TY - JOUR
T1 - Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults
T2 - Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
AU - Baliakas, Panagiotis
AU - Tesi, Bianca
AU - Wartiovaara-Kautto, Ulla
AU - Stray-Pedersen, Asbj Rg
AU - Friis, Lone Smidstrup
AU - Dybedal, Ingunn
AU - Hovland, Randi
AU - Jahnukainen, Kirsi
AU - Raaschou-Jensen, Klas
AU - Ljungman, Per
AU - Rustad, Cecilie F
AU - Lautrup, Charlotte K
AU - Kilpivaara, Outi
AU - Kittang, Astrid Olsnes
AU - Gr Nbæk, Kirsten
AU - Cammenga, Jörg
AU - Hellström-Lindberg, Eva
AU - Andersen, Mette K
N1 - Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association.
PY - 2019/12
Y1 - 2019/12
N2 - 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.
AB - 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.
U2 - 10.1097/HS9.0000000000000321
DO - 10.1097/HS9.0000000000000321
M3 - Review article
C2 - 31976490
SN - 2572-9241
VL - 3
JO - HemaSphere
JF - HemaSphere
IS - 6
M1 - e321
ER -