Hindquarter Amputation as a Successful Treatment of Chronic Pain in an Adolescent with PTEN Hamartoma Tumor Syndrome

The PTEN hamartoma tumor syndrome comprises a group of rare conditions caused by germline mutations of the tumor suppressor gene PTEN (Phosphatase and TENsin homolog deleted on chromosome 10). They include Cowden syndrome, Lhermitte-Duclos disease, and Bannayan–Riley–Ruvalcaba syndrome, but it appears likely that these conditions represent the spectrum of PTEN hamartoma tumor syndrome, in which penetrance and clinical variability play significant roles. The clinical features of PTEN hamartoma tumor syndrome vary between individuals and can appear at any age. They include an increased risk for certain types of cancers and benign tumors, as well as tumor-like malformations (hamartomas) and neurodevelopmental disorders.

We report the case of an adolescent male with PTEN hamartoma tumor syndrome who developed severe chronic pain in the context of multiple arteriovenous malformations of the left lower limb. He successfully underwent hindquarter amputation to manage a nonhealing ulcer, recurrent episodes of life-threatening hemorrhage, and escalating analgesic requirements. He had a remarkable recovery with neither pain nor phantom sensory issues and significant improvement in his quality of life.

Despite chronic preoperative pain, the radical surgery in this patient with PTEN hamartoma tumor syndrome resulted in an improved quality of life and virtually no long-term pain or analgesia requirements.