IllnessThyroid carcinoma, familial, non-medullary; differential diagnosis

NGS +

[Sanger]

Thyroid carcinomas remain asymptomatic for a long time in their early stages; later on, nodules on the neck may appear as well as pain, hoarseness and difficulty swallowing etc. Thyroid cancer is the most common malignant tumor of the endocrine system, the most common form of thyroid malignancy is papillary carcinoma, which accounts for about 80% of all cases. Yet papillary carcinoma is not a homogeneous entity, but rather a reservoir for different syndromes with susceptibility. Multifactorial events are probably very often the cause of this malignant pathogenesis, and autosomal dominant inheritance in families is more common than autosomal recessive. The diagnostic yield is rather low, and therefore an inconspicuous genetic finding certainly does not exclude a suspected clinical diagnosis.

Reference: https://academic.oup.com/jcem/article/85/5/1755/2660423

• Alias: Familial nonmedullary thyroid carcinoma
• Allelic: Bamforth-Lazarus syndrome (FOXE1)
• Allelic: Chorea, hereditary benign (NKX2-1)
• Allelic: Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
• Allelic: Dyserythropoietic anemia, congenital, type II (SEC23B)
• Carney complex, type 1 (PRKAR1A)
• Cowden syndrome 1 (PTEN)
• Cowden syndrome 7 (SEC23B)
• GLOW syndrome, somatic mosaic (DICER1)
• Gardner syndrome (APC)
• Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (DICER1)
• Mismatch repair cancer syndrome (MSH2)
• Thyroid cancer, nonmedullary, 1 (NKX2-1)
• Thyroid cancer, nonmedullary, 2 (SRGAP1)
• Thyroid cancer, nonmedullary, 4 (FOXE1)
• Thyroid cancer, nonmedullary, 5 (HAPB2)
• Thyroid dyshormonogenesis 1 (SLC5A5)
• Werner syndrome (WRN)