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(searched for: Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children)
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S. Binsheikhan, S. Mittal, M. Al Abadie
European Journal of Medical and Health Sciences, Volume 3, pp 15-17; https://doi.org/10.24018/ejmed.2021.3.5.888

Abstract:
Introduction: Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCC) at a young age. Case report: A 7 year female child presented with MULTIPLE skin growths on the neck, face and upper chest for 3 years, with prominent forehead and mild non-scarring alopecia. She also had a history of medulloblastoma treated 3 years ago. There was no significant family history. Biopsy from one of the lesions showed basal cell carcinoma (BCC). Discussion: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder caused by mutations in the tumour suppressor patched 1 (PTCH-1) gene. Patients present with both cutaneous and extra-cutaneous manifestations. Multiple basal cell carcinomas (BCCs) are one of the most frequent cutaneous manifestations, occurring on both photo-exposed and non-exposed areas. The commonest extra-cutaneous tumours are medulloblastomas, which are often the first presentation of the disease. There are multiple but no established treatment modalities for the disease.
Fernanda Brasil Daura Jorge Boos Lima, Ana Paula Cota Viana, Luciano Henrique Ferreira Lima, , Carlos Eduardo Assis Dutra, Glaykon Alex Vitti Stabile, Sergio Monteiro Lima Junior
Published: 23 December 2019
Case Reports in Dentistry, Volume 2019, pp 1-5; https://doi.org/10.1155/2019/1608783

Abstract:
The Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome is an autosomal dominant condition disorder with high variability expression. It presents a series of relevant clinical manifestations that suggest its diagnosis in cutaneous, bone, dental, soft tissue, nervous, and ocular system disorders. This condition requires a great interaction of several specialists to improve the patient’s life. In this case, we presented a 9-year-old male patient referred to the Department of Oral and Maxillofacial Surgery reporting failure in the normal chronology of dental eruption. After evaluation, it was observed that the patient had 13 typical characteristics of the syndrome, including keratocysts, bifid ribs, palmoplantar pits, and 10 other minor characteristics. In conclusion, the expression of so many features of Gorlin-Goltz syndrome is rare in infants, and early diagnosis is important to decrease morbidity and mortality associated with basal cell carcinomas.
Published: 6 September 2019
SN Comprehensive Clinical Medicine, Volume 1, pp 928-930; https://doi.org/10.1007/s42399-019-00143-9

Abstract:
Gorlin syndrome (nevoid basal cell carcinoma syndrome) is a rare disorder hallmarked by multiple basal cell skin cancers. While most cases involve inheritance from affected parents, up to 40% of mutations leading to the disease arise from de novo mutations in the individual. In this case study, a woman with a clinical diagnosis of Gorlin Syndrome undergoes genetic testing to identify a possible causative mutation for which her children could be tested for carrier status.
, , Toshiyuki Miyashita, , , Naoki Shimojo
American Journal of Medical Genetics Part A, Volume 173, pp 946-952; https://doi.org/10.1002/ajmg.a.38115

The publisher has not yet granted permission to display this abstract.
Michael F. Walsh, Megan Harlan, Jennifer Kennedy, Jacob Musinsky, Michael Laquaglia, Zsofia Stadler, Stephan Gilheeney, Kenneth Offit
Applied and Clinical Genomics, Volume 76; https://doi.org/10.1158/1538-7445.pedca15-a45

