Primary Colon Adenosquamous Carcinoma in a Patient With Lynch Syndrome
| Autor: | Shuko Harada, Todd M. Stevens, Virginia E. Duncan |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Adenosquamous carcinoma Biology MLH1 Polymerase Chain Reaction Pathology and Forensic Medicine Carcinoma Adenosquamous 03 medical and health sciences 0302 clinical medicine Colon Adenosquamous Carcinoma Biomarkers Tumor medicine PMS2 Humans neoplasms Germ-Line Mutation nutritional and metabolic diseases Microsatellite instability Middle Aged medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis Immunohistochemistry digestive system diseases Lynch syndrome MSH6 MSH2 030220 oncology & carcinogenesis Colonic Neoplasms Cancer research Female 030211 gastroenterology & hepatology Surgery Anatomy MutL Protein Homolog 1 |
| Zdroj: | International Journal of Surgical Pathology. 24:653-655 |
| ISSN: | 1940-2465 1066-8969 |
| DOI: | 10.1177/1066896916659539 |
| Popis: | We report a case of a 53-year-old woman who presented with rectal bleeding and a 9.5 cm hemicircumferential ascending colon mass. Histology revealed adenosquamous carcinoma (ASC), a rare subtype comprised of malignant squamous and glandular elements. Immunohistochemistry revealed loss of MLH1/PMS2 expression and retained MSH2/MSH6 expression in squamous and glandular components, indicative of microsatellite instability (MSI). MSI is caused by loss-of-function defects in DNA mismatch repair genes, leading to increased susceptibility to a variety of neoplasms; the role of MSI in colorectal ASC is unknown. The tumor was negative for MLH1 gene promoter hypermethylation, the patient had a germline MLH1 mutation, and met criteria for Lynch syndrome. To our knowledge this is the first report of a MSI-high colorectal carcinoma (CRC) showing adenosquamous histology. Further evaluation of MSI status in colorectal ASC may be warranted as this may be another histologic type of CRC associated with MSI. |
| Databáze: | OpenAIRE |
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