5q– as the only cytogenetic abnormality in myelodysplastic syndrome with blast excess
- Authors: Pautova M.N.1, Koloskova L.E.2, Koloskov A.V.1, Marchenko V.N.3
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Affiliations:
- City Hospital No. 26
- Medical Laboratory SPb
- I.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of Russia
- Issue: Vol 20, No 2 (2025)
- Pages: 75-79
- Section: RARE AND COMPLEX CLINICAL SITUATIONS: DIAGNOSIS AND TREATMENT CHOICE
- Published: 22.05.2025
- URL: https://oncohematology.abvpress.ru/ongm/article/view/1031
- DOI: https://doi.org/10.17650/1818-8346-2025-20-2-75-79
- ID: 1031
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Abstract
Cytogenetic studies are required for the diagnosis of myelodysplastic neoplasms (MDS) because the World Health Organization 2022 classification divides MDS into a group with defined genetic abnormalities and MDS that are defined morphologically. Additionally, this paper modifies the terminology to clarify the distinction between MDS with low (<5 % in bone marrow) and increased blast cell counts (5–9 % for MDS with blast excess 1 and 10–19 % for MDS with blast excess 2).
This article describes the clinical observation of a patient with blast excess MDS and isolated 5q deletion.
About the authors
M. N. Pautova
City Hospital No. 26
Author for correspondence.
Email: paytova.marinaa@gmail.com
ORCID iD: 0009-0004-7215-791X
Marina Nikolaevna Pautova
2 Kostyushko St., Saint Petersburg 196247
Russian FederationL. E. Koloskova
Medical Laboratory SPb
ORCID iD: 0000-0002-5221-8832
4H, lit. A, 71 Obukhovskoy Oborony Prospekt, Saint Petersburg 192029
Russian FederationA. V. Koloskov
City Hospital No. 26
ORCID iD: 0000-0002-5249-4255
2 Kostyushko St., Saint Petersburg 196247
Russian FederationV. N. Marchenko
I.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of Russia
ORCID iD: 0000-0002-2440-7222
6–8 L’va Tolstogo St., Saint Petersburg 197022
Russian FederationReferences
- Vardiman J.W., Harris N.L., Brunning R.D. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 2002;100(7):2292-302. DOI: 10.n82/bk>od-2002-04-1199
- Vardiman J.W., Thiele J., Arber D.A. et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009;114(5):937—51. doi: 10.1182/blood-2009-03-209262
- Van den Berghe H., Cassiman J.J., David G. et al. Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature 1974;251(5474):437—8. doi: 10.1038/251437a0
- Sokal G., Michaux J.L., Van Den Berghe H. et al. A new hematologic syndrome with a distinct karyotype: the 5q-chromosome. Blood 1975;46(4):519—33.
- Nowell P.C. The minute chromosome (Phl) in chronic granulocytic leukemia. Blut 1962;8:65-6. doi: 10.1007/BF01630378
- Rowley J.D. Letter: a new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 1973;243(5405):290—3. doi: 10.1038/243290a0
- Kantarjian H., O’Brien S., Ravandi F. et al. The heterogeneous prognosis of patients with myelodysplastic syndrome and chromosome 5 abnormalities: how does it relate to the original lenalidomide experience in MDS? Cancer 2009;115(22):5202—9. doi: 10.1002/cncr.24575
- Nimer S.D., Golde D.W. The 5q— abnormality. Blood 1987;70(6):1705—12.
- Khoury J.D., Solary E., Abla O. et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia 2022;36(7):1703—19. doi: 10.1038/s41375-022-01613-1
- Boultwood J., Lewis S., Wainscoat J.S. The 5q— syndrome. Blood 1994;84(10):3253—60. doi: 10.1182/blood.V84.10.3253.3253
- Pellagatti A., Boultwood J. Recent advances in the 5q— syndrome. Mediterr J Hematol Infect Dis 2015;7(1):e2015037. doi: 10.4084/MJHID.2015.037
- Boultwood J., Fidler C., Strickson A.J. et al. Narrowing and genomic annotation of the commonly deleted region of the 5q— syndrome. Blood 2002;99(12):4638—41. doi: 10.1182/blood.v99.12.4638
- Giagounidis A.A., Germing U., Aul C. Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies. Clin Cancer Res 2006;12(1):5—10. doi: 10.1158/1078-0432.CCR-05-1437
- Schanz J., Tuchler H., Sole F. et al. New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myciod leukemia after MDS derived from an international database merge. J Clin Oncol 2012;30(8):820—9. doi: 10.1200/JCO.2011.35.6394
- Bernasconi P., Klersy C., Boni M. et al. Incidence and prognostic significance of karyotype abnormalities in de novo primary myelodysplastic syndromes: a study on 331 patients from a single institution. Leukemia 2005;19(8):1424—31. doi: 10.1038/sj.leu.2403806
- Chari P.S., Chander S., Sundareshan T.S., Prasad S. 5q deletion myelodysplastic syndrome. Indian J Pathol Microbiol 2017;60(2):301 —3. doi: 10.4103/0377-4929.208396
- Giagounidis A.A., Germing U., Haase S. et al. Clinical, morphological, cytogenetic, and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31. Leukemia 2004;18(1):113—9. doi: 10.1038/sj.leu.2403189
- Chen D., Hoyer J.D., Ketterling R.P. et al. Dysgranulopoiesis is an independent adverse prognostic factor in chronic myeloid disorders with an isolated interstitial deletion of chromosome 5q. Leukemia 2009;23(4):796—800. doi: 10.1038/leu.2008.279
- Holtan S.G., Santana-Davila R., Dewald G.W. et al. Myelodysplastic syndromes associated with interstitial deletion of chromosome 5q: clinicopathologic correlations and new insights from the pre-lenalidomide era. Am J Hematol 2008;83(9):708—13. doi: 10.1002/ajh.21245
- Washington L.T., Doherty D., Glassman A. et al. Myeloid disorders with deletion of 5q as the sole karyotypic abnormality: the clinical and pathologic spectrum. Leuk Lymphoma 2002;43(4):761—5. doi: 10.1080/10428190290016863
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