002
- First-line chemotherapy with local treatment can prevent external-beam irradiation and enucleation in low-stage intraocular retinoblastoma.
- Acute myeloblastic leukemia as a second malignancy in a patient with hereditary retinoblastoma.
- Photoreceptor cell differentiation in retinoblastoma demonstrated by a new immunohistochemical marker mucin-like glycoprotein associated with
- Functional results after treatment of retinoblastoma.
- Segmentation techniques for tissue differentiation in MRI of ophthalmology using fuzzy clustering algorithms.
- Trilateral retinoblastoma: a case report.
- Leiomyosarcoma of the bladder fourteen years after cyclophosphamide therapy for retinoblastoma.
- Further characterization of human mucin-like glycoprotein associated with photoreceptor cells by its introduction into Y79 retinoblastoma
- In vitro thermo- and thermochemo-sensitivity of retinoblastoma cells from surgical specimens.
- Postenucleation adjuvant therapy in high-risk retinoblastoma.
- Improved clinical management of retinoblastoma through gene testing.
- Inflammatory orbital pseudotumor simulating retinoblastoma in a one year old girl.
- A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.
- Unexpected sensitivity to radiation of fibroblasts from unaffected parents of children with hereditary retinoblastoma.
- Swallowed ocular prostheses: report of three cases in children with retinoblastoma.
Table of Contents
1
UI - 10920136
AU - Beck MN; Balmer A; Dessing C; Pica A; Munier F
TI -
First-line chemotherapy with local treatment can prevent external-beam
irradiation and enucleation in low-stage intraocular retinoblastoma.
SO - J Clin Oncol 2000 Aug;18(15):2881-7
AD - Pediatric Department, Hematology-Oncology Unit, and Department of
Radiooncology, Centre Hospitalier Universitaire Vaudois, and Jules Gonin
Eye Hospital, Lausanne, Switzerland. mnenadov@hola.hospvd.ch
PURPOSE: To evaluate the efficacy of first-line chemotherapy (CT) in
preventing external-beam radiotherapy (EBR) and/or enucleation in
patients with retinoblastoma (Rbl). PATIENTS AND METHODS: Twenty-four
patients with newly diagnosed unilateral or bilateral Rbl received CT
associated with local treatment (LT). Two to five courses of etoposide
and carboplatin were administered at 3- to 4-week intervals, depending
on tumor response, and were completed each time by LT. RESULTS: Tumor
response was observed in all eyes. Twenty-one of 24 patients showed a
complete response (CR) that persisted at a median follow-up (FU) of 31
months (range, 4 to 41 months). Among the three patients who relapsed,
two were lost to FU and one died of progressive disease. CR was achieved
by CT and LT alone in 15 (71.4%) of 21 patients with less advanced
disease (groups I to III). Six other patients with advanced disease
(groups IV and V) experienced treatment failure and needed salvage
treatment by EBR and/or enucleation. The difference between the two
patient groups with regard to disease stage was statistically
significant (P <.0001). EBR could be avoided in 13 (68.4%) of 19
patients, who presented with groups I to III (15 eyes) and group V (one
eye) disease, whereas enucleation could be avoided in only two (40%) of
five. CONCLUSION: CT combined with intensive LT is effective in patients
with groups I to III Rbl, permitting the avoidance of EBR in the
majority of these young children and, thus, reducing the risk of
long-term sequelae. This is in contrast with the disappointing results
for patients with groups IV and V Rbl, in whom EBR and/or enucleation
was needed.
2
UI - 11689590
AU - Nishimura S; Sato T; Ueda H; Ueda K
TI -
Acute myeloblastic leukemia as a second malignancy in a patient with
hereditary retinoblastoma.
SO - J Clin Oncol 2001 Nov 1;19(21):4182-3
3
UI - 11952864
AU - Tsuji M; Goto M; Uehara F; Kaneko A; Sawai J; Yonezawa S; Ohba N
TI -
Photoreceptor cell differentiation in retinoblastoma demonstrated by a
new immunohistochemical marker mucin-like glycoprotein associated with
photoreceptor cells (MLGAPC).
