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Myelodysplastic Syndrome with Somatic Mutations

MedGen UID:
1716049
Concept ID:
C5239401
Neoplastic Process
Synonym: Myelodysplastic Syndrome with Point Mutations

Definition

A myelodysplastic syndrome characterized by the presence of a point mutation in one of the following genes, TP53, EZH2, ETV6, RUNX1, and ASXL1. These gene mutations are independent predictors of poor prognosis. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelodysplastic Syndrome with Somatic Mutations

Professional guidelines

PubMed

Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762
Garcia-Manero G, Chien KS, Montalban-Bravo G
Am J Hematol 2020 Nov;95(11):1399-1420. doi: 10.1002/ajh.25950. PMID: 32744763
Stauder R, Valent P, Theurl I
Blood 2018 Feb 1;131(5):505-514. Epub 2017 Nov 15 doi: 10.1182/blood-2017-07-746446. PMID: 29141943

Recent clinical studies

Etiology

Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
Li H, Hu F, Gale RP, Sekeres MA, Liang Y
Nat Rev Dis Primers 2022 Nov 17;8(1):74. doi: 10.1038/s41572-022-00402-5. PMID: 36396662
Peffault de Latour R, Kulasekararaj A, Iacobelli S, Terwel SR, Cook R, Griffin M, Halkes CJM, Recher C, Barraco F, Forcade E, Vallejo JC, Drexler B, Mear JB, Smith AE, Angelucci E, Raymakers RAP, de Groot MR, Daguindau E, Nur E, Barcellini W, Russell NH, Terriou L, Iori AP, La Rocca U, Sureda A, Sánchez-Ortega I, Xicoy B, Jarque I, Cavenagh J, Sicre de Fontbrune F, Marotta S, Munir T, Tjon JML, Tavitian S, Praire A, Clement L, Rabian F, Marano L, Hill A, Palmisani E, Muus P, Cacace F, Frieri C, van Lint MT, Passweg JR, Marsh JCW, Socié G, Mufti GJ, Dufour C, Risitano AM; Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation
N Engl J Med 2022 Jan 6;386(1):11-23. doi: 10.1056/NEJMoa2109965. PMID: 34986284
Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762
Lee P, Yim R, Yung Y, Chu HT, Yip PK, Gill H
Int J Mol Sci 2021 Sep 23;22(19) doi: 10.3390/ijms221910232. PMID: 34638574Free PMC Article

Diagnosis

Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
Al-Hakim A, Savic S
Expert Rev Clin Immunol 2023 Feb;19(2):203-215. Epub 2022 Dec 26 doi: 10.1080/1744666X.2023.2157262. PMID: 36537591
Li H, Hu F, Gale RP, Sekeres MA, Liang Y
Nat Rev Dis Primers 2022 Nov 17;8(1):74. doi: 10.1038/s41572-022-00402-5. PMID: 36396662
Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762
Brodsky RA
Blood 2014 Oct 30;124(18):2804-11. Epub 2014 Sep 18 doi: 10.1182/blood-2014-02-522128. PMID: 25237200Free PMC Article

Therapy

Li H, Hu F, Gale RP, Sekeres MA, Liang Y
Nat Rev Dis Primers 2022 Nov 17;8(1):74. doi: 10.1038/s41572-022-00402-5. PMID: 36396662
Peffault de Latour R, Kulasekararaj A, Iacobelli S, Terwel SR, Cook R, Griffin M, Halkes CJM, Recher C, Barraco F, Forcade E, Vallejo JC, Drexler B, Mear JB, Smith AE, Angelucci E, Raymakers RAP, de Groot MR, Daguindau E, Nur E, Barcellini W, Russell NH, Terriou L, Iori AP, La Rocca U, Sureda A, Sánchez-Ortega I, Xicoy B, Jarque I, Cavenagh J, Sicre de Fontbrune F, Marotta S, Munir T, Tjon JML, Tavitian S, Praire A, Clement L, Rabian F, Marano L, Hill A, Palmisani E, Muus P, Cacace F, Frieri C, van Lint MT, Passweg JR, Marsh JCW, Socié G, Mufti GJ, Dufour C, Risitano AM; Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation
N Engl J Med 2022 Jan 6;386(1):11-23. doi: 10.1056/NEJMoa2109965. PMID: 34986284
Babushok DV
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):143-152. doi: 10.1182/hematology.2021000245. PMID: 34889408Free PMC Article
Lee P, Yim R, Yung Y, Chu HT, Yip PK, Gill H
Int J Mol Sci 2021 Sep 23;22(19) doi: 10.3390/ijms221910232. PMID: 34638574Free PMC Article
Hill A, DeZern AE, Kinoshita T, Brodsky RA
Nat Rev Dis Primers 2017 May 18;3:17028. doi: 10.1038/nrdp.2017.28. PMID: 28516949Free PMC Article

