Germline pathogenic PTEN variant in a patient with a Kaposiform haemangioendothelioma.
Hannah Massey, Karim El Shakankery, Stefan N Symeonides et al.
✦ AI-curated · Sources linked
Case in brief
A 28-year-old female presented with Kaposiform haemangioendothelioma (KHE) and was found to have a germline pathogenic PTEN variant. Initial detection in tumor tissue was confirmed in saliva. Reverse phenotyping revealed features consistent with PTEN Harmatoma Tumour Syndrome, including large head circumference and skin lesions. The case highlights the importance of genomic profiling in diagnosing inherited cancer susceptibility disorders.
What made this case unusual
This case is notable for the association of a malignant vascular neoplasm, KHE, with PTEN Harmatoma Tumour Syndrome, which has not been well documented previously.
Diagnostic / clinical pearl
Clinicians should consider genetic testing for PTEN variants in young patients with KHE, especially when accompanied by subtle features of PTEN Harmatoma Tumour Syndrome.
Why it matters
This case underscores the potential for malignant vascular tumors to be associated with inherited cancer susceptibility syndromes, expanding the understanding of PTEN's role in tumorigenesis.