RESUMO
BACKGROUND: Endoscopic sinus surgery (ESS) is an effective and safe treatment modality for medically recalcitrant chronic rhinosinusitis (CRS) in the paediatric population, especially in older children or those with nasal polyposis (CRSwNP). We aimed to elucidate the inflammatory pattern and clinical characteristics of CRSwNP related to revision surgery after ESS in a paediatric population. METHODS: We retrospectively enrolled 146 patients with bilateral CRSwNP. Twenty-two patients had recurrent nasal polyps that required revision surgery. The clinical characteristics, computed tomography (CT) features, tissue eosinophil count, and immunoactivity of signature cytokines in the two groups were analysed. RESULTS: Tissue eosinophil infiltration and immunoreactivity of eosinophilic cationic protein and IL-5 in the sinus mucosa were higher in patients that required revision surgery. The revision surgery group was significantly younger and had positive aeroallergen test results, higher total Lund-Mackay scores, and ethmoid/maxillary sinus ratio on CT images than those without revision surgery. A nomogram was developed to predict the probability of the requirement of revision surgery according to the logistic regression analysis results. CONCLUSIONS: We developed a nomogram model using clinical characteristics, tissue eosinophilia, and CT features for the preoperative identification of patients vulnerable to revision surgery in paediatric CRSwNP. This could help clinicians predict the probability of recurrence and perform intensive postoperative adjunct therapy and follow-up.
Assuntos
Eosinofilia , Pólipos Nasais , Rinite , Sinusite , Humanos , Criança , Eosinófilos , Estudos Retrospectivos , Reoperação , Pólipos Nasais/cirurgia , Rinite/cirurgia , Sinusite/cirurgia , Doença Crônica , Tomografia Computadorizada por Raios X , TomografiaRESUMO
Gout is a common metabolic disease and acute gouty arthritis (AGA) is one of the important complications. Jia-Wei-Si-Miao-Wan is a newly developed drug for treating acute gouty arthritis, but the molecular mechanism has not been completely clarified. Thus, this study was aimed to explore the regulation of Jia-Wei-Si-Miao-Wan on NLRP3 inflammasome and TLR/NF-κB signaling, which are two important signaling pathways in inflammation. AGA rat model was established by injecting monosodium urate into the right knee. Colchicine and Jia-Wei-Si-Miao-Wan were administrated by gavage. The circumference of the knee was measured. IL-1ß and IL-18 level in the flushing fluid was detected by enzyme linked immunosorbent assay (ELISA). Western blot, immunohistochemistry and quantitative real-time RT-PCR were used to detect the protein and mRNA expression of TLR4, NLRP3, ASC, caspase-1, NF-κB and p-NF-κB. The results showed that IL-1ß and IL-18 level in the flushing fluid was increased and TLR4, NLRP3, ASC, caspase-1, NF-κB and p-NF-κB expressions were up-regulated after the establishment of AGA rat model. Colchicine and Jia-Wei-Si-Miao-Wan administration could alleviate the inflammation in the knee by inhibiting NLRP3 inflammasome and TLR/NF-κB signaling. In vivo data showed that the therapeutic effect of Jia-Wei-Si-Miao-Wan could be comparable with colchicine but had lower hepatic and renal toxicity. In conclusion, Targeting NLRP3 inflammasome and TLR/NF-κB signaling by Jia-Wei-Si-Miao-Wan could be effective in treating AGA.
Assuntos
Artrite Gotosa/tratamento farmacológico , Medicamentos de Ervas Chinesas/farmacologia , Inflamassomos/efeitos dos fármacos , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Animais , Caspase 1/metabolismo , Interleucina-1beta/metabolismo , NF-kappa B/metabolismo , Ratos , Transdução de Sinais , Receptor 4 Toll-Like/metabolismoRESUMO
Subwavelength perfect optical absorption structures based on monolayer-graphene are analyzed and demonstrated experimentally. The perfect absorption mechanism is a result of critical coupling relating to a guided mode resonance of a low index two-dimensional periodic structure. Peak absorption over 99% at wavelength of 1526.5 nm with full-width at half maximum (FWHM) about 18 nm is demonstrated from a fabricated structure with period of 1230 nm, and the measured results agree well with the simulation results. In addition, the influence of geometrical parameters of the structure and the angular response for oblique incidence are analyzed in detail in the simulation. The demonstrated absorption structure in the presented work has great potential in the design of advanced photo-detectors and modulators.
