Rationale: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare clinical disease characterized by a disproportionate number of basal cell carcinoma to sun exposure and skin types. Patched 1 (PTCH1) gene is proposed to be implicated in the pathogenesis of NBCCS. This study aimed to investigate whether PTCH1 gene is the causative gene in Chinese patients with NBCCS.
Patient Concerns: Here we detected the first nonsense mutation in PTCH1 gene by Sanger sequencing of blood samples from a mother and her second daughter (NM000264: exon14: c.2080C>T: p.Q694X).
Diagnoses: Both of the mother and her second daughter had ovarian mature teratomas.
Interventions: The mother received liquid nitrogen cryotherapy, surgical resection, and radiation therapy, while her second daughter was treated with a GX-III multifunctional ion surgical therapy machine and surgery.
Outcomes: New rashes continued to appear and contractures of the right eyelid healed in the mother, while her second daughter had multiple pitting depressions on the palms and soles of both hands and feet.
Conclusion: We detected a new mutation in PTCH1 gene in 2 patients with NBCCS, and both of them had ovarian mature teratomas, which are related to NM000264: exon14: c.2080C>T: p.Q694X.
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http://dx.doi.org/10.1097/MD.0000000000040471 | DOI Listing |
Cell Signal
December 2024
Department of Gynaecology, the Second Hospital of Tianjin Medical University, 300211 Tianjin, China.. Electronic address:
Background: Endometrial cancer (EC) is a malignant tumor of the endometrial epithelium, with endometrial adenocarcinoma being the most common type. It has a good overall prognosis, but recurrence and metastasis are often associated with poorer outcomes. LLGL2 is closely linked to tumorigenesis; however, its in endometrial carcinoma is unknown.
View Article and Find Full Text PDFMedicine (Baltimore)
November 2024
Department of Dermatology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.
Cells
November 2024
Division of Biotechnologies, Italian National Agency for New Technologies, Energy and Sustainable Economic Development (ENEA), Via Anguillarese 301, 00123 Rome, Italy.
J Oral Pathol Med
November 2024
Department of Biochemistry, Tokyo Dental College, Chiyoda-ku, Tokyo, Japan.
Br J Dermatol
November 2024
Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Background: Patients with Gorlin (basal cell nevus) syndrome (GS) have numerous phenotypic abnormalities due to over-activity of the hedgehog (HH) signaling pathway, most commonly due to a heritable mutation in the PTCH1 gene, which encodes a major inhibitor of this pathway. HH inhibitors (HHi) taken orally can reverse some of the manifestations, most prominent of which is the development of numerous cutaneous basal cell carcinomas (BCCs). In order to improve the benefit:risk ratio, we have developed a gel containing a small cyclopamine-derived molecule that can be applied topically in expectation that this mode of delivery can reduce the burden of BCCs without producing the systemic adverse effects that cause patients to stop treatment with oral HHis.
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