TNFRSF13B gene mutation in familial acute myeloid leukemia: A new piece in the complex scenario of hereditary predisposition?
TNFRSF13B
familial AML
hereditary predisposition
Journal
Hematological oncology
ISSN: 1099-1069
Titre abrégé: Hematol Oncol
Pays: England
ID NLM: 8307268
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
revised:
14
06
2023
received:
21
04
2023
accepted:
19
07
2023
pubmed:
3
8
2023
medline:
3
8
2023
entrez:
3
8
2023
Statut:
ppublish
Résumé
TNFRSF13B mutations are widely associated with common variable immunodeficiency. TNFRSF13B was recently counted among relevant genes associated with childhood-onset of hematological malignancies; nonetheless, its role in acute myeloid leukemia (AML) remains unexplored. We report the study of a family with two cases of AML, sharing a germline TNFRSF13B mutation favoring the formation of a more stable complex with its ligand TNFSF13: a positive regulator of AML-initiating cells. Our data turn the spotlight onto the TNFRSF13B role in AML onset, inserting a new fragment into the complex scenario of a hereditary predisposition to myeloid neoplasms.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
942-946Informations de copyright
© 2023 The Authors. Hematological Oncology published by John Wiley & Sons Ltd.
Références
Salzer U, Grimbacher B. TACI deficiency - a complex system out of balance. Curr Opin Immunol. 2021;71:81-88. https://doi.org/10.1016/j.coi.2021.06.004
Verhoeven D, Stoppelenburg AJ, Meyer-Wentrup F, Boes M. Increased risk of hematologic malignancies in primary immunodeficiency disorders: opportunities for immunotherapy. Clin Immunol. 2018;190:22-31. https://doi.org/10.1016/j.clim.2018.02.007
Byrjalsen A, Hansen TVO, Stoltze UK, et al. Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes. PLoS Genet. 2020;16(12):1-24. https://doi.org/10.1371/JOURNAL.PGEN.1009231
Jasek M, Bojarska-Junak A, Sobczyński M, et al. Association of common variants of TNFSF13 and TNFRSF13B genes with CLL risk and clinical picture, as well as expression of their products-APRIL and TACI molecules. Cancers. 2020;12(10):1-15. https://doi.org/10.3390/CANCERS12102873
Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the world health organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-2405. https://doi.org/10.1182/blood-2016-03-643544
Cumbo C, Tota G, De Grassi A, et al. RUNX1 gene alterations characterized by allelic preference in adult acute myeloid leukemia. Leuk Lymphoma. 2021;0(0):1-9. https://doi.org/10.1080/10428194.2021.1929960
Rio-Machin A, Vulliamy T, Hug N, et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun. 2020;11(1):1-12. https://doi.org/10.1038/s41467-020-14829-5
Fried AJ, Rauter I, Dillon SR, Jabara HH, Geha RS. Functional analysis of TACI mutations associated with CVID. J Allergy Clin Immunol. 2011;128(1):226-228.e1. https://doi.org/10.1016/j.jaci.2011.01.048.Functional
Vanamee ÉS, Faustman DL. Structural principles of tumor necrosis factor superfamily signaling. Sci Signal. 2018;11(511):eaao4910. https://doi.org/10.1126/SCISIGNAL.AAO4910
Khoury JD, Solary E, Abla O, et al. The 5th edition of the world health organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. https://doi.org/10.1038/s41375-022-01613-1
Chapellier M, Peña-Martínez P, Ramakrishnan R, et al. Arrayed molecular barcoding identifies TNFSF13 as a positive regulator of acute myeloid leukemia-initiating cells. Haematologica. 2019;104(10):2006-2016. https://doi.org/10.3324/haematol.2018.192062
Chen KZ, Kazi R, Porter CC, Qu CK. Germline mutations: many roles in leukemogenesis. Curr Opin Hematol. 2020;27(4):288-293. https://doi.org/10.1097/MOH.0000000000000596
Döhner H, Wei AH, Appelbaum FR, et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood. 2022;140(12):1345-1377. https://doi.org/10.1182/blood.2022016867