Open AccessNordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow‐up
Author(s) -
Baliakas Panagiotis,
Tesi Bianca,
WartiovaaraKautto Ulla,
StrayPedersen Asbjørg,
Friis Lone Smidstrup,
Dybedal Ingunn,
Hovland Randi,
Jahnukainen Kirsi,
RaaschouJensen Klas,
Ljungman Per,
Rustad Cecilie F.,
Lautrup Charlotte K.,
Kilpivaara Outi,
Kittang Astrid Olsnes,
Grønbæk Kirsten,
Cammenga Jörg,
HellströmLindberg Eva,
Andersen Mette K.
Publication year - 2019
Publication title -
hemasphere
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 11
ISSN - 2572-9241
DOI - 10.1097/hs9.0000000000000321
Subject(s) - germline , medicine , genetic predisposition , genetic testing , germline mutation , hematopoietic stem cell transplantation , myeloid leukemia , myeloid , transplantation , bioinformatics , mutation , genetics , disease , biology , gene
Myeloid neoplasms (MNs) with germline predisposition have recently been recognized as novel entities in the latest World Health Organization (WHO) classification for MNs. Individuals with MNs due to germline predisposition exhibit increased risk for the development of MNs, mainly acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Setting the diagnosis of MN with germline predisposition is of crucial clinical significance since it may tailor therapy, dictate the selection of donor for allogeneic hematopoietic stem cell transplantation (allo‐HSCT), determine the conditioning regimen, enable relevant prophylactic measures and early intervention or contribute to avoid unnecessary or even harmful medication. Finally, it allows for genetic counseling and follow‐up of at‐risk family members. Identification of these patients in the clinical setting is challenging, as there is no consensus due to lack of evidence regarding the criteria defining the patients who should be tested for these conditions. In addition, even in cases with a strong suspicion of a MN with germline predisposition, no standard diagnostic algorithm is available. We present the first version of the Nordic recommendations for diagnostics, surveillance and management including considerations for allo‐HSCT for patients and carriers of a germline mutation predisposing to the development of MNs.