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Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma

MedGen UID:
1792873
•Concept ID:
C5556432
•
Neoplastic Process
Synonym: Mismatch Repair-Deficient Endometrial Endometrioid Carcinoma

Definition

An endometrial endometrioid adenocarcinoma characterized by mismatch repair (MMR) deficiency caused by inactivating methylation or less frequently mutation of an MMR gene (MLH1, PMS2, MSH2, or MSH6). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma

Professional guidelines

PubMed

Molecular classification and adjuvant treatment in endometrioid endometrial cancer with microcystic elongated and fragmented (MELF) invasion pattern.
Jia P, Zhang Y
BMC Womens Health 2024 Nov 15;24(1):607. doi: 10.1186/s12905-024-03449-6. PMID: 39548429Free PMC Article
Incorporation of molecular characteristics into endometrial cancer management.
Vermij L, Smit V, Nout R, Bosse T
Histopathology 2020 Jan;76(1):52-63. doi: 10.1111/his.14015. PMID: 31846532Free PMC Article

Recent clinical studies

Etiology

Corded and hyalinized endometrioid endometrial carcinoma with high-grade features: a clinicopathological and TCGA-based molecular analysis.
Travaglino A, Arciuolo D, Santoro A, Raffone A, Pedone Anchora L, Piermattei A, Martinelli M, Mollo A, Onori ME, Minucci A, Inzani F, Fanfani F, Insabato L, Zannoni GF
Virchows Arch 2023 Apr;482(4):671-678. Epub 2022 Dec 23 doi: 10.1007/s00428-022-03472-8. PMID: 36550216
Prognostic value of the TCGA molecular classification in uterine carcinosarcoma.
Travaglino A, Raffone A, Raimondo D, Arciuolo D, Angelico G, Valente M, Scaglione G, D'alessandris N, Casadio P, Inzani F, Mollo A, Santoro A, Seracchioli R, Franco Zannoni G
Int J Gynaecol Obstet 2022 Jul;158(1):13-20. Epub 2021 Oct 11 doi: 10.1002/ijgo.13937. PMID: 34536971Free PMC Article
Mismatch repair deficiency and prognostic significance in patients with low-risk endometrioid endometrial cancers.
Kim SR, Pina A, Albert A, McAlpine JN, Wolber R, Gilks B, Carey MS, Kwon JS
Int J Gynecol Cancer 2020 Jun;30(6):783-788. Epub 2020 Apr 30 doi: 10.1136/ijgc-2019-000910. PMID: 32354793
Incorporation of molecular characteristics into endometrial cancer management.
Vermij L, Smit V, Nout R, Bosse T
Histopathology 2020 Jan;76(1):52-63. doi: 10.1111/his.14015. PMID: 31846532Free PMC Article
Endometrial Carcinoma Diagnosis: Use of FIGO Grading and Genomic Subcategories in Clinical Practice: Recommendations of the International Society of Gynecological Pathologists.
Soslow RA, Tornos C, Park KJ, Malpica A, Matias-Guiu X, Oliva E, Parkash V, Carlson J, McCluggage WG, Gilks CB
Int J Gynecol Pathol 2019 Jan;38 Suppl 1(Iss 1 Suppl 1):S64-S74. doi: 10.1097/PGP.0000000000000518. PMID: 30550484Free PMC Article

Diagnosis

Prognostic value of the TCGA molecular classification in uterine carcinosarcoma.
Travaglino A, Raffone A, Raimondo D, Arciuolo D, Angelico G, Valente M, Scaglione G, D'alessandris N, Casadio P, Inzani F, Mollo A, Santoro A, Seracchioli R, Franco Zannoni G
Int J Gynaecol Obstet 2022 Jul;158(1):13-20. Epub 2021 Oct 11 doi: 10.1002/ijgo.13937. PMID: 34536971Free PMC Article
Endometrial cancer in Lynch syndrome.
Zhao S, Chen L, Zang Y, Liu W, Liu S, Teng F, Xue F, Wang Y
Int J Cancer 2022 Jan 1;150(1):7-17. Epub 2021 Sep 9 doi: 10.1002/ijc.33763. PMID: 34398969
Mismatch repair deficiency and prognostic significance in patients with low-risk endometrioid endometrial cancers.
Kim SR, Pina A, Albert A, McAlpine JN, Wolber R, Gilks B, Carey MS, Kwon JS
Int J Gynecol Cancer 2020 Jun;30(6):783-788. Epub 2020 Apr 30 doi: 10.1136/ijgc-2019-000910. PMID: 32354793
Incorporation of molecular characteristics into endometrial cancer management.
Vermij L, Smit V, Nout R, Bosse T
Histopathology 2020 Jan;76(1):52-63. doi: 10.1111/his.14015. PMID: 31846532Free PMC Article
Endometrial Carcinoma Diagnosis: Use of FIGO Grading and Genomic Subcategories in Clinical Practice: Recommendations of the International Society of Gynecological Pathologists.
Soslow RA, Tornos C, Park KJ, Malpica A, Matias-Guiu X, Oliva E, Parkash V, Carlson J, McCluggage WG, Gilks CB
Int J Gynecol Pathol 2019 Jan;38 Suppl 1(Iss 1 Suppl 1):S64-S74. doi: 10.1097/PGP.0000000000000518. PMID: 30550484Free PMC Article

