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Mismatch repair cancer syndrome 2(MMRCS2)

MedGen UID:
1750327
•Concept ID:
C5436806
•
Disease or Syndrome
Synonyms: mismatch repair cancer syndrome 2; MMRCS2
 
Gene (location): MSH2 (2p21-16.3)
 
Monarch Initiative: MONDO:0030840
OMIM®: 619096

Definition

Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; 162200) may be present. Microsatellite instability may be detected in tumor samples (Muller et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 (276300). [from OMIM]

Clinical features

From HPO
T-cell acute lymphoblastic leukemia
MedGen UID:
368378
•Concept ID:
C1961099
•
Neoplastic Process
Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.
See: Feature record | Search on this feature
Colon cancer
MedGen UID:
2839
•Concept ID:
C0007102
•
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
See: Feature record | Search on this feature
Glioblastoma multiforme
MedGen UID:
301585
•Concept ID:
C1621958
•
Neoplastic Process
A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.
See: Feature record | Search on this feature
Cafe au lait spots, multiple
MedGen UID:
396266
•Concept ID:
C1861975
•
Disease or Syndrome
The presence of six or more cafe-au-lait spots.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

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
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
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

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
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
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
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

Diagnosis

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
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
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
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
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
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
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
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
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
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

Mismatch-repair deficiency, microsatellite instability, and lynch syndrome in ovarian cancer: A systematic review and meta-analysis.
Mitric C, Salman L, Abrahamyan L, Kim SR, Pechlivanoglou P, Chan KKW, Gien LT, Ferguson SE
Gynecol Oncol 2023 Mar;170:133-142. Epub 2023 Jan 20 doi: 10.1016/j.ygyno.2022.12.008. PMID: 36682091
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
The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.
Atwal A, Snowsill T, Dandy MC, Krum T, Newton C, Evans DG, Crosbie EJ, Ryan NAJ
Int J Cancer 2022 Nov 1;151(9):1626-1639. Epub 2022 Jul 6 doi: 10.1002/ijc.34165. PMID: 35792468Free 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

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