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Myelodysplastic syndrome with ring sideroblasts

MedGen UID:
865038
•Concept ID:
C4016601
•
Disease or Syndrome
Synonym: Acquired idiopathic sideroblastic anemia
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019157
OMIM®: 516030
Orphanet: ORPHA75564

Definition

A rare myelodysplastic syndrome (MDS) characterized by ineffective hemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelodysplastic syndrome with ring sideroblasts

Recent clinical studies

Etiology

Luspatercept in combination with recombinant erythropoietin in patients with myelodysplastic syndrome with ring sideroblasts: Stimulating early and late-stage erythropoiesis.
Fattizzo B, Versino F, Bortolotti M, Rizzo L, Riva M, Barcellini W
Eur J Haematol 2023 May;110(5):571-574. Epub 2023 Feb 12 doi: 10.1111/ejh.13933. PMID: 36727250
Comparison of therapy-related myelodysplastic syndrome with ring sideroblasts and de novo myelodysplastic syndrome with ring sideroblasts.
Chen Z, Wang SA, Goswami M, Tang G, Routbort MJ, Patel KP, Luthra R, Medeiros LJ, Ok CY
Leuk Res 2019 Nov;86:106227. Epub 2019 Sep 17 doi: 10.1016/j.leukres.2019.106227. PMID: 31557598
Somatic SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts and chronic lymphocytic leukaemia.
Foy A, McMullin MF
J Clin Pathol 2019 Nov;72(11):778-782. Epub 2019 Aug 31 doi: 10.1136/jclinpath-2019-205895. PMID: 31473630
SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis.
Zhu Y, Li X, Chang C, Xu F, He Q, Guo J, Tao Y, Liu Y, Liu L, Shi W
Leuk Res 2016 May;44:8-16. Epub 2016 Feb 27 doi: 10.1016/j.leukres.2016.02.011. PMID: 26970172
Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts.
del Rey M, Benito R, Fontanillo C, Campos-Laborie FJ, Janusz K, Velasco-Hernández T, Abáigar M, Hernández M, Cuello R, Borrego D, Martín-Zanca D, De Las Rivas J, Mills KI, Hernández-Rivas JM
PLoS One 2015;10(5):e0126555. Epub 2015 May 8 doi: 10.1371/journal.pone.0126555. PMID: 25955609Free PMC Article

Diagnosis

Luspatercept in combination with recombinant erythropoietin in patients with myelodysplastic syndrome with ring sideroblasts: Stimulating early and late-stage erythropoiesis.
Fattizzo B, Versino F, Bortolotti M, Rizzo L, Riva M, Barcellini W
Eur J Haematol 2023 May;110(5):571-574. Epub 2023 Feb 12 doi: 10.1111/ejh.13933. PMID: 36727250
Myelodysplastic syndrome with ring sideroblasts presenting as postmediastinal extramedullary hematopoiesis.
Satoh T, Kayano H
Blood 2020 Sep 3;136(10):1213. doi: 10.1182/blood.2020006260. PMID: 32882020
Evaluation of SF3B1 Mutation Screening by High-Resolution Melting Analysis and its Clinical Utility for Myelodysplastic Syndrome with Ring Sideroblasts at the Point of Diagnosis.
Mizuta S, Yamane N, Komai T, Koba Y, Ukyo N, Tamekane A, Watanabe M
Lab Med 2019 Jul 16;50(3):254-262. doi: 10.1093/labmed/lmy070. PMID: 30590617
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.
Malcovati L, Karimi M, Papaemmanuil E, Ambaglio I, Jädersten M, Jansson M, Elena C, Gallì A, Walldin G, Della Porta MG, Raaschou-Jensen K, Travaglino E, Kallenbach K, Pietra D, Ljungström V, Conte S, Boveri E, Invernizzi R, Rosenquist R, Campbell PJ, Cazzola M, Hellström Lindberg E
Blood 2015 Jul 9;126(2):233-41. Epub 2015 May 8 doi: 10.1182/blood-2015-03-633537. PMID: 25957392Free PMC Article
Chronic lymphocytic leukemia associated with myelodysplastic syndrome with ring sideroblasts.
Charafeddine KM, Ibrahim GY, Mahfouz RA, Zaatari GS, Salem ZM
South Med J 2010 Aug;103(8):823-7. doi: 10.1097/SMJ.0b013e3181e6d2b4. PMID: 20622728

