Co-existing squamous cell carcinoma and chronic myelomonocytic leukemia with ASXL1 and EZH2 gene mutations - A case report

Sep 24, 2026

Chronic myelomonocytic leukemia (CMML) is a rare clonal hematopoietic stem cell disorder with a generally poor prognosis and frequent progression to acute myeloid leukemia. The coexistence of hematologic malignancies with solid tumors is extremely uncommon, and CMML combined with lung malignancy is even rarer. This case report describes a patient with CMML harboring ASXL1 and EZH2 mutations together with non-small cell lung cancer (lung squamous cell carcinoma).

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages9

Reading Time23 min

AccessFree to download

Abstract

Background

Case Summary

Conclusion

Core Tip

Introduction

Chief complaints

History of present illness

| W | J | C | C | World Journal of
Clinical Cases | | --- | --- | --- | --- | --- | Submit a Manuscript: [https://www.f6publishing.com](https://www.f6publishing.com) World J Clin Cases 2023 May 26; 11(15): 3643-3650 DOI: 10.12998/wjcc.v11.i15.3643 ISSN 2307-8960 (online) CASE REPORT 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 Specialty type: Hematology Provenance and peer review: Unsolicited article; Externally peer reviewed. Peer-review model: Single blind Peer-review report’s scientific quality classification Grade A (Excellent): 0 Grade B (Very good): B Grade C (Good): C Grade D (Fair): D Grade E (Poor): 0 P-Reviewer: Papadopoulos VP, Greece; Sultana N, Bangladesh 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 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 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.](China. denglaijun1982@163.com)[ denglaijun1982@163.com](China. denglaijun1982@163.com) 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. Key Words: Squamous cell carcinoma; Chronic myelomonocytic leukemia; Myelo- WJCC [https://www.wjgnet.com](https://www.wjgnet.com) 3643 May 26, 2023 Volume 11 Issue 15 Deng LJ et al. Squamous cell carcinoma and CMML proliferative neoplasms; Myelodysplastic; ASXL1 gene mutations; EZH2 gene mutations; Case report ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved. 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 nonspecific, and the rare presence of malignant tumors in the lungs poses challenges in diagn

FAQs

What does the case report focus on?

It reports co-existing chronic myelomonocytic leukemia (CMML) and lung squamous cell carcinoma in a single patient, including the genetic findings of ASXL1 and EZH2 mutations.

What initial symptoms led to medical evaluation?

A 63-year-old male had toothache with cough, sputum production, and bloody sputum for three months, along with continuous bleeding after a tooth extraction.

How did the patient progress after treatment?

After azacitidine, programmed cell death protein 1, and platinum-based chemotherapy, the patient developed severe myelosuppression and ultimately died from leukocyte stasis and dyspnea.

Sep 24, 2026

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