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Ancer Genetics Published Abstracts: C ancer Genetics A301 1743 1744 lluorescence in situ hybridisation (FISH) studies on nuclei released Identification of BCR/ABL gene in Chronic Myeloid Leukemia cases using from paraffin-embedded tissue (1ST) in low stage ebryonal carcinoma Fluorescence In Situ Hybridization (FISH) in Indian S.Bose, of the testis. RI. Blouch. PAlbers. TA. Smolarek. R. ster. and population. N.A...earma, Indiana University Medical Center, Indianapolis, K.Kucheria, V.P.ChoudharX, H.K.Kumbnani*. All India Institute of Mialrl- Indiana, USA. Sciences, Delhi University-, Delhi, India. cytogenetic abnormalities in testicular germ cell tumors (TGCTs) Identification of bcr/abl fusion gene in Chronic Myeloid Leukemia frequently include the presence of i(l2p), as well as other (CML) is diagnostically significant and crucial for monitoring therapy. abnormalities of 12p. we have developed p and q arm-specific painting 95% of all cases show probes for chromosome 12 for use in FISH, and with them a protocol for Approximately reported the Philadelphia(Ph') the study of distribution of 12p and 12q sequences within interphase translocation. Remaining Ph'-negative cases are either bcr-positive nuclei released from formalin-fixed, paraffin-embedded tissues (PET). or bcr-negative. Since the latter group comprise of heterogenous In an effort to look for a cytogenetic feature which could discriminate myeloid disorders it is important to evaluate cytogenetically uninformative pathologic stage I GCTs from pathologic stage II tumors, we have or Ph'-negative cases further by molecular or Fluorescence Insitu applied this technique in a retrospective study of low stage nonseminomatous germ cell tumors. Approximately 30t of patients who Hybridization (FISH) analysis. FISH is also a sensitive and efficient present with clinical stage I nonseminomatous testis cancer are in fact tool for monitoring Ph'-negativity after interferon (IFN) therapy or bone stage II. Previous studies at Indiana University have showed an marrow transplantation (BMT). increasing volume of embryonal carcinoma in the orchiectomy specimen We analysed 48 treated and untreated CML cases by conventional to be associated with a higher likelihood of pathologic stage II cytogenetic method. O 22 untreated cases, 20 were positive for Ph' diagnosis. However, not all patients with pure embryonal carcinoma in the primary were pathologic stage II. Whole nuclei were released from chromosomes, 1 was negative and 1 was mosaic. Of 26 treated cases, archival material (PET) and studied using bicolor FISH with chromosome 23 were positive, 2 were negative and 1 was mosaic. Sequential cyto- 12 p and q arm-specific painting probes developed through the use of genetic follow up study was done in 15 cases receiving Interferon-alpha chromosome microdissection. FISH was performed and the results /chemotherapy. Post therapy 2 became negative and 2 mosaic. Six analysed using blinded specimens. In all cases, distinct regions of cases were analysed using FISH for bcr/abl gene which confirmed the 12p and 12q probe hybridization could be simultaneously observed, results. Cases allowing identification of probable normal chromosme 12s, as well as cytogenetic showing negativity/mosaicism, post therapy regions of amplification of 12p sequences, including identification of are being further confirmed using FISH to assess the minimal residual possible i(12p)s. In 5/14 specimens, a distinct and peculiar pattern malignant cells. Clinically CML, Ph'-ve cases at diagnosis are also of 12p hybridization was observed, and termed multi-focal 12p, or 12p being evaluated further by FISH. 'disarray'. Of the five specimens demonstrating 12p disarray, 4 were Cytogenetic results show similar percentage of Ph-positive CML pathologic stage B, while 1 was pathologic stage A. Whether the trend patients toward 12p disarray portends metastatic potential or activity in NSGCTs In Indian population as reported elsewhere. Our results support the will need to be assessed using a larger series of patients. importance of using FISH technique to assess the presence of malignant cells in evaluating the cytogenetically negative cases at diagnosis and mosaic or negative cases post therapy. 1745 1746 Familial brain gliomas: s report of two families. CaL. Dal B. AzzaIi2. E. Unusa Cytegenet Finga hI A Choroid Plexus Cacnona. FoxI. and G. H. Vancel. Department ofMedical and Molecular Geneticsl, ((You-S. Li'. Ross F. Armstrong'. Yao-Shan Fan Department of Department ofPathology2, Indians University, School ofMedicine, Indianapolis, IN, Pathology, Victoria Hospital, London, Ontario, Canada. 