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SRSF2 Gene Deletion

MedGen UID:
1613034
•Concept ID:
C4524831
•
Cell or Molecular Dysfunction
Synonyms: SC35 Gene Deletion; Serine and Arginine Rich Splicing Factor 2 Gene Deletion; Serine/Arginine-Rich Splicing Factor 2 Gene Deletion; SFRS2 Gene Deletion; Splicing Factor, Arginine/Serine-Rich 2 Gene Deletion

Definition

A molecular abnormality referring to the loss of at least one copy of the SRSF2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSRSF2 Gene Deletion

Recent clinical studies

Etiology

Allogeneic Hematopoietic Cell Transplantation Improves Outcome in Myelodysplastic Syndrome Across High-Risk Genetic Subgroups: Genetic Analysis of the Blood and Marrow Transplant Clinical Trials Network 1102 Study.
Versluis J, Saber W, Tsai HK, Gibson CJ, Dillon LW, Mishra A, McGuirk J, Maziarz RT, Westervelt P, Hegde P, Mukherjee D, Martens MJ, Logan B, Horowitz M, Hourigan CS, Nakamura R, Cutler C, Lindsley RC; Blood and Marrow Transplant Clinical Trials Network
J Clin Oncol 2023 Oct 1;41(28):4497-4510. Epub 2023 Aug 22 doi: 10.1200/JCO.23.00866. PMID: 37607457Free PMC Article
Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations.
Martín I, Villamón E, Abellán R, Calasanz MJ, Irigoyen A, Sanz G, Such E, Mora E, Gutiérrez M, Collado R, García-Serra R, Vara M, Blanco ML, Oiartzabal I, Álvarez S, Bernal T, Granada I, Xicoy B, Jerez A, Calabuig M, Diez R, Gil Á, Díez-Campelo M, Solano C, Tormo M; Spanish Group of Myelodysplastic Syndromes (GESMD)
Br J Haematol 2021 Aug;194(4):708-717. Epub 2021 Jul 22 doi: 10.1111/bjh.17675. PMID: 34296432
Classification and Personalized Prognostic Assessment on the Basis of Clinical and Genomic Features in Myelodysplastic Syndromes.
Bersanelli M, Travaglino E, Meggendorfer M, Matteuzzi T, Sala C, Mosca E, Chiereghin C, Di Nanni N, Gnocchi M, Zampini M, Rossi M, Maggioni G, Termanini A, Angelucci E, Bernardi M, Borin L, Bruno B, Bonifazi F, Santini V, Bacigalupo A, Voso MT, Oliva E, Riva M, Ubezio M, Morabito L, Campagna A, Saitta C, Savevski V, Giampieri E, Remondini D, Passamonti F, Ciceri F, Bolli N, Rambaldi A, Kern W, Kordasti S, Sole F, Palomo L, Sanz G, Santoro A, Platzbecker U, Fenaux P, Milanesi L, Haferlach T, Castellani G, Della Porta MG
J Clin Oncol 2021 Apr 10;39(11):1223-1233. Epub 2021 Feb 4 doi: 10.1200/JCO.20.01659. PMID: 33539200Free PMC Article
Genetic abnormalities and pathophysiology of MDS.
Hosono N
Int J Clin Oncol 2019 Aug;24(8):885-892. Epub 2019 May 15 doi: 10.1007/s10147-019-01462-6. PMID: 31093808
Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML.
Hirabayashi S, Flotho C, Moetter J, Heuser M, Hasle H, Gruhn B, Klingebiel T, Thol F, Schlegelberger B, Baumann I, Strahm B, Stary J, Locatelli F, Zecca M, Bergstraesser E, Dworzak M, van den Heuvel-Eibrink MM, De Moerloose B, Ogawa S, Niemeyer CM, Wlodarski MW; European Working Group of MDS in Childhood
Blood 2012 Mar 15;119(11):e96-9. Epub 2012 Jan 11 doi: 10.1182/blood-2011-12-395087. PMID: 22238327

