Cytogenetic studies of eight meningiomas in young children or adolescents were performed. Two tumors exhibited normal karyotypes. Two tumors from patients with bilateral acoustic neurofibromatosis demonstrated monosomy 22 as the only abnormality. Four patients had more complicated karyotypes in which one or both of the chromosomes 22 were missing or structurally altered. The most common secondary changes in these four tumors involved monosomy or structural abnormalities of chromosome 6. These findings confirm that the primary cytogenetic changes in meningioma are similar in children and adults. Molecular analyses of pediatric meningiomas with deletions or translocations of chromosome 22 will be useful for identifying the role of chromosome 22 tumor suppressor genes in this disease.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/gcc.2870090202 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Effect of testosterone treatment during puberty in boys with Klinefelter syndrome (The TIPY Study): protocol for a nationwide randomised, double-blinded, placebo-controlled study.
BMJ Open
March 2025
Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
Introduction: Klinefelter syndrome (KS) is a genetic condition characterised by the presence of an extra X chromosome in males (47,XXY). KS is associated with various phenotypic characteristics in adult life, including infertility, hypogonadism and increased risk of type II diabetes, cardiovascular disease and osteoporosis. Additionally, individuals with KS often experience mental health challenges and functional impairments that significantly impact their quality of life.
View Article and Find Full Text PDFDisorders of sex development (DSD) represent a group of congenital conditions in which there is a discrepancy between the chromosomal and (or) gonadal sex and the structure of the genitals. Within the DSD there is a subgroup of 46,XX testicular DSD (46,XX TDSD), which may be caused by the translocation of the SRY gene, and more rarely - due to other causes (SRY-negative forms). In this report, we present an observation of a patient with SRY-negative 46,XX TDSD, in whom the condition was initially regarded as a virile form of congenital adrenal hyperplasia, then as idiopathic intrauterine virilization in a girl.
View Article and Find Full Text PDFCongenital adrenal hyperplasia (CAH) is a defect in one of the enzymes or transport proteins involved in the synthesis of cortisol in the adrenal cortex. Virile form of CAH characterized by cortisol deficiency and hyperandrogenism. Klinefelter syndrome is one of the most frequent chromosomal diseases leading to the development of primary hypogonadism.
View Article and Find Full Text PDFCo-Occurrence of and Fusion in a Patient with Relapsed Acute B Lymphoblastic Leukemia.
Ann Clin Lab Sci
January 2025
Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA
B-cell acute lymphoblastic leukemias (B-ALLs) harbor recurrent chromosomal aberrations associated with prognostic and therapeutic significance. Although these major driver genetic abnormalities are generally mutually exclusive, they are rarely reported to co-occur. Here, we present the case of a child with B-ALL who suffered two relapses with short event-free intervals.
View Article and Find Full Text PDFResearch progress on estrogen and estrogen receptors in the occurrence and progression of autoimmune thyroid diseases.
Autoimmun Rev
March 2025
Department of Endocrinology, Shengjing Hospital of China Medical University, Shenyang, Liaoning Province, PR China. Electronic address:
Autoimmune thyroid disease (AITD) is a category of disease related to sex differences, with a significantly higher incidence in women than in men. In addition to X chromosome inactivation abnormalities, Estrogen and estrogen receptors may lead to the sex differences in AITD. Estrogen, estrogen receptors and estrogen receptor-mediated signaling pathways can affect the number and function of immune cells and the function of the thyroid to promote the development of AITD.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!