Discordant loss of mismatch repair proteins in advanced endometrial endometrioid carcinoma compared to paired primary uterine tumors

Ta, Robert; Lin, Douglas I.

doi:10.1016/j.ygyno.2018.10.012

Cited by 26 publications

(22 citation statements)

References 27 publications

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“…24 The study did not evaluate MMR-proficient tumours. Another study A1 A2 A3 B3 B2 B1 25 In both cases, there was dMMR in the recurrence and intact expression in the primary tumour. However, the primary tumour in both cases was subsequently found to have subclonal loss of MLH1 due to MLH1 promoter hypermethylation.…”

Section: Discussionmentioning

confidence: 89%

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Should you repeat mismatch repair testing in cases of tumour recurrence? An evaluation of repeat mismatch repair testing by the use of immunohistochemistry in recurrent tumours of the gastrointestinal and gynaecological tracts

Aird

Steel

Chow³

et al. 2020

Histopathology

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Aims The role of mismatch repair (MMR) testing has evolved from identifying Lynch syndrome patients to predicting response to immune checkpoint inhibitors. This has led to requests from clinicians to retest recurrences of MMR‐proficient primary tumours in the hope that the recurrence may show a different MMR status and qualify the patient for treatment. We aimed to determine whether repeat testing is warranted. Methods and results We evaluated recurrent tumours (local recurrences or metastases) from 137 patients with MMR‐proficient primary tumours of the gastrointestinal and gynaecological tracts. The local recurrences and metastases all occurred at least 30 days after resection of the primary tumour. We used a combination of a tissue microarray and whole slide staining to perform immunohistochemistry (IHC) for PMS2, MLH1, MSH2, and MSH6, and compared the results with the MMR status of the primary tumour. Three of 137 (2%) initially showed a discordant staining pattern. However, further investigation showed that these discordances were attributable to some of the known pitfalls associated with MMR IHC interpretation – post‐radiotherapy loss of MSH6 expression and subclonal loss of MLH1 staining. We did not identify any cases with a genuine discordance in MMR status. Conclusion We conclude that repeat MMR IHC testing of recurrences is not warranted, as MMR status does not change relative to that of the primary tumour.

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Section: Discussionmentioning

confidence: 89%

“…The study did not evaluate MMR‐proficient tumours. Another study investigated 29 paired primary endometrial endometrioid adenocarcinomas, and reported discordance in MMR status in two of 29 cases . In both cases, there was dMMR in the recurrence and intact expression in the primary tumour.…”

Section: Discussionmentioning

confidence: 99%

Should you repeat mismatch repair testing in cases of tumour recurrence? An evaluation of repeat mismatch repair testing by the use of immunohistochemistry in recurrent tumours of the gastrointestinal and gynaecological tracts

Aird

Steel

Chow³

et al. 2020

Histopathology

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“…Так, в исследовании R. M. Ta и соавт. MSI-h была выявлена в 14 (48,2 %) из 29 случаев метастатического / рецидивного эндометриоидного рака [13]. В данном исследовании показано, что первичные опухоли могут отличаться по MSI-h / dMMR-статусу от метастатических / рецидивных опухолей.…”

Section: Discussionunclassified

“…В данном исследовании показано, что первичные опухоли могут отличаться по MSI-h / dMMR-статусу от метастатических / рецидивных опухолей. Дискордантность результатов тестирования dMMR между первичными и метастатическими опухолями составила 6,9 % [13]. Таким образом, при наличии возможности выполнения биопсии определение MSI-h / dMMR следует проводить на момент принятия решения о возможности иммуноонкологической терапии опухоли.…”

Section: Discussionunclassified

Successful anti-PD-1 therapy in metastatic endometrial cancer with microsatellite instability: a case report

Андабеков¹,

Родина²,

Раскин³

et al. 2019

Opuholi ženskoj reproduktivnoj sistemy

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High efficacy of anti-PD-1 therapy has been shown in malignant tumors with mismatch repair deficiency. According to the literature review, mismatch repair deficiency is determined in 20–40 % of all endometrial cancer cases and up to 48 % of its endometrioid subtype. We report the short review of the recent literature and the case of durable partial response on pembrolizumab immunotherapy in a patient with a metastatic endometrioid adenocarcinoma with MMR-deficiency progressed on 2 chemotherapy lines. Partial response was achieved after 6th course, treatment was stopped after 8th course. Patient is on follow-up without any anticancer treatment for 11 months. Partial response lasts for 13 months, with further reduction in tumor size. The treatment was well tolerated without adverse events.

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“…80 % der EC durch die Primärtherapie geheilt werden und bei diesen eine Systemtherapie mit Checkpoint-Inhibitoren nicht erforderlich ist. Bei den EC-Fällen, die eine medikamentöse Therapie benötigen, könnte dann die MSI-Analytik aus dem Tumormaterial des Rezidivs durchgeführt werden [27,28]. Wenn sich in der Zukunft eine generelle molekulare Typisierung der EC durchsetzen sollte, würde die Erfassung der MSI zur Standarddiagnostik in der Primärerkrankung gehören [29,30].…”

Section: Merkeunclassified

Das Lynch-Syndrom als bedeutendes erbliches Tumorsyndrom

Emons¹

2020

Frauenheilkunde up2date

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Discordant loss of mismatch repair proteins in advanced endometrial endometrioid carcinoma compared to paired primary uterine tumors

Cited by 26 publications

References 27 publications

Should you repeat mismatch repair testing in cases of tumour recurrence? An evaluation of repeat mismatch repair testing by the use of immunohistochemistry in recurrent tumours of the gastrointestinal and gynaecological tracts

Should you repeat mismatch repair testing in cases of tumour recurrence? An evaluation of repeat mismatch repair testing by the use of immunohistochemistry in recurrent tumours of the gastrointestinal and gynaecological tracts

Successful anti-PD-1 therapy in metastatic endometrial cancer with microsatellite instability: a case report

Das Lynch-Syndrom als bedeutendes erbliches Tumorsyndrom

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