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Refractory cytopenia with unilineage dysplasia

MedGen UID:
415300
•Concept ID:
C2826318
•
Neoplastic Process
Synonym: Myelodysplastic syndrome with single lineage dysplasia
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:0005272
Orphanet: ORPHA98826

Definition

Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage. [from ORDO]

Professional guidelines

PubMed

Monitoring of the Clonal Fraction by Fluorescence In Situ Hybridization in Myelodysplastic Syndrome: Comparison With International Working Group Treatment Response Criteria.
Park JH, Kim M, Kong SY, Yoon SS, Lee DS
Arch Pathol Lab Med 2016 Jun;140(6):560-9. doi: 10.5858/arpa.2015-0150-OA. PMID: 27232348
Integrating WHO 2001-2008 criteria for the diagnosis of Myelodysplastic Syndrome (MDS): a case-case analysis of benzene exposure.
Irons RD, Gross SA, Le A, Wang XQ, Chen Y, Ryder J, Schnatter AR
Chem Biol Interact 2010 Mar 19;184(1-2):30-8. Epub 2009 Nov 24 doi: 10.1016/j.cbi.2009.11.016. PMID: 19941839

Recent clinical studies

Etiology

Epigenetic changes in FOXO3 and CHEK2 genes and their correlation with clinicopathological findings in myelodysplastic syndromes.
Sharifi MJ, Zaker F, Nasiri N, Yaghmaie M
Hematol Oncol Stem Cell Ther 2020 Dec;13(4):214-219. Epub 2020 Mar 18 doi: 10.1016/j.hemonc.2019.11.004. PMID: 32217071
Prediction of progression from refractory cytopenia with unilineage dysplasia by analysis of bone marrow blast cell composition.
Oka S, Muroi K, Fujiwara S, Oh I, Matsuyama T, Ohmine K, Suzuki T, Ozaki K, Mori M, Nagai T, Ozawa K, Hanafusa T
J Clin Exp Hematop 2012;52(1):63-6. doi: 10.3960/jslrt.52.63. PMID: 22706533
Recent advances in the diagnosis and classification of myeloid neoplasms--comments on the 2008 WHO classification.
Yin CC, Medeiros LJ, Bueso-Ramos CE
Int J Lab Hematol 2010 Oct;32(5):461-76. Epub 2010 Jul 7 doi: 10.1111/j.1751-553X.2010.01246.x. PMID: 20626469Free PMC Article
Refractory cytopenia with unilineage dysplasia: analysis of prognostic factors and survival in 126 patients.
Breccia M, Latagliata R, Cannella L, Carmosino I, Santopietro M, Loglisci G, Federico V, Alimena G
Leuk Lymphoma 2010 May;51(5):783-8. doi: 10.3109/10428191003682759. PMID: 20302387
A comparative review of classification systems in myelodysplastic syndromes (MDS).
Bennett JM
Semin Oncol 2005 Aug;32(4 Suppl 5):S3-10. doi: 10.1053/j.seminoncol.2005.06.021. PMID: 16085011

