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Familial Myelodysplastic Syndrome

MedGen UID:
1711283
•Concept ID:
C5239087
•
Neoplastic Process
Synonym: Familial MDS

Definition

Myelodysplastic syndrome caused by inherited damaging mutations in cancer susceptibility genes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial Myelodysplastic Syndrome

Professional guidelines

PubMed

Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes.
Churpek JE, Lorenz R, Nedumgottil S, Onel K, Olopade OI, Sorrell A, Owen CJ, Bertuch AA, Godley LA
Leuk Lymphoma 2013 Jan;54(1):28-35. Epub 2012 Jul 9 doi: 10.3109/10428194.2012.701738. PMID: 22691122

Recent clinical studies

Etiology

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations.
Maciejewski-Duval A, Meuris F, Bignon A, Aknin ML, Balabanian K, Faivre L, Pasquet M, Barlogis V, Fieschi C, Bellanné-Chantelot C, Donadieu J, Schlecht-Louf G, Marin-Esteban V, Bachelerie F
J Leukoc Biol 2016 Jun;99(6):1065-76. Epub 2015 Dec 28 doi: 10.1189/jlb.5MA0815-388R. PMID: 26710799
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.
Ganapathi KA, Townsley DM, Hsu AP, Arthur DC, Zerbe CS, Cuellar-Rodriguez J, Hickstein DD, Rosenzweig SD, Braylan RC, Young NS, Holland SM, Calvo KR
Blood 2015 Jan 1;125(1):56-70. Epub 2014 Oct 30 doi: 10.1182/blood-2014-06-580340. PMID: 25359990Free PMC Article
Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations.
West AH, Godley LA, Churpek JE
Ann N Y Acad Sci 2014 Mar;1310(1):111-8. Epub 2014 Jan 27 doi: 10.1111/nyas.12346. PMID: 24467820Free PMC Article
Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
Bödör C, Renneville A, Smith M, Charazac A, Iqbal S, Etancelin P, Cavenagh J, Barnett MJ, Kramarzová K, Krishnan B, Matolcsy A, Preudhomme C, Fitzgibbon J, Owen C
Haematologica 2012 Jun;97(6):890-4. Epub 2012 Jan 22 doi: 10.3324/haematol.2011.054361. PMID: 22271902Free PMC Article
Familial myelodysplastic syndromes: a review of the literature.
Liew E, Owen C
Haematologica 2011 Oct;96(10):1536-42. Epub 2011 May 23 doi: 10.3324/haematol.2011.043422. PMID: 21606161Free PMC Article

Diagnosis

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW
Haematologica 2018 Mar;103(3):427-437. Epub 2017 Dec 7 doi: 10.3324/haematol.2017.180778. PMID: 29217778Free PMC Article
Familial myelodysplastic syndrome/acute myeloid leukemia.
Churpek JE
Best Pract Res Clin Haematol 2017 Dec;30(4):287-289. Epub 2017 Oct 4 doi: 10.1016/j.beha.2017.10.002. PMID: 29156196Free PMC Article
Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations.
West AH, Godley LA, Churpek JE
Ann N Y Acad Sci 2014 Mar;1310(1):111-8. Epub 2014 Jan 27 doi: 10.1111/nyas.12346. PMID: 24467820Free PMC Article
Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes.
Churpek JE, Lorenz R, Nedumgottil S, Onel K, Olopade OI, Sorrell A, Owen CJ, Bertuch AA, Godley LA
Leuk Lymphoma 2013 Jan;54(1):28-35. Epub 2012 Jul 9 doi: 10.3109/10428194.2012.701738. PMID: 22691122
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS
Nat Genet 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913. PMID: 21892162Free PMC Article

Therapy

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW
Haematologica 2018 Mar;103(3):427-437. Epub 2017 Dec 7 doi: 10.3324/haematol.2017.180778. PMID: 29217778Free PMC Article

Prognosis

Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
Bödör C, Renneville A, Smith M, Charazac A, Iqbal S, Etancelin P, Cavenagh J, Barnett MJ, Kramarzová K, Krishnan B, Matolcsy A, Preudhomme C, Fitzgibbon J, Owen C
Haematologica 2012 Jun;97(6):890-4. Epub 2012 Jan 22 doi: 10.3324/haematol.2011.054361. PMID: 22271902Free PMC Article
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS
Nat Genet 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913. PMID: 21892162Free PMC Article
Cancer in relatives of children with myelodysplastic syndrome, acute and chronic myeloid leukaemia.
Hasle H, Olsen JH
Br J Haematol 1997 Apr;97(1):127-31. doi: 10.1046/j.1365-2141.1997.202664.x. PMID: 9136952
Familial myelodysplastic syndrome with onset late in life.
Marsden K, Challis D, Kimber R
Am J Hematol 1995 Jun;49(2):153-6. doi: 10.1002/ajh.2830490210. PMID: 7771468

Clinical prediction guides

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW
Haematologica 2018 Mar;103(3):427-437. Epub 2017 Dec 7 doi: 10.3324/haematol.2017.180778. PMID: 29217778Free PMC Article
Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.
Bödör C, Renneville A, Smith M, Charazac A, Iqbal S, Etancelin P, Cavenagh J, Barnett MJ, Kramarzová K, Krishnan B, Matolcsy A, Preudhomme C, Fitzgibbon J, Owen C
Haematologica 2012 Jun;97(6):890-4. Epub 2012 Jan 22 doi: 10.3324/haematol.2011.054361. PMID: 22271902Free PMC Article
Cancer in relatives of children with myelodysplastic syndrome, acute and chronic myeloid leukaemia.
Hasle H, Olsen JH
Br J Haematol 1997 Apr;97(1):127-31. doi: 10.1046/j.1365-2141.1997.202664.x. PMID: 9136952

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