Deletion of the long arm of chromosome 13 (13q deletion syndrome) is very rare chromosomal aberration which causes mental retardation and multiple congenital malformations. Furthermore, it is associated with the increased risk of retinoblastoma. The aim of the paper was to present two cases of retinoblastomna in children with 13q deletion syndrome, discussing the diagnostic and therapeutic management, clinical manifestation and the importance of genetic testing which helps to determine the type of retinoblastoma and may also contribute to the diagnosis of other congenital abnormalities associated with intraocular tumors.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Mosaic chromosomal alterations (mCAs) in individuals with monoclonal B-cell lymphocytosis (MBL).
Blood Cancer J
November 2024
Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
Article Synopsis
- - MBL (monoclonal B-cell lymphocytosis) is linked to an increased risk of developing chronic lymphocytic leukemia (CLL), and this study explores the relationship between MBL and mosaic chromosomal alterations (mCAs), which are structural DNA changes that also elevate CLL risk.
- - Researchers analyzed data from over 4,600 individuals using flow cytometry to detect MBL and advanced DNA techniques to identify mCAs, revealing that mCAs are highly prevalent in those with MBL and CLL.
- - The findings show that individuals with high-count MBL have a significantly higher likelihood (881-fold) of harboring CLL-related mCAs compared to those without MBL, which could
Deletions Rate-Limit Breast and Ovarian Cancer Initiation.
bioRxiv
October 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Optimizing prevention and early detection of cancer requires understanding the number, types and timing of driver mutations. To quantify this, we exploited the elevated cancer incidence and mutation rates in germline and carriers. Using novel statistical models, we identify genomic deletions as the likely rate-limiting mutational processes, with 1-3 deletions required to initiate breast and ovarian tumors.
View Article and Find Full Text PDFComprehensive mutational profiling identifies new driver events in cutaneous leiomyosarcoma.
Br J Dermatol
October 2024
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Article Synopsis
- Cutaneous leiomyosarcoma (cLMS) is a rare skin tumor with smooth muscle differentiation, showing key genetic mutations in TP53 and RB1, along with copy number changes in other genes like MYCOD and IGF1R.
- This study aimed to thoroughly investigate the genetics of cLMS by analyzing a larger sample size (38 cases) using whole-exome and RNA sequencing, revealing significant recurrent mutations and potential environmental factors like UV exposure.
- Findings indicated critical genetic alterations, including various deletions and amplifications, highlighting the complexity of cLMS and emphasizing the need for extensive genetic analysis in rare tumors for better understanding and potential treatment options.
Next-Generation Integrated Sequencing Identifies Poor Prognostic Factors in Patients with MYD88-Mutated Chronic Lymphocytic Leukemia in Taiwan.
Pathobiology
October 2024
Division of Hematology-Oncology, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan.
Introduction: Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in the Western countries and is very rare in Asia.
Methods: Peripheral blood or bone marrow mononuclear cells obtained at initial diagnosis from 215 patients with CLL were analyzed by using next-generation sequencing to investigate the ethnic differences in genetic abnormalities.
Results: Whole-genome sequencing and whole-exome sequencing analyses on 30 cases showed that 9 genes, including IGLL5, MYD88, TCHH, DSCAM, AXDND1, BICRA, KMT2D, MYT1L, and RBM43, were more frequently mutated in our Taiwanese cohort compared with those of the Western cohorts.
Genomic alterations in retinoblastoma tumors of Argentine patients.
Ophthalmic Genet
December 2024
Department of Genetics, Pharmacy and Biochemistry Faculty, Hospital de Clínicas UBA INIGEM UBA CONICET, Buenos Aires, Argentina.
Introduction: Retinoblastoma is initiated by inactivation of gene, but additional alterations may be required for tumor progression. Substitution and INDEL variants in different genes, aside , are infrequent, while large copy number variants (CNVs) like gains on 1q, 2p, 6p and loss on 16q are common, they include oncogenes or tumor suppressors and are typical of retinoblastoma.
Aim: To provide the molecular profile that is useful for prognosis and understanding of retinoblastoma development.
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!