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Cancer-Critical Genes II: Tumor Suppressor Genes01:05

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  11. The Genomic Landscape Of Benign And Malignant Thyroid Tumors From Individuals Carrying Germline Pten Variants Is Distinct From Sporadic Thyroid Cancers

The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers

Gilman Plitt1,2,3, Takae Brewer1,3,4, Lamis Yehia1

  • 1Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.

Cancer Research
|September 24, 2024

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View abstract on PubMed

Summary
This summary is machine-generated.

PTEN hamartoma tumor syndrome (PHTS) thyroid tumors show unique genomic changes, including frequent PTEN alterations, driving benign growth and malignant transformation. These findings offer insights for targeted therapies in PHTS patients.

Area of Science:

  • Oncology
  • Genomics
  • Endocrinology

Background:

  • PTEN hamartoma tumor syndrome (PHTS) is linked to increased thyroid disease risk.
  • Understanding the genomic basis of PHTS thyroid tumors is crucial for improving patient outcomes.

Purpose of the Study:

  • To characterize the somatic genomic alterations in thyroid tumors from patients with PHTS.
  • To compare the genomic landscape of PHTS-associated thyroid tumors with sporadic thyroid cancers.

Main Methods:

  • Exome sequencing was performed on 58 PHTS-associated thyroid tumors (28 cancers, 30 benign).
  • A cohort of 447 sporadic papillary thyroid cancers from The Cancer Genome Atlas (TCGA) was used for comparison.
  • Analysis focused on somatic alterations, including variants, loss-of-heterozygosity, and copy-number variations.

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Main Results:

  • PHTS thyroid tumors exhibit a distinct genomic landscape compared to sporadic tumors.
  • High frequency of second-hit somatic PTEN alterations (65.2% in PHTS PTC vs. 0.067% in sporadic PTC) was observed.
  • Alterations in BRAF, RAS family genes, DNA double-stranded break repair genes, and copy-number variations were also identified in PHTS PTC.

Conclusions:

  • Biallelic PTEN alterations appear foundational in PHTS thyroid tumorigenesis.
  • Impaired DNA repair and genomic instability contribute to malignant transformation in PHTS.
  • The unique genomic profile has implications for developing molecular-targeted therapies for PHTS patients.