Recurrent DICER1 Hotspot Mutations in Malignant Thyroid Gland Teratomas: Molecular Characterization and Proposal for a Separate Classification

Reading time: 1 minute

Freshly released on AJSP, Lab.Equipment has curated this article for your Pathology news fix:

Thyroid gland teratomas are rare tumors that span a wide clinicopathologic spectrum. Although benign and immature teratomas arise in infants and young children and generally have good outcomes, malignant teratomas affect adults and follow an aggressive course. This divergent behavior raises the possibility that benign/immature and malignant teratomas are separate entities rather than different grades of a single tumor. However, the histogenesis and molecular underpinnings of thyroid gland teratomas are poorly understood regardless of grade. In this study, we performed next-generation sequencing on 8 thyroid gland teratomas, including 4 malignant, 3 benign, and 1 immature. We identified DICER1 hotspot mutations in all 4 malignant cases (100%) but not in any benign/immature cases (0%). No clinically significant mutations in other genes were found in either group. We also performed immunohistochemistry to characterize the primitive components of malignant teratomas. Not only did all cases consistently contain immature neural elements (synaptophysin and INSM1 positive), but also spindled cells with rhabdomyoblastic differentiation (desmin and myogenin positive) and bland epithelial proliferations of thyroid follicular origin (TTF-1 and PAX8 positive). Although DICER1 mutations have previously been implicated in multinodular hyperplasia and well-differentiated thyroid carcinomas, these findings demonstrate the first recurrent role for DICER1 in primitive thyroid tumors. The combined neural, rhabdomyoblastic, and homolo... Find the entire article at the AJSP Blog.

Working in the Surgical Pathology industry and interested in robust Pathology lab equipment for your laboratory? Check out Lab.Equipment’s range of Pathology equipment designed and engineered by trusted brands like:

• Radwag
• Hermle
• Troemner
• Scilogex
• Aczet

Acquire outstanding Histopath lab equipment available and ready for delivery including:

• Lab Stirrers
• Lab Balances
• Lab Mixers
• Lab Centrifuges
• Pipettes

Carrying out forensics, environmental, pharmaceutical applications? Count on Lab.Equipment to improve your workwoom productivity and efficiency. Get accurate and precise lab equipment no matter for what application here.