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Inherited bone marrow failure syndrome

MedGen UID:
458917
•Concept ID:
C2986691
•
Disease or Syndrome
Synonyms: BMF Syndrome, Inherited; Bone Marrow Failure Syndromes, Congenital; Bone Marrow Failure Syndromes, Inherited; CBMFS; Congenital Bone Marrow Failure Syndrome; Congenital Bone Marrow Failure Syndromes; IBMFS; Inherited BMF Syndrome; Inherited BMF Syndromes; Inherited Bone Marrow Failure Syndrome; Inherited Bone Marrow Failure Syndromes

Definition

A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInherited bone marrow failure syndrome

Professional guidelines

PubMed

Recent advances in the diagnosis and treatment of pediatric acquired aplastic anemia.
Yoshida N
Int J Hematol 2024 Mar;119(3):240-247. Epub 2023 Mar 3 doi: 10.1007/s12185-023-03564-4. PMID: 36867357
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Aplastic anaemia: Current concepts in diagnosis and management.
Furlong E, Carter T
J Paediatr Child Health 2020 Jul;56(7):1023-1028. Epub 2020 Jul 3 doi: 10.1111/jpc.14996. PMID: 32619069

Recent clinical studies

Diagnosis

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H, Walne AJ, Badat M, Patel M, Walne AM, Alnajar J, Chow CC, Albursan I, Frost JM, Ballard D, Killick S, Szitányi P, Kelly AM, Raghavan M, Powell C, Raymakers R, Todd T, Mantadakis E, Polychronopoulou S, Pontikos N, Liao T, Madapura P, Hossain U, Vulliamy T, Dokal I
EMBO Mol Med 2024 Oct;16(10):2560-2582. Epub 2024 Aug 28 doi: 10.1038/s44321-024-00118-x. PMID: 39198715Free PMC Article
Genomic insights into inherited bone marrow failure syndromes in a Korean population.
Lee JM, Kim HS, Yoo J, Lee J, Ahn A, Cho H, Han EH, Jung J, Yoo JW, Kim S, Lee JW, Cho B, Chung NG, Kim M, Kim Y
Br J Haematol 2024 Oct;205(4):1581-1589. Epub 2024 May 12 doi: 10.1111/bjh.19509. PMID: 38735735

Therapy

Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag.
Duncan BB, Lotter JL, Superata J, Barranta ME, Machado T, Darden I, Venugopal S, Wu CO, Abkowitz JL, Dunbar CE, Young DJ
Br J Haematol 2024 May;204(5):2077-2085. Epub 2024 Mar 10 doi: 10.1111/bjh.19357. PMID: 38462764Free PMC Article
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ
Pediatr Res 2022 Dec;92(6):1671-1680. Epub 2022 Mar 23 doi: 10.1038/s41390-022-02009-8. PMID: 35322185Free PMC Article
Diamond-Blackfan anemia.
Da Costa L, Leblanc T, Mohandas N
Blood 2020 Sep 10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755Free PMC Article
How I treat Diamond-Blackfan anemia.
Vlachos A, Muir E
Blood 2010 Nov 11;116(19):3715-23. Epub 2010 Jul 22 doi: 10.1182/blood-2010-02-251090. PMID: 20651069Free PMC Article

Prognosis

Aplastic anemia: history and recent developments in diagnosis and treatment.
Onishi Y
Int J Hematol 2024 Mar;119(3):217-219. Epub 2024 Feb 4 doi: 10.1007/s12185-024-03715-1. PMID: 38310173
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Aplastic anaemia: Current concepts in diagnosis and management.
Furlong E, Carter T
J Paediatr Child Health 2020 Jul;56(7):1023-1028. Epub 2020 Jul 3 doi: 10.1111/jpc.14996. PMID: 32619069
Pediatric myelodysplastic syndromes: they do exist!
Glaubach T, Robinson LJ, Corey SJ
J Pediatr Hematol Oncol 2014 Jan;36(1):1-7. doi: 10.1097/MPH.0000000000000046. PMID: 24345881
Cancer in dyskeratosis congenita.
Alter BP, Giri N, Savage SA, Rosenberg PS
Blood 2009 Jun 25;113(26):6549-57. Epub 2009 Mar 12 doi: 10.1182/blood-2008-12-192880. PMID: 19282459Free PMC Article

Clinical prediction guides

HLA-haploidentical stem cell transplantation in children with inherited bone marrow failure syndromes: A retrospective analysis on behalf of EBMT severe aplastic Anemia and pediatric diseases working parties.
Giardino S, Eikema DJ, Piepenbroek B, Algeri M, Ayas M, Faraci M, Tbakhi A, Zecca M, Essa M, Neven B, Bertrand Y, Kharya G, Bykova T, Lawson S, Petrini M, Mohseny A, Rialland F, James B, Colita A, Fahd M, Cesaro S, Schulz A, Kleinschmidt K, Kałwak K, Corbacioglu S, Dufour C, Risitano A, de Latour RP
Am J Hematol 2024 Jun;99(6):1066-1076. Epub 2024 Mar 18 doi: 10.1002/ajh.27293. PMID: 38497679
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM
Blood 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. PMID: 35776903Free PMC Article
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ
Pediatr Res 2022 Dec;92(6):1671-1680. Epub 2022 Mar 23 doi: 10.1038/s41390-022-02009-8. PMID: 35322185Free PMC Article
Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article
Cancer in dyskeratosis congenita.
Alter BP, Giri N, Savage SA, Rosenberg PS
Blood 2009 Jun 25;113(26):6549-57. Epub 2009 Mar 12 doi: 10.1182/blood-2008-12-192880. PMID: 19282459Free PMC Article

Recent systematic reviews

Allogeneic hematopoietic stem cell transplantation for dyskeratosis congenita.
Elmahadi S, Muramatsu H, Kojima S
Curr Opin Hematol 2016 Nov;23(6):501-507. doi: 10.1097/MOH.0000000000000290. PMID: 27607446

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