Abstract:
The heritable basis of medulloblastoma is largely unknown. Genes in DNA stability (BRCA1/2), DNA damage (TP53), Sonic Hedgehog-Patched-Gli signaling (PTCH1, SUFU) and WNT signaling pathways (APC) when mutated predispose to brain tumor development. Identification of syndromic stigmata identified before the evolution of malignancy provides an opportunity for screening and family planning. However, given the rarity of these syndromes, incomplete genotype/phenotype description and variable penetrance, outcome data and recommendations founded on expansive evidence are lacking. Gorlin syndrome (OMIM: 109400) is a phakomatosis distinguished by multiple jaw keratinocytes, basal cell carcinomas, macrocephaly, bossing of the forehead, coarse facial features, and milia. Other features described include skeletal anomalies, ectopic calcification in the falx, cardiac and ovarian fibromas, and primitive neuroectodermal tumors. Moreover, patients are exquisitely sensitive to radiation and sun exposure. Mutations in PTCH1 and SUFU underpin Gorlin syndrome or Nevoid Basal Cell Carcinoma Syndrome. Here we describe a 9 year-old female with a history of desmoplastic medulloblastoma, ovarian fibrothecoma and meningioma. The child's treatment to date has included chemotherapy, autologous stem cell transplantation, and intrathecal chemotherapy for her brain tumor and surgical resection of her ovarian tumors. The patient's family history was salient for a paternal aunt diagnosed with a meningioma at 18 years of age and paternal grandfather diagnosed with leukemia in his late 50s. Diagnosis of desmoplastic medulloblastoma at age 3 years and having a family history young onset meningioma, Gorlin syndrome was queried and prompted PTCH1 and SUFU molecular genetic testing. Testing revealed a novel heterozygous germline SUFU mutation, c.1023-2A>T mutation predicted to lead to aberrant splicing and a heterozygous germline PTCH1, c_6_-4delGGC, pre-coding variant of uncertain significance. The SUFU mutation segregated on the paternal side consistent with the family history. A familial exome analysis is underway in efforts to understand disease penetrance in this family. At present, in the absence of guidelines differentiating screening for individuals with SUFU vs. PTCH1 mutations, family members harboring the SUFU mutation are being surveyed with Gorlin syndrome recommendations and increased neuroimaging. Given limited remaining therapeutic options, if the proband is judged to require adjuvant treatment in the future, targeted molecular agents against smoothened (SMO) with vismodegib which has been shown to be an effective therapeutic intervention for patients with PTCH1 mutations are potential considerations. In conclusion, utilizing genomic sequencing we have detected a novel SUFU mutation in a child with multiple cancers and family history consistent with mutations in the Sonic Hedgehog-Patched-Gli pathway. In the absence of genotype/phenotype specific guidelines, Gorlin syndrome recommendations including intensive brain MRI are being followed and given the paucity of data related to outcome for targeted therapies in children with pathogenic SUFU mutations further investigations are warranted. Citation Format: Michael F. Walsh, Megan Harlan, Jennifer Kennedy, Jacob Musinsky, Michael LaQuaglia, Zsofia Stadler, Stephan Gilheeney, Kenneth Offit. Novel SUFU splice mutation in a child with multiple tumors. []. In: Proceedings of the AACR Special Conference on Advances in Pediatric Cancer Research: From Mechanisms and Models to Treatment and Survivorship; 2015 Nov 9-12; Fort Lauderdale, FL. Philadelphia (PA): AACR; Cancer Res 2016;76(5 Suppl): nr A45.
, Adam Kaplan, George Obeid,
Published: 14 November 2012
Pediatric Radiology, Volume 43, pp 620-627; https://doi.org/10.1007/s00247-012-2516-x

The publisher has not yet granted permission to display this abstract.
Shobhan Vachhrajani, Michael D. Taylor
Published: 1 January 2010
Oncology of CNS Tumors pp 513-523; https://doi.org/10.1007/978-3-642-02874-8_36

Abstract:
After hematological malignancies, central nervous system (CNS) tumors comprise the most common cancers in children and are the most common solid malignancy in this age group. Of these, medulloblastoma is the most common malignant pediatric brain tumor, accounting for up to 25% of all tumors in this group [1]. Although medulloblastoma has been diagnosed in all age groups, including fetuses in utero and in octogenarians, the majority of cases present between 5 and 10 years of age with a peak incidence at 7 years of age [1, 2]. There does appear to be a slight gender predilection, with most case series reporting a 1.8:1 ratio in favor of males [1]. Most cases are sporadic, although several familial tumor syndromes have been associated with medulloblastoma, including Gorlin syndrome, Rubenstein—Taybi syndrome, Li—Fraumeni syndrome, ataxia-telangiectasia, Turcot syndrome, neurofibroma-tosis, and tuberous sclerosis [3]. The term medullo-blastoma dates back to 1925 when it was coined by Bailey and Cushing to describe distinct, midline, highly malignant cerebellar tumors [4]. They had postulated that medulloblastoma tumor cells resembled cells of the developing neural tube. Decades later, their hypothesis is still proving insightful [4, 5]. Today, medulloblastoma is classified by the WHO as a distinct embryonal tumor of the cerebellum [6].
Adekunle M. Adesina, J. Hunter
Published: 23 October 2009
Atlas of Pediatric Brain Tumors pp 75-93; https://doi.org/10.1007/978-1-4419-1062-2_7

The publisher has not yet granted permission to display this abstract.
Jerry M. Rice
Journal of Radiation Research, Volume 47; https://doi.org/10.1269/jrr.47.b1

Abstract:
Tumors of the nervous system most often occur in both children and adults as sporadic events with no family history of the disease, but they are also among the clinical manifestations of a significant number of familial cancer syndromes, including familial retinoblastoma, neurofibromatosis 1 and 2, tuberous sclerosis, and Cowden, Turcot, Li-Fraumeni and nevoid basal cell carcinoma (Gorlin) syndromes. All of these syndromes involve transmissible genetic risk resulting from loss of a functional allele, or inheritance of a structurally defective allele, of a specific gene. These genes include RB1, NF1, NF2, TSC1, TSC2, TP53, PTEN, APC, hMLH1, hPSM2, and PTCH, most of which function as tumor suppressor genes. The same genes are also observed in mutated and inactive forms, or are deleted, in tumor cells in sporadic cases of the same tumors. The nature of the mutational events that give rise to these inactivated alleles suggests a possible role of environmental mutagens in their causation. However, only external ionizing radiation at high doses is clearly established as an environmental cause of brain, nerve and meningeal tumors in humans. Transplacental carcinogenesis studies in rodents and other species emphasize the extraordinary susceptibility of the developing mammalian nervous system to carcinogenesis, but the inverse relationship of latency to dose suggests that low transplacental exposures to genotoxicants are more likely to result in brain tumors late in life, rather than in childhood. While not all neurogenic tumor-related genes in humans have similar effects in experimental rodents, genetically engineered mice (GEM) increasingly provide useful insights into the combined effects of multiple tumor suppressor genes and of gene-environment interactions in the genesis of brain tumors, especially pediatric brain tumors such as medulloblastoma.
, Ina Hess, , Heidi Hahn
International Journal of Oncology, Volume 25, pp 113-120; https://doi.org/10.3892/ijo.25.1.113

