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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Villous papillary thyroid carcinoma: a variant associated with marfan syndrome

Daniel A Winer1, Shawn Winer, Lorne Rotstein

  • 1Department of Pathology, University Health Network, Toronto, ON, Canada.

Endocrine Pathology
|August 1, 2012
PubMed

Insights

Marfan syndrome (MFS), a connective tissue disorder, is unusually linked to a distinct papillary thyroid carcinoma variant. This rare association involves specific genetic mutations and aggressive tumor features.

Area of Science:

  • Oncology
  • Genetics
  • Connective Tissue Disorders

Background:

  • Marfan syndrome (MFS) is a genetic connective tissue disorder linked to transforming growth factor β (TGF-β) pathway dysregulation, typically caused by FBN1 mutations.
  • No prior association between Marfan syndrome and thyroid carcinoma has been documented.

Observation:

  • A 46-year-old male with Marfan syndrome developed an uncommon papillary thyroid carcinoma variant.
  • The tumor displayed a florid, widely invasive papillary growth pattern with prominent villous fronds.

Findings:

  • Immunohistochemical and molecular analyses identified a BRAF(V600E) mutation.
  • Aggressive biomarkers (HBME-1, cytokeratin 19, galectin-3, cyclin D1) were positive, with p27 loss.
  • Evidence of TGF-β-related epithelial-to-mesenchymal transition (EMT) and active phospho-SMAD signaling was observed.

Implications:

  • This case introduces a unique histological pattern of papillary thyroid carcinoma associated with Marfan syndrome.
  • The interplay of BRAF(V600E) mutation, altered TGF-β signaling, and compromised connective tissue integrity in MFS may drive this distinct tumor morphology and invasive behavior.

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