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.
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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.