Therapy

TCGA molecular subgroups of endometrial carcinoma in ovarian endometrioid carcinoma: A quantitative systematic review.
D'Alessandris N, Travaglino A, Santoro A, Arciuolo D, Scaglione G, Raffone A, Inzani F, Zannoni GF
Gynecol Oncol 2021 Nov;163(2):427-432. Epub 2021 Aug 24 doi: 10.1016/j.ygyno.2021.08.011. PMID: 34446267
Incorporation of molecular characteristics into endometrial cancer management.
Vermij L, Smit V, Nout R, Bosse T
Histopathology 2020 Jan;76(1):52-63. doi: 10.1111/his.14015. PMID: 31846532Free PMC Article
Nivolumab Is Effective in Mismatch Repair-Deficient Noncolorectal Cancers: Results From Arm Z1D-A Subprotocol of the NCI-MATCH (EAY131) Study.
Azad NS, Gray RJ, Overman MJ, Schoenfeld JD, Mitchell EP, Zwiebel JA, Sharon E, Streicher H, Li S, McShane LM, Rubinstein L, Patton DR, Williams PM, Coffey B, Hamilton SR, Bahary N, Suga JM, Hatoum H, Abrams JS, Conley BA, Arteaga CL, Harris L, O'Dwyer PJ, Chen AP, Flaherty KT
J Clin Oncol 2020 Jan 20;38(3):214-222. Epub 2019 Nov 25 doi: 10.1200/JCO.19.00818. PMID: 31765263Free PMC Article
Dedifferentiated Endometrial Carcinoma Could be A Target for Immune Checkpoint Inhibitors (Anti PD-1/PD-L1 Antibodies).
Ono R, Nakayama K, Nakamura K, Yamashita H, Ishibashi T, Ishikawa M, Minamoto T, Razia S, Ishikawa N, Otsuki Y, Nakayama S, Onuma H, Kurioka H, Kyo S
Int J Mol Sci 2019 Jul 31;20(15) doi: 10.3390/ijms20153744. PMID: 31370215Free PMC Article
Chemotherapy for Endometrial Cancer in Adjuvant and Advanced Disease Settings.
Bestvina CM, Fleming GF
Oncologist 2016 Oct;21(10):1250-1259. Epub 2016 Jul 13 doi: 10.1634/theoncologist.2016-0062. PMID: 27412393Free PMC Article

Prognosis

Prognostic value of the TCGA molecular classification in uterine carcinosarcoma.
Travaglino A, Raffone A, Raimondo D, Arciuolo D, Angelico G, Valente M, Scaglione G, D'alessandris N, Casadio P, Inzani F, Mollo A, Santoro A, Seracchioli R, Franco Zannoni G
Int J Gynaecol Obstet 2022 Jul;158(1):13-20. Epub 2021 Oct 11 doi: 10.1002/ijgo.13937. PMID: 34536971Free PMC Article
Clear cell endometrial carcinomas with mismatch repair deficiency have a favorable prognosis: A systematic review and meta-analysis.
Travaglino A, Raffone A, Santoro A, Raimondo D, Angelico G, Valente M, Arciuolo D, Scaglione G, D'alessandris N, Casadio P, Inzani F, Mollo A, Seracchioli R, Zannoni GF
Gynecol Oncol 2021 Sep;162(3):804-808. Epub 2021 Jul 12 doi: 10.1016/j.ygyno.2021.07.007. PMID: 34266691
Mismatch repair deficiency and prognostic significance in patients with low-risk endometrioid endometrial cancers.
Kim SR, Pina A, Albert A, McAlpine JN, Wolber R, Gilks B, Carey MS, Kwon JS
Int J Gynecol Cancer 2020 Jun;30(6):783-788. Epub 2020 Apr 30 doi: 10.1136/ijgc-2019-000910. PMID: 32354793
Incorporation of molecular characteristics into endometrial cancer management.
Vermij L, Smit V, Nout R, Bosse T
Histopathology 2020 Jan;76(1):52-63. doi: 10.1111/his.14015. PMID: 31846532Free PMC Article
Endometrial Carcinoma Diagnosis: Use of FIGO Grading and Genomic Subcategories in Clinical Practice: Recommendations of the International Society of Gynecological Pathologists.
Soslow RA, Tornos C, Park KJ, Malpica A, Matias-Guiu X, Oliva E, Parkash V, Carlson J, McCluggage WG, Gilks CB
Int J Gynecol Pathol 2019 Jan;38 Suppl 1(Iss 1 Suppl 1):S64-S74. doi: 10.1097/PGP.0000000000000518. PMID: 30550484Free PMC Article

