Plasma Cell Neoplasms
Wojciech Gorczyca in Atlas of Differential Diagnosis in Neoplastic Hematopathology, 2014
Patients with newly diagnosed myeloma with amp(1q21) had inferior 5-year event-free and overall survival compared with those lacking amp(1q21), and in a multivariate analysis, amp(1q21) was an independent poor prognostic factor [44]. In a microarray analysis of 532 newly diagnosed patients with myeloma reported by Shaughnessy et al. [107], 70 genes were linked to early disease-related death, many of them located on chromosome 1: ~50% of 19 underexpressed genes and 30% of 51 overexpressed genes were derived from chromosomes 1p and 1q, respectively. The molecular data suggest that alterations in the chromosome 1 may play a role in disease evolution by providing a growth and/or survival advantage [95,107]. Two recent series have failed to confirm the overriding negative prognostic association with chromosome 1 amplification detected by FISH [2,108].
Hepatic tumors
Prem Puri in Newborn Surgery, 2017
Cytogenetic analyses of HBs have shown recurring patterns of chromosomal abnormalities. The most common involve trisomies, particularly of chromosomes 2, 8, and 20, among others.94 Numerical aberrations as well as unbalanced translocations involving the proximal region of chromosome 1q are characteristic of HB.112 More specifically, bands 1q12-21 have been described as a location of recurring translocations in HB and were found in 20 of 55 patients in a series of HBs.113 The NOTCH2 gene, which encodes a transmembrane receptor critical to the development of the liver, also on chromosome 1, has been shown to have aberrant overexpression in 92% of HB cases, suggesting its role in HB pathogenesis by wrongly maintaining hepatoblast populations.112,114
Genetics and exercise: an introduction
Adam P. Sharples, James P. Morton, Henning Wackerhage in Molecular Exercise Physiology, 2022
Chromosomes have two arms and a central constriction which is termed the centromere. The short arm of a chromosome is denoted as p and the long arm as q. Each arm of the chromosome is subdivided into regions numbered consecutively from the centromere to the telomere which is the tip of each chromosome arm. Each band (i.e. the dark and light stripes of a chromosome seen in Figure 3.5) within a given region is identified by a number. With this nomenclature, it is possible to specify any chromosomal region by its “cytological address”. For example, chromosome 1 is composed of about 249 million (mega, M) DNA base pairs (Figure 3.6). 1p22 refers to chromosome 1, p arm, region 2, band 2. Since the sequence of the DNA bases of the entire human genome is now available, it is possible to specify a physical position on a given human chromosome in terms of the exact base number in a sequence ranging from one to millions. For instance, there are 4,300 genes encoded on chromosome 1. The gene KIF1B which encodes kinesin family member 1B codes for a motor protein that transports vesicles within cells. It is located on 1p36.22 and extends from 10.21 to 10.38 M bases of DNA.
Chromosomal 1q21 abnormalities in multiple myeloma: a review of translational, clinical research, and therapeutic strategies
Published in Expert Review of Hematology, 2021
Kamlesh Bisht, Brian Walker, Shaji K. Kumar, Ivan Spicka, Philippe Moreau, Tom Martin, Luciano J. Costa, Joshua Richter, Taro Fukao, Sandrine Macé, Helgi van de Velde
The exact mechanism underlying the accumulation of copy number alterations in 1q21+ MM and their role in driving aggressive disease are starting to be elucidated [9]. In the late 1990s, Sawyer and colleagues elegantly showed that 1q21+ is brought about by duplications of all or part of chromosome 1q, whole-arm jumping translocations of 1q (JT1q), and trisomy of chromosome 1 [43]. Recurring JT1q were detected on chromosomes 5, 8, 12, 14, 16, 17, 19, 21, and 22 [43]. The primary mechanism of 1q21 amplification is JT1q12 [44,45]. The event initiating instability of chromosome 1 is postulated to be de-condensation of the peri-centromeric heterochromatin, which facilitates recombination and formation of unstable 1q translocations [43,46]. In particular, pericentromeric weakness of the 1q12 region, which lies adjacent to 1q21, results in JT1q and segmental duplications of 1q21 [31,47]. Segmental duplications can occur when 1q jumps to a nonhomologous chromosome followed by, either, 1q12–1q21 segment duplication or duplication of the proximal adjacent nonhomologous chromosome segment prior to 1q jumping or inserting itself into a new location [31].
Identification of long noncoding RNA NEAT1 as a key gene involved in the extramedullary disease of multiple myeloma by bioinformatics analysis
Published in Hematology, 2023
Ting Chen, Zhengxu Sun, Yunqi Cui, Jiamei Ji, Yating Li, Xiaoyan Qu
Several comprehensive studies of myeloma genomes confirmed the heterogeneity of myeloma tumors and identified potential pathways and mutations for further investigation [19]. The common mutations accompanying progression include multiple chromosomal losses [10,11] including deletion of RB112-14 and TP53 and amplification of chromosome 1q [20]. In this study, we found that the expression level of NEAT1 was positively correlated with the gain of chromosome 1q and treatment response, respectively. NEAT1 upregulation might evolve from premalignant stages (such as MGUS) and progress to symptomatic MM and PCL. Strikingly, NEAT1 presented excellent value in distinguishing EMD patients from MM patients without extramedullary lesions. This phenomenon was consistent with the previous studies, suggesting that lncRNA NEAT1 is an oncogenic gene in MM pathology and can potentially be a biomarker for predicting disease evolution [17,21,22].
Discriminant Analysis of Lung Cancer Using Nonlinear Clustering of Copy Numbers
Published in Cancer Investigation, 2020
Nezamoddin N. Kachouie, Meshal Shutaywi, David C. Christiani
The cancer cluster obtained using copy numbers of chromosome 1 contains 71 samples, 44 of which are true cancer samples and 27 of them are normal samples falsely clustered in the cancer group. The remaining 55 samples (126–71 = 55) are grouped in the normal cluster, consisting of 36 non-involved samples (true negatives) and 19 cancer samples (false negatives). Top left panel of Figure 1 shows true cancer (black dots) and normal (red dots) groups for chromosome 1. Clustering result obtained by kernel K-means using copy numbers of chromosome 1 is depicted in Top right panel of Figure 1. For visualization purposes, X-Y axis in Figure 1 are first and second principal components obtained for the feature matrix of chromosome 1. The accuracy (true rate) and corresponding NMI computed for chromosome 1 are 63% and 0.0544, respectively.
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