Down syndrome with primary thyroid diffuse large B-cell lymphoma and Hashimoto thyroiditis: A CARE compliant case...

Adult patients with Down syndrome (DS) commonly develop Hashimoto thyroiditis (HT). However, primary diffuse large B-cell lymphoma (DLBCL) of the thyroid is uncommon, and its simultaneous occurrence with HT is very rare. To our knowledge, coexisting DLBCL and HT in a patient with DS has not been reported in the medical literature.

We present a 43-year-old woman with DS who reported progressive swelling of the neck on the right side and dyspnea over the previous 1 month, with associated neck ache, hoarseness, and dysphagia. Thyroid ultrasonography and computed tomography of the neck revealed a large mass in the right lobe compressing the surrounding tissues.

Based on the clinical and histopathologic findings, the patient was diagnosed with coexisting primary thyroid DLBCL and HT.

A palliative unilateral thyroidectomy was performed; postoperative histopathology and immunohistochemistry revealed thyroid DLBCL and HT. The patient was scheduled for chemotherapy and targeted therapy after recovering from surgery.

The patient died 3 weeks after surgery due to asphyxia caused by uncontrollable growth of recurrent tumor.

The coexistence of DS, primary thyroid DLBCL, and HT is very rare. There is no standardized approach to the clinical identification of primary thyroid lymphoma (PTL), making early diagnosis difficult. A multidisciplinary approach and close follow-up are needed. The mechanisms of the link between DS and PTL are poorly understood and remain to be elucidated.