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A systematic review synthesized published adult case reports and series. Searches in PubMed and Google Scholar covered inception to 31 December 2024, following PRISMA 2020. Twenty publications described 24 patients, with frequent macrocytic anemia, thrombocytosis, and megakaryocytic dysplasia. Lenalidomide induced hematologic and cytogenetic responses in evaluable patients, yet molecular persistence and progression to AML occurred.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":40,"@type":76,"position":81},"https://docshare.wps.com/document/research-report/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/isolated-del5q-with-myeloproliferative-driver-mutations-a-systematic-review-of-published-cases-and-clinical-implications/350678/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/isolated-del5q-with-myeloproliferative-driver-mutations-a-systematic-review-of-published-cases-and-clinical-implications/350678.png","ImageObject",300,407,{"name":92,"@type":93},"PakDamar76","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-09-26","2026-09-22",true,{"@type":102,"interactionType":103,"userInteractionCount":14},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What clinical overlap does del(5q) with MPN driver mutations represent?","Question",{"text":112,"@type":113},"It represents a rare presentation with features overlapping myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN), often described as a diagnostic “grey zone.”","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How was the systematic review conducted?",{"text":117,"@type":113},"Published case reports and case series of adults with isolated del(5q) and at least one MPN driver mutation were identified through searches of PubMed and Google Scholar from inception through 31 December 2024, with eligibility requiring extractable clinical, cytogenetic, and/or molecular data.",{"name":119,"@type":110,"acceptedAnswer":120},"What were the main outcomes associated with lenalidomide?",{"text":121,"@type":113},"Lenalidomide produced hematologic responses in most evaluable patients and cytogenetic responses in a substantial subset, but molecular persistence was common and some patients progressed to acute myeloid leukemia during follow-up.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},350678,1790452022,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":39,"category_name":40,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":14,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":139,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145},962090893057,"https://ap-avatar.wpscdn.com/davatar_155a257f0dc6eb9ab79c44ca47cae57d","Isolated del(5q) with myeloproliferative driver mutations: A systematic review of published cases and clinical implications  \nTher Adv Hematol Volume 17: 1–11 © The Author(s) 2026 Article reuse guidelines:  \n[sagepub.com/journals-permissions](sagepub.com/journals-permissions)  \n[DOI: 10.1177/20406207261474937](DOI: 10.1177/20406207261474937)  \n[journals.sagepub.com/home/tah](journals.sagepub.com/home/tah)  \nMohammed Abdulgayoom1 , Abdulrahman F. Al-Mashdali1 , Awni Alshurafa1 , Mohammad S. Afana1, Anas M. Babiker1, Mohammad Bakheet2, Shehab F. Mohamed1, and Mohamed A. Yassin1   \nAbstract  \nBackground: Myeloid neoplasms harboring both an isolated deletion of chromosome 5q (del(5q)) and myeloproliferative neoplasm (MPN) driver mutations (JAK2, CALR, MPL) constitute a rare and diagnostically challenging subset, often described with features overlapping those of myelodysplastic syndromes (MDS) and MPN. Methods: We systematically reviewed published case reports and case series of adult patients with myeloid neoplasms and concomitant isolated del(5q) and MPN driver mutations. A comprehensive search of PubMed and Google Scholar from inception through 31 December 2024 was performed using terms related to “del(5q)”, “JAK2”, “CALR”,“MPL”, and “myeloid neoplasm”. Eligible reports required documentation of isolated del(5q) and at least one MPN driver mutation with extractable clinical, cytogenetic, and/or molecular data. Data were synthesised descriptively; no quantitative meta-analysis was feasible. The review followed PRISMA 2020 guidelines and was registered post-study at INPLASY2025120046 . Results: Twenty publications reporting 24 patients (diagnosed between 2006 and 2021) met the inclusion criteria. The median age was 70.5 years with a female predominance. Most patients presented with macrocytic anemia, thrombocytosis, and megakaryocytic dysplasia, frequently accompanied by marrow fibrosis. JAK2 V617Fwas the predominant mutation, whereas CALR and MPL were rarely described. Lenalidomide achieved hematologic responsesin 14 of 17 evaluable patients and cytogenetic responsesin 8 of 16;JAK2 V617F clearance occurred in 4 of 13. During a median follow-up of approximately two years, 5 of 24 patients progressed to acute myeloid leukemia. Conclusion: Reported cases with isolated del(5q) and an MPN driver mutation suggest a rare overlap presentation with mixed dysplastic and proliferative features. Lenalidomide appears to provide hematologic and cytogenetic benefit in some patients, although molecular persistence and progression to AML have been observed. Given the limited number and heterogeneity of published cases, these observations should be interpreted with caution. Larger, systematically collected datasets are needed to better understand the clinical significance and optimal management of this combination.  \nPlain language summary  \nChromosome 5q deletion [del(5q)] is a well-recognized abnormality in some bone marrow cancers called myelodysplastic syndromes (MDS). Patients with isolated del(5q) usually have anemia and respond well to the drug lenalidomide. In contrast, another group of blood cancers, called myeloproliferative neoplasms (MPN), are driven by specific mutations such as JAK2, CALR, or MPL, and often present with high platelet counts or bone marrow scarring. Although these two disease groups are usually separate, a small number of patients carry both an isolated del(5q) and an MPN-associated mutation. This unusual  \n1Department of Hematology, Hamad Medical Corporation, National Center for Cancer Care and Research, Doha, Qatar 2College of Medicine, Omdurman Islamic University, Khartoum, Sudan  \nCorresponding author:  \nMohammed Abdulgayoom, Department of Hematology, Hamad Medical Corporation, Al-Rayyan Road, P.O. Box 3050, Doha, Qatar. [Email:](Email: mmohammed35@hamad.qa)[ mmohammed35@hamad.qa](Email: mmohammed35@hamad.qa)  \nCreative Commons CC BY: This article is distributed under the terms of the Creative Commons Attribution","cbCaidMDM9rriL9X","https://ap.wps.com/l/cbCaidMDM9rriL9X","pdf",1524867,11,"English","# Abstract\n## Background\n## Methods\n## Results\n## Conclusion\n# Plain language summary\n# Keywords\n# Article highlights","[{\"question\":\"What clinical overlap does del(5q) with MPN driver mutations represent?\",\"answer\":\"It represents a rare presentation with features overlapping myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN), often described as a diagnostic “grey zone.”\"},{\"question\":\"How was the systematic review conducted?\",\"answer\":\"Published case reports and case series of adults with isolated del(5q) and at least one MPN driver mutation were identified through searches of PubMed and Google Scholar from inception through 31 December 2024, with eligibility requiring extractable clinical, cytogenetic, and/or molecular data.\"},{\"question\":\"What were the main outcomes associated with lenalidomide?\",\"answer\":\"Lenalidomide produced hematologic responses in most evaluable patients and cytogenetic responses in a substantial subset, but molecular persistence was common and some patients progressed to acute myeloid leukemia during follow-up.\"}]","Isolated del(5q) with myeloproliferative driver mutations - A systematic review of published cases and clinical implications | PDF",1790090574,28]