IETV6::ABL1/I-Positive Myeloid Neoplasm: A Case of a Durable Response to Imatinib Mesylate without Additional or Previous Treatment

• Published in: International journal of molecular sciences Vol. 25; no. 1
• Main Authors: 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, Ma, Simonetti, Giorgia, Rosti, Gianantonio
• Format: Journal Article
• Language: English
• Published: MDPI AG 01-12-2023
• Subjects: Cancer; Cytogenetics; Genes; Genetic aspects; Genetic transcription; Health aspects; Nilotinib; Pharmaceutical industry; Tumors; Tyrosine; United States
• ISSN: 1422-0067
• DOI: 10.3390/ijms25010118

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.