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

Area of Science:

• Oncology
• Endocrinology
• Genetics

Background:

• Adults with Down syndrome (DS) frequently develop Hashimoto thyroiditis (HT).
• Primary thyroid diffuse large B-cell lymphoma (DLBCL) is rare, and its co-occurrence with HT in DS patients is exceptionally uncommon.
• This report highlights a unique case not previously documented in medical literature.

Observation:

• A 43-year-old woman with DS presented with progressive neck swelling, dyspnea, hoarseness, and dysphagia.
• Imaging revealed a large right thyroid lobe mass causing significant compression.
• Clinical and histopathologic findings confirmed coexisting primary thyroid DLBCL and HT.

Findings:

• Postoperative histopathology confirmed thyroid DLBCL and HT.
• The patient underwent palliative unilateral thyroidectomy followed by planned chemotherapy and targeted therapy.
• Despite interventions, the patient died three weeks post-surgery due to rapid tumor recurrence and asphyxia.

Implications:

• The simultaneous occurrence of Down syndrome, primary thyroid lymphoma, and Hashimoto thyroiditis is exceedingly rare.
• Standardized diagnostic approaches for primary thyroid lymphoma (PTL) are lacking, complicating early detection.
• A multidisciplinary approach and vigilant follow-up are crucial for managing such complex cases. Further research is needed to understand the underlying mechanisms linking DS and PTL.