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Turcot syndrome(CMMRDS)

MedGen UID:
78553
•Concept ID:
C0265325
•
Disease or Syndrome
Synonyms: Constitutional mismatch repair deficiency syndrome; Mismatch repair cancer syndrome
SNOMED CT: Turcot syndrome (61665008); Turcot's syndrome (61665008)
 
Related genes: PMS2, MSH2, MLH1, MSH6
 
Monarch Initiative: MONDO:0031219
OMIM®: 276300
OMIM® Phenotypic series: PS276300

Definition

An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis. [from NCI]

Professional guidelines

PubMed

A contemporary review of molecular candidates for the development and treatment of childhood medulloblastoma.
Sümer-Turanlıgil NC, Cetin EÖ, Uyanıkgil Y
Childs Nerv Syst 2013 Mar;29(3):381-8. Epub 2013 Jan 6 doi: 10.1007/s00381-012-2014-3. PMID: 23292496
Gardner syndrome: skin manifestations, differential diagnosis and management.
Juhn E, Khachemoune A
Am J Clin Dermatol 2010;11(2):117-22. doi: 10.2165/11311180-000000000-00000. PMID: 20141232
Hereditary colorectal cancer: risk assessment and management.
Hampel H, Peltomaki P
Clin Genet 2000 Aug;58(2):89-97. doi: 10.1034/j.1399-0004.2000.580201.x. PMID: 11005140

Recent clinical studies

Etiology

Mismatch Repair Deficiency as a Predictive and Prognostic Biomarker in Endometrial Cancer: A Review on Immunohistochemistry Staining Patterns and Clinical Implications.
Addante F, d'Amati A, Santoro A, Angelico G, Inzani F, Arciuolo D, Travaglino A, Raffone A, D'Alessandris N, Scaglione G, Valente M, Tinnirello G, Sfregola S, Padial Urtueta B, Piermattei A, Cianfrini F, Mulè A, Bragantini E, Zannoni GF
Int J Mol Sci 2024 Jan 15;25(2) doi: 10.3390/ijms25021056. PMID: 38256131Free PMC Article
Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers.
Riedinger CJ, Esnakula A, Haight PJ, Suarez AA, Chen W, Gillespie J, Villacres A, Chassen A, Cohn DE, Goodfellow PJ, Cosgrove CM
Cancer 2024 Feb 1;130(3):385-399. Epub 2023 Sep 26 doi: 10.1002/cncr.35030. PMID: 37751191Free PMC Article
Neoplasia risk in patients with Lynch syndrome treated with immune checkpoint blockade.
Harrold EC, Foote MB, Rousseau B, Walch H, Kemel Y, Richards AL, Keane F, Cercek A, Yaeger R, Rathkopf D, Segal NH, Patel Z, Maio A, Borio M, O'Reilly EM, Reidy D, Desai A, Janjigian YY, Murciano-Goroff YR, Carlo MI, Latham A, Liu YL, Walsh MF, Ilson D, Rosenberg JE, Markowitz AJ, Weiser MR, Rossi AM, Vanderbilt C, Mandelker D, Bandlamudi C, Offit K, Berger MF, Solit DB, Saltz L, Shia J, Diaz LA Jr, Stadler ZK
Nat Med 2023 Oct;29(10):2458-2463. Epub 2023 Oct 16 doi: 10.1038/s41591-023-02544-9. PMID: 37845474Free PMC Article
Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators
N Engl J Med 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. PMID: 33264544
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935

Diagnosis

Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers.
Riedinger CJ, Esnakula A, Haight PJ, Suarez AA, Chen W, Gillespie J, Villacres A, Chassen A, Cohn DE, Goodfellow PJ, Cosgrove CM
Cancer 2024 Feb 1;130(3):385-399. Epub 2023 Sep 26 doi: 10.1002/cncr.35030. PMID: 37751191Free PMC Article
Neoplasia risk in patients with Lynch syndrome treated with immune checkpoint blockade.
Harrold EC, Foote MB, Rousseau B, Walch H, Kemel Y, Richards AL, Keane F, Cercek A, Yaeger R, Rathkopf D, Segal NH, Patel Z, Maio A, Borio M, O'Reilly EM, Reidy D, Desai A, Janjigian YY, Murciano-Goroff YR, Carlo MI, Latham A, Liu YL, Walsh MF, Ilson D, Rosenberg JE, Markowitz AJ, Weiser MR, Rossi AM, Vanderbilt C, Mandelker D, Bandlamudi C, Offit K, Berger MF, Solit DB, Saltz L, Shia J, Diaz LA Jr, Stadler ZK
Nat Med 2023 Oct;29(10):2458-2463. Epub 2023 Oct 16 doi: 10.1038/s41591-023-02544-9. PMID: 37845474Free PMC Article
Mismatch repair deficiency: The what, how and why it is important.
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Greten TF, Duffy AG, Ciombor KK, Eyring AD, Lam BH, Joe A, Kang SP, Holdhoff M, Danilova L, Cope L, Meyer C, Zhou S, Goldberg RM, Armstrong DK, Bever KM, Fader AN, Taube J, Housseau F, Spetzler D, Xiao N, Pardoll DM, Papadopoulos N, Kinzler KW, Eshleman JR, Vogelstein B, Anders RA, Diaz LA Jr
Science 2017 Jul 28;357(6349):409-413. Epub 2017 Jun 8 doi: 10.1126/science.aan6733. PMID: 28596308Free PMC Article

