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Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations
Andrew Dhawan1,2, Darren Liu2,3, Sarah Baitamouni2
1Rose Ella Burkhardt Brain Tumor and Neuro-Oncology Center, Cleveland Clinic, OH.
Insights
This study provides the first clinical guidelines for managing neurologic and neurodevelopmental challenges in PTEN Hamartoma Tumor Syndrome (PHTS). These guidelines aim to improve care for individuals with PHTS and their families.
Area of Science:
- Genetics and Medicine
- Neurology
- Developmental Pediatrics
Background:
- PTEN Hamartoma Tumor Syndrome (PHTS) is an inherited condition linked to PTEN gene variants, causing cancer predisposition and overgrowth.
- PHTS presents with diverse clinical features, including significant neurodevelopmental (ND) and neurologic issues.
- Current management lacks specific clinical practice guidelines for these neurologic and ND comorbidities.
Purpose of the Study:
- To establish the first clinical consensus guidelines for managing neurologic and neurodevelopmental manifestations in PHTS patients.
- To provide a resource for healthcare providers, researchers, and patients on best practices for PHTS-related neurologic and ND challenges.
- To address the complex and variable nature of PHTS manifestations.
Main Methods:
- A PHTS Consensus Guidelines Working Group, including genetics and neurology experts, was formed.
- Joint meetings were held with a Patient Advisory Group (PTEN Foundation).
- A modified Delphi approach with an extended panel of specialists was used to finalize guidelines based on literature review and expert feedback.
Main Results:
- The first iteration of clinical consensus recommendations for PHTS neurologic and ND management was developed.
- Guidelines cover neurodevelopmental challenges, mood disorders, screening, neuroimaging, comorbidities, and CNS tumors.
- Recommendations were refined through iterative feedback and expert consensus.
Conclusions:
- These guidelines offer a crucial resource for the multidisciplinary care of PHTS patients with neurologic and ND issues.
- Addressing these specific challenges is vital for improving the quality of life for individuals with PHTS.
- Ongoing efforts aim to further characterize PHTS natural history and refine management strategies.
Background And Objectives:
PTEN hamartoma tumor syndrome (PHTS) is an autosomal dominant cancer predisposition and overgrowth syndrome due to pathogenic germline variants in the PTEN gene. PHTS harbors a diverse range of clinical manifestations including an associated neurodevelopmental (ND) and neurologic phenotype, requiring a multidisciplinary approach to care. There are no clinical practice guidelines for the management of ND or neurologic comorbidities. The objective of these clinical guidelines was to use the latest knowledge to generate a resource for providers, researchers, and patients on the best practices in the practical management of neurologic and ND challenges in PHTS.
Methods:
The PHTS Consensus Guidelines Working Group was established, comprising a core group of seven experts in the diagnosis and management of PHTS, including genetics, neurology, neuropsychology, and neurodevelopment (including psychiatry and psychology). The Working Group held joint meetings with a Patient Advisory Group (PTEN Foundation), comprising patients with PHTS and their advocates. Informed by a comprehensive literature review, the Working Group met regularly between 2022 and 2024 to produce guideline statements, refined through iterative feedback. A modified Delphi approach was used with an independent extended panel of neurologists, neuropsychologists, and psychiatrists, to establish final consensus guidelines.
Results:
The first iteration of the clinical consensus recommendations for the management of ND and neurologic features in patients with PHTS was formed. Guidelines encompass ND challenges, mood disorders, ND screening, neuroimaging abnormalities, neurologic comorbidities, and tumors affecting the CNS.
Discussion:
While multiple efforts are ongoing to better characterize the natural history of PHTS, the clinical management of individuals with PHTS is complex and remains challenging because of variable expressivity and age-related specificities. As part of a comprehensive effort to develop consensus management guidelines, which cover all manifestations of PHTS, we present the first iteration of guidelines for the ND and neurologic manifestations of PHTS, aimed at improving care for affected individuals and families.
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