Cytogenetic findings in rare pediatric tumors: Report of a case of interdigitating reticulum cell sarcoma and a case of pancreatoblastoma

Cytogenetic findings in rare pediatric tumors: Report of a case of interdigitating reticulum cell sarcoma and a case of pancreatoblastoma

158 Abstracts B27 SECONDARY CHROMOSOME ABERRATIONS IN SYNOVIAL SARCOMA WITH 1(X:18). J.Limon. F.MertenS. B.Nedoszytkg. M.Debiec-Rychter F.Mitelmen...

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158

Abstracts

B27

SECONDARY CHROMOSOME ABERRATIONS IN SYNOVIAL SARCOMA WITH 1(X:18). J.Limon. F.MertenS. B.Nedoszytkg. M.Debiec-Rychter F.Mitelmen. N.Mandahl. Department of Biologyand Genetics.Medicel University of Gdansk and Department of Oncology. Medical Universityof L6di. Poland: Department of Clinical Genetics, Universityof Lund, Sweden

We present the cytogenetic findings In a series of 18 new cases and 56 previously reported cases of synovial sarcoma. The 1(X:18). or variants thereof were found as the sole chromosomal SnOmEly in at IeeSt one Clone in 24 cases. and together with other changes in 50 cases. The rat10 of ceses with addiiional chmmosomal changes versus those with t(X;l8) as the sole anomaly in primary, recurrent, and metastatfc lesions was 1.2, 3.0. and 4.3. Among cases with secondary aberrations both numerical and structural changes were present in 52%. and exclusively stn~cturel or numerical changes in 30% and 18%. rerpectiiely. The most common numerical changes were gain of chmmosomes 7. 8. 12. and 21 and loss of chromosomes 3. 11, 14. and 22. Ttisomy 8 was found only in primary. and recurrent lesions hut not in metastatic tumors. This tnsomy has previously been described as a nonrandom SeUxtdery aberration in two types of sarcoma: myxotd liposarcoma and clear cell sarcoma: It might also be of interest that tnsomy 2. monosomy 3. and partial 3p deletions were exclusively (except for one case) observed in recurrent and metestatic tumors. Chmmosomes 1, 3.11, 12. 15. 17. and 21 were most frequently involved rn sewndaly structural changes. Except for an accumulationof breaks in 3p. especially at band ~15. no clustering of breakpoints to specrfic segments could be seen. No differences were revealed between the secondary chromosomal changes of monophasic and biphasic tumon.

B29

SEX CHROMOSOME LOSS IN BENIGN AND MALIGNANT BRAIN NEOPLASMS: A COMMOiv PHENOMENON. A. Al Saadi, William Beaumont

Hospital, Royal Oak, MI in a variety of benign Loss of gonosomcs

and malignant neoplasms is well documented, but the clinical and/or biological significance of such loss remains obscure. Loss of the Y chromosome from the leukocytes of elderly men is also weli known. In an attempt to elucidate the significance of the loss of gonosomcs, we have determined the incidence in human brain tumors ranging from benign, to highly malignant. Loss of the X or Y chromosomes were evaluated by karyotyping short-term cultures and by fluorcsccncc in situ hybridization (FISH) on uncultured samples of 129 tumors. Loss of gonosomes was also evaluated in Icukocytcs from these patients. The Y chromosome was lost in 64% and the X in 41% of 42 glioblastomas (GM). The Y chromosome was lost from 36% of 55 mcningiomas (MA) and in 33% of other less malignant gliomas. Loss of theX chromosome was ncgiigiblc in both MAs and the less malignant gliomas. Loss of the X or the Y in GM was the most common nonnndom abnormality and loss of the Y was the most nonrandom abnormality in all brain tumors, other than MA in which loss of chromosome 22 is the most common. There was insignificant difference in the detection of gonosomcs loss by karyotyping or by FISH of interphase cells. There was no or insignificant loss of gonosomes in the leukocytes of the studied patients. The significance of the X or Y loss is not clear, it appears however, that gonosomes play a role in the development of brain tumors. The gonosomcs may carry genes involved in growth regulation. Although loss of gonosomes is nonrandom, loss of the X was limited to the malignant brain neopiasms whereas loss of the Y was noted in both benign and malignant tumors, which may suggest different functions in growth regulation of the two chromosomes.