SO - Histopathology 2002 Feb;40(2):180-6
AD - Department of Ophthalmology, Faculty of Medicine, Kagoshima University,
Kagoshima, Japan.
AIMS: For further understanding of specific differentiation in
retinoblastoma, we studied the expression of newly detected mucin-like
glycoprotein associated with photoreceptor cells (MLGAPC), which is
specific for photoreceptor cells of retina and analogous to
interphotoreceptor matrix proteoglycan-1 (IMPG1). METHODS AND RESULTS:
Surgically enucleated retinoblastomas (n=21; undifferentiated type,
n=15, differentiated type, n=6) were immunohistochemically studied with
a polyclonal antibody against MLGAPC, and 17/21 cases (81%) showed
positive staining of tumour cells. We classified various staining
patterns and structures into four groups: type 1 showing a granular
intracellular scattered staining pattern with round small cells; type 2
showing a reticular staining pattern between spindle-shaped tumour
cells; type 3 showing radiating staining from the centre of Homer-Wright
rosettes; type 4 showing ring-shaped, radiating and granular staining
associated with Flexner-Wintersteiner rosettes. Eleven of 15
undifferentiated retinoblastomas (73%) showed type 1 or 2, and all the
six differentiated cases showed type 3 or 4. Image analysis of
immunostaining revealed an increase in MLGAPC-positive area from 0.48%
in undifferentiated cases to 1.60% in differentiated cases, and a
negative correlation was shown between mitotic frequency and
MLGAPC-positive area. CONCLUSIONS: This study proved MLGAPC as a
valuable marker of retinoblastoma, and that photoreceptor
differentiation takes place even in 'undifferentiated' retinoblastoma.
4
UI - 11997807
AU - Desjardins L; Chefchaouni MC; Lumbroso L; Levy C; Asselain B; Bours D;
TI -
Vedrenne J; Zucker JM; Doz F
Functional results after treatment of retinoblastoma.
SO - J AAPOS 2002 Apr;6(2):108-11
AD - Department of Ocular Oncology, Institut Curie, Paris, France.
PURPOSE: Because of the long-term complications associated with external
beam radiation in retinoblastoma, alternative treatment methods have
been investigated. We conducted a retrospective study to evaluate the
functional results of new treatment modalities. METHODS: Thirty-seven
eyes were treated without external beam irradiation in 31 patients. The
median diameter of the largest tumor in each eye was 6 mm. Primary
chemotherapy was used in 25 cases, chemothermotherapy was used in 32
cases, cryotherapy was used in 28 cases, iodine 125 Plaques were used in
15 cases, diode laser thermotherapy was used alone in 11 cases, and
photocoagulation was performed in 5 cases. The median follow-up after
diagnosis of retinoblastoma was 41 months. The visual results were
evaluated at a median age of 54 months. RESULTS: The median visual
acuity of the treated eyes was 20/33. Twenty-four eyes presented a
visual acuity better than 20/40, 4 eyes had a visual acuity between
20/200 and 20/40, and 9 eyes had a visual acuity less than 20/200.
Maculopathy was observed in 16 cases, associated with papillopathy in 1
case. A cataract was observed in 1 case and a vitreous hemorrhage was
observed in another case. Twenty-one eyes did not develop any
complications. No corneal dryness and very few lens changes were
observed. CONCLUSION: The functional results after local treatments for
retinoblastoma are very good. The most frequent complication is
maculopathy, particularly when the tumor involves or is situated close
to the macula.
5
UI - 12034338
AU - Yang MS; Hu YJ; Lin KC; Lin CC
TI -
Segmentation techniques for tissue differentiation in MRI of
ophthalmology using fuzzy clustering algorithms.
