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Related Concept Videos

  • Biomedical And Clinical Sciences
  • Oncology And Carcinogenesis
  • Predictive And Prognostic Markers
  • Comprehensive Genomic Profiling Of Infiltrative Follicular Variant Of Papillary Thyroid Carcinoma.
  • Biomedical And Clinical Sciences
  • Oncology And Carcinogenesis
  • Predictive And Prognostic Markers
  • Comprehensive Genomic Profiling Of Infiltrative Follicular Variant Of Papillary Thyroid Carcinoma.

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    Comprehensive genomic profiling of infiltrative follicular variant of papillary thyroid carcinoma.

    Quanyou Wu1,2, Chunfang Hu3, Lin Feng2

    • 1Division of Abdominal Cancer, Department of Medical Oncology, Cancer Center and Laboratory of Molecular Targeted Therapy in Oncology, West China Hospital, Sichuan University, Chengdu, China.

    Cancer
    |August 14, 2024

    View abstract on PubMed

    Summary
    This summary is machine-generated.

    This study identified human leukocyte antigen C (HLA-C) as a promising biomarker for diagnosing infiltrative follicular variant of papillary thyroid carcinoma (IFVPTC). HLA-C immunohistochemistry can help differentiate IFVPTC from noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP).

    Keywords:
    diagnosisgenetic alterationsinfiltrative follicular variant of papillary thyroid carcinomasubclonal architecturewhole‐exome sequencing

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    Area of Science:

    • Genomics
    • Oncology
    • Molecular Pathology

    Background:

    • Infiltrative follicular variant of papillary thyroid carcinoma (IFVPTC) presents diagnostic challenges due to overlapping features with other thyroid neoplasms.
    • Accurate differentiation is crucial for appropriate patient management and treatment strategies.
    • Limited understanding of IFVPTC's molecular landscape necessitates the identification of reliable diagnostic markers.

    Purpose of the Study:

    • To characterize the genetic alterations in IFVPTC.
    • To identify novel molecular markers for improved diagnosis of IFVPTC.
    • To distinguish IFVPTC from noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP).

    Main Methods:

    • Whole-exome sequencing (WES) was performed on 50 IFVPTC tumor-normal pairs.
    • Analysis included single-nucleotide variants, somatic copy number alterations (sCNAs), and subclonal architecture.
    • Key findings were validated using polymerase chain reaction, Sanger sequencing, and immunohistochemistry (IHC).

    Main Results:

    • Endogenous processes, not exogenous mutagens, shaped the IFVPTC genome.
    • BRAF V600E was the sole common trunk mutation and significantly mutated gene.
    • Human leukocyte antigen C (HLA-C) and HLA-A were significantly amplified; HLA-C IHC showed potential in distinguishing IFVPTC/I-EFVPTC from NIFTP.

    Conclusions:

    • This study elucidates the genetic landscape of IFVPTC.
    • HLA-C immunohistochemistry is a promising tool for differentiating challenging IFVPTC and invasive encapsulated follicular variant of PTC (I-EFVPTC) cases from NIFTP.
    • Findings enhance molecular understanding for improved IFVPTC diagnosis and management.