SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

A. M. Caroleo; S. Rotulo; E. Agolini; M. Macchiaiolo; L. Boccuto; M. Antonelli; G. S. Colafati; A. Cacchione; G. Megaro; A. Carai; Ioris M. A. De; M. Lodi; A. Tornesello; V. Simone; F. Torroni; G. Cinalli; Angela Mastronuzzi

doi:10.3389/fnmol.2023.1228389

SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

A. M. Caroleo
, S. Rotulo
, E. Agolini
, M. Macchiaiolo
, L. Boccuto
, M. Antonelli
, G. S. Colafati
, A. Cacchione
, G. Megaro
, A. Carai
, Ioris M. A. De
, M. Lodi
, A. Tornesello
, V. Simone
, F. Torroni
, G. Cinalli
, Angela Mastronuzzi^*

^*Autore corrispondente per questo lavoro

University of Rome La Sapienza
IRCCS Ospedale pediatrico Bambino Gesù - Roma
Clemson University
University “La Sapienza” of Rome
Ospedale Vito Fazzi
Azienda Ospedaliera Santobono Pausillipon

Risultato della ricerca: Contributo in rivista › Articolo

Abstract

Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a cancer predisposition syndrome characterized by an increased risk of developing benign and malignant tumors, caused by germline pathogenic variants of the PTEN tumour suppressor gene. PTEN gene variants often present in childhood with macrocephaly, developmental delay, and/or autism spectrum disorder while tumors and intestinal polyps are commonly detected in adults. PHTS is rarely associated with childhood brain tumors with only two reported cases of medulloblastoma (MB). We report the exceptional case of an infant carrying a germline and somatic pathogenic variant of PTEN and a germline and somatic pathogenic variant of CHEK2 who developed a MB SHH in addition to intestinal polyposis.

Lingua originale	Inglese
pagine (da-a)	1-7
Numero di pagine	7
Rivista	Frontiers in Molecular Neuroscience
Volume	16
Numero di pubblicazione	16
DOI	https://doi.org/10.3389/fnmol.2023.1228389
Stato di pubblicazione	Pubblicato - 2023

OSS delle Nazioni Unite

Questo processo contribuisce al raggiungimento dei seguenti obiettivi di sviluppo sostenibile

SDG 3 Salute e benessere

All Science Journal Classification (ASJC) codes

Biologia Molecolare
Neuroscienze Cellulari e Molecolari

Keywords

cancer predisposition syndrome (CPS)
intestinal polyp
medulloblastoma (MB)
pediatric
PTEN hamartoma tumor syndrome
PTHS

Accesso al documento

10.3389/fnmol.2023.1228389

Altri file e collegamenti

Cita questo

Caroleo, A. M., Rotulo, S., Agolini, E., Macchiaiolo, M., Boccuto, L., Antonelli, M., Colafati, G. S., Cacchione, A., Megaro, G., Carai, A., De, I. M. A., Lodi, M., Tornesello, A., Simone, V., Torroni, F., Cinalli, G., & Mastronuzzi, A. (2023). SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome. Frontiers in Molecular Neuroscience, 16(16), 1-7. https://doi.org/10.3389/fnmol.2023.1228389

@article{0cc4c8275e574f00a6b1b722d4820a5a,

title = "SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome",

abstract = "Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a cancer predisposition syndrome characterized by an increased risk of developing benign and malignant tumors, caused by germline pathogenic variants of the PTEN tumour suppressor gene. PTEN gene variants often present in childhood with macrocephaly, developmental delay, and/or autism spectrum disorder while tumors and intestinal polyps are commonly detected in adults. PHTS is rarely associated with childhood brain tumors with only two reported cases of medulloblastoma (MB). We report the exceptional case of an infant carrying a germline and somatic pathogenic variant of PTEN and a germline and somatic pathogenic variant of CHEK2 who developed a MB SHH in addition to intestinal polyposis.",

keywords = "cancer predisposition syndrome (CPS), intestinal polyp, medulloblastoma (MB), pediatric, PTEN hamartoma tumor syndrome, PTHS, cancer predisposition syndrome (CPS), intestinal polyp, medulloblastoma (MB), pediatric, PTEN hamartoma tumor syndrome, PTHS",

