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Bochicchio, Maria Teresa; Marconi, Giovanni; Baldazzi, Carmen; Bandini, Lorenza; Ruggieri, Francesca; Lucchesi, Alessandro; Agostinelli, Claudio; Sabattini, Elena; Orsatti, Agnese; Ferrari, Anna; Capirossi, Giorgia; Servili, Chiara; Ghelli Luserna di Rorà, Andrea; Martinelli, Giovanni; Simonetti, Giorgia; Rosti, Gianantonio
International journal of molecular sciences, 01/2024, Letnik: 25, Številka: 1Journal Article
rearranged neoplasms are rare hematological diseases. To date, about 80 cases have been reported, including myeloid and lymphoid leukemias. The gene codes for an ETS family transcription factor and several fusion partners have been described. When translocated, causes the constitutive activation of the partner genes. Here, we report the case of a 54-year-old woman with a cryptic insertion of the 3' region of in the gene. The patient was first diagnosed with idiopathic hypereosinophilic syndrome, according to the clinical history, conventional cytogenetics, standard molecular analyses and pathologist description. Next generation sequencing of diagnosis samples unexpectedly detected both type A and B fusion transcripts, which were then confirmed by FISH. The diagnosis was Myeloid/Lymphoid neoplasm with fusion, and the patient received imatinib mesylate treatment. In a follow-up after more than one year, the patient still maintained the molecular and complete hematological responses. This case highlights the importance of timely and proper diagnostics and prompt tyrosine kinase inhibitor treatment.
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Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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