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

被引：1

作者：

Caroleo, Anna Maria ^{[1
]}

Rotulo, Silvia ^{[2
]}

Agolini, Emanuele ^{[3
]}

Macchiaiolo, Marina ^{[4
]}

Boccuto, Luigi ^{[5
]}

Antonelli, Manila ^{[6
]}

Colafati, Giovanna Stefania ^{[7
]}

Cacchione, Antonella ^{[1
]}

Megaro, Giacomina ^{[1
]}

Carai, Andrea ^{[8
]}

De Ioris, Maria Antonietta ^{[1
]}

Lodi, Mariachiara ^{[1
]}

Tornesello, Assunta ^{[9
]}

Simone, Valeria ^{[9
]}

Torroni, Filippo ^{[10
]}

Cinalli, Giuseppe ^{[11
]}

Mastronuzzi, Angela ^{[1
]}

机构：

[1] IRCCS, Bambino Gesu Childrens Hosp, Dept Oncohaematol Cell Therapy Gene Therapy & Hemo, Rome, Italy

[2] Sapienza Univ Rome, Dept Pediat, Rome, Italy

[3] IRCCS, Bambino Gesu Childrens Hosp, Translat Cytogen Res Unit, Lab Med Genet, Rome, Italy

[4] IRCCS Bambino Gesu Childrens Hosp, Rare Dis & Med Genet Unit, Rome, Italy

[5] Clemson Univ, Coll Behav Social & Hlth Sci, Sch Nursing, Healthcare Genet Interdisciplinary Doctoral Progra, Clemson, SC USA

[6] Sapienza Univ Rome, Fac Med & Dent, Dept Radiol Oncol & Pathol Anat Sci, Rome, Italy

[7] Bambino Gesu Childrens Hosp IRCCS, Dept Imaging, Neuroradiol Unit, Rome, Italy

[8] Bambino Gesu Childrens Hosp IRCCS, Dept Neurosci, Neurosurg Unit, Rome, Italy

[9] Osped Vito Fazzi, Pediat Oncol Unit, Lecce, Italy

[10] IRCCS, Bambino Gesu Children Hosp, Digest Endoscopy & Surg Unit, Rome, Italy

[11] Santobono Pausilipon Childrens Hosp, Dept Neurosci, Pediat Neurosurg Unit, Naples, Italy

来源：

FRONTIERS IN MOLECULAR NEUROSCIENCE | 2023年 / 16卷

关键词：

cancer predisposition syndrome (CPS); pediatric; PTHS; medulloblastoma (MB); intestinal polyp; PTEN hamartoma tumor syndrome; JUVENILE POLYPOSIS; COWDEN-DISEASE; MUTATIONS; CANCER; DELETION; BMPR1A; 10Q23; RISK; PROGRESSION; LANDSCAPE;

D O I：

10.3389/fnmol.2023.1228389

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页数：7

共 50 条

[1] A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome [J].

Bajro, Marija Hiljadnikova ;

Sukarova-Angelovska, Elena ;

Adelaide, Jose ;

Chaffanet, Max ;

Dimovski, Aleksandar J. .

JOURNAL OF APPLIED GENETICS, 2013, 54 (01) :43-47

[2] Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience [J].

Ciaccio, Claudia ;

Saletti, Veronica ;

D'Arrigo, Stefano ;

Esposito, Silvia ;

Alfei, Enrico ;

Moroni, Isabella ;

Tonduti, Davide ;

Chiapparini, Luisa ;

Pantaleoni, Chiara ;

Milani, Donatella .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 62 (12)

[3] NCCN: Continuing Education [J].

Daly, Mary B. ;

Pilarski, Robert ;

Yurgelun, Matthew B. ;

Berry, Michael P. ;

Buys, Saundra S. ;

Dickson, Patricia ;

Domchek, Susan M. ;

Elkhanany, Ahmed ;

Friedman, Susan ;

Garber, Judy E. ;

Goggins, Michael ;

Hutton, Mollie L. ;

Khan, Seema ;

Klein, Catherine ;

Kohlmann, Wendy ;

Kurian, Allison W. ;

Laronga, Christine ;

Litton, Jennifer K. ;

Mak, Julie S. ;

Menendez, Carolyn S. ;

Merajver, Sofia D. ;

Norquist, Barbara S. ;

Offit, Kenneth ;

Pal, Tuya ;

Pederson, Holly J. ;

Reiser, Gwen ;

Shannon, Kristen Mahoney ;

Visvanathan, Kala ;

Weitzel, Jeffrey N. ;

Wick, Myra J. ;

Wisinski, Kari B. ;

Dwyer, Mary A. ;

Darlow, Susan D. .

JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK, 2020, 18 (04) :380-391

[4] Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes [J].

Delnatte, Capucine ;

Sanlaville, Damien ;

Mougenot, Jean-Francois ;

Vermeesch, Joris-Robert ;

Houdayer, Claude ;

de Blois, Marie-Christine ;

Genevieve, David ;

Goulet, Olivier ;

Fryns, Jean-Pierre ;

Jaubert, Francis ;

Vekemans, Michel ;

Lyonnet, Stanislas ;

Romana, Serge ;

Eng, Charis ;

Stoppa-Lyonnet, Dominique .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (06) :1066-1074

[5] PTENAlterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine? [J].

Fusco, Nicola ;

Sajjadi, Elham ;

Venetis, Konstantinos ;

Gaudioso, Gabriella ;

Lopez, Gianluca ;

Corti, Chiara ;

Rocco, Elena Guerini ;

Criscitiello, Carmen ;

Malapelle, Umberto ;

Invernizzi, Marco .

GENES, 2020, 11 (07) :1-19

[6] Deconstructing Sonic Hedgehog Medulloblastoma: Molecular Subtypes, Drivers, and Beyond [J].

Garcia-Lopez, Jesus ;

Kumar, Rahul ;

Smith, Kyle S. ;

Northcott, Paul A. .

TRENDS IN GENETICS, 2021, 37 (03) :235-250

[7]

GORENSEK M, 1984, ENDOSCOPY, V16, P59, DOI 10.1055/s-2007-1018534

[8] The landscape of genomic alterations across childhood cancers [J].

Groebner, Susanne N. ;

Worst, Barbara C. ;

Weischenfeldt, Joachim ;

Buchhalter, Ivo ;

Kleinheinz, Kortine ;

Rudneva, Vasilisa A. ;

Johann, Pascal D. ;

Balasubramanian, Gnana Prakash ;

Segura-Wang, Maia ;

Brabetz, Sebastian ;

Bender, Sebastian ;

Hutter, Barbara ;

Sturm, Dominik ;

Pfaff, Elke ;

Huebschmann, Daniel ;

Zipprich, Gideon ;

Heinold, Michael ;

Eils, Jurgen ;

Lawerenz, Christian ;

Erkek, Serap ;

Lambo, Sander ;

Waszak, Sebastian ;

Blattmann, Claudia ;

Borkhardt, Arndt ;

Kuhlen, Michaela ;

Eggert, Angelika ;

Fulda, Simone ;

Gessler, Manfred ;

Wegert, Jenny ;

Kappler, Roland ;

Baumhoer, Daniel ;

Burdach, Stefan ;

Kirschner-Schwabe, Renate ;

Kontny, Udo ;

Kulozik, Andreas E. ;

Lohmann, Dietmar ;

Hettmer, Simone ;

Eckert, Cornelia ;

Bielack, Stefan ;

Nathrath, Michaela ;

Niemeyer, Charlotte ;

Richter, Gunther H. ;

Schulte, Johannes ;

Siebert, Reiner ;

Westermann, Frank ;

Molenaar, Jan J. ;

Vassal, Gilles ;

Witt, Hendrik ;

Burkhardt, Birgit ;

Kratz, Christian P. .

NATURE, 2018, 555 (7696) :321-+

[9]

Han SY, 2000, CANCER RES, V60, P3147

[10] A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children [J].

Hansen-Kiss, Emily ;

Beinkampen, Sarah ;

Adler, Brent ;

Frazier, Thomas ;

Prior, Thomas ;

Erdman, Steven ;

Eng, Charis ;

Herman, Gail .

JOURNAL OF MEDICAL GENETICS, 2017, 54 (07) :471-478

← 1 2 3 4 5 →