AI Article Synopsis

  • Rearranged neoplasms are rare blood cancers, with about 80 cases, involving myeloid and lymphoid leukemias, linked to gene translocations that activate partner genes.
  • A case of a 54-year-old woman revealed a rare cryptic insertion of the gene associated with such neoplasms, initially diagnosed as idiopathic hypereosinophilic syndrome.
  • Advanced sequencing techniques led to the identification of specific fusion transcripts, confirming the diagnosis and prompting effective treatment with imatinib mesylate, resulting in lasting positive outcomes after over a year.

Article Abstract

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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10779409PMC
http://dx.doi.org/10.3390/ijms25010118DOI Listing

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