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Genotype Phenotype Correlation of Renal Tumors in the Cancer Genome Atlas Database

Daniel Albertson1, Marc Barry1, Ting Liu1

  • 1Department of Pathology, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA.

International Journal of Surgical Pathology
|July 21, 2024
PubMed

Insights

Histomorphology of renal tumors with specific molecular alterations was reviewed. Many subtypes showed overlapping features, underscoring the crucial role of molecular characterization in diagnosing kidney cancer.

Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • Morphological features are vital for evaluating renal tumors and guiding molecular analysis.
  • Accurate subtyping of renal cell carcinoma (RCC) is essential for prognosis and treatment.

Purpose of the Study:

  • To review the histomorphology of renal tumors with known molecular alterations.
  • To correlate specific morphologic features with defined molecular subtypes of RCC.

Main Methods:

  • Analysis of digital slides and pathology reports for 60 renal tumors from The Cancer Genome Atlas.
  • Identification of tumors with characteristic molecular alterations for defined RCC subtypes.
  • Recording and evaluation of morphologic features associated with specific genetic mutations or rearrangements.

Main Results:

  • Observed diverse histology (low- and high-grade) in TFE3 rearranged, TFEB amplified, SDH mutated, and mismatch repair-mutated RCCs.
  • Identified novel findings such as nuclear pseudostratification in fumarate hydratase mutated RCCs and nuclear grooves in SDH mutated RCCs.
  • Noted mucinous features in tumors with NF2, KRAS, SDH mutations and ALK rearrangements, alongside significant morphologic overlap across categories.

Conclusions:

  • Morphologic overlap is common among various molecularly defined RCC subtypes.
  • Molecular characterization plays a critical and increasing role in the accurate diagnosis and subclassification of renal tumors.
  • Continued integration of morphology and molecular data is essential for advancing kidney cancer diagnostics.
Keywords:
TCGAcorrelationmolecularmorphologyrenal tumor

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