Raw lacquer-associated familial chronic myelomonocytic leukemia with multi-hit TET2 mutations.

BACKGROUND

To explore the potential association between long-term exposure to raw lacquer and the development of chronic myelomonocytic leukemia (CMML).

METHODS

We analyzed the clinical and hematological characteristics of an elderly couple with CMML. Whole-exome sequencing (WES) was performed to identify relevant gene variants, with a focus on TET2 mutation status.

RESULTS

Two unrelated CMML patients within the same family, both with over 40 years of raw lacquer exposure, developed CMML. WES revealed that both patients harbored multi-hit TET2 gene mutations and lacked ASXL1 mutations. Both demonstrated relative sensitivity to hydroxyurea or hypomethylating agent (HMA) therapy. Unaffected family members lacked significant raw lacquer exposure.

CONCLUSIONS

Long-term exposure to raw lacquer may be associated with the onset of familial CMML. CMML patients with multi-hit TET2 mutations in the absence of ASXL1 mutations may have a favorable prognosis.