Essential thrombocythemia as an initial presentation of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome with complete response to the bortezomib, cyclophosphamide, dexamethasone regimen: a case report
Abstract Background Polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome is a rare paraneoplastic disorder often presenting with atypical manifestations, making diagnosis challenging. This case is novel due to the rare presentation of essential thrombocythemia as the initia...
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2025-07-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-025-05338-4 |
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| author | Alireza Zangooie Zahra Moradi Reza Asgari Amirhosein Maharati Zahra Salehi Abolghasem Allahyari |
| author_facet | Alireza Zangooie Zahra Moradi Reza Asgari Amirhosein Maharati Zahra Salehi Abolghasem Allahyari |
| author_sort | Alireza Zangooie |
| collection | DOAJ |
| description | Abstract Background Polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome is a rare paraneoplastic disorder often presenting with atypical manifestations, making diagnosis challenging. This case is novel due to the rare presentation of essential thrombocythemia as the initial manifestation of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome. Furthermore, it highlights the remarkable therapeutic response, achieving a complete remission following treatment with the bortezomib, cyclophosphamide, dexamethasone regimen, underscoring this combination therapy’s efficacy in managing such complex cases. Case presentation A 65-year-old Iranian woman presented with fatigue, headache, and thrombocytosis, leading to a diagnosis of essential thrombocythemia. Over time, her condition progressed with the development of neuropathy and persistence of thrombocytosis, which warranted further investigation. Imaging revealed multiple lymphadenopathies, sclerotic bone lesions, and ascitic fluid, raising suspicion for a plasma cell dyscrasia. Bone marrow biopsy, lymph node biopsy, and elevated vascular endothelial growth factor levels confirmed the diagnosis of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome. The patient was treated with bortezomib, cyclophosphamide, dexamethasone chemotherapy regimen, resulting in complete symptom relief, normalization of the complete blood count, and significant improvement in imaging findings. Conclusion This case highlights the need to recognize atypical polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome presentations, such as essential thrombocythemia, for timely diagnosis and underscores the bortezomib, cyclophosphamide, dexamethasone regimen’s efficacy in achieving complete remission. |
| format | Article |
| id | doaj-art-b4af91d3ff9e43a8acb191ff6e8f3713 |
| institution | DOAJ |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-b4af91d3ff9e43a8acb191ff6e8f37132025-08-20T03:03:25ZengBMCJournal of Medical Case Reports1752-19472025-07-011911610.1186/s13256-025-05338-4Essential thrombocythemia as an initial presentation of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome with complete response to the bortezomib, cyclophosphamide, dexamethasone regimen: a case reportAlireza Zangooie0Zahra Moradi1Reza Asgari2Amirhosein Maharati3Zahra Salehi4Abolghasem Allahyari5Student Research Committee, Birjand University of Medical SciencesSchool of Medicine, Tehran University of Medical SciencesStudent Research Committee, Qazvin University of Medical SciencesStudent Research Committee, Faculty of Medicine, Mashhad University of Medical SciencesHematology, Oncology and Stem Cell Transplantation Research Center, Research Institute for Oncology, Hematology and Cell Therapy, Tehran University of Medical SciencesDivision of Hematology and Oncology, Department of Internal Medicine, Faculty of Medicine, Mashhad University of Medical SciencesAbstract Background Polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome is a rare paraneoplastic disorder often presenting with atypical manifestations, making diagnosis challenging. This case is novel due to the rare presentation of essential thrombocythemia as the initial manifestation of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome. Furthermore, it highlights the remarkable therapeutic response, achieving a complete remission following treatment with the bortezomib, cyclophosphamide, dexamethasone regimen, underscoring this combination therapy’s efficacy in managing such complex cases. Case presentation A 65-year-old Iranian woman presented with fatigue, headache, and thrombocytosis, leading to a diagnosis of essential thrombocythemia. Over time, her condition progressed with the development of neuropathy and persistence of thrombocytosis, which warranted further investigation. Imaging revealed multiple lymphadenopathies, sclerotic bone lesions, and ascitic fluid, raising suspicion for a plasma cell dyscrasia. Bone marrow biopsy, lymph node biopsy, and elevated vascular endothelial growth factor levels confirmed the diagnosis of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome. The patient was treated with bortezomib, cyclophosphamide, dexamethasone chemotherapy regimen, resulting in complete symptom relief, normalization of the complete blood count, and significant improvement in imaging findings. Conclusion This case highlights the need to recognize atypical polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome presentations, such as essential thrombocythemia, for timely diagnosis and underscores the bortezomib, cyclophosphamide, dexamethasone regimen’s efficacy in achieving complete remission.https://doi.org/10.1186/s13256-025-05338-4POEMS syndromeEssential thrombocythemiaInitial presentationComplete responseVCD regimenCase report |
| spellingShingle | Alireza Zangooie Zahra Moradi Reza Asgari Amirhosein Maharati Zahra Salehi Abolghasem Allahyari Essential thrombocythemia as an initial presentation of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome with complete response to the bortezomib, cyclophosphamide, dexamethasone regimen: a case report Journal of Medical Case Reports POEMS syndrome Essential thrombocythemia Initial presentation Complete response VCD regimen Case report |
| title | Essential thrombocythemia as an initial presentation of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome with complete response to the bortezomib, cyclophosphamide, dexamethasone regimen: a case report |
| title_full | Essential thrombocythemia as an initial presentation of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome with complete response to the bortezomib, cyclophosphamide, dexamethasone regimen: a case report |
| title_fullStr | Essential thrombocythemia as an initial presentation of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome with complete response to the bortezomib, cyclophosphamide, dexamethasone regimen: a case report |
| title_full_unstemmed | Essential thrombocythemia as an initial presentation of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome with complete response to the bortezomib, cyclophosphamide, dexamethasone regimen: a case report |
| title_short | Essential thrombocythemia as an initial presentation of polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome with complete response to the bortezomib, cyclophosphamide, dexamethasone regimen: a case report |
| title_sort | essential thrombocythemia as an initial presentation of polyneuropathy organomegaly endocrinopathy m protein skin changes syndrome with complete response to the bortezomib cyclophosphamide dexamethasone regimen a case report |
| topic | POEMS syndrome Essential thrombocythemia Initial presentation Complete response VCD regimen Case report |
| url | https://doi.org/10.1186/s13256-025-05338-4 |
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