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Current morphologic criteria perform poorly in identifying hereditary leiomyomatosis and renal cell carcinoma syndrome-associated uterine leiomyomas.

Authors :
Alsolami S
El-Bahrawy M
Kalloger SE
AlDaoud N
Pathak TB
Chung CT
Mulligan AM
Tomlinson IP
Pollard PJ
Gilks CB
McCluggage WG
Clarke BA
Source :
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists [Int J Gynecol Pathol] 2014 Nov; Vol. 33 (6), pp. 560-7.
Publication Year :
2014

Abstract

The contemporary oncologic pathology report conveys diagnostic, prognostic, predictive, and hereditary predisposition information. Each component may be premised on a morphologic feature or a biomarker. Clinical validity and reproducibility are paramount as is standardization of reporting and clinical response to ensure individualization of patient care. Regarding hereditary predisposition, morphology-based genetic referral systems in some instances have eclipsed genealogy-based systems, for example, cell type in ovarian cancer and BRCA screening. In other instances such as Lynch syndrome, morphology-based schemas supplement clinical schemas and there is an emerging standard of care for reflex biomarker testing. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome predisposes patients to uterine and cutaneous leiomyomas (LMs) and renal cell carcinomas (RCCs). Several authors have emphasized the role pathologists may play in identifying this syndrome by recognizing the morphologic characteristics of syndromic uterine LMs and RCCs. Recently immunohistochemical overexpression of S-(2-succinyl) cysteine (2SC) has been demonstrated as a robust biomarker of mutation status in tumors from HLRCC patients. In this blinded control-cohort study we demonstrate that the proposed morphologic criteria used to identify uterine LMs in HLRCC syndrome are largely irreproducible among pathologists and lack sufficient robustness to serve as a trigger to triage cases for 2SC immunohistochemistry or patients for further family/personal history inquiry. Although refinement of morphologic criteria can be considered, in view of the availability of a clinically robust biomarker, consideration should be given to reflex testing of uterine LMs with an appropriate age cut off or in the setting of a suspicious family history.

Details

Language :
English
ISSN :
1538-7151
Volume :
33
Issue :
6
Database :
MEDLINE
Journal :
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
Publication Type :
Academic Journal
Accession number :
25272294
Full Text :
https://doi.org/10.1097/PGP.0000000000000091