Frequent mismatch repair protein deficiency in mixed endometrioid and clear cell carcinoma of the endometrium Journal Article


Authors: Köbel, M.; Tessier-Cloutier, B.; Leo, J.; Hoang, L. N.; Blake Gilks, C.; Soslow, R. A.; Delair, D.; Stewart, C. J. R.; Lee, C. H.
Article Title: Frequent mismatch repair protein deficiency in mixed endometrioid and clear cell carcinoma of the endometrium
Abstract: Mixed endometrioid and clear cell carcinoma of the endometrium refers to a scenario in which the tumor exhibits histologic features of both endometrioid and clear cell carcinoma. We observed a tendency for these tumors to occur in a mismatch repair (MMR) protein-deficient molecular background in a prior study that examined a small cohort of mixed-type endometrial carcinomas. The aim of this study was to determine the rate of MMR protein deficiency in a larger series of endometrial mixed endometrioid and clear cell carcinomas, through a retrospective survey of MLH1, PMS2, MSH2, and MSH6 expression in such tumors at 5 tertiary centers. A total of 41 cases were identified and 27 (66%) tumors demonstrated MMR protein deficiency with a comparable frequency across the contributing centers (ranging from 56% to 83%). Among the MMR protein-deficient cases, 59% showed concurrent MLH1 and PMS2 loss, 33% showed concurrent MSH2 and MSH6 loss, and 4% showed isolated PMS2 or MSH6 loss. Compared with a previously published series of 15 pure endometrial clear cell carcinomas, mixed endometrioid and clear cell carcinomas are associated with significantly better disease-specific survival (P=0.02). In summary, endometrial carcinomas with mixed endometrioid and clear cell histology are frequently MMR protein deficient. This finding has implications both for our understanding of its tumor biology and for the identification of patients with potential Lynch syndrome. © 2017 by the International Society of Gynecological Pathologists.
Keywords: immunohistochemistry; adult; cancer survival; clinical article; controlled study; human tissue; protein expression; aged; clinical feature; histopathology; endometrial cancer; endometrium carcinoma; retrospective study; protein deficiency; clear cell carcinoma; mismatch repair protein; protein msh2; protein msh6; disease specific survival; mismatch repair protein pms2; hereditary nonpolyposis colorectal cancer; msh2; clear cell; endometrioid; msh6; mlh1; pms2; human; female; priority journal; article; mixed carcinoma; mutl protein homolog 1
Journal Title: International Journal of Gynecological Pathology
Volume: 36
Issue: 6
ISSN: 0277-1691
Publisher: Lippincott Williams & Wilkins  
Date Published: 2017-11-01
Start Page: 555
End Page: 561
Language: English
DOI: 10.1097/pgp.0000000000000369
PROVIDER: scopus
PUBMED: 28114191
DOI/URL:
Notes: Article -- Export Date: 1 December 2017 -- Source: Scopus
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  1. Robert Soslow
    793 Soslow
  2. Deborah F DeLair
    106 DeLair