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Gynecol Oncol. 2017 Nov;147(2):388-395. doi: 10.1016/j.ygyno.2017.08.016. Epub 2017 Aug 25.

Clinical characteristics of Lynch-like cases collaterally classified by Lynch syndrome identification strategy using universal screening in endometrial cancer.

Author information

1
Department of Obstetrics and Gynecology, Akita University Graduate School of Medicine, Akita, Japan. Electronic address: skazue5963@yahoo.ac.jp.
2
Department of Obstetrics and Gynecology, Akita University Graduate School of Medicine, Akita, Japan.
3
Department of Obstetrics and Gynecology, Akita city General Hospital, Akita, Japan.
4
Department of Obstetrics and Gynecology, Noshiro Kosei Medical Center, Akita, Japan.

Abstract

OBJECTIVE:

Lynch syndrome (LS), an autosomal-dominant inherited disorder, increases the risk for LS-associated cancers (LS-AC). Molecular LS assessment for all cases is referred to as universal screening (U/S) and is recommended for endometrial cancer (EC) and colorectal cancer. Lynch-like cases (LL) lack LS-pathogenic mutations despite being suspected as LS by U/S, but have been poorly investigated in EC. The aim of this study was to capture the features of LL in EC and to devise LL management in EC.

METHODS:

U/S, consisting of immunohistochemistry and reflex methylation analysis, was applied to 348 Asian ECs, and sporadic cancer (SC) cases were screened out. Genetic testing was offered to "suspected-LS" cases selected by U/S. The features of the LS, LL, and SC groups were recorded and compared.

RESULTS:

U/S screened 306 ECs as SC. The recurrence rates of suspected-LS and SC cases were 14.3% (6/42) and 26.5% (81/306), respectively. Of the 42 suspected-LS cases, 10 were identified as LS, 17 were classified as LL, and 15 did not undergo genetic testing. In the LS group, the frequency of personal history (50%) and family history (100%) of LS-AC were prominent. Of note, the prevalence of family history of LS-AC and gastric cancer was significantly higher in the LL group than in the SC group (76.5% vs. 38.6% and 47.1% vs. 25.2%, respectively).

CONCLUSIONS:

Herein, we report the features of LL classified by LS identification via U/S in Asian EC. LL should be candidates for tailored surveillance based on regionality and family history.

KEYWORDS:

Endometrial cancer; Gastric cancer; Immunohistochemistry; Lynch syndrome; Lynch-like case

PMID:
28847642
DOI:
10.1016/j.ygyno.2017.08.016
[Indexed for MEDLINE]

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