Medulloblastoma in a toddler with Gorlin syndrome.

We report a male toddler with multicentric posterior fossa tumor and calcifications along the falx cerebri, suggesting MB and GS. Pathology revealed nodular MB. His testing confirmed a germline SUFU mutation. His tumor resolved with three induction cycles of chemotherapy, but he died of respiratory failure due to infection at 20 months of age. Overlooking calcifications along the falx cerebri in children with MB can induce significant morbidity. PMID: 29706825 [PubMed]
Source: Baylor University Medical Center Proceedings - Category: Universities & Medical Training Authors: Tags: Proc (Bayl Univ Med Cent) Source Type: research

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Medulloblastoma is the most common childhood malignant brain tumor and is considered a minor criterion in the diagnosis of nevoid basal cell carcinoma syndrome (NBCCS). Metastasis of this primitive neuroectodermal tumor is commonly neuraxial; however, extra-neuraxial metastasis have been documented in the literature. Extra-neuraxial metastasis to the jaws is a rare occurrence with only eight cases previously described in the literature. This case documents a unique case of metastatic medulloblastoma to the mandible in a patient previously diagnosed with NBCCS.
Source: Journal of Oral and Maxillofacial Surgery - Category: ENT & OMF Authors: Tags: Case Report Source Type: research
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in thePTCH1 gene in chromosome 9q22, in thePTCH2 gene in 1p34, or theSUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery ...
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in thePTCH1 gene in chromosome 9q22, in thePTCH2 gene in 1p34, or theSUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery ...
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
Basal cell nevus syndrome (BCNS; Gorlin; Gorlin-Goltz) is a chronic genetic condition characterized by basal cell carcinoma (BCC) skin tumors and odontogenic jaw cysts before the age of 20 years, palmar/plantar pitting, brain calcifications, various skeletal and soft tissue abnormalities, and a high risk for developing medulloblastoma 1 –4. Surgical treatment of multiple BCC tumors, starting in childhood and often numbering into the hundreds over a lifetime, causes extensive scarring that can be highly debilitating both functionally and psychologically 5.
Source: Photodiagnosis and Photodynamic Therapy - Category: Laser Surgery Authors: Source Type: research
Authors: Skoda AM, Simovic D, Karin V, Kardum V, Vranic S, Serman L Abstract The Hedgehog (Hh) signaling pathway was first identified in the common fruit fly. It is a highly conserved evolutionary pathway of signal transmission from the cell membrane to the nucleus. The Hh signaling pathway plays an important role in the embryonic development. It exerts its biological effects through a signaling cascade that culminates in a change of balance between activator and repressor forms of glioma-associated oncogene (Gli) transcription factors. The components of the Hh signaling pathway involved in the signaling transfer t...
Source: Bosnian Journal of Basic Medical Sciences - Category: General Medicine Tags: Bosn J Basic Med Sci Source Type: research
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Source: Journal of the European Academy of Dermatology and Venereology - Category: Dermatology Authors: Tags: Letter to Editor Source Type: research
Ovarian tumors are rare in children and adolescents, with an incidence of approximately 2 per 100,000 girls. Specifically, ovarian fibromas represent only 4% of these tumors. Ovarian fibromas have been associated with a genetic syndrome called Gorlin syndrome, also known as Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome (NBCCS), and basal cell nevus syndrome (BCNS). This is a rare, autosomal-dominant, inherited mutation of the patched (PTCH) tumor-suppressor gene. Gorlin ’s syndrome consists of a constellation of symptoms including musculoskeletal abnormalities, dermatologic findings of multiple basal ce...
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Source Type: research
Brain morphology is tightly regulated by diverse signaling pathways. Hedgehog signaling is a candidate pathway considered responsible for regulating brain morphology. Nevoid basal cell carcinoma syndrome (NBCCS), caused by a PTCH1 mutation in the hedgehog signaling pathway, occasionally exhibits macrocephaly and medulloblastoma. Although cerebellar enlargement occurs in ptch1 heterozygous‐deficient mice, its impact on human brain development remains unknown. We investigated the brain morphological characteristics of children with NBCCS. We evaluated brain T1‐weighted images from nine children with NBCCS and 15 age‐ma...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
AbstractNevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of thepatched-1 (PTCH1) gene. To date, we have detected 73 mutations inPTCH1 and ten of them (14  %) were suspected splicing mutations. Eight out of the ten mutations were localized near the splice donor site. Five mutations were localized within the invariant GT-AG splice site, whereas the other five mutations occurred outside the invariant GT-AG site including the last exonic nucleotide. Whe n the transc...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
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...
Source: Cancer Research - Category: Cancer & Oncology Authors: Tags: Applied and Clinical Genomics Source Type: research
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