Diagnosis

Clinically Significant CUX1 Mutations Are Frequently Subclonal and Common in Myeloid Disorders With a High Number of Co-mutated Genes and Dysplastic Features.
Dermawan JK, Wensel C, Visconte V, Maciejewski JP, Cook JR, Bosler DS
Am J Clin Pathol 2022 Apr 1;157(4):586-594. doi: 10.1093/ajcp/aqab157. PMID: 34661647
Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations.
Martín I, Villamón E, Abellán R, Calasanz MJ, Irigoyen A, Sanz G, Such E, Mora E, Gutiérrez M, Collado R, García-Serra R, Vara M, Blanco ML, Oiartzabal I, Álvarez S, Bernal T, Granada I, Xicoy B, Jerez A, Calabuig M, Diez R, Gil Á, Díez-Campelo M, Solano C, Tormo M; Spanish Group of Myelodysplastic Syndromes (GESMD)
Br J Haematol 2021 Aug;194(4):708-717. Epub 2021 Jul 22 doi: 10.1111/bjh.17675. PMID: 34296432
Complex landscape of alternative splicing in myeloid neoplasms.
Hershberger CE, Moyer DC, Adema V, Kerr CM, Walter W, Hutter S, Meggendorfer M, Baer C, Kern W, Nadarajah N, Twardziok S, Sekeres MA, Haferlach C, Haferlach T, Maciejewski JP, Padgett RA
Leukemia 2021 Apr;35(4):1108-1120. Epub 2020 Aug 4 doi: 10.1038/s41375-020-1002-y. PMID: 32753690Free PMC Article
Dissecting the Contributions of Cooperating Gene Mutations to Cancer Phenotypes and Drug Responses with Patient-Derived iPSCs.
Chang CJ, Kotini AG, Olszewska M, Georgomanoli M, Teruya-Feldstein J, Sperber H, Sanchez R, DeVita R, Martins TJ, Abdel-Wahab O, Bradley RK, Papapetrou EP
Stem Cell Reports 2018 May 8;10(5):1610-1624. Epub 2018 Apr 19 doi: 10.1016/j.stemcr.2018.03.020. PMID: 29681544Free PMC Article
The molecular pathogenesis of the myelodysplastic syndromes.
Pellagatti A, Boultwood J
Eur J Haematol 2015 Jul;95(1):3-15. Epub 2015 Feb 20 doi: 10.1111/ejh.12515. PMID: 25645650

Therapy

Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations.
Martín I, Villamón E, Abellán R, Calasanz MJ, Irigoyen A, Sanz G, Such E, Mora E, Gutiérrez M, Collado R, García-Serra R, Vara M, Blanco ML, Oiartzabal I, Álvarez S, Bernal T, Granada I, Xicoy B, Jerez A, Calabuig M, Diez R, Gil Á, Díez-Campelo M, Solano C, Tormo M; Spanish Group of Myelodysplastic Syndromes (GESMD)
Br J Haematol 2021 Aug;194(4):708-717. Epub 2021 Jul 22 doi: 10.1111/bjh.17675. PMID: 34296432
Classification and Personalized Prognostic Assessment on the Basis of Clinical and Genomic Features in Myelodysplastic Syndromes.
Bersanelli M, Travaglino E, Meggendorfer M, Matteuzzi T, Sala C, Mosca E, Chiereghin C, Di Nanni N, Gnocchi M, Zampini M, Rossi M, Maggioni G, Termanini A, Angelucci E, Bernardi M, Borin L, Bruno B, Bonifazi F, Santini V, Bacigalupo A, Voso MT, Oliva E, Riva M, Ubezio M, Morabito L, Campagna A, Saitta C, Savevski V, Giampieri E, Remondini D, Passamonti F, Ciceri F, Bolli N, Rambaldi A, Kern W, Kordasti S, Sole F, Palomo L, Sanz G, Santoro A, Platzbecker U, Fenaux P, Milanesi L, Haferlach T, Castellani G, Della Porta MG
J Clin Oncol 2021 Apr 10;39(11):1223-1233. Epub 2021 Feb 4 doi: 10.1200/JCO.20.01659. PMID: 33539200Free PMC Article
Dissecting the Contributions of Cooperating Gene Mutations to Cancer Phenotypes and Drug Responses with Patient-Derived iPSCs.
Chang CJ, Kotini AG, Olszewska M, Georgomanoli M, Teruya-Feldstein J, Sperber H, Sanchez R, DeVita R, Martins TJ, Abdel-Wahab O, Bradley RK, Papapetrou EP
Stem Cell Reports 2018 May 8;10(5):1610-1624. Epub 2018 Apr 19 doi: 10.1016/j.stemcr.2018.03.020. PMID: 29681544Free PMC Article

