Familiáris myelodysplasiás szindrómában szenvedő család                     genomikus kópiaszám-változásainak vizsgálata multiplex ligatiofüggő                     szondaamplifikációval

Kotmayer, Lili; Kiss, Richárd; Király, Péter Attila; Csomor, Judit; Kállay, Krisztián; Alpár, Donát; Bödör, Csaba

doi:10.1556/2068.2018.51.4.6

Cited by 1 publication

(1 citation statement)

References 27 publications

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“…Identifying characteristics of such patients include physical abnormalities, endocrine abnormalities, short stature, stunted growth, and immunodeficiency in patients with hematologic abnormalities such as cytopenia, unexplained macro-erythroblastosis, or overt malignancy. A genetic MDS/AML predisposition may also be indicated by a family history of first-or second-degree relatives with malignancy, cytopenia, congenital abnormalities, or excessive toxicity from chemotherapy or radiation therapy [9]. However, the absence of characteristic clinical features or a negative family history does not exclude the presence of a germline MDS/AML syndrome.…”

Section: Introductionmentioning

confidence: 99%

Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome

Arai,

Matsui,

Chi

et al. 2023

Preprint

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Due to the proliferation of genetic testing, pathogenic germline variants predisposing to hereditary hematological malignancy syndrome (HHMS) have been identified in an increasing number of genes. Consequently, the field of HHMS is gaining recognition among clinicians and scientists worldwide. Patients with germline genetic abnormalities often have poor outcomes and are candidates for allogeneic hematopoietic stem cell transplantation (HSCT). However, HSCT using blood from a related donor should be carefully considered because of the risk that the patient may inherit a pathogenic variant. At present, we now face the challenge of incorporating these advances into clinical practice for patients with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) and optimizing the management and surveillance of patients and asymptomatic carriers, with the limitation that evidence-based guidelines are often inadequate. The 2016 revision of the WHO classification added a new section on myeloid malignant neoplasms, including MDS and AML with germline predisposition. The main syndromes can be classified into three groups. Those without pre-existing disease or organ dysfunction; DDX41, TP53, CEBPA, those with pre-existing platelet disorders; ANKRD26, ETV6, RUNX1, and those with other organ dysfunctions; SAMD9/SAMD9L, GATA2, and inherited bone marrow failure syndromes. In this review, we will outline the role of the genes involved in HHMS in order to clarify our understanding of HHMS.

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Section: Introductionmentioning

confidence: 99%