PMID- 36345927
OWN - NLM
STAT- MEDLINE
DCOM- 20221202
LR  - 20221204
IS  - 2472-1727 (Electronic)
VI  - 114
IP  - 20
DP  - 2022 Dec 1
TI  - Clinical and genetic analysis of patients with segmental overgrowth features and 
      somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel 
      clinical issues.
PG  - 1440-1448
LID - 10.1002/bdr2.2113 [doi]
AB  - Segmental overgrowth syndromes include a group of clinical entities, all 
      characterized by the abundant proliferation of tissues or organs in association 
      with vascular abnormalities. These syndromes show a wide spectrum of severity 
      ranging from limited involvement of only small areas of the body to complex cases 
      with impressive distortions of multiple tissues and organs. It is now clear that 
      somatic mutations in genes of the phosphoinositide 3-kinase (PI3K)/protein kinase 
      B (AKT)/mammalian target of rapamycin (mTOR) pathway (in brief "mTOR pathway") 
      are responsible for such entities. Not all the cells of the body carry the same 
      causative mutation, which is mosaic, appearing from two (or more) distinct cell 
      lineages after fertilization. In this article, we reconsider the clinical 
      spectrum and surveillance programs of patients with segmental overgrowth 
      syndromes, based on the features of six patients with diverse clinical forms of 
      overgrowth and pathogenic variants in genes of the mTOR pathway.
CI  - (c) 2022 Wiley Periodicals LLC.
FAU - Romano, Ferruccio
AU  - Romano F
AD  - Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
AD  - Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal 
      and Child Health, University of Genoa, Genoa, Italy.
FAU - Madia, Francesca
AU  - Madia F
AD  - Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - De Marco, Patrizia
AU  - De Marco P
AD  - Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - Ognibene, Marzia
AU  - Ognibene M
AD  - Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - Guerrisi, Sara
AU  - Guerrisi S
AD  - Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - Scala, Marcello
AU  - Scala M
AD  - Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - Iacomino, Michele
AU  - Iacomino M
AD  - Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - Baldassari, Simona
AU  - Baldassari S
AD  - Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - Vercellino, Nadia
AU  - Vercellino N
AD  - Dermatology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - Manunza, Francesca
AU  - Manunza F
AD  - Dermatology Unit, Businco Hospital, ARNAS G. Brotzu, Cagliari, Italy.
FAU - Tallone, Ramona
AU  - Tallone R
AD  - D.O.P.O. Ambulatory for Oncologic Follow-up, IRCCS Istituto Giannina Gaslini, 
      Genoa, Italy.
FAU - Pavanello, Marco
AU  - Pavanello M
AD  - Neurosurgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - Piatelli, Gianluca
AU  - Piatelli G
AD  - Neurosurgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - Garaventa, Alberto
AU  - Garaventa A
AD  - Pediatric Oncology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
FAU - Zara, Federico
AU  - Zara F
AD  - Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
AD  - Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal 
      and Child Health, University of Genoa, Genoa, Italy.
FAU - Capra, Valeria
AU  - Capra V
AD  - Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
LA  - eng
PT  - Case Reports
PT  - Research Support, Non-U.S. Gov't
DEP - 20221108
PL  - United States
TA  - Birth Defects Res
JT  - Birth defects research
JID - 101701004
RN  - EC 2.7.1.- (Phosphatidylinositol 3-Kinases)
RN  - EC 2.7.1.137 (Class I Phosphatidylinositol 3-Kinases)
RN  - EC 2.7.11.1 (TOR Serine-Threonine Kinases)
RN  - EC 2.7.1.1 (MTOR protein, human)
SB  - IM
MH  - Humans
MH  - *Phosphatidylinositol 3-Kinases/genetics/metabolism
MH  - Class I Phosphatidylinositol 3-Kinases/genetics/metabolism
MH  - *TOR Serine-Threonine Kinases/genetics/metabolism
MH  - Genetic Testing
MH  - Mutation
MH  - Syndrome
OTO - NOTNLM
OT  - MTOR
OT  - PIK3CA
OT  - genetic mosaicism
OT  - genotype-phenotype correlations
OT  - segmental overgrowth
OT  - somatic mutations
EDAT- 2022/11/09 06:00
MHDA- 2022/12/03 06:00
CRDT- 2022/11/08 06:02
PHST- 2022/10/17 00:00 [revised]
PHST- 2022/09/29 00:00 [received]
PHST- 2022/10/20 00:00 [accepted]
PHST- 2022/11/09 06:00 [pubmed]
PHST- 2022/12/03 06:00 [medline]
PHST- 2022/11/08 06:02 [entrez]
AID - 10.1002/bdr2.2113 [doi]
PST - ppublish
SO  - Birth Defects Res. 2022 Dec 1;114(20):1440-1448. doi: 10.1002/bdr2.2113. Epub 
      2022 Nov 8.