Identification of concurrent STAT3::RARA and RARA::STAT5b fusions in a variant APL case.

Acute promyelocytic leukemia (APL) with typically PML::RARA fusion gene caused by t (15;17) (q22; q12) was distinguished from other types of acute myeloid leukemia. In a subset of patients with APL, t (15;17) (q22;q21) and PML::RARA fusion cannot be detected. In this report, we identified the coexistence of STAT3::RARA and RARA::STAT5b fusions for the first time in a variant APL patient lacking t (15;17)(q22;q21)/PML::RARA fusion. Then, this patient was resistant to all-trans retinoic acid combined arsenic trioxide chemotherapy. Accurate detection of RARA gene partners is crucial for variant APL, and effective therapeutic regime is urgently needed.

Molecular characteristics in Chinese with chronic lymphocytic leukemia by next-generation sequencing: A single-center retrospective analysis.

INTRODUCTION: Although the prevalence of Asian chronic lymphocytic leukemia (CLL) patients is not as high as that of Caucasians, there are more atypical CLLs in Asia whose genetic characteristics and their clinical significance are distinct and remain unclear. METHODS: A retrospective analysis of 85 CLL samples in our center was conducted from 2019 to 2022. We used next-generation sequencing with a 172 gene panel to explore the multi-gene mutational data and the mutational status of immunoglobulin heavy variable (IGHV) gene. RESULTS: MYD88 (20.0%) was the most frequently mutated gene, much higher than in Europe, followed in order by TP53 (18.8%), NOTCH1 (14.1%), IGLL5 (11.8%), and DNMT3A (8.2%). In addition, the incidence of ATM and SF3B1 mutations was relatively lower in our centre compared to Europe. Mutated (M)-IGHV patients were more likely to have a cooccurrence of MYD88 mutation, while complex karyotype and DNMT3A mutation were more common in the unmutated (U)-IGHV group. MYD88 mutated CLL was characterized by prevalence in young males in high-risk staging, with isolated 13q deletion and concomitant mutation of IGLL5. CLL patients with MYD88 and TP53 mutation showed an unfavorable prognosis. CONCLUSION: These results would be valuable in helping to understand the characteristics and significance of cytogenetic genetics in Chinese patients with CLL.

Expression of B7-H6 in chronic myeloid leukemia and its clinical significance.

OBJECTIVE: To examine the expression level of B7-H6 in chronic myeloid leukemia (CML) patients and to explore its clinical significance. METHODS: Two hundred twenty-eight CML patients were included and peripheral blood (PB) and bone marrow (BM) mononuclear cells were collected for B7-H6 mRNA expression analyses by quantitative real time polymerase chain reaction (PCR). RESULTS: The expression of B7-H6 mRNA was successfully detected in all PB and BM samples. According to the clinical characteristics of CML patients, no difference was found in the B7-H6 level of PBMCs. However, a significantly decreased B7-H6 level was noted in BM samples from CML with BCR-ABL1/ABL > 0.1% (10 copies of BCR-ABL1/10000 copies of ABL) compared to ≤ 0.1% (P < 0.0001), and a negative correlation was found between the expression level of B7-H6 in BM and the number of BCR-ABL1/ABL transcripts (r = -0.26, P = 0.0057). A significant difference in PFS was observed between patients with high expression level of B7-H6 and low expression level in BM (χ2 = 12.53, P = 0.0004). CONCLUSION: The expression of the B7-H6 gene in CML is correlated with BCR-ABL1 copy number and responsiveness to treatment, and monitoring of B7-H6 expression may be used to predict CML prognosis, progression, and treatment efficacy evaluation.