Abstract Details

Title Prevalence of Dysautonomia in PTEN Hamartoma Tumor Syndrome (PHTS)

Topic Neuro-oncology

Presentation(s) S13 - Neuro-oncology: Advances in Diagnosis and Treatments (2:36 PM-2:48 PM)

Poster/Presentation
Number 009

Objective We characterize the prevalence of dysautonomia in a large single-center cohort of patients with PTEN hamartoma tumor syndrome (PHTS) and examine the association between genomic variants in PTEN and syndrome phenotypes.

Background PHTS encompasses cancer and overgrowth predisposition syndromes caused by pathogenic germline PTEN variants. Clinically, symptoms of dysautonomia have been noted in PHTS; however, it is not known if PHTS is itself associated with dysregulation of the autonomic nervous system at a frequency higher than the general population. Characterizing the prevalence and phenotype of dysautonomia among patients with PHTS may inform our understanding of this disease.

Design/Methods 184 patients diagnosed with PHTS via germline PTEN pathogenic variant presence, seen for care between 2008 and 2024, were included. Retrospective chart review identified PTEN variant details, oncologic and autism spectrum disorder (ASD) history, and 15 symptoms common in dysautonomia. All symptoms for which another etiology was identified were excluded. Symptoms were classified into four general organ systems: gastrointestinal, neurosensory, cardiovascular, and thermoregulatory.

Results 75% of the cohort had at least one symptom of dysautonomia not attributable to another cause. Patients with PHTS and a cancer diagnosis, compared to those without cancer, demonstrated a significantly greater prevalence of autonomic symptoms affecting the cardiovascular system (21.7% vs. 7.3%, p = 0.010) and thermoregulatory function (31.7% vs. 10.7%, p <0.001). These patients demonstrated a higher prevalence of palpitations, dry eye, and temperature dysregulation. Patients with ASD were significantly less likely to display thermoregulatory symptoms (5.7% vs. 22.1%, p = 0.009). No specific PTEN gene variant classes or effects demonstrated an altered risk of dysautonomia.

Conclusions Patients with PHTS and malignancy demonstrate higher prevalence of cardiovascular and thermoregulatory dysautonomia, whereas patients with PHTS and ASD display less thermoregulatory dysfunction. Additional research is needed to determine whether features of dysautonomia precede oncologic diagnosis in PHTS.

Authors/Disclosures
Ryan Rilinger PRESENTER	Mr. Rilinger has nothing to disclose.
sophia lee, MD	Dr. lee has nothing to disclose.
Nayef Kiame	Mr. Kiame has nothing to disclose.
Lamis Yehia, PhD	Dr. Yehia has nothing to disclose.
Ying Ni, PhD	Dr. Ni has nothing to disclose.
Robert G. Wilson, DO (cleveland clinic)	Dr. Wilson has nothing to disclose.
Andrew Dhawan, MD (Cleveland Clinic)	Dr. Dhawan has nothing to disclose.

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