MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER
We report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented personal history of bleeding and/or platelet...
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2024-08-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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| Online Access: | https://www.mjhid.org/mjhid/article/view/5767 |
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| author | Paola Ranalli Stefano Baldoni Daniela Bruno Mauro Di Ianni |
| author_facet | Paola Ranalli Stefano Baldoni Daniela Bruno Mauro Di Ianni |
| author_sort | Paola Ranalli |
| collection | DOAJ |
| description |
We report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented personal history of bleeding and/or platelet disorder, considering all the possible differential diagnosis: 1) Bleeding as the epiphenomenon of a still undiagnosed Myeloid Neoplasm or 2) Myeloid Neoplasm with germline predisposition and pre-existing platelet disorder; 3) Inherited platelet disorder successively developing MPN/MDS Overlap Syndrome.
This case report underlines the importance of genetic testing in case of patient with documented platelet function disorder, including both mutations associated with inherited platelet disorders and germline mutations more strictly predisposing to Myeloid Neoplasms.
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| format | Article |
| id | doaj-art-93e2c68b9cc24ebbbdea52eb46ca7b32 |
| institution | Kabale University |
| issn | 2035-3006 |
| language | English |
| publishDate | 2024-08-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-93e2c68b9cc24ebbbdea52eb46ca7b322025-02-03T11:44:24ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062024-08-0116110.4084/MJHID.2024.067MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDERPaola Ranalli0Stefano Baldoni1Daniela Bruno2Mauro Di Ianni31Hematology Unit, Pescara Hospital, 65124 Pescara, Italy 2Department of Medicine and Aging Sciences, University of Chieti-Pescara, 66100 Chieti, Italy1Hematology Unit, Pescara Hospital, 65124 Pescara, ItalyHematology Unit, Pescara Hospital, 65124 Pescara, Italy1Hematology Unit, Pescara Hospital, 65124 Pescara, Italy 2Department of Medicine and Aging Sciences, University of Chieti-Pescara, 66100 Chieti, Italy We report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented personal history of bleeding and/or platelet disorder, considering all the possible differential diagnosis: 1) Bleeding as the epiphenomenon of a still undiagnosed Myeloid Neoplasm or 2) Myeloid Neoplasm with germline predisposition and pre-existing platelet disorder; 3) Inherited platelet disorder successively developing MPN/MDS Overlap Syndrome. This case report underlines the importance of genetic testing in case of patient with documented platelet function disorder, including both mutations associated with inherited platelet disorders and germline mutations more strictly predisposing to Myeloid Neoplasms. https://www.mjhid.org/mjhid/article/view/5767Myeloid Neoplasms; Germline mutationsBleeding disorders |
| spellingShingle | Paola Ranalli Stefano Baldoni Daniela Bruno Mauro Di Ianni MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER Mediterranean Journal of Hematology and Infectious Diseases Myeloid Neoplasms; Germline mutations Bleeding disorders |
| title | MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER |
| title_full | MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER |
| title_fullStr | MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER |
| title_full_unstemmed | MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER |
| title_short | MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER |
| title_sort | mpn mds overlap syndrome anticipated by a severe bleeding diathesis hypothesis of a pre existing platelet disorder |
| topic | Myeloid Neoplasms; Germline mutations Bleeding disorders |
| url | https://www.mjhid.org/mjhid/article/view/5767 |
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