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EnglishEssentials Extramedullary hematopoiesis (EMH) represents a pathologic finding in adult life. We report a mass-like EMH in the presacral space in a patient with ANKRD26-related thrombocytopenia. We found possible correlation between EMH and conditions causing lifelong thrombocytopenia. EMH can cause masses of unknown origin in patients with inherited thrombocytopenias. Summary: Most commonly located in the liver and spleen, extramedullary hematopoiesis (EMH) is the presence of hematopoietic tissue outside the bone marrow. MYH9-related thrombocytopenia (MYH9-RD) and ANKRD26-related thrombocytopenia (ANKRD26-RT) are two of the most frequent forms of inherited thrombocytopenia (IT). Until recently, EMH has been associated with neoplastic and non-neoplastic hematologic conditions in which ITs were not included. We describe a case of mass-like EMH in the presacral space in a patient affected with ANKRD26-RT, comparing it with another case of paravertebral EMH we recently described in a subject with MYH9-RD. The surprisingly similitude of such a finding in the context of a group of rare disorders induces us to speculate about the possible pathogenic relationship between EMH and conditions causing lifelong thrombocytopenia, particularly the entity of ITs. Finally, we suggest that EMH has to be taken into consideration in the diagnostic work-up of masses of unknown origin in subjects affected with ITs.
Extramedullary hematopoiesis : a new feature of inherited thrombocytopenias? / C. Zaninetti, F. Melazzini, G.A. Croci, E. Boveri, C.L. Balduini. - In: JOURNAL OF THROMBOSIS AND HAEMOSTASIS. - ISSN 1538-7933. - 15:11(2017), pp. 2226-2229.
| Titolo: | Extramedullary hematopoiesis : a new feature of inherited thrombocytopenias? | |
| Autori: | ||
| Parole Chiave: | blood cells; blood platelets; bone marrow; extramedullary hematopoiesis; thrombocytopenia; Aged; Biopsy, Needle; Bone Marrow Examination; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Hematopoiesis, Extramedullary; Heredity; Humans; Immunohistochemistry; Nuclear Proteins; Pelvis; Phenotype; Positron Emission Tomography Computed Tomography; Spleen; Thrombocytopenia; Mutation | |
| Settore Scientifico Disciplinare: | Settore MED/08 - Anatomia Patologica | |
| Data di pubblicazione: | 2017 | |
| Rivista: | ||
| Tipologia: | Article (author) | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1111/jth.13850 | |
| Appare nelle tipologie: | 01 - Articolo su periodico |
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