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Published on: October 15, 2018
Raw lacquer-associated familial chronic myelomonocytic leukemia with multi-hit TET2 mutations
Yang Zhang1, Yujiao Luo2, Hongling Peng2
1Department of Oncology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
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.
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