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VHL mosaicism: the added value of multi-tissue analysis.

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Von Hippel-Lindau (VHL) disease typically involves germline VHL variants. This case reveals VHL mosaicism, where a variant was found in tumors but initially missed in blood DNA, emphasizing tissue testing.

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Von Hippel-Lindau (VHL) disease is an inherited disorder.
  • It's caused by VHL gene variants, leading to various tumors.
  • Germline VHL variants are usually found in affected individuals.

Purpose of the Study:

  • To report a rare case of VHL disease.
  • To highlight diagnostic challenges when blood DNA testing is negative.
  • To emphasize the importance of tissue analysis in diagnosing VHL.

Main Methods:

  • Clinical diagnosis of VHL disease.
  • Peripheral blood DNA sequencing.
  • Tumor tissue DNA sequencing (ccRCC, pheochromocytoma, lung, liver).
  • Re-analysis of peripheral blood DNA.
  • Immunohistochemical analysis (alpha-inhibin, CAIX, pVHL).

Main Results:

  • Peripheral blood DNA analysis initially failed to detect a VHL variant.
  • Sequencing of four tumor tissues identified a VHL c.593T>C (p.Leu198Pro) variant.
  • The variant was present in tumors at varying allele fractions (10-55%).
  • Re-examination detected the variant at a low allele fraction (6%) in peripheral blood.
  • Tumor analysis confirmed VHL-related pseudohypoxia.

Conclusions:

  • This case demonstrates VHL mosaicism.
  • Tissue testing is crucial for diagnosing VHL in variant-negative cases.
  • Low-level mosaicism can be missed by standard blood DNA testing.