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Case report
Thymic cancer in lynch syndrome: an unusual association
  1. Deepali Pandey1 and
  2. David Scott Shepro2
  1. 1Internal Medicine, Saint Vincent Hospital, Worcester, MA, USA
  2. 2Hematology/Oncology, Saint Vincent Hospital, Worcester, MA, USA
  1. Correspondence to Dr Deepali Pandey; drdeepalipandey05{at}


Lynch syndrome has been associated with predominantly colorectal, endometrial, and ovarian cancer. We report hereby an unusual case of thymic carcinoma in a patient with Lynch syndrome. A 45-year-old Caucasian woman with a personal history of Lynch syndrome (MLH1 heterozygous mutation) presented with dyspnea, chest pain, and dysphagia. CT chest showed a bulky anterior mediastinal mass, pulmonary nodules, and pericardial effusion. Lung biopsy demonstrated a poorly differentiated carcinoma with squamous features with extensive necrosis, favouring thymic origin. Genomic studies on the tumour revealed deficient mismatch repair status with a two-copy deletion of MLH1 at 3p22.2 and c-Kit mutation. She received carboplatin and paclitaxel, with initial clinical improvement, but then died within 3 months after diagnosis. This case highlights that thymic cancer may be one of the malignancies associated with Lynch syndrome, and MLH1 gene mutation may have a role in the pathogenesis of thymic cancer.

  • oncology
  • pathology

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  • Contributors DP was involved in writing, reviewing, editing of manuscript and image retrieval. DSS was involved in patient care, inception, planning and critical reviewing of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Next of kin consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.