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Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.

Gennady Bratslavsky1, Ethan S Sokol2, Michael Daneshvar1

  • 1Departments of Urology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.

Cancers
|July 20, 2021
PubMed
Summary

Advanced paraganglioma and pheochromocytoma patients have few treatment options. Comprehensive genomic profiling revealed actionable targets like FGFR1 and RET alterations, guiding future therapies for these rare tumors.

Keywords:
comprehensive genomic profilinggenomic alterationsparagangliomapheochromocytoma

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Area of Science:

  • Genomic Medicine
  • Oncology
  • Endocrinology

Background:

  • Clinically advanced paragangliomas (CA-Para) and pheochromocytomas (CA-Pheo) present limited therapeutic avenues.
  • Identifying actionable genomic alterations is crucial for developing targeted treatments for these neuroendocrine tumors.

Purpose of the Study:

  • To compare genomic alterations (GA) in CA-Para and CA-Pheo using comprehensive genomic profiling (CGP).
  • To identify potential therapeutic targets for patients with advanced paraganglioma and pheochromocytoma.

Main Methods:

  • Eighty-three CA-Para and 45 CA-Pheo samples underwent hybrid-capture-based CGP on a 324-gene panel.
  • Tumor mutational burden (TMB) and microsatellite instability (MSI) were assessed.
  • Genomic alterations and germline mutations in cancer predisposition genes were analyzed.

Main Results:

  • Low frequencies of genomic alterations were observed (1.9/tumor in CA-Para, 2.3/tumor in CA-Pheo).
  • Frequent potentially targetable GA included FGFR1 (CA-Para, CA-Pheo), RET (CA-Pheo), NF1 (CA-Pheo), PTEN, NF2, and CDK4 (CA-Para).
  • Germline mutations were more frequent in CA-Para (45%) than CA-Pheo (30%), notably involving SDHA/B genes. Low TMB, PD-L1 expression, and no high MSI status were observed in both.

Conclusions:

  • CGP identified specific, potentially targetable genomic alterations in both CA-Para and CA-Pheo.
  • Germline alterations were more prevalent in CA-Para, suggesting hereditary components.
  • Low PD-L1 and MSI status indicate limited efficacy for current immune checkpoint inhibitors, underscoring the importance of targeted therapies.