학술논문
ETV6::ABL1 -Positive Myeloid Neoplasm: A Case of a Durable Response to Imatinib Mesylate without Additional or Previous Treatment.
Document Type
Report
Author
Bochicchio MT; Biosciences Laboratory, IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, FC, Italy.; Marconi G; Hematology Unit, IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, FC, Italy.; Baldazzi C; Istituto di Ematologia 'Seràgnoli', IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, BO, Italy.; Bandini L; Istituto di Ematologia 'Seràgnoli', IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, BO, Italy.; Ruggieri F; Biosciences Laboratory, IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, FC, Italy.; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40100 Bologna, BO, Italy.; Lucchesi A; Hematology Unit, IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, FC, Italy.; Agostinelli C; Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40100 Bologna, BO, Italy.; Haematopathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, BO, Italy.; Sabattini E; Haematopathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, BO, Italy.; Orsatti A; Haematopathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, BO, Italy.; Ferrari A; Biosciences Laboratory, IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, FC, Italy.; Capirossi G; Biosciences Laboratory, IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, FC, Italy.; Servili C; Biosciences Laboratory, IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, FC, Italy.; Ghelli Luserna di Rorà A; Fondazione Pisana per la Scienza ONLUS, 56017 San Giuliano Terme, PI, Italy.; Martinelli G; Scientific Directorate, IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, FC, Italy.; Simonetti G; Biosciences Laboratory, IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, FC, Italy.; Rosti G; Hematology Unit, IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) 'Dino Amadori', 47014 Meldola, FC, Italy.
Source
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Subject
Language
English
Abstract
ETV6::ABL1 rearranged neoplasms are rare hematological diseases. To date, about 80 cases have been reported, including myeloid and lymphoid leukemias. The ETV6 gene codes for an ETS family transcription factor and several fusion partners have been described. When translocated, ETV6 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 ABL1 in the ETV6 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 ETV6::ABL1 type A and B fusion transcripts, which were then confirmed by FISH. The diagnosis was Myeloid/Lymphoid neoplasm with ETV6::ABL1 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.