Objective: This study aimed to determine whether 3q26 gain can predict which low-grade squamous intraepithelial lesions (LSILs) and atypical squamous cells of undetermined significance (ASCUSs) will progress to higher-grade squamous intraepithelial lesion (HSIL).
Methods: Liquid cytology specimens of LSIL and ASCUS from 73 women were examined using fluorescent in situ hybridization (FISH) for the detection of 3q26 gain. All women underwent colposcopy and biopsy at the initial visit and 40 of them with histology showing cervical intraepithelial neoplasia 1 (CIN 1) or human papillomavirus infection (koilocytosis) were included in the study. They were reevaluated with liquid cytology, colposcopy, and biopsy after a median follow-up of 17.5 months.
Results: A total of 40 cases were analyzed (31 LSILs and 9 ASCUSs). Of these cases, 8 (20%; 6 LSILs and 2 ASCUSs) were positive and 32 (80%) were negative for 3q26 gain according to FISH. Three of the 8 positive women (38%) progressed to HSIL/CIN 2 or worse, whereas none of the 32 negative women did so. 3q26 gain could predict progression with a negative predictive value of 100% (95% confidence interval, 89.1%-100%). In addition, women positive for 3q26 gain had a significantly lower regression rate compared with negative women (P = 0.009).
Conclusions: In this first prospective study, 3q26 gain in LSIL/ASCUS cytology exhibited an impressive negative predictive value for progression to HSIL/CIN 2 or worse. Thus, 3q26 gain may be useful in stratifying patients' risk for progression and possibly alter management and reduce cost of follow-up.
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http://dx.doi.org/10.1097/IGC.0b013e31825104bd | DOI Listing |
J Acquir Immune Defic Syndr
June 2024
Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Background: People living with HIV (PLWH) have substantially increased incidence of anal precancer and cancer. There are very little data regarding genomic disturbances in anal precancers among PLWH. In this study, specific chromosomal variants were identified in anal squamous intraepithelial lesions.
View Article and Find Full Text PDFJ Assoc Genet Technol
January 2023
Baylor Scott and White Health System, Department of Pathology, Temple, TX, USA.
We present a case study of a 73-year-old female with a history of pancytopenia. The bone marrow core biopsy was suggestive of a myelodysplastic syndrome, unspecified (MDS-U). Chromosomal analysis of the bone marrow revealed an abnormal karyotype including gain of chromosomes 1, 4, 6, 8, 9, 19, and 20 in addition to loss of chromosomes 11, 13, 15, 16, 17, and 22.
View Article and Find Full Text PDFNeuro Oncol
February 2022
Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Background: Telomere maintenance is increasingly recognized as being fundamental to glioma oncogenesis with longer leukocyte telomere length (LTL) reported to increase risk of glioma. To gain further insight into the relationship between telomere genetics and risk of glioma, we conducted several complementary analyses, using genome-wide association studies data on LTL (78 592 individuals) and glioma (12 488 cases and 18 169 controls).
Methods: We performed both classical and summary Mendelian randomization (SMR), coupled with heterogeneity in dependent instruments tests, at genome-wide significant LTL loci to examine if an association was mediated by the same causal variant in glioma.
BMC Med Genomics
June 2021
Department of Cell Biology and Genetics, School of Pre-Clinical Medicine, Guangxi Medical University, Nanning, Guangxi, People's Republic of China.
Background: Oligonucleotide array comparative genomic hybridization (aCGH) analysis has been used for detecting somatic copy number alterations (CNAs) in various types of tumors. This study aimed to assess the clinical utility of aCGH for cases of hepatocellular carcinoma (HCC) and to evaluate the correlation between CNAs and clinicopathologic findings.
Methods: aCGH was performed on 75 HCC cases with paired DNA samples from tumor and adjacent nontumor tissues.
J Clin Pathol
April 2022
University of Coimbra, Cytogenetics and Genomics Laboratory, Institute of Cellular and Molecular Biology, Faculty of Medicine, Coimbra, Portugal
Aims: Cholangiocarcinoma (CC) is a rare tumour arising from the biliary tract epithelium. The aim of this study was to perform a genomic characterisation of CC tumours and to implement a model to differentiate extrahepatic (ECC) and intrahepatic (ICC) cholangiocarcinoma.
Methods: DNA extracted from tumour samples of 23 patients with CC, namely 10 patients with ECC and 13 patients with ICC, was analysed by array comparative genomic hybridisation.
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