Objectives Intestinal-type adenocarcinomas of the nasal cavity (ITAC) are histopathologically similar to colorectal adenocarcinoma. Professional exposure to wood dust is a strong etiological factor, although the mechanism is not understood. Little is known about the genetic changes in sinonasal adenocarcinomas. Our goals were: 1) Identify genome-wide recurrent DNA copy number changes, and 2) Evaluate their relation to clinico-pathological characteristics. Methods 44 ITAC, 36 of wich related to professional exposure to wood dust, were studied by microarray CGH analysis using a 30,000 oligonucleotide set. In addition, MLPA was applied to identify copy number changes of 60 different tumor-related genes. Results The most frequent chromosome gains were, in descending order: 5p15,20q13, 8q24, 20q11 and 8q21. Losses occurred most frequently at: 4q31-qter, 18q12-22, 8p12-pter, 5q11-qter, 10q22-23 and 17p13. Recurrent high level amplifications were detected at 7p11, 8p11 and 8q24. MLPA confirmed the overall pattern of gains and losses found by array CGH. Frequent gains were found of genes in 8q (PTP4A3, RECQL4, MYC) and 20q (BCL2L1, PTPN1) and deletions of genes in 18q (BCL2, CDH2), 8p (CTSB, N33, MFHAS1) and 17p+q (CRK, TP53, TIMP2). Gains of MYC and PTPN1 were more frequent in the more aggressive solid and mucinous type ITACs. Loss of TIMP2 was associated with advanced tumor stage and worse survival. Conclusions This study confirmed a pattern of chromosomal aberrations unique to ITAC and not related to the pattern known in colorectal adenocarcinoma. The results suggest a role for TIMP2, MYC and PTPN1 in ITAC tumor progression.
