Distinct genetic alterations in small cell carcinoma from different anatomic sites
Open Access
- 14 January 2015
- journal article
- review article
- Published by Springer Science and Business Media LLC in Experimental Hematology & Oncology
- Vol. 4 (1), 1-8
- https://doi.org/10.1186/2162-3619-4-2
Abstract
Small cell carcinoma (SmCC) is a distinct clinicopathological entity first described in the lung. It represents approximately 15% of all bronchogenic carcinoma. Extrapulmonary small cell carcinoma (EPSmCC) morphologically indistinguishable from small cell lung cancer (SCLC) was first reported in 1930. Since its first description, EPSmCC has been reported in virtually all anatomical sites, including: gynecologic organs (ovary and cervix); genitourinary organs (urinary bladder and prostate); the gastrointestinal tract (esophagus); skin (Merkel cell carcinoma) and head and neck region. Regardless of the anatomic sites, all SmCCs have similar, if not identical, histo-pathology features and immunohistochemical profile. SmCC is one of the most aggressive malignancies. The molecular mechanisms underlying its development and progression remain poorly understood. Herein, we reviewed the literature in SmCC in respect to its site of occurrence, clinical features, immunohistochemical characteristics. SmCCs have heterogeneous molecular mutations. Dinstinct genetic alterations associated with SmCC from different body sites were reviewed. Some genetic alterations such as RB1, TP53 are commonly seen in different origins of SmCC. Other genes with site specificity were also summarized, such as bladder SmCC with TERT promoter mutations; prostate SmCC with ERG translocations; ovarian SmCC with SMARCA4 mutations; Merkel cell carcinoma (skin) and cervical SmCC with Merkel cell polyomavirus (MCV or MCPyV) and human papillomavirus (HPV). Further studies are needed to employ a genetically oriented approach for the diagnosis and therapy of SmCC.Keywords
This publication has 70 references indexed in Scilit:
- Genitourinary Small-Cell Carcinoma: A Single-Institution ExperienceCurrent Oncology, 2013
- Molecular Diagnosis of Prostate Cancer: PCA3 and TMPRSS2:ERG Gene FusionJournal of Urology, 2012
- Cell of Origin of Small Cell Lung Cancer: Inactivation of Trp53 and Rb1 in Distinct Cell Types of Adult Mouse LungCancer Cell, 2011
- A Surveillance, Epidemiology, and End Results analysis of small cell carcinoma of the bladderCancer, 2011
- ERG gene rearrangements are common in prostatic small cell carcinomasLaboratory Investigation, 2011
- A rare bladder cancer - small cell carcinoma: review and updateOrphanet Journal of Rare Diseases, 2011
- A small-cell lung cancer genome with complex signatures of tobacco exposureNature, 2009
- Clonal Integration of a Polyomavirus in Human Merkel Cell CarcinomaScience, 2008
- Biomarker‐assisted diagnosis of ovarian, cervical and pulmonary small cell carcinomas: the role of TTF‐1, WT‐1 and HPV analysisHistopathology, 2007
- The Pathology of Extrapulmonary Small Cell CarcinomaSeminars in Oncology, 2007