Work

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

Year: 2025

Type: article

Abstract: 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.

Source: Frontiers in Oncology

DOI: 10.3389/fonc.2025.1605369

Authors: Yang Zhang, Yujiao Luo, Hongling Peng, Yafei Yin, Guangsen Zhang

Institutions: Central South University, Second Xiangya Hospital of Central South University, Xiangya Hospital Central South University, Changsha Central Hospital, University of South China

Language: English

Topic: Acute Myeloid Leukemia Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,801