Abstract:
Medulloblastoma (MB) is a highly malignant embryonal tumor of the cerebellum with a preferential manifestation in children. Although the majority of MBs occur sporadically, this tumor is also associated with familial cancer syndromes including the nevoid basal cell carcinoma or Gorlin syndrome. Mutations in the tumor suppressor gene PATCHED 1 (PTCH1) have been described in both familial and sporadic cases and inactivation of one Patched 1 (Ptch1) allele in mice promotes development of MB. In order to determine candidate genes involved in tumorigenesis of MB, we have screened tumors of heterozygous Ptch1 mice for differentially expressed genes by means of cDNA microarray technology. Our data show that genes involved in cell cycle, signal transduction and metastasis are transcriptionally up-regulated in MB compared to normal cerebellum. Gene ontology analysis reveals cell cycle regulators to be the predominant functional gene class altered in MB of Ptch1 mutants, including D-type cyclins and cyclin-dependent kinase 4. We furthermore describe that overexpression of the growth arrest and DNA-damage-inducible gene Gadd45a is common in Ptch1-associated tumors and Ptch1 null embryos. These results suggest that cDNA microarray technology is a useful tool to discover genes involved in the development of MB that arise in response to a persistent activation of sonic hedgehog (Shh) signaling. This approach may provide novel data for diagnosis, treatment and prevention of human PTCH1-related malignancies.
Seyed F. A. Amlashi, , Gilles Brassier,
Published: 18 July 2003
Cancer, Volume 98, pp 618-624; https://doi.org/10.1002/cncr.11537

The publisher has not yet granted permission to display this abstract.
Heidi Hahn, Leszek Wojnowski, Anne M. Zimmer, Jennifer Hall, Georgina Miller, Andreas Zimmer
Published: 1 May 1998
Nature Medicine, Volume 4, pp 619-622; https://doi.org/10.1038/nm0598-619

The publisher has not yet granted permission to display this abstract.
Andrew W. Walter, Eniko K. Pivnick, Allen E. Bale, Larry E. Kun
Journal of Pediatric Hematology/Oncology, Volume 19, pp 258-262; https://doi.org/10.1097/00043426-199705000-00016

Abstract:
We report that patients with nevoid basal cell carcinoma syndrome (Gorlin syndrome) are at risk for developing neoplasms, especially basal cell carcinomas and rarely medulloblastoma. A case report is presented of a 5-year-old child with medulloblastoma and multiple basal cell carcinomas who was diagnosed with nevoid basal cell carcinoma syndrome. Genetic analyses were performed on tumor DNA from the patient's medulloblastoma and basal cell carcinoma as well as germline DNA from the patient and unaffected family members. After radiation therapy for medulloblastoma, the patient developed thousands of additional basal cell carcinomas. Analysis of tumor DNA revealed the characteristic defect of nevoid basal cell carcinoma syndrome, loss of heterozygosity at 9q22. Photodynamic therapy was successfully used to control the majority of her cutaneous tumors. DNA analysis confirmed the presence of the distinctive genetic lesion of nevoid basal cell carcinoma syndrome in both medulloblastoma and basal cell carcinoma. Omitting or limiting radiation therapy for children with nevoid basal cell carcinoma syndrome and medulloblastoma should be considered.
, R B Jenkins, L Frederick, D Hebrink, B Alderete, D W Fults, C D James
Published: 1 March 1997
Cancer Research, Volume 57

The publisher has not yet granted permission to display this abstract.
Wolfgang Küster, Rudolf Happle
The Journal of Pediatrics, Volume 5, pp 436-440; https://doi.org/10.1097/00008480-199308000-00011

Abstract:
Neurocutaneous syndromes are disorders with cutaneous and neurologic anomalies. Some of these disorders are hereditary. This review summarizes the advances in this field and the recent results obtained in clinical and scientific research on the following syndromes: neurofibromatosis type 1, tuberous sclerosis, Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome), Sjögren-Larsson syndrome, trichothiodystrophy, incontinentia pigmenti, CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, Menkes' syndrome, encephalocraniocutaneous lipomatosis, Proteus syndrome, Sturge-Weber syndrome, and so-called hypomelanosis of Ito.
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