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Gene Rearrangement in Leukemias and Lymphomas
Published in John T. Kemshead, Pediatric Tumors: Immunological and Molecular Markers, 2020
The study of a cell line, SUPT-1, derived from a patient with childhood T cell lymphoma has revealed that the DNA recombinase can function at both the Ig and TCR loci.92,93 The tumor carried an inversion of chromosome 14 (q11.2; q32.2). Since the IgH locus is at 14q32 and the TCRa at 14q11, it was of interest to study the DNA sequences around both breakpoints. This revealed that a “fusion” gene (“IgT”), composed of an Ig V region and a TCR Jα and Cα, had been formed by a rearrangement of genetic material.93 The role of IgT in oncogenesis is a matter of speculation until it is known whether it is present in other T cell neoplasms with an inverted chromosome 14 and whether IgT transcripts are functional in the neoplastic cell.
Inherited Defects in Immune Defenses Leading to Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Ataxia telangiectasia is an autosomal recessive condition in which the two most constant features are progressive cerebellar ataxia and oculocutaneous telangiectasia, both of which become evident in the second to sixth year of life [143]. The immune defects in this disease have been most carefully examined [144,145]. IgA is often low or absent, IgE may be deficient, while other Ig classes are usually normal. The lack of uniformity from case to case is striking. The response of blood lymphocytes to phytohemagglutinin, skin testing for cellular immunity, and homograft rejection are frequently deficient, implicating defective cellular immunity. Thymus abnormalities have been found at autopsy. There is a strikingly high incidence of malignancy particularly of the reticulendothelial system [145]. Cytogenetic studies have observed chromosomal rearrangements [143], clonal populations of cells which may expand [146], and a consistent abnormality of human chromosome 14.
Synthesis of Critical Topics in Alzheimer’s Disease *
Published in Zaven S. Khachaturian, Teresa S. Radebaugh, Alzheimer’s Disease, 2019
Zaven S. Khachaturian, Teresa S. Radebaugh
The scientific enthusiasm about the possible role of amyloid protein in the pathology of AD has been further fueled by the results of molecular genetics studies that have identified genes associated with familial (inherited) AD on chromosomes 21, 14, 1, and 19. The first specific gene linked with familial AD was the APP gene on chromosome 21, which is responsible for producing amyloid protein. After the initial report, several other mutations were found in the region of the APP gene in members of families that had a history of AD onset at a relatively young age. How these mutations alter the behavior of APP and their significance to normal cell functioning are not known, but are being actively studied. Subsequently, a region on chromosome 14 was also linked to an early-onset form of the disease. Recently the exact locus of this gene was pinpointed. The exact function of this gene is still unknown, but it is only a matter of time when this will be no longer be a mystery. Within a short period following the discovery of the of the locus of chromosome 14, a locus on chromosome 1 was linked to a family with an unusually high incidence of AD, known as the Volga-German families.
Circ_0003489 facilitates multiple myeloma progression by targeting miR-433-3p/PBX3 axis
Published in Hematology, 2022
Tielun Yan, Xiaoli Wang, Dajin Zhou, Haibo Qiu, Jiliang Zhang, Weixiong Yang
Multiple myeloma (MM) is one of the common malignancies of the hematological system and is characterized by the clonal phenomenon of malignant plasma cells of the bone marrow [1]. Radiation, toxins, viral exposure and chromosomal abnormalities may be associated with the development of MM, and a mutation at chromosome 14 has been found to be closely related to the growth of cancer cells in the bone marrow [2]. MM is more prevalent in older age groups and has a higher incidence in males, and there are statistics that blacks have a higher incidence than whites [2,3]. Patients with MM usually have anemia, bone pain, kidney damage and hypercalcemia [4]. Recently, research in the molecular field for MM diagnosis and treatment is gradually being carried out, which may give a huge impetus to the updating of MM treatment method.
FOXG1 mediates the radiosensitivity of glioma cells through regulation of autophagy
Published in International Journal of Radiation Biology, 2021
Ning Xiao, Churong Li, Wenjun Liao, Jun Yin, Shichuan Zhang, Peng Zhang, Lan Yuan, Min Hong
The FOXG1 gene, located in the q12 region of chromosome 14 and encoding 489 amino-acid protein (Brunetti-Pierri et al. 2011), is a transcription factor that plays an important role in brain development, cortex neuron differentiation and neurogenesis (Brancaccio et al., 2010; Manuel et al. 2011). Accumulating evidence has highlighted the role of the FOXG1 gene in a variety of malignancies. An imbalance in FOXG1 gene expression is able to influence the occurrence of medulloblastoma (Adesina et al., 2007) and is also associated with the survival and invasive phenotype of a xenograft model of medulloblastoma (Adesina et al. 2015). Ji et al. (2018) reported that microRNA-378 promoted the proliferation of non-small cell lung cancer cells by inhibiting FOXG1. Inversely, FOXG1 acts as an oncoprotein inhibiting TGF-β -mediated anti-proliferative responses in ovarian cancer cells (Chan et al. 2009). In the present study, it revealed that FOXG1 was highly expressed in glioma tissues, which was consistent with the study of Chen et al (Chen et al. 2018), indicating that FOXG1 may play a vital role in glioma tumorigenesis and development. In addition, it revealed that FOXG1 was up-regulated in radio-resistant glioma cells exposed to X-ray, indicating that FOXG1 might be associated with radio-resistance in glioma cells.
Deciphering the genotype and phenotype of hairy cell leukemia: clues for diagnosis and treatment
Published in Expert Review of Clinical Immunology, 2019
Margot C.E. Polderdijk, Michiel Heron, Saskia Kuipers, Ger T. Rijkers
Another interesting observation is a case where ring chromosomes were found, together with 14q+ and 6q- [44]. This was also related to a short clinical course with poor response to therapy. Further research on ring chromosomes in cancer has been performed, especially for more common leukemia types, but not for HCL. In another review, Haglund, Juliusson, Stellan, and Gahrton [45] presented data from 20 out of 30 HCL patients with chromosome aberrations. They were mostly deletions and inversions, in the chromosomes 1, 2, 5, 6, 11, 19 and 20. More specifically, trisomy 5, structural abnormalities in chromosomes 2 and 5, as well as 1q42 were found in HCL, but were rare in other hematologic malignancies. Another case report [46] with a focus on cytogenetic aspects found del(17)(q25) in multiple cells from one patient. Sambani et al. [47] describe abnormalities in chromosome 14, as well as trisomies of chromosomes 5 and 6 as recurrent, but only in three and two patients, respectively. They report rearrangement of 14q as the most common cytogenetic abnormality in HCL, appearing in 20% of patients with cytogenetic abnormalities. The band most often involved in the 14q+ is q32 [48].