Therapy

Treatment options for molecular subtypes of endometrial cancer in 2023.
Karpel HC, Slomovitz B, Coleman RL, Pothuri B
Curr Opin Obstet Gynecol 2023 Jun 1;35(3):270-278. Epub 2023 Mar 20 doi: 10.1097/GCO.0000000000000855. PMID: 36943683
Distinct Mechanisms of Mismatch-Repair Deficiency Delineate Two Modes of Response to Anti-PD-1 Immunotherapy in Endometrial Carcinoma.
Chow RD, Michaels T, Bellone S, Hartwich TMP, Bonazzoli E, Iwasaki A, Song E, Santin AD
Cancer Discov 2023 Feb 6;13(2):312-331. doi: 10.1158/2159-8290.CD-22-0686. PMID: 36301137Free PMC Article
Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators
N Engl J Med 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. PMID: 33264544
Immunotherapy, Inflammation and Colorectal Cancer.
Lichtenstern CR, Ngu RK, Shalapour S, Karin M
Cells 2020 Mar 4;9(3) doi: 10.3390/cells9030618. PMID: 32143413Free PMC Article
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Greten TF, Duffy AG, Ciombor KK, Eyring AD, Lam BH, Joe A, Kang SP, Holdhoff M, Danilova L, Cope L, Meyer C, Zhou S, Goldberg RM, Armstrong DK, Bever KM, Fader AN, Taube J, Housseau F, Spetzler D, Xiao N, Pardoll DM, Papadopoulos N, Kinzler KW, Eshleman JR, Vogelstein B, Anders RA, Diaz LA Jr
Science 2017 Jul 28;357(6349):409-413. Epub 2017 Jun 8 doi: 10.1126/science.aan6733. PMID: 28596308Free PMC Article

Prognosis

Mismatch Repair Deficiency as a Predictive and Prognostic Biomarker in Endometrial Cancer: A Review on Immunohistochemistry Staining Patterns and Clinical Implications.
Addante F, d'Amati A, Santoro A, Angelico G, Inzani F, Arciuolo D, Travaglino A, Raffone A, D'Alessandris N, Scaglione G, Valente M, Tinnirello G, Sfregola S, Padial Urtueta B, Piermattei A, Cianfrini F, Mulè A, Bragantini E, Zannoni GF
Int J Mol Sci 2024 Jan 15;25(2) doi: 10.3390/ijms25021056. PMID: 38256131Free PMC Article
Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment.
Taieb J, Svrcek M, Cohen R, Basile D, Tougeron D, Phelip JM
Eur J Cancer 2022 Nov;175:136-157. Epub 2022 Sep 14 doi: 10.1016/j.ejca.2022.07.020. PMID: 36115290
Mismatch repair deficiency: The what, how and why it is important.
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Greten TF, Duffy AG, Ciombor KK, Eyring AD, Lam BH, Joe A, Kang SP, Holdhoff M, Danilova L, Cope L, Meyer C, Zhou S, Goldberg RM, Armstrong DK, Bever KM, Fader AN, Taube J, Housseau F, Spetzler D, Xiao N, Pardoll DM, Papadopoulos N, Kinzler KW, Eshleman JR, Vogelstein B, Anders RA, Diaz LA Jr
Science 2017 Jul 28;357(6349):409-413. Epub 2017 Jun 8 doi: 10.1126/science.aan6733. PMID: 28596308Free PMC Article

