Several different clonal abnormalities in both hypo- and hyperdiploid cell lines were observed in tumor cells of a 35-year-old man with a syncytial meningioma. A translocation involving chromosomes 3 and 9, t(3;9)(q13.3;q22), was present in all analyzable tumor cells and proved to be constitutional. The breakpoints 3q13.3 and 9q22 are involved in acquired karyotypic abnormalities in a number of tumors and might be situated near a tumor suppressor gene. The development of malignancies has been observed in patients with constitutional translocations involving 3q13.3 but not 9q22. We conclude that translocations involving 3q13.3 and maybe 9q22 could present constitutional chromosomal abnormalities predisposing for the development of a malignancy. Patients in whose tumor cells a translocation involving 3q13.3 or 9q22 is observed should be checked for a similar constitutional abnormality.
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http://dx.doi.org/10.1016/s0165-4608(97)00480-9 | DOI Listing |
Rare Tumors
October 2024
Plastic Surgery, Affiliated Hospital of Qingdao University, Qingdao, China.
Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by a diverse clinical presentation, which includes developmental abnormalities and tumorigenesis that can impact multiple organ systems. Basal cell carcinoma is the most common and characteristic clinical presentation in patients with NBCCS. There are three identified causative genes for this disease, the PTCH1 gene located at 9q22-31, the PTCH2 gene at 1p32-34, and the SUFU gene at 10q24.
View Article and Find Full Text PDFAm J Med Genet A
October 2024
College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Gorlin syndrome can be caused by pathogenic/likely pathogenic (P/LP) variants in the tumor suppressor gene PTCH1 (9q22.1-q31), which encodes the receptor for the sonic hedgehog (SHH) ligand. We present a 12-month-old boy clinically diagnosed with Gorlin syndrome who was found to have significantly delayed development, palmar pitting, palmar and plantar keratosis, short hands, frontal bossing, coarse face, hypertelorism, a bifid rib, misaligned and missing teeth, and SHH-activated medulloblastoma.
View Article and Find Full Text PDFAm J Case Rep
March 2024
Department of Pediatrics, Ministry of National Guard Health Affairs, Dammam, Saudi Arabia.
BACKGROUND Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding transient receptor potential melastatin 6 (TRPM6)) on chromosome 9q22, a channel involved in epithelial magnesium resorption. While a plethora of studies have delineated various clinical manifestations pertinent to this mutation, the literature is devoid of connections between TRPM6 mutations and bleeding diathesis, or sudden infant death syndrome (SIDS). This report presents a case of familial HSH associated with the novel homozygous TRPM6 gene variant c.
View Article and Find Full Text PDFIntegr Cancer Ther
March 2024
Dunsan Korean Medicine Hospital of Daejeon University, Daejeon, Republic of Korea.
Background: In the era of precision medicine, individual temperature sensitivity has been highlighted. This trait has traditionally been used for cold-heat pattern identification to understand the inherent physical characteristics, which are influenced by genetic factors, of an individual. However, genome-wide association studies (GWASs) on this trait are limited.
View Article and Find Full Text PDFPeerJ
February 2024
Department of Epidemiology and Biostatistics, Key Laboratory of Molecular Cancer Epidemiology, Key Laboratory of Prevention and Control of Human Major Diseases, Ministry of Education, Tianjin's Clinical Research Center for Cancer, National Clinical Research Center for Cancer, Tianjin Medical University Cancer Institute and Hospital, Tianjin Medical University, Tianjin, China.
Ovarian cancer is a complex polygenic disease in which genetic factors play a significant role in disease etiology. A genome-wide association study (GWAS) identified a novel variant on chromosome 9q22.33 as a susceptibility locus for epithelial ovarian cancer (EOC) in the Han Chinese population.
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