AI Article Synopsis
Article Abstract
Pilomatricoma, also known as 'calcifying epithelioma of Malherbe', is a common skin adnexal tumor that mimics hair growth. Its proliferating cells seem distinctly programmed to undergo terminal differentiation and death. We report the first cytogenetic investigations of pilomatricoma. Trisomy 18 was shown, in an index case, by G-banded karyotyping. This aberration was corroborated by interphase fluorescence in situ hybridization, using a chromosome 18 pericentromeric probe, in the basaloid epithelial component of 7 of 11 pilomatricomas, including the index case. Trisomy 18 was present in a small subset of cells, suggesting a role in pilomatricoma progression, rather than in tumor initiation. We conclude that trisomy 18 is a consistent feature in pilomatricoma, suggesting that genes carried on this chromosome, such as that for the antiapoptotic oncoprotein BCL2, may have a role in the growth and differentiation of this benign self-limited tumor.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/modpathol.2010.99 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Total cell N-glycosylation is altered during differentiation of induced pluripotent stem cells to neural stem cells and is disturbed by trisomy 21.
BBA Adv
December 2024
Genos Glycoscience Research Laboratory, 10000 Zagreb, Croatia.
Down syndrome (DS), a genetic condition caused by trisomy 21 (T21), manifests various neurological symptoms, including intellectual disability, early neurodegeneration, and early-onset dementia. N-glycosylation is a protein modification that plays a critical role in numerous neurobiological processes and whose dysregulation is associated with a range of neurological disorders. However, whether N-glycosylation of neural glycoproteins is affected in DS has not been studied.
View Article and Find Full Text PDFInherited Unbalanced Reciprocal Translocation with 18p11.32p11.21 Tetrasomy and 9q34.3 Trisomy in a Fetus Revealed by Cell-Free Fetal DNA (cffDNA) Testing: Cytogenetic and Cytogenomic Characterization in Prenatal Diagnosis.
Genes (Basel)
November 2024
AMES, Polidiagnostic Strumental Centre, Srl, 80013 Naples, Italy.
Article Synopsis
- - A 37-year-old woman with a balanced reciprocal translocation was found to have a high-risk non-invasive prenatal screening test indicating potential chromosome 18 abnormalities during her 13th week of pregnancy.
- - Advanced techniques including cytogenetic analysis, FISH, and SNP-array were used to analyze her amniotic cells, revealing duplications on chromosome 18 and chromosome 9, suggesting aneuploidies.
- - The study emphasizes the importance of using a combination of NIPT and detailed cytogenetic approaches to accurately detect and confirm chromosomal anomalies in high-risk pregnancies.
Family-Centered Antenatal Care With a Life-Limiting Fetal Condition: A Developmental Theory-Guided Approach.
J Midwifery Womens Health
December 2024
Trudy Busch Valentine School of Nursing, Saint Louis University, Saint Louis, Missouri.
Trisomy 18 (T18) is the second-most common autosomal trisomy and includes multiple anomalies, growth restriction, and a severely shortened life span, often lasting only hours or days. Côté-Arsenault and Denney-Koelsch extended Reva Rubin's work, describing the psychosocial stages of pregnancy by describing the stages and developmental tasks for a pregnancy altered by a life-limiting fetal condition such as T18. When a diagnosis of T18 is made prenatally, the pregnancy changes dramatically, although it remains a psychosocial developmental process.
View Article and Find Full Text PDFLow-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- Prenatal diagnosis of mosaic trisomy 21 was successfully performed on a 41-year-old woman during an amniocentesis, revealing a mix of normal and abnormal cells in the fetus due to a Robertsonian translocation.
- Despite initial concerns, subsequent tests showed significant normalization in fetal cells, leading to a reassuring outcome.
- At 38 weeks, the mother delivered a healthy baby with normal development, confirming that even low-level chromosomal abnormalities can result in positive pregnancy outcomes.
Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- A 36-year-old woman underwent amniocentesis during her pregnancy due to her age, revealing mosaic trisomy 21 with varying levels of affected cells.
- Despite the genetic abnormality, she was advised to continue with the pregnancy and delivered a healthy baby at 37 weeks.
- Follow-up tests showed that the baby exhibited low-level mosaicism for trisomy 21 but was normal in phenotype and development at 2 months old.
Want 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!