RESUMO
WAGR (Wilms tumor, Aniridia, Genitourinary malformations and mental Retardation) syndrome is a rare genomic disorder caused by deletion of the 11p14-p12 chromosome region. The majority of WAGR patients have mental retardation and behavioral problems, and more than 20% of the patients also have features of autism. While the Wilms tumor/genitourinary anomalies and aniridia are caused by deletion of WT1 and PAX6 respectively, the genomic cause of mental retardation and autism in WAGR syndrome remains unknown. Using oligonucleotide arrays, we have characterized the 11p14-p12 deletions in 31 patients and identified all the genes involved in each deletion. The deletions had sizes ranging from 4.9 to 23 Mb that encompass 18-62 genes (40 on average). In addition to WT1 and PAX6, all the patients had deletion of PRRG4 (transmembrane gamma-carboxyglutamic acid protein 4). The majority of them had deletion of BDNF (brain-derived neurotrophic factor) and SLC1A2 [solute carrier family 1 (glial high affinity glutamate transporter) member 2]. Deletion of BDNF and SLC1A2 occurred in patients with autism more frequently than in those without autism. Literature review on the functions of the genes suggests that haploinsufficiency of SLC1A2, PRRG4, and BDNF may contribute to mental retardation and behavioral problems. In particular, BDNF may modulate the risk of autism in WAGR patients as suggested by its link with Rett syndrome as a target of MECP2. We observed that all the de novo deletions occurred in the chromosome 11 inherited from the father in the families genotyped, implying a predisposition for de novo mutations occurring in spermatogenesis and possible involvement of imprinting in cognitive impairment in WAGR patients.
Assuntos
Transtorno Autístico/genética , Deleção Cromossômica , Cromossomos Humanos Par 11/genética , Síndrome WAGR/genética , Adolescente , Adulto , Criança , Pré-Escolar , Hibridização Genômica Comparativa , Feminino , Humanos , Masculino , LinhagemRESUMO
A small supernumerary marker chromosome (SMC) was observed in a girl with severe developmental delay. Her dysmorphism included prominent forehead, hypertelorism, down-slanting palpebral fissures, low-set/large ears, and flat nasal bridge with anteverted nares. This case also presented hypotonia, hypermobility of joints, congenital heart defect, umbilical hernia, failure to thrive, and seizures. The SMC originated from the distal region of Xp as identified by FISH with multiple DNA probes. Staining with antibodies to Centromere Protein C (CENP-C) demonstrated a neocentromere, while FISH with an alpha-satellite DNA probe showed no hybridization to the SMC. A karyotype was described as 47,XX,+neo(X)(pter-->p22.31::p22.31-->pter), indicating a partial tetrasomy of Xp22.31-->pter. This karyotype represents a functional trisomy for Xp22.31-->pter and a functional tetrasomy for the pseudoautosomal region given that there is no X-inactivation center in the marker chromosome. The SMC was further characterized by microarray-based comparative genomic hybridization (array CGH) as a duplicated DNA fragment of approximately 13 megabase pairs containing about 100 genes. We have described here a new neocentromere with discussion of its clinical significance.
