Salivary gland tumors (SGTs) of parotid origin are a group of diverse neoplasms which are difficult to classify due to their rarity and similar morphologic patterns. Chromosome analysis can detect clonal abnormalities, and array comparative genomic hybridization (aCGH) analysis can define copy number alterations (CNAs) from tumor specimens. Of the 19 cases of various types of SGTs submitted for cytogenomic analyses, an abnormal clone was detected in nine cases (47%), and CNAs were detected in 14 cases (74%). Recurrent rearrangements involving the PLAG1 gene at 8q12, recurrent CNAs including deletions of 6q, 9p (CDKN2A), and 17p (TP53), loss of Y chromosome, and gain of chromosome 7 were defined from these cases. Combined karyotyping and aCGH analyses could improve diagnostic yield. Future study for more precisive correlation of SGT classification with cytogenomic abnormalities will facilitate better diagnosis and treatment.
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http://dx.doi.org/10.1155/2020/8897541 | DOI Listing |
Malays J Pathol
December 2024
Universiti Sains Malaysia, School of Medical Sciences, Human Genome Centre, Health Campus, Kelantan, Malaysia.
Multiple myeloma (MM), a clonal B-cell neoplasia, is an incurable and heterogeneous disease where survival ranges from a few months to more than 10 years. The clinical heterogeneity of MM arises from multiple genomic events that result in tumour development and progression. Recurring genomic abnormalities including cytogenetic abnormalities, gene mutations and abnormal gene expression profiles in myeloma cells have a strong prognostic power.
View Article and Find Full Text PDFEur J Med Genet
December 2024
Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.
View Article and Find Full Text PDFMagy Onkol
December 2024
Laboratóriumi Medicina Intézet, Debreceni Egyetem, Általános Orvostudományi Kar, Klinikai Genetikai Tanszék, Debrecen, Hungary.
In malignant hematological diseases, clonal genetic alterations, such as chromosomal aberrations and gene mutations, are responsible for the uncontrolled division of abnormal hemopoietic cells. The detection of clonal variants has not only diagnostic, but also prognostic and therapeutic significance. They enable risk-based differentiated treatment of patients and the use of targeted (genotype-specific) therapies.
View Article and Find Full Text PDFEpilepsy Behav
December 2024
Child Neurology, Epilepsy and Movement Disorders, Bambino Gesù, IRCCS Children's Hospital, Full Member of European Reference Network EpiCARE, Rome, Italy.
Background: This study evaluates the electroclinical features of infantile epileptic spasms syndrome (IESS) suddenly appearing in previously normal patients, aiming to describe clinical outcomes and independent predictors.
Method: We retrospectively selected a homogeneous group of patients with IESS from two Italian centers. All patients had normal development prior to IESS onset and a follow-up period lasting at least one year.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Optical genome mapping (OGM) is an emerging technology for the detection of genetic diseases based on physical mapping, which can detect numerical chromosomal abnormalities, copy number variation (CNV) and structural variation (SV) on a genome-wide scale. In recent years, a number of studies have proved that OGM, as a new generation of cytogenomic technique, has higher resolution and stronger ability to discover genomic variants compared with conventional genetic techniques. This article has systematically reviewed the principles, characteristics, advantages and limitations of OGM technology, and its applications in the diagnosis of genetic disorders.
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