SO - Magn Reson Imaging 2002 Feb;20(2):173-9
AD - Department of Mathematics, Chung Yuan Christian University, Chung-Li,
Taiwan 32023. msyang@math.cycu.edu.tw
This paper presents MRI segmentation techniques to differentiate
abnormal and normal tissues in Ophthalmology using fuzzy clustering
algorithms. Applying the best-known fuzzy c-means (FCM) clustering
algorithm, a newly proposed algorithm, called an alternative fuzzy
c-mean (AFCM), was used for MRI segmentation in Ophthalmology. These
unsupervised segmentation algorithms can help Ophthalmologists to reduce
the medical imaging noise effects originating from low resolution
sensors and/or the structures that move during the data acquisition.
They may be particularly helpful in the clinical oncological field as an
aid to the diagnosis of Retinoblastoma, an inborn oncological disease in
which symptoms usually show in early childhood. For the purpose of early
treatment with radiotherapy and surgery, the newly proposed AFCM is
preferred to provide more information for medical images used by
Ophthalmologists. Comparisons between FCM and AFCM segmentations are
made. Both fuzzy clustering segmentation techniques provide useful
information and good results. However, the AFCM method has better
detection of abnormal tissues than FCM according to a window selection.
Overall, the newly proposed AFCM segmentation technique is recommended
in MRI segmentation.
6
UI - 11850605
AU - Cho EY; Suh YL; Shin HJ
TI -
Trilateral retinoblastoma: a case report.
SO - J Korean Med Sci 2002 Feb;17(1):137-40
AD - Department of Diagnostic Pathology, Samsung Medical Center, Sungkyunkwan
University School of Medicine, 50 Ilwon-dong, Kangnam-gu, Seoul 135-710,
Korea.
Trilateral retinoblastoma is a rare, but well recognized syndrome. These
tumors usually occur in the pineal, parasellar, or suprasellar regions
several years after successful management of ocular retinoblastomas
without evidence of direct extension or distant metastasis. Here we
report a case of trilateral retinoblastoma presenting initially with a
sellar tumor and with concurrent unilateral retinoblastoma. The patient
was a 5-month-old baby girl showing poor eye contact and nystagmus for
several days. She had no family history of retinoblastoma. Brain MRI
revealed a midline suprasellar tumor without evidence of cerebrospinal
fluid seeding or extracranial metastasis. A pathologic diagnosis of
retinoblastoma was made for her brain tumor, and a small, intraocular
retinoblastoma was detected in the left eye by thorough examination of
the fundus. If a retinoblastoma occurs in the midline of the brain,
including the pineal and sellar regions, a careful screening to detect
any additional retinal tumors should be performed. Moreover, since these
tumors are often hereditary and harbor a worse prognosis, the diagnosis
has implications for genetic counseling. This is the first report on a
case of trilateral retinoblastoma in Korea presented with a sellar mass.
7
UI - 11487082
AU - Motta L; Porcaro AB; Ficarra V; D'Amico A; Piubello Q; Comunale L
TI -
Leiomyosarcoma of the bladder fourteen years after cyclophosphamide
therapy for retinoblastoma.
SO - Scand J Urol Nephrol 2001 Jun;35(3):248-9
AD - Servizio Autonomo di Urologia, Verona, Italy. lumotta@altavista.it
We report a case of bladder leiomyosarcoma which occurred in a
22-year-old female who had been treated with cyclophosphamide for a
period of 68 months for retinoblastoma diagnosed at 18 months
postpartum. Partial cystectomy was performed. Forty-two months after the
operation she is tumor-free.
8
UI - 11914608
AU - Yamashita T; Uehara F; Ozawa M; Ohba N
TI -
Further characterization of human mucin-like glycoprotein associated
with photoreceptor cells by its introduction into Y79 retinoblastoma
cells.
SO - Ophthalmic Res 2002 Mar-Apr;34(2):70-6
AD - Department of Ophthalmology, Kagoshima University, Faculty of Medicine,
Kagoshima, Japan.
PURPOSE: To understand the function of a mucin- like glycoprotein
associated with photoreceptor cells (MLGAPC), MLGAPC-transfected Y79
retinoblastoma cells were analyzed biochemically and morphologically.
