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Hereditary Myelodysplastic Syndrome

MedGen UID:
1711283
•Concept ID:
C5239087
•
Neoplastic Process
Synonyms: Familial MDS; Familial Myelodysplastic Syndrome; Hereditary MDS; Myelodysplastic Syndrome with Genetic Predisposition

Definition

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

Term Hierarchy

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

Professional guidelines

PubMed

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L, Johnson AK, Alkorta-Aranburu G, Nelakuditi V, Arndt K, Churpek JE, Godley LA, Townsley D, Young NS, Fitzpatrick C, Del Gaudio D, Das S, Li Z
Leukemia 2017 May;31(5):1226-1229. Epub 2017 Jan 20 doi: 10.1038/leu.2017.28. PMID: 28104920Free PMC Article

Recent clinical studies

Etiology

Neutrophilic dermatoses.
Delaleu J, Lepelletier C, Calugareanu A, De Masson A, Charvet E, Petit A, Giurgea I, Amselem S, Karabina S, Jachiet M, Mahevas T, Ram-Wolff C, Vignon-Pennamen MD, Bagot M, Battistella M, Bouaziz JD
Rev Med Interne 2022 Dec;43(12):727-738. Epub 2022 Jul 20 doi: 10.1016/j.revmed.2022.06.007. PMID: 35870984
NCCN Guidelines® Insights: Myelodysplastic Syndromes, Version 3.2022.
Greenberg PL, Stone RM, Al-Kali A, Bennett JM, Borate U, Brunner AM, Chai-Ho W, Curtin P, de Castro CM, Deeg HJ, DeZern AE, Dinner S, Foucar C, Gaensler K, Garcia-Manero G, Griffiths EA, Head D, Jonas BA, Keel S, Madanat Y, Maness LJ, Mangan J, McCurdy S, McMahon C, Patel B, Reddy VV, Sallman DA, Shallis R, Shami PJ, Thota S, Varshavsky-Yanovsky AN, Westervelt P, Hollinger E, Shead DA, Hochstetler C
J Natl Compr Canc Netw 2022 Feb;20(2):106-117. doi: 10.6004/jnccn.2022.0009. PMID: 35130502
Laboratory Approach to Hemolytic Anemia.
Jamwal M, Sharma P, Das R
Indian J Pediatr 2020 Jan;87(1):66-74. Epub 2019 Dec 10 doi: 10.1007/s12098-019-03119-8. PMID: 31823208
Hereditary myeloid malignancies.
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Hematologic malignancies and Li-Fraumeni syndrome.
Swaminathan M, Bannon SA, Routbort M, Naqvi K, Kadia TM, Takahashi K, Alvarado Y, Ravandi-Kashani F, Patel KP, Champlin R, Kantarjian H, Strong L, DiNardo CD
Cold Spring Harb Mol Case Stud 2019 Feb;5(1) Epub 2019 Feb 1 doi: 10.1101/mcs.a003210. PMID: 30709875Free PMC Article

Diagnosis

VEXAS syndrome: An update.
Khitri MY, Hadjadj J, Mekinian A, Jachiet V
Joint Bone Spine 2024 Jul;91(4):105700. Epub 2024 Feb 1 doi: 10.1016/j.jbspin.2024.105700. PMID: 38307404
Neutrophilic dermatoses.
Delaleu J, Lepelletier C, Calugareanu A, De Masson A, Charvet E, Petit A, Giurgea I, Amselem S, Karabina S, Jachiet M, Mahevas T, Ram-Wolff C, Vignon-Pennamen MD, Bagot M, Battistella M, Bouaziz JD
Rev Med Interne 2022 Dec;43(12):727-738. Epub 2022 Jul 20 doi: 10.1016/j.revmed.2022.06.007. PMID: 35870984
Iron overload disorders.
Hsu CC, Senussi NH, Fertrin KY, Kowdley KV
Hepatol Commun 2022 Aug;6(8):1842-1854. Epub 2022 Jun 14 doi: 10.1002/hep4.2012. PMID: 35699322Free PMC Article
Hereditary myeloid malignancies.
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Hematologic malignancies and Li-Fraumeni syndrome.
Swaminathan M, Bannon SA, Routbort M, Naqvi K, Kadia TM, Takahashi K, Alvarado Y, Ravandi-Kashani F, Patel KP, Champlin R, Kantarjian H, Strong L, DiNardo CD
Cold Spring Harb Mol Case Stud 2019 Feb;5(1) Epub 2019 Feb 1 doi: 10.1101/mcs.a003210. PMID: 30709875Free PMC Article

