We report the case of a 62-year-old man who presented with splenomegaly, leukocytosis, anemia, and thrombocytopenia. Examination of the peripheral blood, bone marrow, and spleen revealed involvement by mantle cell lymphoma, with some blastoid features and an atypical phenotype. Spleen and bone marrow classical chromosome analysis followed by fluorescence in situ hybridization revealed a novel and unusual unbalanced variant of the t(11;14)(q13;q32) translocation, resulting in a complex derivative chromosome harboring the IGH/CCND1 fusion gene. This chromosome was designated as der(14)t(11;14)(q13;q32)t(11;14)(p11.1;p11.2).
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.cancergencyto.2006.09.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Deciphering new insights into copy number variations as drivers of genomic diversity and adaptation in farm animal species.
Gene
December 2024
Division of Animal Genetics, ICAR-Indian Veterinary Research Institute, Izatnagar, Bareilly, Uttar Pradesh 243122, India.
The basis of all improvement in (re)production performance of animals and plants lies in the genetic variation. The underlying genetic variation can be further explored through investigations using molecular markers including single nucleotide polymorphism (SNP) and microsatellite, and more recently structural variants like copy number variations (CNVs). Unlike SNPs, CNVs affect a larger proportion of the genome, making them more impactful vis-à-vis variation at the phenotype level.
View Article and Find Full Text PDF[Statistical methods for extremely unbalanced data in genome-wide association study (1)].
Zhonghua Liu Xing Bing Xue Za Zhi
November 2024
Department of Biostatistics, School of Public Health, Nanjing Medical University, Nanjing211166, China National International Science and Technology Cooperation Base, Nanjing Medical University, Nanjing211166, China.
Extremely unbalanced data here refers to datasets where the values of independent or dependent variables exhibit severe unbalance in proportions, such as extremely unbalanced case-control ratio, very low incidence rate of disease, heavily censored time-to-event data, and low-frequency or rare variants. In such scenarios, the statistic derived from hypothesis test using the classical statistical method, e.g.
View Article and Find Full Text PDFThe Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments.
Medicina (Kaunas)
October 2024
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Recurrent pregnancy loss (RPL) is a multifactorial condition, encompassing genetic, anatomical, immunological, endocrine, as well as infectious and environmental factors; however, the etiology remains elusive in a substantial number of cases. Genetic factors linked to RPL include parental karyotype abnormalities (e.g.
View Article and Find Full Text PDFDe Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.
Am J Med Genet A
November 2024
Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.
Marfan syndrome (MFS) is a well-characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single-nucleotide variants (SNVs) in the FBN1 gene (MIM#134797) located on chromosome 15q21.1.
View Article and Find Full Text PDFA cross-sectional study of physiologic volar melanotic macules: Demographic, historical, clinical, and dermatoscopic features of a common yet neglected pigmentary variant in individuals with skin of color.
J Am Acad Dermatol
November 2024
Department of Dermatology, Beth Israel Deaconess Medical Center, Boston, Massachusetts; Department of Dermatology, Harvard Medical School, Boston, Massachusetts. Electronic address:
Background: Physiologic volar melanotic macules (P-VMM) are understudied. Trauma has been suggested as a predisposing factor. Little has been published over the last several decades.
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!