Clinical prediction guides

Molecular Classification Outperforms Histologic Classification in Prognostication of High-grade Endometrial Carcinomas With Undifferentiated and Sarcomatous Components.
Hammer PM, Wang A, Vermij L, Zdravkovic S, Heilbroner L, Ryan E, Geisick RLP, Charu V, Longacre TA, Suarez CJ, Ho C, Jenkins TM, Mills AM, Bosse T, Howitt BE
Am J Surg Pathol 2024 Aug 1;48(8):953-964. Epub 2024 May 23 doi: 10.1097/PAS.0000000000002250. PMID: 38780000
Clinical impact of genetic alterations of CTNNB1 in patients with grade 3 endometrial endometrioid carcinoma.
Kobayashi Kato M, Asami Y, Takayanagi D, Matsuda M, Shimada Y, Hiranuma K, Kuno I, Komatsu M, Hamamoto R, Matsumoto K, Ishikawa M, Kohno T, Kato T, Shiraishi K, Yoshida H
Cancer Sci 2022 May;113(5):1712-1721. Epub 2022 Mar 24 doi: 10.1111/cas.15328. PMID: 35278272Free PMC Article
Clear cell endometrial carcinomas with mismatch repair deficiency have a favorable prognosis: A systematic review and meta-analysis.
Travaglino A, Raffone A, Santoro A, Raimondo D, Angelico G, Valente M, Arciuolo D, Scaglione G, D'alessandris N, Casadio P, Inzani F, Mollo A, Seracchioli R, Zannoni GF
Gynecol Oncol 2021 Sep;162(3):804-808. Epub 2021 Jul 12 doi: 10.1016/j.ygyno.2021.07.007. PMID: 34266691
Endometrial Cancer Molecular Risk Stratification is Equally Prognostic for Endometrioid Ovarian Carcinoma.
Krämer P, Talhouk A, Brett MA, Chiu DS, Cairns ES, Scheunhage DA, Hammond RFL, Farnell D, Nazeran TM, Grube M, Xia Z, Senz J, Leung S, Feil L, Pasternak J, Dixon K, Hartkopf A, Krämer B, Brucker S, Heitz F, du Bois A, Harter P, Kommoss FKF, Sinn HP, Heublein S, Kommoss F, Vollert HW, Manchanda R, de Kroon CD, Nijman HW, de Bruyn M, Thompson EF, Bashashati A, McAlpine JN, Singh N, Tinker AV, Staebler A, Bosse T, Kommoss S, Köbel M, Anglesio MS
Clin Cancer Res 2020 Oct 15;26(20):5400-5410. Epub 2020 Jul 31 doi: 10.1158/1078-0432.CCR-20-1268. PMID: 32737030
Mismatch repair deficiency and prognostic significance in patients with low-risk endometrioid endometrial cancers.
Kim SR, Pina A, Albert A, McAlpine JN, Wolber R, Gilks B, Carey MS, Kwon JS
Int J Gynecol Cancer 2020 Jun;30(6):783-788. Epub 2020 Apr 30 doi: 10.1136/ijgc-2019-000910. PMID: 32354793

Recent systematic reviews

Prognostic value of the TCGA molecular classification in uterine carcinosarcoma.
Travaglino A, Raffone A, Raimondo D, Arciuolo D, Angelico G, Valente M, Scaglione G, D'alessandris N, Casadio P, Inzani F, Mollo A, Santoro A, Seracchioli R, Franco Zannoni G
Int J Gynaecol Obstet 2022 Jul;158(1):13-20. Epub 2021 Oct 11 doi: 10.1002/ijgo.13937. PMID: 34536971Free PMC Article
TCGA molecular subgroups of endometrial carcinoma in ovarian endometrioid carcinoma: A quantitative systematic review.
D'Alessandris N, Travaglino A, Santoro A, Arciuolo D, Scaglione G, Raffone A, Inzani F, Zannoni GF
Gynecol Oncol 2021 Nov;163(2):427-432. Epub 2021 Aug 24 doi: 10.1016/j.ygyno.2021.08.011. PMID: 34446267
Clear cell endometrial carcinomas with mismatch repair deficiency have a favorable prognosis: A systematic review and meta-analysis.
Travaglino A, Raffone A, Santoro A, Raimondo D, Angelico G, Valente M, Arciuolo D, Scaglione G, D'alessandris N, Casadio P, Inzani F, Mollo A, Seracchioli R, Zannoni GF
Gynecol Oncol 2021 Sep;162(3):804-808. Epub 2021 Jul 12 doi: 10.1016/j.ygyno.2021.07.007. PMID: 34266691
Histopathological characterization of ProMisE molecular groups of endometrial cancer.
Raffone A, Travaglino A, Mascolo M, Carotenuto C, Guida M, Mollo A, Insabato L, Zullo F
Gynecol Oncol 2020 Apr;157(1):252-259. Epub 2020 Jan 10 doi: 10.1016/j.ygyno.2020.01.008. PMID: 31932106

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