METHODS: The cDNA for the core protein of human MLGAPC was isolated,
cloned into a mammalian expression vector, pCAGGSneo, and then
transfected into Y79 retinoblastoma cells. The cells and the medium were
analyzed by means of Western blotting, and the morphology of the
transfectants and parental cells was compared. RESULTS: Western blot
analysis of the culture medium revealed that the transfectants secreted
MLGAPC into the medium. Lectin blot analysis of MLGAPC in the medium
showed that it had a binding site for Maackia amurensis lectin II. No
morphological difference was detected between the transfectants and
parental cells. CONCLUSIONS: As expected from the deduced amino acid
sequence of MLGAPC, it was secreted into the medium. The secreted MLGAPC
was found to carry sialoglycans (rod type). The expression of MLGAPC had
no effect on the adhesion or morphology of the cultured cells, which
suggests that its interaction with other components may be required for
these effects. Copyright 2002 S. Karger AG, Basel
9
UI - 11820468
AU - Inomata M; Kaneko A; Kunimoto T; Saijo N
TI -
In vitro thermo- and thermochemo-sensitivity of retinoblastoma cells
from surgical specimens.
SO - Int J Hyperthermia 2002 Jan-Feb;18(1):50-61
AD - Pharmacology Division, Research Institute, National Cancer Center,
Tokyo, Japan. minomata@gan2.res.ncc.go.jp
The sensitivity to heat and chemical modification of human
retinoblastoma cells obtained from patients with primary retinoblastoma
was studied in vitro by the human tumour colony assay established by
Hamburger and Salmon in 1977. Retinoblastoma cells showed moderate
sensitivity to 1 h of hyperthermia at 42 degrees C; the median T/C%
(ratio of the colony number in treated vs. control dishes, x 100) under
hyperthermia was 47.0% for 46 tumours studied. When tumours were treated
with melphalan, cis-diamminedichloroplatinum (II), adriamycin, etoposide
and teniposide at 37 degrees C and 42 degrees C, the median T/C% for
each chemical agent was decreased significantly by concomitant
hyperthermia. One-hour exposure of 38 tumours to melphalan,
cis-diamminedichloroplatinum (II) (30 tumours), adriamycin (27 tumours),
teniposide (22 tumours) and etoposide (20 tumours) at 37 degrees C gave
median T/C%s of 9.5, 33.5, 16.0, 3.8 and 38.0%, respectively, while
exposure at 42 degrees C gave values of 2.4, 8.2, 5.6, 1.0 and 6.6%,
respectively. Combination of heat and chemical treatment with melphalan,
cis-diamminedichloroplatinum (II) and etoposide appeared to be
synergistic with median T/C%s that were significantly lower than the
median T/C%s expected from a simple sum of their individual effects.
These in vitro results suggest that combining the treatment modalities
of hyperthermia and chemotherapy for primary retinoblastoma would be
advantageous.
10
UI - 12096963
AU - Honavar SG; Singh AD; Shields CL; Meadows AT; Demirci H; Cater J;
TI -
Shields JA
Postenucleation adjuvant therapy in high-risk retinoblastoma.
SO - Arch Ophthalmol 2002 Jul;120(7):923-31
AD - Oncology Service, Wills Eye Hospital, 900 Walnut St, Philadelphia, PA
19107, USA.
