Abstract 1586: ADAM32 is amplified in a wide range of malignancy

Abstract

Abstract Cytogenetic analysis using karyotyping and fluorescence in-situ hybridization (FISH) has been the method of choice for identifying chromosomal abnormalities in cancer and other diseases. FISH is a powerful tool enabling detection the amplification or deletion of specific genes of interest using specific fluorescent labelled DNA probes. It has high sensitivity and specificity and enables detection of chromosomal abnormalities present in many genetic disorders. Unfortunately, FISH is labor intensive, gives information only regarding chromosomal changes specifically designated by the nucleotide sequence of the probes. Recently, DNA microarray techniques have allowed the simultaneous detection of vast number of chromosomal abnormalities including deletions, amplifications and translocations. These assays are suitable for large scale screening to discovery previously unknown associations of chromosomal lesions with many types of cancer. In present studies, we performed a retrospective analyses on anonymized data from the Constitutional v3 Array from the Texas Tech University Cytogenetics Lab (Children’s Oncology Group reference lab) on 198 sequential patients to determine the frequency of chromosomal aberrations and their disease associations. The patient population included children and adults. The majority of patients had malignancy, but some had pancytopenia or immune deficiency. We found chromosomal rearrangements, amplifications or deletions at 794 loci. The most commonly affected loci were 8p11.21-8p11.22, 15q11.1-15q11.2, 14q11.2, 14q32.33, 9p24 and 9p13. The 8p11.2 locus was amplified in 81 cases and deleted in 17 cases, an amplification/deletion ratio greater than any other locus. At this locus, the KAT6A, ADAM32 and TACC1 genes are known to associate with cancer, while no associations of GPAT4 and TM2D2 have been reported. The ADAM32 gene amplification, previously identified only in breast cancer, was also found in hepatocellular carcinoma, T-cell Lymphoma, acute lymphoblastic leukemia, acute myelogenous leukemia, Wilm’s Tumor, neuroblastoma, rhabdomyosarcoma, fibromatosis, chondroblastoma, enchondroma, and giant cell tumor of the bone. An oncogenic role of ADAM32 should be investigated in a broad spectrum of pediatric and adult malignancy. Citation Format: Aditya Rajan, Vijay Tonk, Kishore Bhende, Sharda Singh, Sahil Tonk, Sanjay Awasthi. ADAM32 is amplified in a wide range of malignancy [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 1586.