author = "Caroleo, \{A. M.\} and S. Rotulo and E. Agolini and M. Macchiaiolo and L. Boccuto and M. Antonelli and Colafati, \{G. S.\} and A. Cacchione and G. Megaro and A. Carai and De, \{Ioris M. A.\} and M. Lodi and A. Tornesello and V. Simone and F. Torroni and G. Cinalli and Angela Mastronuzzi",

year = "2023",

doi = "10.3389/fnmol.2023.1228389",

language = "English",

volume = "16",

pages = "1--7",

journal = "Frontiers in Molecular Neuroscience",

issn = "1662-5099",

publisher = "Frontiers Media SA",

number = "16",

}

Caroleo, AM, Rotulo, S, Agolini, E, Macchiaiolo, M, Boccuto, L, Antonelli, M, Colafati, GS, Cacchione, A, Megaro, G, Carai, A, De, IMA, Lodi, M, Tornesello, A, Simone, V, Torroni, F, Cinalli, G & Mastronuzzi, A 2023, 'SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome', Frontiers in Molecular Neuroscience, vol. 16, n. 16, pagg. 1-7. https://doi.org/10.3389/fnmol.2023.1228389

TY - JOUR

T1 - SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

AU - Caroleo, A. M.

AU - Rotulo, S.

AU - Agolini, E.

AU - Macchiaiolo, M.

AU - Boccuto, L.

AU - Antonelli, M.

AU - Colafati, G. S.

AU - Cacchione, A.

AU - Megaro, G.

AU - Carai, A.

AU - De, Ioris M. A.

AU - Lodi, M.

AU - Tornesello, A.

AU - Simone, V.

AU - Torroni, F.

AU - Cinalli, G.

AU - Mastronuzzi, Angela

PY - 2023

Y1 - 2023

N2 - Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a cancer predisposition syndrome characterized by an increased risk of developing benign and malignant tumors, caused by germline pathogenic variants of the PTEN tumour suppressor gene. PTEN gene variants often present in childhood with macrocephaly, developmental delay, and/or autism spectrum disorder while tumors and intestinal polyps are commonly detected in adults. PHTS is rarely associated with childhood brain tumors with only two reported cases of medulloblastoma (MB). We report the exceptional case of an infant carrying a germline and somatic pathogenic variant of PTEN and a germline and somatic pathogenic variant of CHEK2 who developed a MB SHH in addition to intestinal polyposis.

AB - Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a cancer predisposition syndrome characterized by an increased risk of developing benign and malignant tumors, caused by germline pathogenic variants of the PTEN tumour suppressor gene. PTEN gene variants often present in childhood with macrocephaly, developmental delay, and/or autism spectrum disorder while tumors and intestinal polyps are commonly detected in adults. PHTS is rarely associated with childhood brain tumors with only two reported cases of medulloblastoma (MB). We report the exceptional case of an infant carrying a germline and somatic pathogenic variant of PTEN and a germline and somatic pathogenic variant of CHEK2 who developed a MB SHH in addition to intestinal polyposis.

KW - cancer predisposition syndrome (CPS)

KW - intestinal polyp

KW - medulloblastoma (MB)

KW - pediatric

KW - PTEN hamartoma tumor syndrome

KW - PTHS

KW - cancer predisposition syndrome (CPS)

KW - intestinal polyp

KW - medulloblastoma (MB)

KW - pediatric

KW - PTEN hamartoma tumor syndrome

KW - PTHS

UR - https://publicatt.unicatt.it/handle/10807/329567

UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85169931509&origin=inward

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85169931509&origin=inward

U2 - 10.3389/fnmol.2023.1228389

DO - 10.3389/fnmol.2023.1228389

M3 - Article

SN - 1662-5099

VL - 16

SP - 1

EP - 7

JO - Frontiers in Molecular Neuroscience

JF - Frontiers in Molecular Neuroscience

IS - 16

ER -

SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

Abstract

OSS delle Nazioni Unite

All Science Journal Classification (ASJC) codes

Keywords

Accesso al documento

Altri file e collegamenti

Fingerprint

Cita questo