Prognosis

Allogeneic Hematopoietic Cell Transplantation Improves Outcome in Myelodysplastic Syndrome Across High-Risk Genetic Subgroups: Genetic Analysis of the Blood and Marrow Transplant Clinical Trials Network 1102 Study.
Versluis J, Saber W, Tsai HK, Gibson CJ, Dillon LW, Mishra A, McGuirk J, Maziarz RT, Westervelt P, Hegde P, Mukherjee D, Martens MJ, Logan B, Horowitz M, Hourigan CS, Nakamura R, Cutler C, Lindsley RC; Blood and Marrow Transplant Clinical Trials Network
J Clin Oncol 2023 Oct 1;41(28):4497-4510. Epub 2023 Aug 22 doi: 10.1200/JCO.23.00866. PMID: 37607457Free PMC Article
Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations.
Martín I, Villamón E, Abellán R, Calasanz MJ, Irigoyen A, Sanz G, Such E, Mora E, Gutiérrez M, Collado R, García-Serra R, Vara M, Blanco ML, Oiartzabal I, Álvarez S, Bernal T, Granada I, Xicoy B, Jerez A, Calabuig M, Diez R, Gil Á, Díez-Campelo M, Solano C, Tormo M; Spanish Group of Myelodysplastic Syndromes (GESMD)
Br J Haematol 2021 Aug;194(4):708-717. Epub 2021 Jul 22 doi: 10.1111/bjh.17675. PMID: 34296432
Classification and Personalized Prognostic Assessment on the Basis of Clinical and Genomic Features in Myelodysplastic Syndromes.
Bersanelli M, Travaglino E, Meggendorfer M, Matteuzzi T, Sala C, Mosca E, Chiereghin C, Di Nanni N, Gnocchi M, Zampini M, Rossi M, Maggioni G, Termanini A, Angelucci E, Bernardi M, Borin L, Bruno B, Bonifazi F, Santini V, Bacigalupo A, Voso MT, Oliva E, Riva M, Ubezio M, Morabito L, Campagna A, Saitta C, Savevski V, Giampieri E, Remondini D, Passamonti F, Ciceri F, Bolli N, Rambaldi A, Kern W, Kordasti S, Sole F, Palomo L, Sanz G, Santoro A, Platzbecker U, Fenaux P, Milanesi L, Haferlach T, Castellani G, Della Porta MG
J Clin Oncol 2021 Apr 10;39(11):1223-1233. Epub 2021 Feb 4 doi: 10.1200/JCO.20.01659. PMID: 33539200Free PMC Article
Complex landscape of alternative splicing in myeloid neoplasms.
Hershberger CE, Moyer DC, Adema V, Kerr CM, Walter W, Hutter S, Meggendorfer M, Baer C, Kern W, Nadarajah N, Twardziok S, Sekeres MA, Haferlach C, Haferlach T, Maciejewski JP, Padgett RA
Leukemia 2021 Apr;35(4):1108-1120. Epub 2020 Aug 4 doi: 10.1038/s41375-020-1002-y. PMID: 32753690Free PMC Article
The molecular pathogenesis of the myelodysplastic syndromes.
Pellagatti A, Boultwood J
Eur J Haematol 2015 Jul;95(1):3-15. Epub 2015 Feb 20 doi: 10.1111/ejh.12515. PMID: 25645650

Clinical prediction guides

Allogeneic Hematopoietic Cell Transplantation Improves Outcome in Myelodysplastic Syndrome Across High-Risk Genetic Subgroups: Genetic Analysis of the Blood and Marrow Transplant Clinical Trials Network 1102 Study.
Versluis J, Saber W, Tsai HK, Gibson CJ, Dillon LW, Mishra A, McGuirk J, Maziarz RT, Westervelt P, Hegde P, Mukherjee D, Martens MJ, Logan B, Horowitz M, Hourigan CS, Nakamura R, Cutler C, Lindsley RC; Blood and Marrow Transplant Clinical Trials Network
J Clin Oncol 2023 Oct 1;41(28):4497-4510. Epub 2023 Aug 22 doi: 10.1200/JCO.23.00866. PMID: 37607457Free PMC Article
Classification and Personalized Prognostic Assessment on the Basis of Clinical and Genomic Features in Myelodysplastic Syndromes.
Bersanelli M, Travaglino E, Meggendorfer M, Matteuzzi T, Sala C, Mosca E, Chiereghin C, Di Nanni N, Gnocchi M, Zampini M, Rossi M, Maggioni G, Termanini A, Angelucci E, Bernardi M, Borin L, Bruno B, Bonifazi F, Santini V, Bacigalupo A, Voso MT, Oliva E, Riva M, Ubezio M, Morabito L, Campagna A, Saitta C, Savevski V, Giampieri E, Remondini D, Passamonti F, Ciceri F, Bolli N, Rambaldi A, Kern W, Kordasti S, Sole F, Palomo L, Sanz G, Santoro A, Platzbecker U, Fenaux P, Milanesi L, Haferlach T, Castellani G, Della Porta MG
J Clin Oncol 2021 Apr 10;39(11):1223-1233. Epub 2021 Feb 4 doi: 10.1200/JCO.20.01659. PMID: 33539200Free PMC Article
Complex landscape of alternative splicing in myeloid neoplasms.
Hershberger CE, Moyer DC, Adema V, Kerr CM, Walter W, Hutter S, Meggendorfer M, Baer C, Kern W, Nadarajah N, Twardziok S, Sekeres MA, Haferlach C, Haferlach T, Maciejewski JP, Padgett RA
Leukemia 2021 Apr;35(4):1108-1120. Epub 2020 Aug 4 doi: 10.1038/s41375-020-1002-y. PMID: 32753690Free PMC Article
Truncation mutants of ASXL1 observed in myeloid malignancies are expressed at detectable protein levels.
Inoue D, Matsumoto M, Nagase R, Saika M, Fujino T, Nakayama KI, Kitamura T
Exp Hematol 2016 Mar;44(3):172-6.e1. Epub 2015 Dec 15 doi: 10.1016/j.exphem.2015.11.011. PMID: 26700326
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
Eidinger O, Leibu R, Newman H, Rizel L, Perlman I, Ben-Yosef T
Mol Vis 2015;21:1295-306. Epub 2015 Dec 8 PMID: 26702251Free PMC Article

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