HedgePath reports positive interim data from Phase IIb trial of SUBA-Itraconazole to treat Gorlin Syndrome

US-based, clinical stage biopharmaceutical company HedgePath (HPPI) has reported positive interim data from its Phase IIb clinical trial of SUBA-Itraconazole to treat basal cell carcinoma nevus syndrome (BCCNS), also known as Gorlin Syndrome.
Source: Drug Development Technology - Category: Pharmaceuticals Source Type: news

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Conclusions: It is possible that the biological behavior of OKCs may be related to the suprabasal proliferative compartment in the cystic epithelium as observed. These proteins may participate in the regulation of epithelial cell differentiation. Taken together, these data may favor tumerigenesis on OKCs.
Source: Journal of Oral and Maxillofacial Pathology - Category: ENT & OMF Authors: Source Type: research
Shikha Saxena, Krishna Sireesha Sundaragiri, Akshay Bhargava, Bharat SankhlaJournal of Oral and Maxillofacial Pathology 2020 24(2):315-321 Nevoid basal-cell carcinoma syndrome (NBCCS) or Gorlin–Goltz syndrome is an autosomal dominant-inherited condition that exhibits high penetrance and variable expressivity; however, this disorder can arise spontaneously. In 1960, Gorlin and Goltz described the syndrome as a condition, comprising the principle triad of multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. The diagnostic findings of NBCCS in four patients were studied and compared with othe...
Source: Journal of Oral and Maxillofacial Pathology - Category: ENT & OMF Authors: Source Type: research
Conclusions: It is possible that the biological behavior of OKCs may be related to the suprabasal proliferative compartment in the cystic epithelium as observed. These proteins may participate in the regulation of epithelial cell differentiation. Taken together, these data may favor tumerigenesis on OKCs.
Source: Journal of Oral and Maxillofacial Pathology - Category: ENT & OMF Authors: Source Type: research
Shikha Saxena, Krishna Sireesha Sundaragiri, Akshay Bhargava, Bharat SankhlaJournal of Oral and Maxillofacial Pathology 2020 24(2):315-321 Nevoid basal-cell carcinoma syndrome (NBCCS) or Gorlin–Goltz syndrome is an autosomal dominant-inherited condition that exhibits high penetrance and variable expressivity; however, this disorder can arise spontaneously. In 1960, Gorlin and Goltz described the syndrome as a condition, comprising the principle triad of multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. The diagnostic findings of NBCCS in four patients were studied and compared with othe...
Source: Journal of Oral and Maxillofacial Pathology - Category: ENT & OMF Authors: Source Type: research
The nevoid basal cell carcinoma syndrome (NBCCS) is a genetic disorder that affects the PTCH gene, which is highly associated with tumor suppression. It presents a case of NBCCS diagnosed in a 49-year-old Caucasian male. His medical history has shown a great number of surgical procedures for the removal of lesions that are common to the syndrome. One of the lesions was removed from the mandible and sent for biopsy. The patient was diagnosed by means of a jaw biopsy conducted by a buccomaxillofacial surgeon, and histopathologic sections showed a diagnosis of odontogenic keratocyst (OKC) and squamous cell carcinoma (SCC).
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tags: 20190763 Source Type: research
Conclusions: Podoplanin expression is different in lesions of different biological behaviors. Podoplanin seems to play a role in cell proliferation and migration.
Source: Applied Immunohistochemistry and Molecular Morphology - Category: Chemistry Tags: Research Articles Source Type: research
In this study, we generated iPSCs derived from fibroblasts of four patients with Gorlin syndrome (Gln-iPSCs) with heterozygous mutations of the PTCH1 gene. Gln-iPSCs from the four patients developed into medulloblastoma, a manifestation of Gorlin syndrome, in 100% (four out of four), of teratomas after implantation into immunodeficient mice, but none (0/584) of the other iPSC-teratomas did so. One of the medulloblastomas showed loss of heterozygosity in the PTCH1 gene while the benign teratoma, i.e. the non-medulloblastoma portion, did not, indicating a close clinical correlation between tumorigenesis in Gorlin syndrome pa...
Source: Aging - Category: Biomedical Science Authors: Tags: Aging (Albany NY) Source Type: research
Keratocystic odontogenic tumors (KCOTs) are locally aggressive odontogenic neoplasms with recurrence rates of up to 60%. Approximately 5% of KCOTs are associated with nevoid basal cell carcinoma (Gorlin) syndrome and 90% of these show genomic inactivation of the PTCH1 gene encoding Patched 1. Sporadic KCOTs reportedly have PTCH1 mutations in 30% of cases, but previous genomic analyses have been limited by low tumor DNA yield. The aim of this study was to identify recurrent genomic aberrations in sporadic KCOTs using a next-generation sequencing panel with complete exonic coverage of sonic hedgehog (SHH) pathway members PTC...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
Authors: Lear JT, Hauschild A, Stockfleth E, Squittieri N, Basset-Seguin N, Dummer R PMID: 32104037 [PubMed]
Source: Clinical, Cosmetic and Investigational Dermatology - Category: Dermatology Tags: Clin Cosmet Investig Dermatol Source Type: research
We report a familial case with a 9q22.3 microdeletion, manifesting with prenatal-onset overgrowth in a mother and post-natal overgrowth in her daughter. Although both were clinically diagnosed with NBCCS, they had characteristic features of 9q22.3 microdeletion, especially the daughter. Microarray comparative genomic hybridization analysis revealed a 4.0 Mb deletion of chromosome 9q22.3 in both individuals. Among the 11 reported patients of overgrowth and/or macrosomia, a 550 Kb region encompassing PTCH1, C9orf3, FANCC, and 5 miRNAs is the most commonly deleted region. The let-7 family miRNAs, which are involved divers...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
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