Diagnosis

Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.
Malcovati L, Cazzola M
Br J Haematol 2016 Sep;174(6):847-58. Epub 2016 Jul 8 doi: 10.1111/bjh.14215. PMID: 27391606
Interobserver variance in myelodysplastic syndromes with less than 5 % bone marrow blasts: unilineage vs. multilineage dysplasia and reproducibility of the threshold of 2 % blasts.
Font P, Loscertales J, Soto C, Ricard P, Novas CM, Martín-Clavero E, López-Rubio M, Garcia-Alonso L, Callejas M, Bermejo A, Benavente C, Ballesteros M, Cedena T, Calbacho M, Urbina R, Villarrubia J, Gil S, Bellón JM, Diez-Martin JL, Villegas A
Ann Hematol 2015 Apr;94(4):565-73. Epub 2014 Nov 13 doi: 10.1007/s00277-014-2252-4. PMID: 25387664
Prediction of progression from refractory cytopenia with unilineage dysplasia by analysis of bone marrow blast cell composition.
Oka S, Muroi K, Fujiwara S, Oh I, Matsuyama T, Ohmine K, Suzuki T, Ozaki K, Mori M, Nagai T, Ozawa K, Hanafusa T
J Clin Exp Hematop 2012;52(1):63-6. doi: 10.3960/jslrt.52.63. PMID: 22706533
Recent advances in the diagnosis and classification of myeloid neoplasms--comments on the 2008 WHO classification.
Yin CC, Medeiros LJ, Bueso-Ramos CE
Int J Lab Hematol 2010 Oct;32(5):461-76. Epub 2010 Jul 7 doi: 10.1111/j.1751-553X.2010.01246.x. PMID: 20626469Free PMC Article
Refractory cytopenia with unilineage dysplasia: analysis of prognostic factors and survival in 126 patients.
Breccia M, Latagliata R, Cannella L, Carmosino I, Santopietro M, Loglisci G, Federico V, Alimena G
Leuk Lymphoma 2010 May;51(5):783-8. doi: 10.3109/10428191003682759. PMID: 20302387

Therapy

Eltrombopag for patients with moderate aplastic anemia or uni-lineage cytopenias.
Fan X, Desmond R, Winkler T, Young DJ, Dumitriu B, Townsley DM, Gutierrez-Rodrigues F, Lotter J, Valdez J, Sellers SE, Barranta ME, Shalhoub RN, Wu CO, Albitar M, Calvo KR, Young NS, Dunbar CE
Blood Adv 2020 Apr 28;4(8):1700-1710. doi: 10.1182/bloodadvances.2020001657. PMID: 32330244Free PMC Article
Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes.
Park S, Kosmider O, Maloisel F, Drenou B, Chapuis N, Lefebvre T, Karim Z, Puy H, Alary AS, Ducamp S, Verdier F, Bouilloux C, Rousseau A, Jacob MC, Debliquis A, Charpentier A, Gyan E, Anglaret B, Leyronnas C, Corm S, Slama B, Cheze S, Laribi K, Amé S, Rose C, Lachenal F, Toma A, Pica GM, Carre M, Garban F, Mariette C, Cahn JY, Meunier M, Herault O, Fenaux P, Wagner-Ballon O, Bardet V, Dreyfus F, Fontenay M
Haematologica 2019 Mar;104(3):497-504. Epub 2018 Oct 4 doi: 10.3324/haematol.2018.203158. PMID: 30287621Free PMC Article
Hospital-Based Case-Control Study of MDS Subtypes and Benzene Exposure in Shanghai.
Copley GB, Schnatter AR, Armstrong TW, Irons RD, Chen M, Wang XQ, Kerzic P
J Occup Environ Med 2017 Apr;59(4):349-355. doi: 10.1097/JOM.0000000000000952. PMID: 28146040Free PMC Article
Increased plasma thrombopoietin levels in patients with myelodysplastic syndrome: a reliable marker for a benign subset of bone marrow failure.
Seiki Y, Sasaki Y, Hosokawa K, Saito C, Sugimori N, Yamazaki H, Takami A, Nakao S
Haematologica 2013 Jun;98(6):901-7. Epub 2013 Feb 12 doi: 10.3324/haematol.2012.066217. PMID: 23403320Free PMC Article
Integrating WHO 2001-2008 criteria for the diagnosis of Myelodysplastic Syndrome (MDS): a case-case analysis of benzene exposure.
Irons RD, Gross SA, Le A, Wang XQ, Chen Y, Ryder J, Schnatter AR
Chem Biol Interact 2010 Mar 19;184(1-2):30-8. Epub 2009 Nov 24 doi: 10.1016/j.cbi.2009.11.016. PMID: 19941839

