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Myeloid Neoplasms with Germline Predisposition

MedGen UID:
1372291
•Concept ID:
C4330727
•
Neoplastic Process

Definition

A term that refers to myelodysplastic syndromes, myelodysplastic/myeloproliferative neoplasms, and acute myeloid leukemias that are associated with germline mutations and are familial. [from NCI]

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
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies.
Schlegelberger B, Mecucci C, Wlodarski M
Fam Cancer 2021 Oct;20(4):295-303. Epub 2021 May 31 doi: 10.1007/s10689-021-00263-z. PMID: 34057692Free PMC Article
The Emerging Role of Hematopathologists and Molecular Pathologists in Detection, Monitoring, and Management of Myeloid Neoplasms with Germline Predisposition.
Kanagal-Shamanna R
Curr Hematol Malig Rep 2021 Aug;16(4):336-344. Epub 2021 May 24 doi: 10.1007/s11899-021-00636-2. PMID: 34028637

Recent clinical studies

Etiology

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
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
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies.
Schlegelberger B, Mecucci C, Wlodarski M
Fam Cancer 2021 Oct;20(4):295-303. Epub 2021 May 31 doi: 10.1007/s10689-021-00263-z. PMID: 34057692Free 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

Diagnosis

How I diagnose myeloid neoplasms with germline predisposition.
Patel N, Calvo KR
Am J Clin Pathol 2023 Oct 3;160(4):352-364. doi: 10.1093/ajcp/aqad075. PMID: 37458302Free 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
Genetic predisposition in acute leukaemia.
Wiggins M, Stevenson W
Int J Lab Hematol 2020 Jun;42 Suppl 1:75-81. Epub 2020 Mar 2 doi: 10.1111/ijlh.13173. PMID: 32115888
Myeloid Neoplasms with Germline Predisposition.
Geyer JT
Pathobiology 2019;86(1):53-61. Epub 2018 Jul 26 doi: 10.1159/000490311. PMID: 30048985
Myeloid Neoplasms with Germline Predisposition: A New Provisional Entity Within the World Health Organization Classification.
Czuchlewski DR, Peterson LC
Surg Pathol Clin 2016 Mar;9(1):165-76. doi: 10.1016/j.path.2015.09.010. PMID: 26940275

Therapy

Frequency of hematologic and solid malignancies in the family history of 50 patients with acute myeloid leukemia - a single center analysis.
Sandner AS, Weggel R, Mehraein Y, Schneider S, Hiddemann W, Spiekermann K
PLoS One 2019;14(4):e0215453. Epub 2019 Apr 18 doi: 10.1371/journal.pone.0215453. PMID: 30998723Free PMC Article

Prognosis

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
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
Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary.
Király AP, Kállay K, Gángó A, Kellner Á, Egyed M, Szőke A, Kiss R, Vályi-Nagy I, Csomor J, Matolcsy A, Bödör C
Pathol Oncol Res 2018 Jan;24(1):83-88. Epub 2017 Mar 29 doi: 10.1007/s12253-017-0216-4. PMID: 28357685

Clinical prediction guides

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

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