Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary

Attila Péter Király, Krisztián Kállay, Ambrus Gángó, Ádám Kellner, Miklós Egyed, Anita Szőke, Richárd Kiss, István Vályi-Nagy, Judit Csomor, A. Matolcsy, Csaba Bödör

Research output: Contribution to journalArticle

Abstract

Although genetic predisposition to haematological malignancies has long been known, genetic testing is not yet the part of the routine diagnostics. In the last ten years, next generation sequencing based studies identified novel germline mutations in the background of familial aggregation of certain haematologic disorders including myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). This is supported by the fact that the myeloid neoplasms with genetic predisposition represent a new category in the revised 2016 World Health Organization classification. According to the new classification, these disorders are subdivided based on the clinical and genetic features, including myeloid neoplasms with germline predisposition alone, or with pre-existing platelet disorder, cytopaenias or other organ failures. The predisposing genetic factors include mutations in the RUNX1, CEBPA, GATA2, ANKRD26, ETV6, DDX41, TERC or TERT and SRP72 genes. The genes affected in these syndromes are important regulators of haemopoiesis and are frequently implicated in leukaemogenesis, providing deeper insight into the understanding of normal and malignant haemopoiesis. Despite the growing knowledge of germline predisposing events in the background of familial myeloid malignancies, the germline genetic component is still unknown in a subset of these pedigrees. Here, we present the first study of inherited myeloid malignancies in Hungary. We identified three families with apparent clustering of myeloid malignancies with nine affected individuals across these pedigrees. All tested individuals were negative for CEBPA, GATA2, RUNX1, ANKRD26, ETV6, DDX41, TERC or TERT and SRP72 mutations, suggesting the presence of so far unidentified predisposing mutations.

Original languageEnglish
Pages (from-to)83-88
Number of pages6
JournalPathology and Oncology Research
Volume24
Issue number1
DOIs
Publication statusPublished - Jan 1 2018

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Hungary
Pedigree
Neoplasms
Genetic Predisposition to Disease
Mutation
Preexisting Condition Coverage
Germ-Line Mutation
Myelodysplastic Syndromes
Genetic Testing
Hematologic Neoplasms
Acute Myeloid Leukemia
Causality
Genes
Cluster Analysis
Blood Platelets
Familial Acute Myeloid Leukemia with Mutated Cebpa
telomerase RNA

Keywords

  • Familial MDS/AML
  • Genetic predisposition
  • Germline mutation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Oncology
  • Cancer Research

Cite this

Király, A. P., Kállay, K., Gángó, A., Kellner, Á., Egyed, M., Szőke, A., ... Bödör, C. (2018). Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary. Pathology and Oncology Research, 24(1), 83-88. https://doi.org/10.1007/s12253-017-0216-4

Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary. / Király, Attila Péter; Kállay, Krisztián; Gángó, Ambrus; Kellner, Ádám; Egyed, Miklós; Szőke, Anita; Kiss, Richárd; Vályi-Nagy, István; Csomor, Judit; Matolcsy, A.; Bödör, Csaba.

In: Pathology and Oncology Research, Vol. 24, No. 1, 01.01.2018, p. 83-88.

Research output: Contribution to journalArticle

Király, AP, Kállay, K, Gángó, A, Kellner, Á, Egyed, M, Szőke, A, Kiss, R, Vályi-Nagy, I, Csomor, J, Matolcsy, A & Bödör, C 2018, 'Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary', Pathology and Oncology Research, vol. 24, no. 1, pp. 83-88. https://doi.org/10.1007/s12253-017-0216-4
Király AP, Kállay K, Gángó A, Kellner Á, Egyed M, Szőke A et al. Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary. Pathology and Oncology Research. 2018 Jan 1;24(1):83-88. https://doi.org/10.1007/s12253-017-0216-4
Király, Attila Péter ; Kállay, Krisztián ; Gángó, Ambrus ; Kellner, Ádám ; Egyed, Miklós ; Szőke, Anita ; Kiss, Richárd ; Vályi-Nagy, István ; Csomor, Judit ; Matolcsy, A. ; Bödör, Csaba. / Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary. In: Pathology and Oncology Research. 2018 ; Vol. 24, No. 1. pp. 83-88.
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