PURPOSE: The main purpose of this study was to determine the efficacy of
postenucleation adjuvant therapy in preventing metastasis in cases of
high-risk retinoblastoma. METHODS: This was a retrospective,
nonrandomized comparative study. Of 1020 consecutive patients with
retinoblastoma had were managed at a referral center between January
sporadic cases that were treated by primary enucleation and that had
high-risk characteristics for metastasis on histopathology reports
(anterior chamber seeding, iris infiltration, ciliary body infiltration,
massive choroidal infiltration, invasion of optic nerve lamina cribrosa,
retrolaminar optic nerve invasion, invasion of optic nerve transection,
scleral infiltration, and extrascleral extension). The main outcome
measure was the development of metastasis at a minimum follow-up period
of 12 months. RESULTS: There were 44 male and 36 female patients, with
age ranging from 1 day to 16 years (median, 33 months). A single
histopathologic high-risk characteristic was present in 50 patients
(62.5%). Thirty patients (37.5%) manifested 2 or more high-risk
characteristics. Forty-six patients (58%) had received postenucleation
adjuvant therapy (chemotherapy with or without orbital external beam
radiotherapy). Adjuvant therapy was not administered in 34 patients
(42%). Metastasis occurred in 10 patients (13%) at a median of 9 months
(range, 6-57 months) following enucleation. Eight (80%) of those who
developed metastasis had not received adjuvant therapy. A significant
difference (P =.02) was found in the incidence of metastasis between the
group that had received adjuvant therapy (4%; 2/46) and the group that
had not (24%; 8/34). The beneficial effect of adjuvant therapy was
statistically significant in subgroups of patients with massive
choroidal infiltration (P =.04) or retrolaminar optic nerve invasion (P
=.04). There were no adjuvant therapy-related serious systemic
complications. CONCLUSION: Postenucleation adjuvant therapy is safe and
effective in significantly reducing the occurrence of metastasis in
patients with retinoblastoma manifesting histopathologic high-risk
characteristics.
11
UI - 12117173
AU - Raizis A; Clemett R; Corbett R; McGaughran J; Evans J; George P
TI -
Improved clinical management of retinoblastoma through gene testing.
SO - N Z Med J 2002 May 24;115(1154):231-4
AD - Department of Molecular Pathology, Christchurch School of Medicine.
AIMS: To investigate the relative benefits of retinoblastoma gene
testing over conventional ophthalmological screening methods in a New
Zealand setting, and to determine the importance of tumour material in
resolving germline status. METHODS: Three cases of gene testing are
described to illustrate the clinical advantages over conventional
ophthalmological screening. To determine the role of tumour material in
resolving germline status, 24 New Zealand families were tested, of which
tumour material was available for eight. RESULTS: In the three cases
reported, we found genetic testing of the RB1 gene resulted in
clinically significant benefits and cost savings. When fresh tumour was
available for high molecular weight DNA extraction, germline status was
resolved in 8/8 (100%) cases. In these cases tumour mutations were not
present in the corresponding peripheral blood DNA, indicating that the
tumours were sporadic. In the absence of tumour DNA, mutations were
identified in only 8/13 (62%) heritable cases. Germline status remains
unresolved in all of the three cases of unilateral tumour without a
family history or tumour DNA. CONCLUSIONS: Our experience indicates that
retinoblastoma gene testing has significant benefits to the affected
individuals and their families in New Zealand. Moreover, DNA extracted
from fresh tumour allows retinoblastoma germline status in most cases to
be defined. Without rumour material, the germline status of potentially
sporadic cases will remain undetermined since the absence of detectable
RB1 coding region mutations does not exclude all possible mutations in
the RB1 gene, which is too large for DNA analysis. A lack of conclusive
results will mean that infants will be subjected to the unnecessary
inconvenience of surveillance under general anaesthesia.
12
UI - 12081353
AU - Bekibele CO; Ogunbiyi JO
TI -
Inflammatory orbital pseudotumor simulating retinoblastoma in a one year
old girl.
SO - West Afr J Med 2002 Jan-Mar;21(1):77-8
AD - Dept of Ophthamology, University College Hospital, Ibadan, Nigeria.
The case report of a one year old girl with a clinical diagnosis of
retinoblastoma who following enucleation was histologically diagnosed as
a case of inflammatory orbital pseudotumour is presented. The literature
is reviewed and the conclusion is reached that inflammatory orbital
pseudotumour be considered in the list of deferential diagnosis of
proptosis in early childhood.
13
UI - 12016586
AU - Klutz M; Brockmann D; Lohmann DR
TI -
A parent-of-origin effect in two families with retinoblastoma is
associated with a distinct splice mutation in the RB1 gene.
SO - Am J Hum Genet 2002 Jul;71(1):174-9
AD - Institut fur Humangenetik, Universitatsklinikum Essen, Germany.
