sábado, 2 de septiembre de 2017

Clinical characteristics of Lynch-like cases collaterally classified by Lynch syndrome identification strategy using universal screening in endomet... - PubMed - NCBI

2017 Aug 25. pii: S0090-8258(17)31254-4. doi: 10.1016/j.ygyno.2017.08.016. [Epub ahead of print]

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

Takahashi K1, Sato N2, Sugawara T3, Kato A2, Sato T2, Shimizu D2, Tamura D2, Kito M4, Makino K2, Shirasawa H2, Miura H2, Sato W2, Kumazawa Y2, Sato A2, Terada Y2.

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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.