Clinical prediction guides

Mismatch Repair Deficiency as a Predictive and Prognostic Biomarker in Endometrial Cancer: A Review on Immunohistochemistry Staining Patterns and Clinical Implications.
Addante F, d'Amati A, Santoro A, Angelico G, Inzani F, Arciuolo D, Travaglino A, Raffone A, D'Alessandris N, Scaglione G, Valente M, Tinnirello G, Sfregola S, Padial Urtueta B, Piermattei A, Cianfrini F, Mulè A, Bragantini E, Zannoni GF
Int J Mol Sci 2024 Jan 15;25(2) doi: 10.3390/ijms25021056. PMID: 38256131Free PMC Article
Neoplasia risk in patients with Lynch syndrome treated with immune checkpoint blockade.
Harrold EC, Foote MB, Rousseau B, Walch H, Kemel Y, Richards AL, Keane F, Cercek A, Yaeger R, Rathkopf D, Segal NH, Patel Z, Maio A, Borio M, O'Reilly EM, Reidy D, Desai A, Janjigian YY, Murciano-Goroff YR, Carlo MI, Latham A, Liu YL, Walsh MF, Ilson D, Rosenberg JE, Markowitz AJ, Weiser MR, Rossi AM, Vanderbilt C, Mandelker D, Bandlamudi C, Offit K, Berger MF, Solit DB, Saltz L, Shia J, Diaz LA Jr, Stadler ZK
Nat Med 2023 Oct;29(10):2458-2463. Epub 2023 Oct 16 doi: 10.1038/s41591-023-02544-9. PMID: 37845474Free PMC Article
Mismatch repair deficiency: The what, how and why it is important.
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators
N Engl J Med 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. PMID: 33264544
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Greten TF, Duffy AG, Ciombor KK, Eyring AD, Lam BH, Joe A, Kang SP, Holdhoff M, Danilova L, Cope L, Meyer C, Zhou S, Goldberg RM, Armstrong DK, Bever KM, Fader AN, Taube J, Housseau F, Spetzler D, Xiao N, Pardoll DM, Papadopoulos N, Kinzler KW, Eshleman JR, Vogelstein B, Anders RA, Diaz LA Jr
Science 2017 Jul 28;357(6349):409-413. Epub 2017 Jun 8 doi: 10.1126/science.aan6733. PMID: 28596308Free PMC Article

Recent systematic reviews

Unexplained mismatch repair deficiency: Case closed.
Eikenboom EL, Moen S, van Leeuwen L, Geurts-Giele WRR, Tops CMJ, van Ham TJ, Dinjens WNM, Dubbink HJ, Spaander MCW, Wagner A
HGG Adv 2023 Jan 12;4(1):100167. Epub 2022 Dec 14 doi: 10.1016/j.xhgg.2022.100167. PMID: 36624813Free PMC Article
Validity of a two-antibody testing algorithm for mismatch repair deficiency testing in cancer; a systematic literature review and meta-analysis.
Aiyer KTS, Doeleman T, Ryan NA, Nielsen M, Crosbie EJ, Smit VTHBM, Morreau H, Goeman JJ, Bosse T
Mod Pathol 2022 Dec;35(12):1775-1783. Epub 2022 Sep 14 doi: 10.1038/s41379-022-01149-w. PMID: 36104536Free PMC Article
Adjuvant Therapy for Stage II Colon Cancer: ASCO Guideline Update.
Baxter NN, Kennedy EB, Bergsland E, Berlin J, George TJ, Gill S, Gold PJ, Hantel A, Jones L, Lieu C, Mahmoud N, Morris AM, Ruiz-Garcia E, You YN, Meyerhardt JA
J Clin Oncol 2022 Mar 10;40(8):892-910. Epub 2021 Dec 22 doi: 10.1200/JCO.21.02538. PMID: 34936379
Adjuvant Chemotherapy for Gastric Cancer Patients with Mismatch Repair Deficiency or Microsatellite Instability: Systematic Review and Meta-Analysis.
Nie RC, Chen GM, Yuan SQ, Kim JW, Zhou J, Nie M, Feng CY, Chen YB, Chen S, Zhou ZW, Wang Y, Li YF
Ann Surg Oncol 2022 Apr;29(4):2324-2331. Epub 2021 Nov 18 doi: 10.1245/s10434-021-11050-6. PMID: 34796431
The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis.
Ryan NAJ, Glaire MA, Blake D, Cabrera-Dandy M, Evans DG, Crosbie EJ
Genet Med 2019 Oct;21(10):2167-2180. Epub 2019 May 14 doi: 10.1038/s41436-019-0536-8. PMID: 31086306Free PMC Article

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