We have identified a splice-site mutation (IVS6+1G-->T) in the RB1 gene,
in two unrelated families with incomplete-penetrance retinoblastoma.
Analysis of RNA from white blood cells showed that this mutation causes
skipping of exon 6. Although this deletion results in a frameshift, most
carriers of the mutation did not develop retinoblastoma. Interestingly,
the relative abundance of the resultant nonsense messenger RNA varies
between members of the same family and is either similar to or
considerably lower than the transcript level of the normal allele.
Moreover, variation of relative transcript levels is associated with
both the sex of the parent that transmitted the mutant allele and
phenotypic expression: All eight carriers with similar abundance of
nonsense and normal transcript have received the mutant allele from
their mother, and only one of them has developed retinoblastoma; by
contrast, all eight carriers with reduced abundance of the nonsense
transcript have received the mutant allele from their father, and all
but two them have retinoblastoma. After treatment with cycloheximide,
the relative abundance of transcripts from paternally inherited mutant
alleles was partly restored, thus indicating that posttranscriptional
mechanisms, rather than transcriptional silencing, are responsible for
low levels of mutant messenger RNA. Our data suggest that a specific RB1
mutation can be associated with differential penetrance, on the basis of
the sex of the transmitting parent.
14
UI - 12115515
AU - Fitzek MM; Dahlberg WK; Nagasawa H; Mukai S; Munzenrider JE; Little JB
TI -
Unexpected sensitivity to radiation of fibroblasts from unaffected
parents of children with hereditary retinoblastoma.
SO - Int J Cancer 2002 Jun 10;99(5):764-8
AD - Department of Cancer Cell Biology, Harvard School of Public Health,
Boston, MA 02116, USA.
The response to ionizing radiation was examined in diploid skin
fibroblasts derived from 5 patients with hereditary type retinoblastoma
as well as their parents. Unexpected sensitivity to cell killing, as
measured by clonogenic survival, as well as enhanced radiation-induced
G(1) arrest were observed in at least 1 parental fibroblast strain in
all 5 families. In all cases, parental strains were equally or more
radiosensitive than the probands. The mutation of the retinoblastoma
gene (RB) determined in 4 of 5 probands was either absent from the
parental cells, as expected from the negative family histories, or
identical, in 1 father who was a known carrier. In the fifth family, the
family history was negative for retinoblastoma. We hypothesize that the
increased parental cell sensitivity to radiation suggests the presence
of an as yet unrecognized genetic event occurring in 1 or both parents
of children with retinoblastoma. Whether it increases mutability of the
RB locus or other loci or interacts with RB is conjectural. Copyright
2002 Wiley-Liss, Inc.
15
UI - 12021653
AU - Moshfeghi DM; Wilson MW; Martin TL; Haik BG
TI -
Swallowed ocular prostheses: report of three cases in children with
retinoblastoma.
SO - Ophthal Plast Reconstr Surg 2002 May;18(3):211-3
AD - Department of Ophthalmology, University of Tennessee Health Science
Center, Memphis, Tennessee 38163, USA.
PURPOSE: To report 3 instances of 2 children who swallowed their ocular
prostheses. METHODS: A 30-month-old boy whose eye had been enucleated
for retinoblastoma swallowed his ocular prosthesis on 2 different
occasions, and a 32-month-old boy whose eye had also been enucleated for
retinoblastoma swallowed his ocular prosthesis once. RESULTS: In the
second child, an abdominal radiograph was obtained, but the swallowed
prosthesis was not apparent, and radiographic imaging of the recovered
prosthesis failed to demonstrate an identifiable object. In each case,
the prosthesis was recovered in the child's stool without incident
several weeks later. Neither child had physical complications as a
result of the swallowing events. CONCLUSIONS: We report 3 instances in
which a child fitted for an ocular prosthesis after enucleation
swallowed his prosthesis and had no untoward effects. The failure of
imaging to detect the prostheses in the second child is attributed to
the radiolucent nature of materials used in the manufacture of the
prosthesis. Each of the children was having life stresses in addition to
his medical treatment that may have accounted for his behavior.
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.
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