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Genetics
Published in Karl H. Pang, Nadir I. Osman, James W.F. Catto, Christopher R. Chapple, Basic Urological Sciences, 2021
Structural changes include (Figure 2.2):Deletion: loss of genetic material.Duplication: genetic material is copied.Inversion: DNA breaks in two places and the resulting piece of DNA is reversed and reinserted.Isochromosomes: two identical arms, instead of one short (p) and one long (q) arm.Translocation: a piece of chromosome breaks off and attaches to another chromosome:Balanced: no gain/loss of genetic material.Unbalanced: gain/loss of genetic material.
Basic genetics and patterns of inheritance
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Finally, isochromosomes result from loss of either the p arm or the q arm of a metacentric or submetacentric chromosome, with duplication of the remaining arm, thus causing trisomy for the p or q arm of a pair of chromosomes and monosomy for the opposite arm. This is seen most commonly in some cases of Turner syndrome, when the X chromosome is involved. Isochromosomes for the autosomes would be expected to cause very severe and likely lethal abnormalities in most cases.
Pediatric Oncology
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2020
Stephen Lowis, Rachel Cox, John Moppett, Helen Rees
Deletion of 1p or gain of 1q and chromosome 3 are the most common abnormalities seen in malignant GCTs for both sexes.128 Isochromosome 12p and aneuploidy are common in adolescent boys, uncommon in early childhood.
Genetic mutations associated with blood count abnormalities in myeloid neoplasms
Published in Hematology, 2022
Chantana Polprasert, Sunisa Kongkiatkamon, Pimjai Niparuck, Thanawat Rattanathammethee, Kitsada Wudhikarn, Suporn Chuncharunee, Sirorat Kobbuaklee, Amornchai Suksusut, Theerin Lanamtieng, Panisinee Lawasut, Thiti Asawapanumas, Udomsak Bunworasate, Ponlapat Rojnuckarin
A great variety of genetic abnormalities underlying disease pathogenesis in MDS and MDS/MPN has been identified which sometimes are overlapped between these groups. Genetic pathways frequently mutated in myeloid neoplasms (MNs) include epigenetic regulation, RNA splicing machinery, transcriptional activation, and cell signalling [3]. Genetic lesions in MNs shape the clinical phenotypes, disease evolution and survival outcomes [4,5]. Genotype-phenotypic correlations have been reported in MDS. Macrocytic anaemia, normal or high platelet counts and micromegakaryocyte in bone marrow predict the genetic alteration involving 5q deletion [6]. Patients harbour isolated isochromosome 17q are likely to have anaemia, leukocytosis and thrombocytopenia, although not specific but these features are more frequent in this particular subgroup [7].
Multitarget fluorescence in situ hybridization diagnostic applications in solid and hematological tumors
Published in Expert Review of Molecular Diagnostics, 2021
Federica Zito Marino, Matteo Brunelli, Giulio Rossi, Giuseppe Calabrese, Anna Caliò, Pamela Nardiello, Guido Martignoni, Jeremy A. Squire, Liang Cheng, Daniela Massi, Renato Franco
UroVysion consists of fluorescently labeled DNA probes to the pericentromeric regions of chromosomes 3 (red), 7 (green), and 17 (aqua) and to the 9p21 band (gold) location of the P16 tumor suppressor gene (Figure 4(c)). The UroVysion assay works by detecting urinary cells that have chromosomal abnormalities consistent with a diagnosis of bladder cancer. Many studies have shown that UroVysion is more sensitive than urine cytology for the detection of all stages and grades of bladder cancer. UroVysion is Food and Drug Administration-approved for the detection of recurrent bladder cancer in voided urine specimens from patients with a history of bladder cancer and for the detection of bladder cancer in voided urine specimens from patients with gross or microscopic hematuria, but no previous history of bladder cancer. Recent studies also suggest that UroVysion may be useful for assessing superficial bladder cancer patients’ response to bacillus Calmette–Guerin therapy and in detecting upper tract urothelial carcinoma [62]. Cheng et al. provided a detailed protocol for FISH detection of isochromosome 12p and chromosome 12p over representation. The method is helpful for both diagnosis of germ cell origin, and for selection of patients who may benefit from cisplatin-based chemotherapy [63,64].
Pediatric embryonal brain tumors in the molecular era
Published in Expert Review of Molecular Diagnostics, 2020
Bryan K. Li, Salma Al-Karmi, Annie Huang, Eric Bouffet
This group is transcriptionally characterized by GABAnergic and photoreceptor pathway activation. They are considered copy number-driven tumors, as only rare somatic nucleotide variants including mutations of SMARCA4, CTDNEP1, MLL2 have been reported [12]. Amplification of MYC is seen in 10–20% of cases, frequently as a gene fusion with PVT1 secondary to complex rearrangements of chr 8q24. Broad chromosomal arm level-changes are common, notably isochromosome 17q (i17q), seen in 40% of cases. Aberrant enhancer associated GFI1 activation related to focal alterations of chr 1 and 9 are seen among 20% of cases [43]. Recent proteomic studies have revealed a subset of group 3 tumors are characterized by MYC activation through either gene amplification or interestingly, an increase in post-translational modification of MYC that altered its half-life and transcriptional activity [19]. Preclinical data from targeting this pathway using BET/bromodomain inhibitors, which target MYC and MYCN-associated transcription activity, have shown promise [51,52].