Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 26, 2023; 11(15): 3643-3650
Published online May 26, 2023. doi: 10.12998/wjcc.v11.i15.3643
Co-existing squamous cell carcinoma and chronic myelomonocytic leukemia with ASXL1 and EZH2 gene mutations: A case report
Lai-Jun Deng, Yang Dong, Mi-Mi Li, Chang-Gang Sun
Lai-Jun Deng, Chang-Gang Sun, Department of Hematology, Weifang Hospital of Traditional Chinese Medicine, Weifang 261000, Shandong Province, China
Yang Dong, Department of Clinical Pharmacy, Weifang Hospital of Traditional Chinese Medicine, Weifang 261000, Shandong Province, China
Mi-Mi Li, Department of Pathology, Weifang Hospital of Traditional Chinese Medicine, Weifang 261000, Shandong Province, China
Author contributions: Deng LJ designed the research study; Deng LJ and Dong Y performed the research and wrote the manuscript; Li MM and Sun CG analyzed the data; all authors have read and approve the final manuscript.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors do not have any possible conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Lai-Jun Deng, MS, Staff Physician, Department of Hematology, Weifang Hospital of Traditional Chinese Medicine, No. 1055 Weizhou Road, Kuiwen District, Weifang 261000, Shandong Province, China. denglaijun1982@163.com
Received: February 16, 2023
Peer-review started: February 16, 2023
First decision: March 28, 2023
Revised: April 7, 2023
Accepted: April 19, 2023
Article in press: April 19, 2023
Published online: May 26, 2023
Processing time: 98 Days and 7.1 Hours
Abstract
BACKGROUND

Chronic myelomonocytic leukemia (CMML), a rare clonal hematopoietic stem cell disorder characterized by myelodysplastic syndrome and myeloproliferative neoplasms, has a generally poor prognosis, and easily progresses to acute myeloid leukemia. The simultaneous incidence of hematologic malignancies and solid tumors is extremely low, and CMML coinciding with lung malignancies is even rarer. Here, we report a case of CMML, with ASXL1 and EZH2 gene mutations, combined with non-small cell lung cancer (lung squamous cell carcinoma).

CASE SUMMARY

A 63-year-old male, suffering from toothache accompanied by coughing, sputum, and bloody sputum for three months, was given a blood test after experiencing continuous bleeding resulting from a tooth extraction at a local hospital. Based on morphological results, the patient was diagnosed with CMML and bronchoscopy was performed in situ to confirm the diagnosis of squamous cell carcinoma in the lower lobe of the lung. After receiving azacitidine, programmed cell death protein 1, and platinum-based chemotherapy drugs, the patient developed severe myelosuppression and eventually fatal leukocyte stasis and dyspnea.

CONCLUSION

During the treatment and observation of CMML and be vigilant of the growth of multiple primary malignant tumors.

Keywords: Squamous cell carcinoma, Chronic myelomonocytic leukemia, Myeloproliferative neoplasms, Myelodysplastic, ASXL1 gene mutations, EZH2 gene mutations, Case report

Core Tip: A 63-year-old male, with a long history of heavy smoking, was diagnosed with chronic myelomonocytic leukemia (CMML), with additional sex combs-like and enhancer of zeste homolog 2 gene mutations, as well as non-small cell lung cancer (squamous cell carcinoma). However, no such mutations were found in the lung cancer tissue. In CMML patients, pulmonary manifestations are non-specific, and the rare presence of malignant tumors in the lungs poses challenges in diagnosis. After receiving azacitidine, programmed cell death protein 1, and platinum-based chemotherapy drugs, the patient developed severe myelosuppression and eventually fatal leukocyte stasis and dyspnea. Therefore, during treatment and observation of CMML, medical practitioners should pay attention to the occurrence and evolution of solid tumors such as lung cancer, and be vigilant of the growth of multiple primary malignant tumors.