Assuntos
Anormalidades Múltiplas/genética , Proteínas Cromossômicas não Histona/genética , Mapeamento Cromossômico/métodos , Cromossomos Humanos X , Cromossomos/genética , Hibridização in Situ Fluorescente/métodos , Hibridização de Ácido Nucleico , Pré-Escolar , DNA/genética , Saúde da Família , Feminino , Humanos , Masculino , FenótipoRESUMO
Vascular smooth muscle cells (SMCs) perform diverse functions and this functional heterogeneity could be based on differential recruitment of distinct SMC subsets. In humans, however, there is little support for such a paradigm, partly because isolation of pure human SMC subsets has proven difficult. We report the cloning of 12 SMC lines from a single fragment of human internal thoracic artery and the elucidation of 2 distinct cellular profiles. Epithelioid clones (n=9) were polygonal at confluence, 105+/-9 micrometer in length, and had a doubling time of 39+/-2 hours. Spindle-shaped clones (n=3) were larger (267+/-18 micrometer long, P<0.01) and grew slower (doubling time 65+/-4 hours, P<0.01). Both types of clones expressed smooth muscle (SM) alpha-actin, SM-myosin heavy chains, h-caldesmon, and calponin, but only spindle-shaped clones expressed metavinculin. Epithelioid clones displayed greater proliferation in response to platelet-derived growth factor-BB and fibroblast growth factor-2 and were more responsive to the migratory effect of platelet-derived growth factor-BB. Spindle-shaped clones showed more robust Ca(2+) transients in response to angiotensin II, histamine, and norepinephrine, crawled more quickly, and expressed more type I collagen. On serum withdrawal, spindle-shaped clones differentiated into a contraction-competent cell. A regional basis for diversity among SMCs was suggested by stepwise arterial digestion, which liberated small, SM alpha-actin-positive cells from the abluminal medial layers and larger SMCs from all layers. These results identify inherent SMC diversity in the media of the adult internal thoracic artery and suggest differential participation of SMC subsets in the regulation of human arterial behavior.
Assuntos
Artéria Torácica Interna/citologia , Músculo Liso Vascular/citologia , Actinas/metabolismo , Adulto , Angiotensina II/farmacologia , Becaplermina , Western Blotting , Cálcio/metabolismo , Proteínas de Ligação ao Cálcio/genética , Proteínas de Ligação ao Cálcio/metabolismo , Proteínas de Ligação a Calmodulina/metabolismo , Divisão Celular/efeitos dos fármacos , Movimento Celular/efeitos dos fármacos , Tamanho Celular/efeitos dos fármacos , Células Cultivadas , Células Clonais , Meios de Cultura/farmacologia , DNA Complementar/genética , Fator 2 de Crescimento de Fibroblastos/farmacologia , Humanos , Cariotipagem , Proteínas dos Microfilamentos , Músculo Liso Vascular/química , Músculo Liso Vascular/metabolismo , Cadeias Pesadas de Miosina/metabolismo , Fenótipo , Fator de Crescimento Derivado de Plaquetas/farmacologia , Proteínas Proto-Oncogênicas c-sis , Fatores de Tempo , CalponinasRESUMO
Glucose uptake by heart, skeletal muscle, and adipose tissue is acutely regulated by insulin, which stimulates facilitative glucose transport, at least in part, by promoting the translocation of transporters from an intracellular pool to the plasma membrane. cDNAs encoding the major human insulin-responsive glucose transporter have been isolated and indicate that the insulin-responsive glucose transporter expressed by heart, skeletal muscle, and adipose tissue is a 509-amino acid protein having 65.3, 54.3, and 57.5% identity with the erythrocyte/HepG2, liver, and fetal muscle glucose transporters, respectively. The gene encoding the insulin-responsive glucose transporter (designated GLUT4) was mapped to the p11----p13 region of the short arm of human chromosome 17 by analyzing its segregation in a panel of reduced human-mouse somatic cell hybrids. In situ hybridization to prometaphase chromosomes indicated that GLUT4 was in band p13. A common two-allele restriction-fragment-length polymorphism (RFLP) was identified with Kpn I, and linkage of this RFLP to other polymorphic DNA markers in this region of chromosome 17 provides a set of probes that will be useful for examining the role of this gene in the pathogenesis of diabetes mellitus.
