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Pediatric Central Nervous System Tumors as Phenotypic Manifestation of Cancer Predisposition Syndromes
Published in David A. Walker, Giorgio Perilongo, Roger E. Taylor, Ian F. Pollack, Brain and Spinal Tumors of Childhood, 2020
Giorgio Perilongo, Irene Toldo, Stefano Sartori
Medulloblastoma can be one of the clinical manifestations of the Gorlin syndrome, otherwise known as nevoid basal cell carcinoma syndrome. Gorlin syndrome is a rare autosomal disorder with complete penetrance and variable expression.5,6 Its incidence is estimated to vary between one case among every 60,000–160,000 individuals, without any sex predilection and with 20–50% of the cases being sporadic. This syndrome is a complex malformative cancer predisposition syndrome. Children bearing this condition typically present palmar pits (Figure 4.1) and may present with facial malformations, such as cleft palate/lip, frontal bossing, coarse face, and a varying degree of dental anomalies, macrocephaly, eye abnormalities, and cranial anomalies such as calcification of the falx and bridging of the sella. These patients may suffer also from a variety of non-CNS neoplasms, notably multiple basal cell carcinomas, odontogenic keratocysts, cardiac and ovarian fibromas.7 Up to 5% of patients with Gorlin syndrome develop medulloblastoma within the first 3 years of life.8 The desmoplastic (Figure 4.2) and in particular the extreme nodularity histological subtypes (Figure 4.3) are the typical variants of medulloblastoma occurring in these patients. Usually they have an off-midline location.
Skin cancer
Published in Peter Hoskin, Peter Ostler, Clinical Oncology, 2020
Genetic predisposition: Gorlin syndrome is a very rare, dominantly inherited syndrome predisposing to multiple BCCs and should be considered in all cases arising in those under 40 years of age. Palmar pits are characteristic but other features include bifid ribs, a calcified falx cerebri, frontal bossing of the skull and mandibular cysts.
Endocrine and reproductive disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Surveillance for tumours needs to be considered in this group of conditions, especially for Wilms tumour during early childhood in Beckwith-Wiedemann syndrome and for breast cancer in adult women with Cowden syndrome. Being alert to the risk of various types of malignancy is important also in Gorlin syndrome (varying with the gene involved).
Concurrent basal cell carcinoma and tarsal epithelial cyst as a presenting sign of Gorlin syndrome
Published in Orbit, 2023
Meleha Ahmad, Rupin Parikh, Charles Eberhart, Roxana Fu
A 43-year-old Caucasian female presented with bilateral painless, slowly-progressing lower eyelid lesions. Past medical history was significant for two basal cell carcinoma (BCC) resections on her right cheek in the past 15 years. External exam photos are shown in Figure 1A,B. Shave biopsy of the right lower eyelid lesion and full thickness wedge biopsy of the left lower eyelid lesion demonstrated nodular BCC and tarsal epithelial cyst (TEC), respectively (Figure 1C,D). On further review of her records, she was found to have a previously unreported history of odontogenic keratocysts removed by her dentist on three occasions. Based on this constellation of findings, she met criteria for Gorlin syndrome and was referred to dermatology for further management. Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is a genetic condition characterized by widespread systemic manifestations including odontogenic keratocysts, multiple BCCs at an early age, and various developmental abnormalities and tumors. Although not part of the formal diagnostic criteria, Gorlin syndrome has also been associated with eyelid TECs, benign tarsal lesions that mimic chalazia. Recognition of this syndrome is important because these patients require close dermatologic surveillance and may benefit from treatment with vismodegib for advanced or widespread BCCs.
Medulloblastoma in a toddler with Gorlin syndrome
Published in Baylor University Medical Center Proceedings, 2018
Mohamad G. Al-Rahawan, Sorleen Trevino, Roy Jacob, Jeffrey C. Murray, Mohamad M. Al-Rahawan
Medulloblastoma (MB) is the most common malignancy of the brain in children and can be triggered by predisposing syndromes.1 Advancements in understanding the genetic background of MB have helped in disease stratification and effective risk adoptive therapy.2 Gorlin syndrome (GS) is caused by autosomal dominant mutations in PTCH1, PTCH2, or SUFU. It is characterized by multiple basal cell carcinomas of the skin and other neoplasms and abnormalities.3 Most patients with GS have heterozygous germline mutations in PTCH1, and 5% of them develop childhood MB. However, those with SUFU-related GS have a much higher risk for MB.4 Mutations in SUFU are associated with nodular/desmoplastic subtype MB in the toddler years.4,5 Other characteristic findings in SUFU-related GS include falx calcifications, sensitivity to radiation and subsequent second primary tumors in the radiation fields, and a strong family predisposition.4,5
Topical hedgehog inhibitors for basal cell carcinoma: how far away are we?
Published in Expert Opinion on Pharmacotherapy, 2022
We read with great interest the article, ‘Advances in the drug management of basal cell carcinoma’ by Ramelyte et al [1]. The authors review the current treatment options and future directions for the management of basal cell carcinomas (BCCs), especially in cases that are difficult to treat [1,2]. . Gorlin syndrome (GS) presents with sometimes hundreds of BCCs [3], making surgical excision unfeasible due to sheer quantity and proximity to vital structures. Immunocompromised patients have also been shown to exhibit greater number of non-surgically eligible BCCs [4]. Elderly patients are also less likely to be surgical candidates due to delayed wound healing [5], increased infection rates, and decreased ability to tolerate surgery [6].