Extraskeletal chondrosarcoma with a allele loss in chromosome 22 and chromosome 10: Shen WV, Walter B, Cain MJ, Young R, Katz J, and Smith M. University of California, Irvine, CA, U.S.A.

Abstract

Listen

Translate article

Abstracts *B2 ANGIOSARCOMA OF THE SCALP WiTH A COMPLEX HYPO- TETRAPLOID KARYOTYPE. A Molina, CD Bangs and T Donlon. Stanford University Medical Center, Depadments of Medicne (Oncology) and Pathology (Clinical Cytogenetics), Stanford, Ca 94305 Angiosarcoma is a rare (less than 2% of all sott tissue sarcomas), aggressive malignant neoPlasm of vascular endothelial cell origin which can arise in any tissue of the body: Cutaneous angiosarcoma almost exclusively affects the elderly and primarily involves the head and neck region in the area of the scalp. We performed a ~togenetic study of a resected cutaneous angiosarcoma in a 72 year old man. The patient underwent wide surgica ! excision of several erythematous ulcerated:scalp noduJes present in the dermis and suboutis. Histological examination re~ealed diffuse infiltrative cells with pleomorphic hyperchromatic nuclei~ and vascular neoformat!ons: Numerous mitotic figures were seen. Tumor tissue was disaggregated with coitagenease and cultured. Chromosomes were analyzed by the G-band method. Twenty cells were examined; ieveaiing a hy~!tetraploid Cell line with a chromosome number ranging from 85-91 anda modal number of 87. A repfesentat ve karyotype was dentil ed 86i XY, %XI +YI ÷1, ~2 +2q?i ÷2q?, -3, ~3, +!(3p). +i(3p), +del(3)(p2t3), +del(3) (p21.3)i +6, +7i +7. ÷8. +der(8)t(1;8)(p13;plL2), +9, +10, +10, +11, +11 ,+12. +t3, ÷13p+. +14i +14. +15, +16; +16, +17; +18, +19, +19, +20, +20,+21. +22. +22, ÷Stoat. Consistent structural abnormalities were two chromosome #2% with abnormal long arms:, two short arm de!clad copies of #3i an abnorma! #8 derived from a translocation with #1; a #13 with extra material on the short arm and multiple imarker Chromosomes. NUmeric Variation between Ceils was seen_To our knowledge: this: isthe tirst cytogenetic Study on angiosarooma of tha scalp. Despite surgical resection and adjuvant radiation therapy, the Patient develapedwidespread metastatic disease: Cytogenetic aria!yeas pe~ormed at an ea!lier stage in the evolution of this malignancy might offer insights into the mechanisms underlying tum0r progression and the generation of aneuploi~< ,B3~fI~%SKELSTAL : ~ : •- WITS A A L L ~ E LOSS IN CBRQMOSCME 22 ~ C~RQMOSQME i0. Shen WV, Walter B, Cain MJ, Young R, Katz J, and Smith M. University of California, Irvine, CA, U.SoA. Extraskeletal Myxoid Chondrosarcoma is a rare tumor of the adulthood. Non-random reciprocal translocation between chromosome 9 and 22 has been reported associated with this tumor. We have performed cytogenetic and molecular genetic investigation of a myxoid chondrosarcoma from right frontal-temporal reglon in a 27 year old female. A portion of this tumor was snapped frozen for DNA analysis and the other portion was mechanically dissociated and put in the tissue culture medium. Twenty-five analyzable metaphases from a lO day short term culture of the tumor revealed 46 XX karyotype. When the tumor DNA was compared with lymphocyte DNA from the same person with the probe D22S9 (mapped to chromosome 22 qll region), control DNA was homozygous for this probe (5.8Kb), tumor DNA has extra lower bend at 5.2Kb in addition to the 5.8Kb bend. This finding is suggestive of tumor DNA had possible small internal deletion of one allele in the reglon of 22qli. Analysis of WBC DNA revealed homozygosity for the D22S] probe which is mapped to chromosome 22qli- q13. Markedly decreased hybridization signal was noted in the tumor DNA indicating loss of chromosome 22 sequence in the tumor cells. The tumor DNA and control DNA were also compared with 9q RFLP probes including ASSP3, Aldo B, no difference were observed. Hox I~ NGF-B and DIOSI loci were not informative. Allele loss was noted in the tumor DNA with DIOS4 probe. This study reveals s defec~ of extraskeletal chondrosarcoma may reside in the region of 22qli region which is consistent with the previous cyto- genetic observation. In our case, no translocation was observed, but submicroscopic deletion may be present. Allele loss in chromosome i0 warrants further study.