Prognosis

Al-Hakim A, Savic S
Expert Rev Clin Immunol 2023 Feb;19(2):203-215. Epub 2022 Dec 26 doi: 10.1080/1744666X.2023.2157262. PMID: 36537591
Makishima H, Saiki R, Nannya Y, Korotev S, Gurnari C, Takeda J, Momozawa Y, Best S, Krishnamurthy P, Yoshizato T, Atsuta Y, Shiozawa Y, Iijima-Yamashita Y, Yoshida K, Shiraishi Y, Nagata Y, Kakiuchi N, Onizuka M, Chiba K, Tanaka H, Kon A, Ochi Y, Nakagawa MM, Okuda R, Mori T, Yoda A, Itonaga H, Miyazaki Y, Sanada M, Ishikawa T, Chiba S, Tsurumi H, Kasahara S, Müller-Tidow C, Takaori-Kondo A, Ohyashiki K, Kiguchi T, Matsuda F, Jansen JH, Polprasert C, Blombery P, Kamatani Y, Miyano S, Malcovati L, Haferlach T, Kubo M, Cazzola M, Kulasekararaj AG, Godley LA, Maciejewski JP, Ogawa S
Blood 2023 Feb 2;141(5):534-549. doi: 10.1182/blood.2022018221. PMID: 36322930Free PMC Article
Koster MJ, Samec MJ, Warrington KJ
J Clin Rheumatol 2023 Sep 1;29(6):298-306. Epub 2022 Oct 17 doi: 10.1097/RHU.0000000000001905. PMID: 36251488
Li H, Hu F, Gale RP, Sekeres MA, Liang Y
Nat Rev Dis Primers 2022 Nov 17;8(1):74. doi: 10.1038/s41572-022-00402-5. PMID: 36396662
Patnaik MM, Tefferi A
Am J Hematol 2022 Mar 1;97(3):352-372. Epub 2022 Jan 27 doi: 10.1002/ajh.26455. PMID: 34985762

Clinical prediction guides

Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
Makishima H, Saiki R, Nannya Y, Korotev S, Gurnari C, Takeda J, Momozawa Y, Best S, Krishnamurthy P, Yoshizato T, Atsuta Y, Shiozawa Y, Iijima-Yamashita Y, Yoshida K, Shiraishi Y, Nagata Y, Kakiuchi N, Onizuka M, Chiba K, Tanaka H, Kon A, Ochi Y, Nakagawa MM, Okuda R, Mori T, Yoda A, Itonaga H, Miyazaki Y, Sanada M, Ishikawa T, Chiba S, Tsurumi H, Kasahara S, Müller-Tidow C, Takaori-Kondo A, Ohyashiki K, Kiguchi T, Matsuda F, Jansen JH, Polprasert C, Blombery P, Kamatani Y, Miyano S, Malcovati L, Haferlach T, Kubo M, Cazzola M, Kulasekararaj AG, Godley LA, Maciejewski JP, Ogawa S
Blood 2023 Feb 2;141(5):534-549. doi: 10.1182/blood.2022018221. PMID: 36322930Free PMC Article
Li H, Hu F, Gale RP, Sekeres MA, Liang Y
Nat Rev Dis Primers 2022 Nov 17;8(1):74. doi: 10.1038/s41572-022-00402-5. PMID: 36396662
Garcia-Manero G, Chien KS, Montalban-Bravo G
Am J Hematol 2020 Nov;95(11):1399-1420. doi: 10.1002/ajh.25950. PMID: 32744763
Sood R, Kamikubo Y, Liu P
Blood 2017 Apr 13;129(15):2070-2082. Epub 2017 Feb 8 doi: 10.1182/blood-2016-10-687830. PMID: 28179279Free PMC Article

Recent systematic reviews

Boyadzhieva Z, Ruffer N, Kötter I, Krusche M
Rheumatology (Oxford) 2023 Nov 2;62(11):3518-3525. doi: 10.1093/rheumatology/kead240. PMID: 37233149
Sutandyo N, Mulyasari R, Kosasih A, Rinaldi I, Louisa M, Kevinsyah AP, Winston K
Asian Pac J Cancer Prev 2022 Apr 1;23(4):1107-1116. doi: 10.31557/APJCP.2022.23.4.1107. PMID: 35485665Free PMC Article
Snast I, Kaftory R, Sherman S, Edel Y, Hodak E, Levi A, Lapidoth M
Photodermatol Photoimmunol Photomed 2020 Jan;36(1):29-33. Epub 2019 Aug 21 doi: 10.1111/phpp.12501. PMID: 31374130
Duarte BKL, Yamaguti-Hayakawa GG, Medina SS, Siqueira LH, Snetsinger B, Costa FF, Rauh MJ, Ozelo MC
Br J Haematol 2019 Sep;186(5):724-734. Epub 2019 May 24 doi: 10.1111/bjh.15990. PMID: 31124578

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