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Related Concept Videos

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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
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Related Experiment Video

Updated: May 13, 2025

Spontaneous Murine Model of Anaplastic Thyroid Cancer
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Papillary Thyroid Carcinoma With 5 Unique Point Mutations and Typical Behavior.

Aditya Chauhan1, Siddhartha Sen2, Khalid Amin2

  • 1Division of Diabetes, Endocrinology & Metabolism, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA.

JCEM Case Reports
|April 14, 2025
PubMed
Summary

This study reports a rare case of papillary thyroid carcinoma (PTC) with five unique driver mutations. Despite numerous genetic alterations, the tumor exhibited non-aggressive behavior.

Keywords:
BRAF D594NNRAS Q61HPIK3CA G1007RPTENmutation numberpapillary thyroid carcinoma

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Papillary thyroid carcinoma (PTC) typically presents with solitary driver mutations.
  • The impact and frequency of multiple driver mutations in PTC remain underexplored.

Observation:

  • A 62-year-old female patient with a 2.6-cm classical PTC was analyzed.
  • Next-generation sequencing identified five novel single nucleotide variants: BRAF D594N, NRAS Q61H, PIK3CA G1007R, and two PTEN variants (R335*, Y225*).

Findings:

  • This represents the highest number of pathogenic variants reported in a primary PTC resection specimen to date.
  • The identified mutations were not previously documented in The Cancer Genome Atlas (TCGA) study for PTC.

Implications:

  • The non-aggressive clinical course suggests that individual mutations may have weaker oncogenic drivers.
  • This case highlights the complexity of genetic alterations in PTC and their variable impact on tumor behavior.