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Hereditary Myelodysplastic Syndrome

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

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

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

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
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
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
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
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

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
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
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
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
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

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
Nenova I, Grudeva-Popova J
J BUON 2017 Nov-Dec;22(6):1378-1384. PMID: 29332326
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
Xu M, Hou Y, Sheng L, Peng J
Front Med 2013 Sep;7(3):290-300. Epub 2013 Jul 15 doi: 10.1007/s11684-013-0277-z. PMID: 23856973
Gattermann N
Dtsch Arztebl Int 2009 Jul;106(30):499-504, I. Epub 2009 Jul 24 doi: 10.3238/arztebl.2009.0499. PMID: 19727383Free PMC Article

Prognosis

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
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
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
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
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

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
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
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
Nenova I, Grudeva-Popova J
J BUON 2017 Nov-Dec;22(6):1378-1384. PMID: 29332326
Santini V
Semin Hematol 2015 Oct;52(4):348-56. Epub 2015 Jun 30 doi: 10.1053/j.seminhematol.2015.06.002. PMID: 26404446

Recent systematic reviews

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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