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Phenotype–genotype correlation: Challenge of intestinal‐type adenocarcinoma of the nasal cavity and paranasal sinuses
Author(s) -
Frattini Milo,
Perrone Federica,
Suardi Simona,
Balestra Debora,
Caramuta Stefano,
Colombo Federica,
Licitra Lisa,
Cantù Giulio,
Pierotti Marco A.,
Pilotti Silvana
Publication year - 2006
Publication title -
head and neck
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.012
H-Index - 127
eISSN - 1097-0347
pISSN - 1043-3074
DOI - 10.1002/hed.20433
Subject(s) - nasal cavity , paranasal sinuses , genotype , adenocarcinoma , phenotype , medicine , biology , pathology , gene , genetics , anatomy , cancer
Background. Intestinal‐type adenocarcinoma (ITAC) of the nasal cavity and paranasal sinuses shows microscopic features indistinguishable from colorectal cancer. Our aim was to verify whether the morphologic resemblances mirror genetic profile similarities. Methods. Twenty consecutive surgically treated ITAC cases, previously investigated for p16 INK4a and TP53 , were investigated for hMLH1, hMSH2, and β‐catenin immunoreactivity, and for adenomatous polyposis coli ( APC ), K‐ras , and BRAF gene mutations. Results. One case was immunonegative for both hMLH1 and hMSH2, and 12 tumors (40%) revealed a strong β‐catenin overexpression. No BRAF and APC truncating mutations were identified, whereas K‐ras mutations were detected in 9 ITACs (50%). Conclusions. Our data confirm the phenotypic similarities at the genetic level between colorectal cancer and ITACs showing deregulation of K‐Ras / BRAF and loss of heterozygosity (LOH) of chromosome 18q. By contrast, both frequency rate and type of inactivation of the APC‐β‐catenin pathway differ in the 2 tumors, suggesting different gatekeeper events in the early development of ITAC ( p16 INK4a and TP53 ) and colorectal cancer ( APC ). © 2006 Wiley Periodicals, Inc. Head Neck, 2006