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^*

^*Corresponding author

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

Research output: Contribution to journal › Article

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.

Original language	English
Pages (from-to)	1-7
Number of pages	7
Journal	Frontiers in Molecular Neuroscience
Volume	16
Issue number	16
DOIs	https://doi.org/10.3389/fnmol.2023.1228389
Publication status	Published - 2023

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

All Science Journal Classification (ASJC) codes

Molecular Biology
Cellular and Molecular Neuroscience

Keywords

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

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10.3389/fnmol.2023.1228389

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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, no. 16, pp. 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

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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

UN SDGs

All Science Journal Classification (ASJC) codes

Keywords

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