B28

Cytogenetic Findings in Two Sex Cord Stromal Tumors of Testis: possible non-random aneuploidy. Lawce, H.J.~, Magenis. R.E.l, Shah N.2, Garvin, J.H.3, and Giller, R.H.4. Oregon Healkh Sciences University, Portlandl, Geisinger Medical Center, Danville, PAZ, Columbia University College of Physicians and Surgeons, New York City3, University of Colorado School of Medicine, Denver4, and the Children's Cancer Group, Arcadia, CA.

There are very few reports of chromosome studies of testicular sex cord stromal tumors. Two testicular tumors received in the OHSU laboratory eight months apart from two different patients a mixture of normal karyotypes and very similar aneuploid karyotypes with no structural abnormalities. Patient 1: 57-58,XY, +3,+6,+7,+8,+9,+11,+12,+12,+13,+14,+18,+19. Patient 2: 61,XY,+3,+6,+7,+8,+9,+11,~12,+12,+13,+14,+15,t18, +19,+19,+20. The abnormal karyotypes were seen only in Methotrexate-synchronized 4-5 day cultures. Both tumors were submitted as possible germ cell tumors; however, the pathology reports from the submi tt ing institutions, Geisinger Medical Center and Columbia University College of Physicians and Surgeons, were more consistent with benign undifferentiated sex cord stromal tumors. The cytogenetic similarities between these two tumors are striking, and are reminiscent of the consistent aneuploidies seen in some other neoplasms such as ALL or ANLL. These karyotypic findings may represent non-random changes specific to undifferentiated sex cord stroma? tumors of testis.

B30

CYTDGENETIC FINDINGS IN RARE PEDIATRIC TUMORS: REPORT OF A CASE OF INTERDIGITATING RETICULUM CELL SARCOMA AND A CASE OF PANCREATDBLASTOMA.

hf.44 Haag’-= M.J. Sutciiffe”, Favara’, Pathology,

W. Cbamizo’.

U.P. Dumom’..

‘All Children’s

St. Petersburg,

Hospital,

FL. ‘University

J.A.

McFuland’.

Depwtment

of South Florida.

8.E.

of’ Tampa. FL.

have analyzed chromosomeson two very rare casaa of malignancy in children, an rnterdigitetinoreticulum cell sarcoma and a pancreatoblastoma, with routine and molecular cvtopenetic techniques. A 10 month old boy prssentad with panniculitisand hemophaoocvdc syndrome. and shortly thereafter developed carvicel lvmphadenopathv. At 13 months of aoa there was teaticuler and pleural involvamant. A diagnosis of intardigitatingreticulum call sarcoma was made on the testicular biopsy. Shorttermculture of the testicular biopsy revealed an abnormal male karvotvpa with numerical and structural anomalies. Clonal abnormalitiesincluded trisomv 8, dell10)(q24), t(11:7)fq23;71. add21lq22). derl22)tf1;22)fql2;p;l1.2). One cell had an additional copy of chromosome 12. FISH was used to confirm the abnormalities. There am no known cytopenetic reports for cases of interdigitating reticulum cell sarcoma, however thiscese shame ebnormalitiee which ere non-randomly associated with other mrlignancres. particularly those of hamatopoiatic origin, such as trisomy 8 and translocation breakpoint 1 lq23. The petient respondedto therapy for a short time, then euccumbad to CNS disease. A ~concl patient presented at 3.5 years of age with a larpe abdominal mass. Biopsy showad a hetsrooeneoustumor with primitive embrvonrl, mesenchymal and epithelial components. A dieQnosisof pancraatoblastoma was astablished. An abnormal tumor clone was observed in short term cultures with a hypsrdiploid karvotvpe, showing trisomy 7. 8, 10, tetresomy 12. end e derll5lt(l;l5)fq21;pll.21. There are very few reports of the cvtogenatics of pancreatic tumors. Hvpardiploidvhas been demonstrated to in&da anra chromosomas7, 8. 10. and 12 in association with adult pancreatic adenocarcinoma. Pediatric malignant tumors of the pancraas are extremely rare and no previous cvtooenatic reports ware found. This tumor responded to therapy and was subaaquently completely resected. We