Therapy

Olaparib tablets as maintenance therapy in patients with platinum-sensitive relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21): a final analysis of a double-blind, randomised, placebo-controlled, phase 3 trial.
Poveda A, Floquet A, Ledermann JA, Asher R, Penson RT, Oza AM, Korach J, Huzarski T, Pignata S, Friedlander M, Baldoni A, Park-Simon TW, Tamura K, Sonke GS, Lisyanskaya A, Kim JH, Filho EA, Milenkova T, Lowe ES, Rowe P, Vergote I, Pujade-Lauraine E; SOLO2/ENGOT-Ov21 investigators
Lancet Oncol 2021 May;22(5):620-631. Epub 2021 Mar 18 doi: 10.1016/S1470-2045(21)00073-5. PMID: 33743851
Applying complement therapeutics to rare diseases.
Reis ES, Mastellos DC, Yancopoulou D, Risitano AM, Ricklin D, Lambris JD
Clin Immunol 2015 Dec;161(2):225-40. Epub 2015 Sep 1 doi: 10.1016/j.clim.2015.08.009. PMID: 26341313Free PMC Article
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Babushok DV, Bessler M
Best Pract Res Clin Haematol 2015 Mar;28(1):55-68. Epub 2014 Nov 12 doi: 10.1016/j.beha.2014.11.004. PMID: 25659730Free PMC Article
Iron chelation therapy for patients with myelodysplastic syndrome.
Yeh SP, Yang YS, Yao CY, Peng CT
Hemoglobin 2009;33(5):339-45. doi: 10.3109/03630260903212654. PMID: 19814680
Iron overload.
Iancu TC
Mol Aspects Med 1983;6(1):1-100. doi: 10.1016/0098-2997(83)90004-3. PMID: 6371428

Prognosis

VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.
Vitale A, Caggiano V, Bimonte A, Caroni F, Tosi GM, Fabbiani A, Renieri A, Bocchia M, Frediani B, Fabiani C, Cantarini L
Intern Emerg Med 2023 Apr;18(3):711-722. Epub 2023 Jan 20 doi: 10.1007/s11739-023-03193-z. PMID: 36662445Free PMC Article
NCCN Guidelines® Insights: Myelodysplastic Syndromes, Version 3.2022.
Greenberg PL, Stone RM, Al-Kali A, Bennett JM, Borate U, Brunner AM, Chai-Ho W, Curtin P, de Castro CM, Deeg HJ, DeZern AE, Dinner S, Foucar C, Gaensler K, Garcia-Manero G, Griffiths EA, Head D, Jonas BA, Keel S, Madanat Y, Maness LJ, Mangan J, McCurdy S, McMahon C, Patel B, Reddy VV, Sallman DA, Shallis R, Shami PJ, Thota S, Varshavsky-Yanovsky AN, Westervelt P, Hollinger E, Shead DA, Hochstetler C
J Natl Compr Canc Netw 2022 Feb;20(2):106-117. doi: 10.6004/jnccn.2022.0009. PMID: 35130502
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A
J Allergy Clin Immunol 2022 Jan;149(1):432-439.e4. Epub 2021 May 25 doi: 10.1016/j.jaci.2021.05.014. PMID: 34048852
Cerebrovascular Complications of Anemia.
Fonseca AC, Silva DP, Infante J, Ferro JM
Curr Neurol Neurosci Rep 2021 Sep 3;21(10):51. doi: 10.1007/s11910-021-01141-y. PMID: 34480226
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article

Clinical prediction guides

GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A
Br J Haematol 2022 Nov;199(4):482-495. Epub 2022 Jun 26 doi: 10.1111/bjh.18330. PMID: 35753998Free PMC Article
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Hematological Malignancies in Adults With a Family Predisposition.
Bochtler T, Haag GM, Schott S, Kloor M, Krämer A, Müller-Tidow C
Dtsch Arztebl Int 2018 Dec 14;115(50):848-854. doi: 10.3238/arztebl.2018.0848. PMID: 30722840Free PMC Article
Anemia as the Main Manifestation of Myelodysplastic Syndromes.
Santini V
Semin Hematol 2015 Oct;52(4):348-56. Epub 2015 Jun 30 doi: 10.1053/j.seminhematol.2015.06.002. PMID: 26404446
Acquired platelet function defects.
Bick RL
Hematol Oncol Clin North Am 1992 Dec;6(6):1203-28. PMID: 1452509

Recent systematic reviews

The role of (18)FDG-PET imaging in VEXAS syndrome: a multicentric case series and a systematic review of the literature.
Bixio R, Bindoli S, Morciano A, Padoan R, Aldegheri F, Mastropaolo F, Bertoldo E, Rotta D, Appoloni M, Orsolini G, Gatti D, Adami G, Viapiana O, Rossini M, Sfriso P, Fassio A
Intern Emerg Med 2024 Nov;19(8):2331-2345. Epub 2024 Sep 9 doi: 10.1007/s11739-024-03763-9. PMID: 39251478
Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review.
Kouranloo K, Dey M, Almutawa J, Myall N, Nune A
Rheumatol Int 2024 Jul;44(7):1219-1232. Epub 2023 Dec 21 doi: 10.1007/s00296-023-05513-0. PMID: 38129348
Accuracy of magnetic resonance imaging in diagnosis of liver iron overload: a systematic review and meta-analysis.
Sarigianni M, Liakos A, Vlachaki E, Paschos P, Athanasiadou E, Montori VM, Murad MH, Tsapas A
Clin Gastroenterol Hepatol 2015 Jan;13(1):55-63.e5. Epub 2014 Jun 30 doi: 10.1016/j.cgh.2014.05.027. PMID: 24993364

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