ABSTRACT
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.
Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis/pathology , Lung Neoplasms/secondary , Thymus Neoplasms/secondary , Antineoplastic Agents/therapeutic use , Carboplatin/therapeutic use , Colorectal Neoplasms, Hereditary Nonpolyposis/drug therapy , Dasatinib/therapeutic use , Dexamethasone/therapeutic use , Diagnosis, Differential , Drug Therapy, Combination , Fatal Outcome , Female , Glucocorticoids/therapeutic use , Humans , Lung Neoplasms/drug therapy , Middle Aged , Paclitaxel/therapeutic use , Thymus Neoplasms/drug therapyABSTRACT
A 70-year-old woman with a history of bilateral primary knee osteoarthritis presented with a left knee wound complication, a non-Hodgkins lymphoma, after bilateral total knee arthroplasties. After exploring several etiologies, the evidence in this unusual case suggests a coincidental preexisting lymphoma.