Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features.

OBJECTIVES

Since the publication of the third edition, the WHO classification of tumors of hematopoietic and lymphoid disorders has introduced the disease entity of 'myeloid/lymphoid neoplasms with eosinophilia and rearrangement', in which the most common chromosomal abnormality is t(5;12) (q32;p13.2), and this abnormality generates the fusion gene. However, there have been patients with hematologic features and chromosomal abnormalities that are extremely similar to those carrying fusion. These rare disorders harbor fusion, and only sporadic cases have been reported at present.

METHODS

We report a patient with chronic eosinophilic leukemia (CEL) carrying chromosome translocation t(5;12)(q32;p13.2), and we present the clinical features. In addition, we conducted a literature review to collect all reported cases and summarized the genetic and clinical profiling as well as the treatments and outcomes.

RESULT

In addition to our patient, a total of 19 cases have been previously reported, including 6 variants of and 3 reciprocals. We identified a novel variant of the transcript in our patient, and the breakpoint was flanked by exon 2 of and exon 2 of . The cellular morphology features consisted of myeloproliferative neoplasm (MPN); myelodysplastic/myeloproliferative neoplasm (MDS/MPN), specifically CEL; and acute myelocytic leukemia (AML). The treatments and outcomes varied greatly depending on the type of disease, although tyrosine kinase inhibitors (TKIs) were not effective.

CONCLUSION

In contrast to neoplasms with fusion, myeloid neoplasms with fusion have unique characteristics.