Assuntos
Mapeamento Cromossômico , Cromossomos Humanos Par 17/ultraestrutura , Insulina/farmacologia , Proteínas de Transporte de Monossacarídeos/genética , Polimorfismo Genético/efeitos dos fármacos , Regulação da Expressão Gênica/efeitos dos fármacos , Ligação Genética , Marcadores Genéticos/genética , Humanos , Proteínas de Transporte de Monossacarídeos/metabolismo , Polimorfismo de Fragmento de RestriçãoRESUMO
BACKGROUND: Malignant melanoma arising from different body compartments may be associated with differing aetiological factors and clinical behaviour, and may manifest diverse molecular genetic profiles. Although many studies have focused on cutaneous melanoma, little is known of mucosal and other types of melanoma. In particular, malignant melanoma of soft parts is different from other melanomas in many respects, yet manifests a common melanocytic differentiation. Mutation of BRAF is now known to be common in cutaneous melanomas, and raises possible new therapeutic options of anti-RAF treatment for these patients. Few data are available for non-cutaneous melanomas. AIMS: To study the incidence of BRAF and NRAS mutations in melanomas arising in diverse internal organs. METHODS: Fifty one melanomas from various internal organs were investigated for BRAF and NRAS mutation by direct DNA sequencing. RESULTS: BRAF and NRAS mutations were found in two and five mucosal melanomas arising from the aerodigestive and female genital tracts (n = 36). Their occurrence is mutually exclusive, giving a combined mutation incidence rate of 19.4% in mucosal melanomas. Both BRAF and NRAS mutations were absent in malignant melanoma of soft parts (n = 7). BRAF mutation was also absent in uveal melanoma (n = 6), but was seen in two of five cutaneous melanomas. The incidence of BRAF or combined BRAF/NRAS mutations in all non-cutaneous groups was significantly lower than published rates for cutaneous melanomas. CONCLUSION: Each melanoma subtype may have a unique oncogenetic pathway of tumour development, and only a small fraction of non-cutaneous melanomas may benefit from anti-RAF treatment.
Assuntos
Genes ras/genética , Melanoma/genética , Mutação , Proteínas de Neoplasias/genética , Proteínas Proto-Oncogênicas B-raf/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise Mutacional de DNA , DNA de Neoplasias/genética , Neoplasias do Sistema Digestório/genética , Feminino , Neoplasias dos Genitais Femininos/genética , Humanos , Pessoa de Meia-Idade , Neoplasias Cutâneas/genética , Neoplasias Uveais/genéticaRESUMO
The gene-encoding human islet amyloid polypeptide (hIAPP), a recently discovered 37 amino acid hormone-like polypeptide which is expressed in the insulin-producing beta-cells of the endocrine pancreas, has been isolated and characterized. The coding region of the gene is interrupted in the 5'-untranslated region and NH2-terminal propeptide by introns of 330 and 4808 base pairs (bp), respectively. Exon 1 (104 bp) encodes most of the 5'-untranslated region of the mRNA; exon 2 (95 bp) encodes 15 nucleotides of 5'-untranslated region, the putative 22 amino acid signal peptide and five residues of the NH2-terminal propeptide; exon 3 (1246 bp) encodes the remainder of the NH2-terminal propeptide (residues 6-9), the IAPP moiety and its processing signals and the 16 amino acid COOH-terminal propeptide, as well as the 3'-untranslated region of the mRNA (1059 bp). Analysis of the nucleotide and predicted amino acid sequence of intron 2 of the hIAPP gene did not reveal any homology with the structurally related calcitonin/calcitonin-gene-related peptide genes and indicated that, in contrast to these latter genes, the hIAPP gene apparently gives rise to only a single hormonal product. The transcriptional initiation site was identified about 28 bp downstream from a TATAA sequence. The hIAPP gene was localized to the p12.3 region of chromosome 12.
Assuntos
Amiloide/genética , Cromossomos Humanos Par 12 , Sequência de Aminoácidos , Sequência de Bases , Peptídeo Relacionado com Gene de Calcitonina/genética , Mapeamento Cromossômico , Genes , Humanos , Polipeptídeo Amiloide das Ilhotas Pancreáticas , Dados de Sequência Molecular , Filogenia , Sinais Direcionadores de Proteínas/genética , Homologia de Sequência do Ácido NucleicoRESUMO
The human motilin gene has been isolated and characterized. The gene spans about 9 kilobase pairs (kb) and the 0.7 kb motilin mRNA is encoded by five exons. The 22-amino-acid motilin sequence is encoded by exons 2 and 3. The human motilin gene was mapped to the p21.2----p21.3 region of chromosome 6 by hybridization of the cloned cDNA to DNAs from a panel of reduced human-mouse somatic cell hybrids and by in situ hybridization to human prometaphase chromosomes. RNA blotting using RNA prepared from various regions of the human gastrointestinal tract revealed high levels of motilin mRNA in duodenum and lower levels in the antrum of the stomach; motilin mRNA could not be detected by this procedure in the esophagus, cardia of the stomach, descending colon or gallbladder.
