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Myeloid Neoplasms with Germline GATA2 Mutation

MedGen UID:
1652884
•Concept ID:
C4726553
•
Neoplastic Process

Definition

Myelodysplastic syndromes/acute myeloid leukemias associated with germline GATA2 mutation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloid Neoplasms with Germline GATA2 Mutation

Professional guidelines

PubMed

Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.
Trottier AM, Feurstein S, Godley LA
Best Pract Res Clin Haematol 2024 Mar;37(1):101537. Epub 2024 Feb 1 doi: 10.1016/j.beha.2024.101537. PMID: 38490765
Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?
Tawana K, Drazer MW, Churpek JE
Leukemia 2018 Jul;32(7):1482-1492. Epub 2018 Feb 27 doi: 10.1038/s41375-018-0051-y. PMID: 29483711

Recent clinical studies

Etiology

The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.
Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Pediatric Germline Predisposition to Myeloid Neoplasms.
Thompson C, Ariagno S, Kohorst MA
Curr Hematol Malig Rep 2022 Dec;17(6):266-274. Epub 2022 Sep 19 doi: 10.1007/s11899-022-00681-5. PMID: 36117229
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Hereditary myeloid malignancies.
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
GATA2 deficiency.
Hsu AP, McReynolds LJ, Holland SM
Curr Opin Allergy Clin Immunol 2015 Feb;15(1):104-9. doi: 10.1097/ACI.0000000000000126. PMID: 25397911Free PMC Article

Diagnosis

Germline Predisposition to Myeloid Neoplasms: Diagnostic Concepts and Classifications.
Obiorah IE, Upadhyaya KD, Calvo KR
Clin Lab Med 2023 Dec;43(4):615-638. Epub 2023 Aug 8 doi: 10.1016/j.cll.2023.06.004. PMID: 37865507
The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.
Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Pediatric Germline Predisposition to Myeloid Neoplasms.
Thompson C, Ariagno S, Kohorst MA
Curr Hematol Malig Rep 2022 Dec;17(6):266-274. Epub 2022 Sep 19 doi: 10.1007/s11899-022-00681-5. PMID: 36117229
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Hereditary myeloid malignancies.
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article

Therapy

Somatic GATA2 mutations define a subgroup of myeloid malignancy patients at high risk for invasive fungal disease.
Vedula RS, Cheng MP, Ronayne CE, Farmakiotis D, Ho VT, Koo S, Marty FM, Lindsley RC, Bold TD
Blood Adv 2021 Jan 12;5(1):54-60. doi: 10.1182/bloodadvances.2020002854. PMID: 33570623Free PMC Article
Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.
Yoshida M, Tanase-Nakao K, Shima H, Shirai R, Yoshida K, Osumi T, Deguchi T, Mori M, Arakawa Y, Takagi M, Miyamura T, Sakaguchi K, Toyoda H, Ishida H, Sakata N, Imamura T, Kawahara Y, Morimoto A, Koike T, Yagasaki H, Ito S, Tomizawa D, Kiyokawa N, Narumi S, Kato M
Br J Haematol 2020 Dec;191(5):835-843. Epub 2020 Aug 7 doi: 10.1111/bjh.17006. PMID: 32770553
Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.
Wu Z, Gao S, Diamond C, Kajigaya S, Chen J, Shi R, Palmer C, Hsu AP, Calvo KR, Hickstein DD, Holland SM, Young NS
Blood Adv 2020 Jun 23;4(12):2656-2670. doi: 10.1182/bloodadvances.2019001352. PMID: 32556286Free PMC Article
Comparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations.
Hofmann I, Avagyan S, Stetson A, Guo D, Al-Sayegh H, London WB, Lehmann L
Biol Blood Marrow Transplant 2020 Jun;26(6):1124-1130. Epub 2020 Feb 20 doi: 10.1016/j.bbmt.2020.02.015. PMID: 32088370Free PMC Article
Preleukemia: one name, many meanings.
Koeffler HP, Leong G
Leukemia 2017 Mar;31(3):534-542. Epub 2016 Nov 30 doi: 10.1038/leu.2016.364. PMID: 27899806Free PMC Article

Prognosis

Pediatric Germline Predisposition to Myeloid Neoplasms.
Thompson C, Ariagno S, Kohorst MA
Curr Hematol Malig Rep 2022 Dec;17(6):266-274. Epub 2022 Sep 19 doi: 10.1007/s11899-022-00681-5. PMID: 36117229
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A
Br J Haematol 2022 Nov;199(4):482-495. Epub 2022 Jun 26 doi: 10.1111/bjh.18330. PMID: 35753998Free PMC Article
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).
Brown AL, Hahn CN, Scott HS
Blood 2020 Jul 2;136(1):24-35. doi: 10.1182/blood.2019000937. PMID: 32430494Free PMC Article
Quantitative and qualitative impairments in GATA2 and myeloid neoplasms.
Shimizu R, Yamamoto M
IUBMB Life 2020 Jan;72(1):142-150. Epub 2019 Nov 1 doi: 10.1002/iub.2188. PMID: 31675473

Clinical prediction guides

Cellular and metabolic characteristics of pre-leukemic hematopoietic progenitors with GATA2 haploinsufficiency.
Rein A, Geron I, Kugler E, Fishman H, Gottlieb E, Abramovich I, Giladi A, Amit I, Mulet-Lazaro R, Delwel R, Gröschel S, Levin-Zaidman S, Dezorella N, Holdengreber V, Rao TN, Yacobovich J, Steinberg-Shemer O, Huang QH, Tan Y, Chen SJ, Izraeli S, Birger Y
Haematologica 2023 Sep 1;108(9):2316-2330. doi: 10.3324/haematol.2022.279437. PMID: 36475518Free PMC Article
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A
Br J Haematol 2022 Nov;199(4):482-495. Epub 2022 Jun 26 doi: 10.1111/bjh.18330. PMID: 35753998Free PMC Article
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).
Brown AL, Hahn CN, Scott HS
Blood 2020 Jul 2;136(1):24-35. doi: 10.1182/blood.2019000937. PMID: 32430494Free PMC Article
Quantitative and qualitative impairments in GATA2 and myeloid neoplasms.
Shimizu R, Yamamoto M
IUBMB Life 2020 Jan;72(1):142-150. Epub 2019 Nov 1 doi: 10.1002/iub.2188. PMID: 31675473

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