Frontiers in oncology · 2025
Raw lacquer-associated familial chronic myelomonocytic leukemia with multi-hit TET2 mutations.
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Zhang Yang, Luo Yujiao, Peng Hongling, Yin Yafei, Zhang Guangsen
Аннотация
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.
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.