Assuntos
Regulação da Expressão Gênica , Motilina/genética , Sequência de Aminoácidos , Mapeamento Cromossômico , Cromossomos Humanos Par 6 , Éxons , Genes , Humanos , Dados de Sequência Molecular , Hibridização de Ácido Nucleico , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Distribuição Tecidual , Transcrição GênicaRESUMO
Addition of the non-ionic detergent Tween 20 to the serum diluent enhances anti-cardiolipin binding reactivity in an ELISA system. Maximal enhancement was obtained using a concentration of 0.05% Tween 20 in the diluent. Non-specific interactions were also considerably reduced.
Assuntos
Anticorpos/imunologia , Cardiolipinas/imunologia , Polissorbatos/farmacologia , Animais , Ensaio de Imunoadsorção Enzimática , HumanosRESUMO
A new complex variant Philadelphia chromosome was detected in a 65-year-old man with acute, pre-B, lymphoblastic leukemia (ALL). The classic cytogenetic analysis identified an apparently balanced three-way translocation t(1;9;22)(q25;q34;q11.2). Fluorescence in situ hybridization (FISH) studies confirmed the translocation and showed bcr/abl fusion on the der(22). However, these studies revealed that the distal part of the bcr gene was not translocated onto chromosome 1 at 1q25, but inserted into chromosome 17 at 17p12-13. This complex variant translocation was described as a t(1;9;22)(q25;q34;q11.2)ins(17;22)(p12-13;q11.2q11.2). Secondary changes including +8, an inversion of the derivative chromosome 9, a translocation t(14;20)(q11;q13), and an additional derivative 22 were also identified in most of the abnormal cells. The patient died from systemic fungemia and multiorgan failure 9 months after the diagnosis of ALL. The clinical significance of complex variant Philadelphia chromosomes in ALL is reviewed and discussed.
Assuntos
Cromossomos Humanos , Cromossomo Filadélfia , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Translocação Genética , Adulto , Idoso , Bandeamento Cromossômico , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , MasculinoRESUMO
A derivative chromosome 8 was observed in a newborn boy who presented with low birth weight, multiple congenital anomalies, and dysmorphic face. The der(8) was further characterized at age 18 months by a high resolution G-banding analysis, spectral karyotyping, and fluorescence in situ hybridization (FISH) with multiple DNA probes. The karyotype was described as 46,XY,der(8)(qter-->q24.13::p21.3-->p23.3::p23.3-->qter), representing an inverted duplication of region 8p21.3-->p23.3 and a duplication of region 8q24.13-->qter, which attaches to the duplicated short arm segment at 8p21.3. Different from previously reported patients with an inverted duplication (8p), no deletion was detected in the distal region of 8p in this case. This young child had manifested a broad nasal bridge, micrognathia, cleft lip, hydrocephalus, partial agenesis of the corpus callosum, Dandy-Walker malformation, congenital heart defects, dysplastic kidneys, hydronephrosis, marked hypotonia, and significant psychomotor retardation. These features are compared with those commonly seen in cases with an inverted duplication of 8p and cases with a partial trisomy of 8q.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 8/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Bandeamento Cromossômico , Análise Citogenética , Duplicação Gênica , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Cariotipagem , MasculinoRESUMO
We report a new de novo case of a balanced whole-arm reciprocal translocation, detected at prenatal diagnosis for late maternal age. A review of previous cases indicates there is a risk of chromosomally abnormal liveborn offspring when a parent is a carrier of this type of translocation, particularly when the translocated region is a small chromosomal segment. Due to the limited number of cases, exact reproductive risks are not available. This is the second example of such a translocation of chromosomes 1 and 5, raising the possibility of nonrandom involvement of certain chromosomes in balanced nonacrocentric whole-arm reciprocal translocations.