801 St. Mary's Dr., Evansville, IN 477143. Choroid plexus tumours are rare, and most occurrence frequently occur in early Familial ofbrain gliomas is a rare finding. In some families the diagnosis childhood. Only a few choroid plexus turnours have been karyotyped. ofbrain gliomas in one or more family members is associated with other malignant In a in the proband and family members. These other tumors can involve patient with choroid plexus carcinoma, cytogenetic studies tumors tissues revealed a such as breast, skin, muscle and bone marrow. The pattern of cancer may suggest that hyperhaploid stemline, 32, XY, + 1, + 7, + 9, + 12, + 13, the family has a familial cancer syndrome or preneoplastic syndrome, such as Li- + 14, + 19, + 20. Endoreduplication and doubling of the stemline up Fraumeni syndrome, familial polyposis, tuberous sclerosis or neurofibromatosis. In to 200-400 chromosomes per cell and variation in numerical changes some families, brain tumors are the sole neoplasia identified suggesting tamilial site- were also noted. Telomeric association was present in most cells. specific cancer. We report on two families with familial brain gliomas. Within the first The 1 2p and 20q were by far the most frequently involved family, Family A, a total offour individuals spanning two generations have been chromosome arms. It is believed that telomeric association triggered diagnosed with glioblastoma multiforme. Additionally, breast, ovarian, and colon further structural changes in this case since the 12p and 20q were cancers have been identified. A tentative diagnosis of Li-Fraumeni syndrome, a rare always involved in the few structural abnormalities identified. A inherited cancer syndrome, was given. Testing for p53 mutations is in progress. A review of the literature suggests that choroid plexus carcinoma seems karyotype performed on the probind demonstrates normal peripheral blood to be characterized by hyperhaploidy and that choroid plexus chromosomes. The second family, Family B, has two sisters one diagnosed with papilloma by hyperdiploidy. glioblastoma multiforme and the other with astrocytoma at the respective ages of 31 and 28 years. This family fits the familial site-specific cancer model. Neither family demonstrates cutaneous abnormalities or reports exposure to environmental carcinogens. In addition to describing these two families, we will discuss the inheritance pattern for site-specific brain cancer and explore genetic counseling issues for familial cancer syndromes and site-specific brain cancer including the availability of genetic testing and screening protocols. 1747 1748 The use of Non-Isotopic RNase Cleavage Assay for p53 mutant Chromosome analysis of distal common bile duct carcinomas. screening in prostate cancer. C.J.Godec_ .J.Macera, N.Sharma and R.S.Verma. Long Island College Hospital/SUNY C. A. Griffin. P. P. Long. L A. Morsherr T. Eilingham. R. H. Hrub=n Health Science Center at Brooklyn, N.Y. CJ.L.. Johns Hopkins School of Medicine, Depts. of Oncology, The most common form of cancer in men today, prostate car- Pathology and Surgery, Baltimore, MD. cinoma (244,000 new cases in 1995), is still poorly under- stood at the genetic level. p53, a known tumor supressor Bile duct carcinoma is a rare malignancy which may share some genetic gene has been shown to be involved in lung, colorectal, abnormalities with other GI tract breast and other tumors. Involvement neoplasms.We analyzed eight primary of p53 in early pros- adenocarcinomas of the distal common tate cancers is uncommon but studies indicate a 20-25% in- infiltrating bile duct for volvement in advanced stages. The majority of mutations chromosome abnormalities as afirst approach to describing genomic found in p53 tend to be point mutations clustered in exons changes in this tumor. All eight of the carcinomas were obtained fresh 5 through 8. The most common methods of detecting these from surgical pancreaticooduodenectomy specimens. Six of the carcinomas mutations is either through direct sequencing or single were differentiated and two strand conformational moderately were poorly differentiated. Clonal polymorphisms (SSCP) of polymerase chromosome abnormalities were found in seven of the neoplasms. The chain reaction (PCR) products. Direct sequencing is very modal number cumbersome and SSCP is limited to fragment sizes of 200-300 was near triploid in two cases, near tetraploid in one case bps. We used the non-isotopic RNase cleavage assay (NIRCA- and near diploid for the rest. Four cases had complex chromosome Ambion) where transcripts are made in vitro to PCR products rearrangements in addition to whole chromosome losses and gains. The that contain opposable T7 and Sp6 promoters. Sense and most frequent losses were chromosomes 9 (4 cases), 10 (3 cases) and 18 (3 anti-sense strands are hybridized to wild type controls and cases). Chromosome 7 was gained in 3 cases (1 of these had a small
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