PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants - Summary - MDSpire

PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants

  • By

  • Kohanbash, Gary

  • Ryall, Scott

  • Gary, Sam E.

  • Hoffman, Lindsey M.

  • Siddaway, Robert

  • Bendel, Anne E.

  • Gripp, Karen W.

  • Walter, Andrew W.

  • Hansford, Jordan R.

  • Smith, Amy A.

  • Wang, Hong

  • Skaugen, John M.

  • Tabori, Uri

  • Hawkins, Cynthia E.

  • Broniscer, Alberto

  • March 5, 2026

  • 0 min

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Objective:

To evaluate the clinical, radiological, and molecular characteristics linking Noonan syndrome (NS) with the development of multifocal low-grade CNS tumors, specifically gliomas.

Key Findings:
  • NS patients exhibited a higher incidence of multifocal low-grade gliomas, indicating a need for increased surveillance.
  • Germline PTPN11 mutations were frequently associated with somatic FGFR1 alterations, suggesting a potential therapeutic target.
  • The study represents the largest cohort of NS patients with CNS tumors to date, providing robust data for future research.
Interpretation:

The findings suggest a significant link between Noonan syndrome and the development of multifocal low-grade CNS tumors, highlighting potential targets for FGFR1-directed therapies.

Limitations:
  • Small sample size of 24 patients may limit generalizability, potentially affecting the reliability of the findings.
  • Retrospective nature of the study could introduce bias, impacting the interpretation of the results.
Conclusion:

This study underscores the importance of genetic screening in NS patients for early identification and management of CNS tumors, potentially guiding targeted therapies and improving patient outcomes.

Original Source(s)

PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants

  • by Kohanbash, Gary, Ryall, Scott, Gary, Sam E., Hoffman, Lindsey M., Siddaway, Robert, Bendel, Anne E., Gripp, Karen W., Walter, Andrew W., Hansford, Jordan R., Smith, Amy A., Wang, Hong, Skaugen, John M., Tabori, Uri, Hawkins, Cynthia E., Broniscer, Alberto

  • March 5, 2026

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