Therapy

Luspatercept in combination with recombinant erythropoietin in patients with myelodysplastic syndrome with ring sideroblasts: Stimulating early and late-stage erythropoiesis.
Fattizzo B, Versino F, Bortolotti M, Rizzo L, Riva M, Barcellini W
Eur J Haematol 2023 May;110(5):571-574. Epub 2023 Feb 12 doi: 10.1111/ejh.13933. PMID: 36727250
Vitamin B6 Deficiency Anemia Attributed to Levodopa/Carbidopa Intestinal Gel Therapy for Parkinson's Disease: A Diagnostic Pitfall for Myelodysplastic Syndrome with Ring Sideroblasts.
Yasuda H, Hatano T, Honda T, Tsutsui M, Hattori N, Ando M, Komatsu N
Intern Med 2022 Dec 15;61(24):3719-3722. Epub 2022 May 14 doi: 10.2169/internalmedicine.9577-22. PMID: 35569990Free PMC Article

Prognosis

Comparison of therapy-related myelodysplastic syndrome with ring sideroblasts and de novo myelodysplastic syndrome with ring sideroblasts.
Chen Z, Wang SA, Goswami M, Tang G, Routbort MJ, Patel KP, Luthra R, Medeiros LJ, Ok CY
Leuk Res 2019 Nov;86:106227. Epub 2019 Sep 17 doi: 10.1016/j.leukres.2019.106227. PMID: 31557598
Somatic SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts and chronic lymphocytic leukaemia.
Foy A, McMullin MF
J Clin Pathol 2019 Nov;72(11):778-782. Epub 2019 Aug 31 doi: 10.1136/jclinpath-2019-205895. PMID: 31473630
Evaluation of SF3B1 Mutation Screening by High-Resolution Melting Analysis and its Clinical Utility for Myelodysplastic Syndrome with Ring Sideroblasts at the Point of Diagnosis.
Mizuta S, Yamane N, Komai T, Koba Y, Ukyo N, Tamekane A, Watanabe M
Lab Med 2019 Jul 16;50(3):254-262. doi: 10.1093/labmed/lmy070. PMID: 30590617
SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis.
Zhu Y, Li X, Chang C, Xu F, He Q, Guo J, Tao Y, Liu Y, Liu L, Shi W
Leuk Res 2016 May;44:8-16. Epub 2016 Feb 27 doi: 10.1016/j.leukres.2016.02.011. PMID: 26970172
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.
Malcovati L, Karimi M, Papaemmanuil E, Ambaglio I, Jädersten M, Jansson M, Elena C, Gallì A, Walldin G, Della Porta MG, Raaschou-Jensen K, Travaglino E, Kallenbach K, Pietra D, Ljungström V, Conte S, Boveri E, Invernizzi R, Rosenquist R, Campbell PJ, Cazzola M, Hellström Lindberg E
Blood 2015 Jul 9;126(2):233-41. Epub 2015 May 8 doi: 10.1182/blood-2015-03-633537. PMID: 25957392Free PMC Article

Clinical prediction guides

Evaluation of SF3B1 Mutation Screening by High-Resolution Melting Analysis and its Clinical Utility for Myelodysplastic Syndrome with Ring Sideroblasts at the Point of Diagnosis.
Mizuta S, Yamane N, Komai T, Koba Y, Ukyo N, Tamekane A, Watanabe M
Lab Med 2019 Jul 16;50(3):254-262. doi: 10.1093/labmed/lmy070. PMID: 30590617
SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis.
Zhu Y, Li X, Chang C, Xu F, He Q, Guo J, Tao Y, Liu Y, Liu L, Shi W
Leuk Res 2016 May;44:8-16. Epub 2016 Feb 27 doi: 10.1016/j.leukres.2016.02.011. PMID: 26970172
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.
Malcovati L, Karimi M, Papaemmanuil E, Ambaglio I, Jädersten M, Jansson M, Elena C, Gallì A, Walldin G, Della Porta MG, Raaschou-Jensen K, Travaglino E, Kallenbach K, Pietra D, Ljungström V, Conte S, Boveri E, Invernizzi R, Rosenquist R, Campbell PJ, Cazzola M, Hellström Lindberg E
Blood 2015 Jul 9;126(2):233-41. Epub 2015 May 8 doi: 10.1182/blood-2015-03-633537. PMID: 25957392Free PMC Article
Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts.
del Rey M, Benito R, Fontanillo C, Campos-Laborie FJ, Janusz K, Velasco-Hernández T, Abáigar M, Hernández M, Cuello R, Borrego D, Martín-Zanca D, De Las Rivas J, Mills KI, Hernández-Rivas JM
PLoS One 2015;10(5):e0126555. Epub 2015 May 8 doi: 10.1371/journal.pone.0126555. PMID: 25955609Free PMC Article

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    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myelodysplastic Syndromes, 2024

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