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Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review

BACKGROUND: Congenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by SUFU mutation. CLINICAL PRESENTATION: Medull...

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Autores principales: Chen, Yufan, Zhang, Haibo, Zhao, Yang, Ma, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603755/
https://www.ncbi.nlm.nih.gov/pubmed/36313636
http://dx.doi.org/10.3389/fonc.2022.988798
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author Chen, Yufan
Zhang, Haibo
Zhao, Yang
Ma, Jie
author_facet Chen, Yufan
Zhang, Haibo
Zhao, Yang
Ma, Jie
author_sort Chen, Yufan
collection PubMed
description BACKGROUND: Congenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by SUFU mutation. CLINICAL PRESENTATION: Medulloblastoma was detected in two brothers at 2 and 3 months of age, with very similar imaging features. Genetic testing revealed that both children and their mother carried SUFU gene germline mutations, and both brothers were diagnosed with Gorlin-Goltz syndrome. CONCLUSION: Gorlin-Goltz syndrome-associated congenital medulloblastoma with SUFU germline mutation is very rare. Pathological types mostly involve desmoplastic/nodular or extensive nodularity; chemotherapy is the main treatment, and studies revealing prognostic data are scarce.
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spelling pubmed-96037552022-10-27 Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review Chen, Yufan Zhang, Haibo Zhao, Yang Ma, Jie Front Oncol Oncology BACKGROUND: Congenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by SUFU mutation. CLINICAL PRESENTATION: Medulloblastoma was detected in two brothers at 2 and 3 months of age, with very similar imaging features. Genetic testing revealed that both children and their mother carried SUFU gene germline mutations, and both brothers were diagnosed with Gorlin-Goltz syndrome. CONCLUSION: Gorlin-Goltz syndrome-associated congenital medulloblastoma with SUFU germline mutation is very rare. Pathological types mostly involve desmoplastic/nodular or extensive nodularity; chemotherapy is the main treatment, and studies revealing prognostic data are scarce. Frontiers Media S.A. 2022-10-12 /pmc/articles/PMC9603755/ /pubmed/36313636 http://dx.doi.org/10.3389/fonc.2022.988798 Text en Copyright © 2022 Chen, Zhang, Zhao and Ma https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Chen, Yufan
Zhang, Haibo
Zhao, Yang
Ma, Jie
Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review
title Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review
title_full Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review
title_fullStr Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review
title_full_unstemmed Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review
title_short Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review
title_sort congenital medulloblastoma in two brothers with sufu-mutated gorlin-goltz syndrome: case reports and literature review
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603755/
https://www.ncbi.nlm.nih.gov/pubmed/36313636
http://dx.doi.org/10.3389/fonc.2022.988798
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