Connective tissue diseases combined with chronic myelomonocytic leukemia and myelofibrosis: a case report and literature review - Report - MDSpire

Connective tissue diseases combined with chronic myelomonocytic leukemia and myelofibrosis: a case report and literature review

  • By

  • Hai-Qin Yin

  • Sha Jin

  • Yao Fu

  • Hui-Ling Zhu

  • Xue-Fei Li

  • May 14, 2026

  • 0 min

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Clinical Report: Co-occurrence of Connective Tissue Disorders with CMML

Overview

This report details a case of a 52-year-old male with recurrent arthritis and fever, ultimately diagnosed with connective tissue disease (CTD) complicated by chronic myelomonocytic leukemia (CMML) and myelofibrosis (MF). A dual-target treatment regimen of azacytidine and ruxolitinib led to significant clinical improvement, particularly in managing symptoms and laboratory abnormalities.

Background

Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder characterized by peripheral blood monocytosis and bone marrow dysplasia, often associated with autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis. The co-occurrence of CMML with connective tissue disorders poses significant diagnostic challenges and complicates management strategies. Understanding this relationship is crucial for improving patient outcomes and reducing misdiagnosis.

Data Highlights

No numerical data available in the article.

Key Findings

  • The patient presented with recurrent fever and arthritis, initially suspected to have CTD.
  • Bone marrow cytology revealed abnormal hematopoiesis, leading to a diagnosis of CTD complicated by CMML and MF.
  • The patient underwent a dual-target treatment regimen of azacytidine and ruxolitinib.
  • Post-treatment, the patient's systemic symptoms improved significantly, with rectification of monocytosis and enhancement of anemia and thrombocytopenia.
  • Approximately 30% of CMML patients have concurrent autoimmune disorders, complicating diagnosis and treatment.

Clinical Implications

Clinicians should be aware of the potential for autoimmune diseases to coexist with CMML, as this can lead to misdiagnosis and inappropriate treatment. The dual-target approach using azacytidine and ruxolitinib may offer a promising strategy for managing patients with this complex interplay of conditions, emphasizing the need for careful monitoring and tailored treatment plans.

Conclusion

This case underscores the importance of recognizing the association between connective tissue disorders and CMML, highlighting the need for tailored treatment strategies to improve patient outcomes, particularly through the dual-target treatment approach.

Related Resources & Content

  1. Blood Cancer Journal, 2011 -- Concurrent Diagnosis of Primary Myelofibrosis and Chronic Lymphocytic Leukaemia: Utilizing a Single Treatment Approach for Two Distinct Conditions
  2. The ASCO Post, 2015 -- Two Case Reports on the Evaluation of Myeloid Neoplasm Related Articles
  3. Blood Cancer Journal, 2023 -- Multi-Omics Analysis of Three Hematological Cancers in a Patient Identifies Their Origin from Clonal Hematopoietic Stem Cells
  4. Blood Cancer Journal, 2016 -- In vivo magnetic resonance imaging of a mouse model of myelofibrosis
  5. Chronic Myelomonocytic Leukemia (CMML) -- Onkopedia Guidelines
  6. Chronic Myelomonocytic Leukemia (CMML) - Onkopedia
  7. Myelofibrose - Onkopedia

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