Rare Non-Cryptic Rearrangements Associated With Myeloid Neoplasms and Their Poor Prognostic Impact.

Background: rearrangements (r), associated with various hematologic malignancies, involve more than 30 partner genes. Despite their clinical significance, reports on the clinicopathological characteristics of rare r remain limited. We investigated the characteristics of patients with myeloid neoplasms harboring r among those identified as having 11p15 translocation in chromosomal analysis.

Methods: We retrospectively reviewed results from bone marrow chromosomal analyses conducted between 2011 and 2023 and identified 15 patients with 11p15 translocation. Subsequently, r were evaluated using FISH and/or reverse transcription PCR, and clinical and laboratory data of the patients were analyzed.

Results: r were identified in 11 patients initially diagnosed as having AML (N=8), myelodysplastic syndrome (N=2), or chronic myelomonocytic leukemia (N=1), with a median age of 44 yrs (range, 4-77 yrs). Three patients had a history of chemotherapy. In total, five fusions were identified: (N=3), (N=2), (N=2), (N=1), and (N=1). Patients with r exhibited a poor prognosis, with a median overall survival of 12.0 months (95% confidence interval [CI], 3.4-29.6 months) and a 5-yr overall survival rate of 18.2% (95% CI, 5.2%-63.7%).

Conclusions: Our study revealed the clinical and genetic characteristics of patients with myeloid neoplasms harboring rare and non-cryptic r. Given its association with poor prognosis, a comprehensive evaluation is crucial for identifying previously underdiagnosed r in patients with myeloid neoplasms.