Rapamycin treatment for a child with germline PTEN mutation.
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.


METHODS
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.


METHODS
PTEN hamartoma tumor syndrome, specifically Proteus syndrome.


RESULTS
Oral rapamycin.
Marsh
Deborah J
DJ
Kolling Institute of Medical Research, University of Sydney and Royal North Shore Hospital, Sydney, NSW, Australia.
Trahair
Toby N
TN
Martin
Janet L
JL
Chee
Wey Yeeng
WY
Walker
Jan
J
Kirk
Edwin P
EP
Baxter
Robert C
RC
Marshall
Glenn M
GM
D000903:Antibiotics, Antineoplastic / Q000627:therapeutic use*; D002648:Child; D018095:Germ-Line Mutation / Q000235:genetics*; D006223:Hamartoma Syndrome, Multiple / Q000188:drug therapy* / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D018971:Insulin-Like Growth Factor Binding Protein 2 / Q000097:blood; D008297:Male; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000378:metabolism; D011494:Protein Kinases / Q000235:genetics; D020123:Sirolimus / Q000627:therapeutic use*; D058570:TOR Serine-Threonine Kinases
D000903:Antibiotics, Antineoplastic; D018971:Insulin-Like Growth Factor Binding Protein 2; D051059:PTEN Phosphohydrolase; D019869:Phosphatidylinositol 3-Kinases; D011494:Protein Kinases; D020123:Sirolimus; D058570:TOR Serine-Threonine Kinases; C546842:MTOR protein, human; C494929:PTEN protein, human