Prognosis

Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.
Malcovati L, Cazzola M
Br J Haematol 2016 Sep;174(6):847-58. Epub 2016 Jul 8 doi: 10.1111/bjh.14215. PMID: 27391606
Interobserver variance in myelodysplastic syndromes with less than 5 % bone marrow blasts: unilineage vs. multilineage dysplasia and reproducibility of the threshold of 2 % blasts.
Font P, Loscertales J, Soto C, Ricard P, Novas CM, Martín-Clavero E, López-Rubio M, Garcia-Alonso L, Callejas M, Bermejo A, Benavente C, Ballesteros M, Cedena T, Calbacho M, Urbina R, Villarrubia J, Gil S, Bellón JM, Diez-Martin JL, Villegas A
Ann Hematol 2015 Apr;94(4):565-73. Epub 2014 Nov 13 doi: 10.1007/s00277-014-2252-4. PMID: 25387664
Prediction of progression from refractory cytopenia with unilineage dysplasia by analysis of bone marrow blast cell composition.
Oka S, Muroi K, Fujiwara S, Oh I, Matsuyama T, Ohmine K, Suzuki T, Ozaki K, Mori M, Nagai T, Ozawa K, Hanafusa T
J Clin Exp Hematop 2012;52(1):63-6. doi: 10.3960/jslrt.52.63. PMID: 22706533
Recent advances in the diagnosis and classification of myeloid neoplasms--comments on the 2008 WHO classification.
Yin CC, Medeiros LJ, Bueso-Ramos CE
Int J Lab Hematol 2010 Oct;32(5):461-76. Epub 2010 Jul 7 doi: 10.1111/j.1751-553X.2010.01246.x. PMID: 20626469Free PMC Article
Refractory cytopenia with unilineage dysplasia: analysis of prognostic factors and survival in 126 patients.
Breccia M, Latagliata R, Cannella L, Carmosino I, Santopietro M, Loglisci G, Federico V, Alimena G
Leuk Lymphoma 2010 May;51(5):783-8. doi: 10.3109/10428191003682759. PMID: 20302387

Clinical prediction guides

Epigenetic changes in FOXO3 and CHEK2 genes and their correlation with clinicopathological findings in myelodysplastic syndromes.
Sharifi MJ, Zaker F, Nasiri N, Yaghmaie M
Hematol Oncol Stem Cell Ther 2020 Dec;13(4):214-219. Epub 2020 Mar 18 doi: 10.1016/j.hemonc.2019.11.004. PMID: 32217071
Interobserver variance in myelodysplastic syndromes with less than 5 % bone marrow blasts: unilineage vs. multilineage dysplasia and reproducibility of the threshold of 2 % blasts.
Font P, Loscertales J, Soto C, Ricard P, Novas CM, Martín-Clavero E, López-Rubio M, Garcia-Alonso L, Callejas M, Bermejo A, Benavente C, Ballesteros M, Cedena T, Calbacho M, Urbina R, Villarrubia J, Gil S, Bellón JM, Diez-Martin JL, Villegas A
Ann Hematol 2015 Apr;94(4):565-73. Epub 2014 Nov 13 doi: 10.1007/s00277-014-2252-4. PMID: 25387664
Prediction of progression from refractory cytopenia with unilineage dysplasia by analysis of bone marrow blast cell composition.
Oka S, Muroi K, Fujiwara S, Oh I, Matsuyama T, Ohmine K, Suzuki T, Ozaki K, Mori M, Nagai T, Ozawa K, Hanafusa T
J Clin Exp Hematop 2012;52(1):63-6. doi: 10.3960/jslrt.52.63. PMID: 22706533
Refractory cytopenia with unilineage dysplasia: analysis of prognostic factors and survival in 126 patients.
Breccia M, Latagliata R, Cannella L, Carmosino I, Santopietro M, Loglisci G, Federico V, Alimena G
Leuk Lymphoma 2010 May;51(5):783-8. doi: 10.3109/10428191003682759. PMID: 20302387
A comparative review of classification systems in myelodysplastic syndromes (MDS).
Bennett JM
Semin Oncol 2005 Aug;32(4 Suppl 5):S3-10. doi: 10.1053/j.seminoncol.2005.06.021. PMID: 16085011

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