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DNA copy number changes in thyroid carcinoma.

S Hemmer1, V M Wasenius, S Knuutila

  • 1Departments of Oncology and Pathology and the Laboratory of Medical Genetics, Helsinki University Central Hospital, Helsinki, Finland.

The American Journal of Pathology
|May 18, 1999
PubMed
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Genetic changes in thyroid cancer are poorly understood. DNA copy number changes are rare in papillary thyroid cancer but common in follicular, medullary, and anaplastic types, with chromosome 22 loss frequent in aggressive follicular tumors.

Area of Science:

  • Genetics
  • Oncology
  • Genomic Medicine

Background:

  • Thyroid cancer encompasses several subtypes with distinct genetic profiles.
  • Understanding DNA copy number alterations is crucial for characterizing thyroid tumorigenesis.
  • Current knowledge on genetic changes in various thyroid carcinoma subtypes remains limited.

Purpose of the Study:

  • To investigate and compare DNA copy number changes across different primary thyroid carcinoma subtypes.
  • To identify specific genetic alterations associated with clinicopathological features and prognosis.

Main Methods:

  • Comparative genomic hybridization (CGH) was employed to analyze DNA copy number alterations.
  • Sixty-nine primary thyroid carcinomas, including papillary, follicular, medullary, and anaplastic types, were studied.

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  • Statistical analyses correlated genetic changes with patient age, tumor invasiveness, and metastasis.

    • Main Results:

    • DNA copy number changes were infrequent in papillary thyroid carcinoma (12%) but significantly more common in follicular (80%), medullary (50%), and anaplastic (85%) carcinomas.
    • Follicular carcinomas frequently exhibited deletions, with loss of chromosome 22 observed in 35% and associated with widely invasive disease and older age.
    • Anaplastic carcinomas showed the highest frequency of copy number changes, with gains in chromosomes 7p, 8q, and 9q.

    Conclusions:

    • DNA copy number alterations are prevalent in follicular, medullary, and anaplastic thyroid cancers, contrasting with their rarity in papillary thyroid cancer.
    • Loss of chromosome 22 is a notable finding in follicular thyroid carcinoma, particularly in advanced or widely invasive cases.
    • These findings highlight subtype-specific genomic instability patterns in thyroid carcinomas and suggest potential diagnostic or prognostic markers.