Rapamycin treatment for a child with germline PTEN mutation
DJ Marsh, TN Trahair, JL Martin, WY Chee… - Nature clinical practice …, 2008 - nature.com
Nature clinical practice Oncology, 2008•nature.com
Background A 9-month-old boy with Proteus syndrome and a de novo germline mutation in
the tumor suppressor PTEN was referred to a specialist centre for management. Over the
first years of life, the patient developed life-threatening respiratory dysfunction and
malnutrition because of progressive growth of hamartomas affecting the chest, mediastinum,
abdomen and pelvis. Investigations Physical examination, CT scans of the mediastinum,
pelvis and abdomen, measurement of serum insulin-like growth factor binding protein-2, and …
the tumor suppressor PTEN was referred to a specialist centre for management. Over the
first years of life, the patient developed life-threatening respiratory dysfunction and
malnutrition because of progressive growth of hamartomas affecting the chest, mediastinum,
abdomen and pelvis. Investigations Physical examination, CT scans of the mediastinum,
pelvis and abdomen, measurement of serum insulin-like growth factor binding protein-2, and …
Abstract
Background A 9-month-old boy with Proteus syndrome and a de novo germline mutation in the tumor suppressor PTEN was referred to a specialist centre for management. Over the first years of life, the patient developed life-threatening respiratory dysfunction and malnutrition because of progressive growth of hamartomas affecting the chest, mediastinum, abdomen and pelvis.
Investigations Physical examination, CT scans of the mediastinum, pelvis and abdomen, measurement of serum insulin-like growth factor binding protein-2, and investigation of the effect of the PTEN mutation on phosphatidylinositol 3-kinase/mammalian target of rapamycin signaling in an in vitro cell model.
Diagnosis PTEN hamartoma tumor syndrome, specifically Proteus syndrome.
Management Oral rapamycin.
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