Hémopathies malignes héréditaires : une perspective canadienne
Résumé
Lorsqu’un patient vient de recevoir le diagnostic d’une tumeur maligne, il se pose souvent deux questions : 1) pourquoi ai-je ce cancer? et 2) mes enfants ou d’autres membres de ma famille sont-ils à risque? Dans le cas des hémopathies malignes, la réponse habituelle est que la cause est inconnue et que les membres de la famille ne sont pas exposés à un risque accru. La prédisposition héréditaire aux hémopathies malignes, en particulier aux hémopathies malignes myéloïdes, est cependant de plus en plus reconnue. Il est donc nécessaire d’apporter un changement à ce dogme. Les hémopathies malignes héréditaires ne sont pas aussi rares qu’on le croyait et on découvre un nombre toujours croissant de gènes et d’allèles de prédisposition. Depuis la découverte initiale du syndrome d’anomalies plaquettaires familiales (APF) avec prédisposition aux tumeurs malignes myéloïdes associées, dû à la mutation germinale délétère de RUNX1 en 1999, la liste des gènes de prédisposition, tels que CEBPA, DDX41, ETV6, GATA2 et d’autres, ne cesse de s’allonger.
Références
Trottier AM, Godley LA. Inherited predisposition to haematopoietic malignancies: overcoming barriers and exploring opportunities. Br J Haematol. 2021;194(4):663-676.
Song W-J, Sullivan MG, Legare RD, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23:166-175. Accessed November 12, 2017. http://www.nature.com.ezproxy.lib.ucalgary.ca/articles/ng1099_166.pdf
Tawana K, Wang J, Renneville A, et al. Disease evolution and outcomes in familial AML with germline CEBPA mutations. Blood. 2015;126(10):1214-1223.
Polprasert C, Schulze I, Sekeres MA, et al. Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms. Cancer Cell. 2015;27(5):658-670.
Zhang MY, Churpek JE, Keel SB, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47(2):180-185.
Wlodarski MW, Collin M, Horwitz MS. GATA2 deficiency and related myeloid neoplasms. Semin Hematol. 2017;54(2):81-86.
Döhner H, Wei AH, Appelbaum FR, et al. Diagnosis and Management of AML in Adults: 2022 ELN Recommendations from an International Expert Panel. Blood. Published online July 7, 2022.
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.
Trottier AM, Bannon S, Bashir Q, Carraway HE, Hofmann I, Godley LA. When should transplant physicians think about familial blood cancers? Adv Cell Gene Ther. 2019;2(4).
Rojek K, Nickels E, Neistadt B, et al. Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy. Biol Blood Marrow Transplant. 2016;22(11):2100-2103.
Buijs A, Poddighe P, Wijk R van, et al. A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood. 2001;98(9):2856-2858.
Hertenstein B, Hambach L, Bacigalupo A, et al. Development of leukemia in donor cells after allogeneic stem cell transplantation–a survey of the European Group for Blood and Marrow Transplantation (EBMT). Haematologica. 2005;90(7):969-975.
University of Chicago Hematopoietic Malignancies Cancer Risk Team TU of CHMCR. How I diagnose and manage individuals at risk for inherited myeloid malignancies. Blood. 2016;128(14):1800-1813.
Spinner MA, Sanchez LA, Hsu AP, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809-821.
Agarwal S. Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita. Hematol Oncol Clin North Am. 2018;32(4):669-685.
Savage SA, Niewisch MR. Dyskeratosis Congenita and Related Telomere Biology Disorders. Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Published online March 31, 2022. Accessed August 16, 2022. https://www.ncbi.nlm.nih.gov/books/NBK22301/
Deuitch N, Broadbridge E, Cunningham L, Liu P. RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Published online May 6, 2021. Accessed August 16, 2022. https://www.ncbi.nlm.nih.gov/books/NBK568319/
Churpek JE, Smith-Simmer K. DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia. GeneReviews® [Internet]. Published online October 28, 2021. Accessed August 16, 2022. https://www.ncbi.nlm.nih.gov/books/NBK574843/
Godley LA, Shimamura A. Genetic predisposition to hematologic malignancies: management and surveillance. Blood. 2017;130(4):424-432.
Feurstein S, Churpek JE, Walsh T, et al. Germline variants drive myelodysplastic syndrome in young adults. Leukemia. 2021;35(8):2439.
Sébert M, Passet M, Raimbault A, et al. Germline DDX41 mutations define a significant entity within adult MDS/AML patients. Blood. 2019;134(17):1441-1444.
Wan Z, Han B. Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data. Ther Adv Hematol. 2021;12.
Feurstein SK, Trottier AM, Estrada-Merly N, et al. Germline predisposition variants occur in myelodysplastic syndrome patients of all ages. Blood. 2022 Aug 18;140(24):2533-2548.
Srivastava A, Giangiobbe S, Kumar A, et al. Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing. Front Bioeng Biotechnol. 2020;8:179.
Pertesi M, Went M, Hansson M, Hemminki K, Houlston R, Nilsson B. Genetic predisposition for multiple myeloma. Leukemia. 2020;34(3):697-708.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424.
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© Actualité hématologique au Canada 2022
Cette œuvre est sous licence Creative Commons Attribution - Pas d'Utilisation Commerciale - Pas de Modification 4.0 International.
