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

2019 ◽  
Vol 15 (1) ◽  
pp. 73-77
Author(s):  
T. T. Andabekov ◽  
M. K. Rodina ◽  
G. A. Raskin ◽  
K. G. Cham ◽  
I. O. Rutkin
Keyword(s):  
Endometrial Cancer ◽  
Partial Response ◽  
Mismatch Repair ◽  
Malignant Tumors ◽  
Short Review ◽  
Endometrioid Adenocarcinoma ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Anticancer Treatment

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.

scholarly journals Practical guidance for mismatch repair-deficiency testing in endometrial cancer

2017 ◽  
Vol 28 (1) ◽  
pp. 96-102 ◽  
Author(s):  
E. Stelloo ◽  
A.M.L. Jansen ◽  
E.M. Osse ◽  
R.A. Nout ◽  
C.L. Creutzberg ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Mismatch Repair ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Practical Guidance

Mismatch Repair Deficiency in Endometrial Cancer

2019 ◽  
Vol 27 (9) ◽  
pp. 678-682
Author(s):  
Raoudha Doghri ◽  
Yoldez Houcine ◽  
Nadia Boujelbène ◽  
Maha Driss ◽  
Lamia Charfi ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Mismatch Repair ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency

scholarly journals DNA Mismatch Repair Deficiency in Rectal Cancer: Benchmarking Its Impact on Prognosis, Neoadjuvant Response Prediction, and Clinical Cancer Genetics

2016 ◽  
Vol 34 (25) ◽  
pp. 3039-3046 ◽  
Author(s):  
Nicole de Rosa ◽  
Miguel A. Rodriguez-Bigas ◽  
George J. Chang ◽  
Jula Veerapong ◽  
Ester Borras ◽  
...  
Keyword(s):  
Rectal Cancer ◽  
Mismatch Repair ◽  
Pathologic Response ◽  
Mismatch Repair Deficiency ◽  
Cancer Specific Survival ◽  
Dna Mismatch ◽  
Repair Deficiency ◽  
Rectal Cancers ◽  
Dna Mismatch Repair Deficiency

Purpose DNA mismatch repair deficiency (dMMR) hallmarks consensus molecular subtype 1 of colorectal cancer. It is being routinely tested, but little is known about dMMR rectal cancers. The efficacy of novel treatment strategies cannot be established without benchmarking the outcomes of dMMR rectal cancer with current therapy. We aimed to delineate the impact of dMMR on prognosis, the predicted response to fluoropyrimidine-based neoadjuvant therapy, and implications of germline alterations in the MMR genes in rectal cancer. Methods Between 1992 and 2012, 62 patients with dMMR rectal cancers underwent multimodality therapy. Oncologic treatment and outcomes as well as clinical genetics work-up were examined. Overall and rectal cancer–specific survival were calculated by the Kaplan-Meier method. Results The median age at diagnosis was 41 years. MMR deficiency was most commonly due to alterations in MSH2 (53%) or MSH6 (23%). After a median follow-up of 6.8 years, the 5-year rectal cancer–specific survival was 100% for stage I and II, 85.1% for stage III, and 60.0% for stage IV disease. Fluoropyrimidine-based neoadjuvant chemoradiation was associated with a complete pathologic response rate of 27.6%. The extent of surgical resection was influenced by synchronous colonic disease at presentation, tumor height, clinical stage, and pelvic radiation. An informed decision for a limited resection focusing on proctectomy did not compromise overall survival. Five of the 11 (45.5%) deaths during follow-up were due to extracolorectal malignancies. Conclusion dMMR rectal cancer had excellent prognosis and pathologic response with current multimodality therapy including an individualized surgical treatment plan. Identification of a dMMR rectal cancer should trigger germline testing, followed by lifelong surveillance for both colorectal and extracolorectal malignancies. We herein provide genotype-specific outcome benchmarks for comparison with novel interventions.

Clinical characterization of DNA mismatch repair deficiency (MMR-D) in endometrial cancer (EC).

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 1522-1522
Author(s):  
Karen Anne Cadoo ◽  
Christina Tran ◽  
Deborah DeLair ◽  
Angela G. Arnold ◽  
Asad Ashraf ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Mismatch Repair ◽  
Dna Mismatch Repair ◽  
Mismatch Repair Deficiency ◽  
Dna Mismatch ◽  
Repair Deficiency ◽  
Dna Mismatch Repair Deficiency

scholarly journals Retroactive assessment for DNA mismatch repair deficiency in women with a history of endometrial cancer

2021 ◽  
Vol 9 (4) ◽  
Author(s):  
Y. Chen ◽  
Sushmita Gordhandas ◽  
Kelsey Musselman ◽  
Zhen Zhou ◽  
Brandon Maddy ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Mismatch Repair ◽  
Gynecologic Oncology ◽  
Molecular Classification ◽  
Pathogenic Mutation ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Mismatch Repair Proteins

Objectives. Beginning in 2014, the Society of Gynecologic Oncology and the American College of Obstetricians and Gynecologists have recommended universal tumor testing for mismatch repair deficiency in endometrial cancer. Mismatch repair testing can triage patients who may benefit from genetic testing for Lynch syndrome. Many women previously diagnosed with endometrial cancer have not undergone mismatch repair tumor testing. We sought to determine the feasibility of retroactive assessment for mismatch repair deficiency among women with diagnosed with endometrial cancer prior to 2014. Methods. Between 2016 and 2018, we identified 36 patients presenting for gynecologic oncology follow-up visits who were previously diagnosed with endometrial cancer. The endometrial pathology underwent tumor assessment for loss of expression of mismatch repair proteins by immunohistochemistry. Patients with abnormal mismatch repair testing were referred to genetic counseling and, if indicated, for germline genetic testing. Results. Thirty-six patients underwent retroactive tumor immunohistochemistry, yielding 10 (28%) abnormal results, including nine (25%) with loss of one or more mismatch repair proteins and one with inconclusive staining (2.8%). All ten patients with abnormal immunohistochemistry were referred to genetic counseling; 9 (90%) accepted the referral and proceeded with genetic testing. One pathogenic mutation was identified in CHEK2 (11%). Five patients (56%) were found to have a variant of unknown significance. Conclusions. Implementation of universal retroactive tumor testing for mismatch repair deficiency in patients previously diagnosed with endometrial cancer is feasible. With the growing use of new molecular classification protocols for endometrial tumors, identification of mismatch repair deficiency may have significant clinicopathologic implications.

scholarly journals Clinicopathologic features of endometrial cancer with mismatch repair deficiency

2020 ◽  
Vol 14 ◽  
Author(s):  
Sushmita Gordhandas ◽  
Ryan M Kahn ◽  
Charlotte Gamble ◽  
Nizam Talukdar ◽  
Brandon Maddy ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Mismatch Repair ◽  
Clinicopathologic Features ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency
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