Myelodysplastic syndrome (MDS)/Myeloproliferative neoplasm (MPN) with loss of long arm of chromosome 5 (del 5q): Clinical case and treatment perspectives.

Kateryna Khurdepa; Oksana Karnabeda

doi:10.32345/USMYJ.3(149).2024.75-80

Kateryna Khurdepa National Research Center for Radiation Medicine, Oncology and Hematology of the National Academy of Medical Sciences of Ukraine, Kyiv, Ukraine https://orcid.org/0009-0002-0703-8602
Oksana Karnabeda Bogomolets National Medical University, Kyiv, Ukraine https://orcid.org/0000-0002-4696-0301

DOI: https://doi.org/10.32345/USMYJ.3(149).2024.75-80

Keywords: Chronic Myeloproliferative Neoplasm; Myelofibrosis; Myelodysplastic Syndromes; Del 5q; Lenalidomide.

Abstract

this clinical case report presents a patient diagnosed with a myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN), specifically myelofibrosis with a deletion of the long arm of chromosome 5 (del 5q), an exceedingly rare anomaly in chronic myeloproliferative disorders. We performed a thorough analysis of the patient’s clinical, laboratory, and molecular-genetic characteristics to evaluate their impact on prognosis, treatment decisions, and therapeutic outcomes. After excluding other genetic abnormalities, the patient was treated with lenalidomide and prednisolone, resulting in improved clinical and hematological parameters. These findings are consistent with previous studies and suggest the potential efficacy of lenalidomide in treating patients with MDS/MPN characterized by del 5q, especially when no additional genetic abnormalities are present.

References

Francisco Cervantes; How I treat myelofibrosis. Blood 2014; 124 (17): 2635–2642. https://doi.org/10.1182/blood-2014-07-575373

Gerds, A. T., Gotlib, J., Ali, H., Bose, P., Dunbar, A., Elshoury, A., George, T. I., Gundabolu, K., Hexner, E., Hobbs, G. S., Jain, T., Jamieson, C., Kaesberg, P. R., Kuykendall, A. T., Madanat, Y., McMahon, B., Mohan, S. R., Nadiminti, K. V., Oh, S., Pardanani, A., … Hochstetler, C. (2022). Myeloproliferative Neoplasms, Version 3.2022, NCCN Clinical Practice Guidelines in Oncology. Journal of the National Comprehensive Cancer Network: JNCCN, 20(9), 1033–1062. https://doi.org/10.6004/jnccn.2022.0046

Giagounidis, A., Mufti, G. J., Fenaux, P., Germing, U., List, A., & MacBeth, K. J. (2014). Lenalidomide as a disease-modifying agent in patients with del(5q) myelodysplastic syndromes: linking mechanism of action to clinical outcomes. Annals of hematology, 93(1), 1–11. https://doi.org/10.1007/s00277-013-1863-5

Khoury, J. D., Solary, E., Abla, O., Akkari, Y., Alaggio, R., Apperley, J. F., Bejar, R., Berti, E., Busque, L., Chan, J. K. C., Chen, W., Chen, X., Chng, W. J., Choi, J. K., Colmenero, I., Coupland, S. E., Cross, N. C. P., De Jong, D., Elghetany, M. T., Takahashi, E., … Hochhaus, A. (2022). The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia, 36(7), 1703–1719. https://doi.org/10.1038/s41375-022-01613-1

Meggendorfer, M., Jeromin, S., Haferlach, C., Kern, W., & Haferlach, T. (2018). The mutational landscape of 18 investigated genes clearly separates four subtypes of myelodysplastic/myeloproliferative neoplasms. Haematologica, 103(5), e192–e195. https://doi.org/10.3324/haematol.2017.183160

Moyo, T. K., Mendler, J. H., Itzykson, R., Kishtagari, A., Solary, E., Seegmiller, A. C., Gerds, A. T., Ayers, G. D., Dezern, A. E., Nazha, A., Valent, P., van de Loosdrecht, A. A., Onida, F., Pleyer, L., Cirici, B. X., Tibes, R., Geissler, K., Komrokji, R. S., Zhang, J., Germing, U., … MDS/MPN International Working Group (2022). The ABNL-MARRO 001 study: a phase 1-2 study of randomly allocated active myeloid target compound combinations in MDS/MPN overlap syndromes. BMC cancer, 22(1), 1013. https://doi.org/10.1186/s12885-022-10073-w

Patnaik, M. M., & Tefferi, A. (2023). Atypical chronic myeloid leukemia and myelodysplastic/myeloproliferative neoplasm, not otherwise specified: 2023 update on diagnosis, risk stratification, and management. American journal of hematology, 98(4), 681–689. https://doi.org/10.1002/ajh.26828

Takahashi, K., Cortes, J., Pierce, S., Abruzzo, L., Kantarjian, H., & Verstovsek, S. (2013). Chromosome 5q deletion is extremely rare in patients with myelofibrosis. Leukemia research, 37(5), 552–555. https://doi.org/10.1016/j.leukres.2013.01.003

Tefferi A. Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management. American journal of hematology, 96(1), 145–162. https://doi.org/10.1002/ajh.26050

Vannucchi, A. M., Barbui, T., Cervantes, F., Harrison, C., Kiladjian, J. J., Kröger, N., Thiele, J., Buske, C., & ESMO Guidelines Committee (2015). Philadelphia chromosome-negative chronic myeloproliferative neoplasms: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Annals of oncology: official journal of the European Society for Medical Oncology, 26 Suppl 5, v85–v99. https://doi.org/10.1093/annonc/mdv203