Assuntos
Cromossomos Humanos Par 1 , Cromossomos Humanos Par 5 , Translocação Genética , Amniocentese , Cromossomos Humanos Par 1/ultraestrutura , Cromossomos Humanos Par 5/ultraestrutura , Feminino , Humanos , Recém-Nascido , Cariotipagem , Masculino , Gravidez , PrognósticoRESUMO
A small, extra chromosome segment added to 1p was found by Q-banding 16 years ago in a newborn baby with low birth weight, short stature, wide open fontanelle, small palpebral fissures, depressed nose bridge, and inguinal hernia. This chromosome abnormality has been characterized recently with G-banding and fluorescence in situ hybridization using multiple DNA probes. The karyotype is now described as 46,XY, der(1)(qter-->p36.13::q42.3-->qter), representing a small deletion of 1p36.13-pter and a small duplication of 1q42.3-qter. Re-examination of this patient at age 16 years showed marked psychomotor delay, severely accentuated dorsal kyphosis and scoliosis, pectus excavatum, and other anomalies but no clinical signs of neuroblastoma. Comparison of the clinical findings in this case with those described in the patients having either a deletion of 1p36-pter or a duplication of 1q42-qter further illustrated the complexity of the genotype-phenotype relationship.
Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 1/genética , Adolescente , Aberrações Cromossômicas/patologia , Bandeamento Cromossômico , Deleção Cromossômica , Citogenética , Duplicação Gênica , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Cariotipagem , MasculinoRESUMO
We report six cases in two families and a sporadic case with a direct duplication of region 8p21.3-->23.1. In one family, the duplication started in the mother and was transmitted to one son and one daughter. In the second family, the father was mosaic for the anomaly that was transmitted to his two daughters. The cytogenetic anomaly was initially described as an 8p+ with banding analysis and then delineated with fluorescence in situ hybridization (FISH) using whole-chromosome 8 painting, 8p specific painting, and 8p or 8p/8q subtelomeric probes. Deletion was not detected in the subtelomeric region of the abnormal chromosome 8 examined in one family and in the sporadic case. The phenotypic picture varies from normal to moderate mental retardation in the affected individuals. No consistent minor anomalies or congenital defects were observed among these cases. After comparing the chromosome region involved in our cases with those in others having direct or inverted duplications of 8p, it is thought that the segment 8p21.1-->21.3 might be the critical region for an 8p duplication syndrome. The parental origin of the duplication does not seem to impact its clinical significance.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 8/genética , Deficiências do Desenvolvimento/genética , Duplicação Gênica , Coloração Cromossômica , Feminino , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Deficiência Intelectual/genética , Cariotipagem , Masculino , Mosaicismo/genética , Fenótipo , Gravidez , Diagnóstico Pré-NatalRESUMO
G-banded karyotypes were analyzed on four human lung adenocarcinoma cell lines, AGZY83-a, LTEP-a1, LTEP-a2, and GLC-82. More than 50 cells were counted and 20-40 cells were karyotyped for each cell line at different passages. The chromosome numbers of cell line AGZY83-a, LTEP-a1, LTEP-a2, and GLC-82 were 53-69, 100-110, 51-56, and 61-63, respectively. Each cell line had a number of markers involving complex chromosome rearrangements. Chromosomal analysis at different passages showed the stability of these cell lines in vitro. It was revealed that the marker chromosomes involving deletions or rearrangements of the short arm of chromosome #1 were present in all the four cell lines with breakpoints at 1p12-1p22.
Assuntos
Adenocarcinoma/genética , Aberrações Cromossômicas , Neoplasias Pulmonares/genética , Linhagem Celular , Bandeamento Cromossômico , Cromossomos Humanos Par 1 , Marcadores Genéticos , Humanos , CariotipagemRESUMO
An interstitial deletion in the long arm of chromosome 8 as the sole structural anomaly was detected in a primary gastric diffuse large B-cell lymphoma, high-grade mucosa-associated lymphoid tissue (MALT) type, from a 74-year-old man. Low-grade MALT lymphoma was not seen in the sections submitted for examination. Helicobactor pylori organisms were found in a biopsy performed prior to resection of the tumor. The karyotype was described as 45, X,-Y,del(8)(q13q22). No rearrangement between chromosome 8 and others was detected with fluorescence in situ hybridization using a whole chromosome 8 painting probe. Fluorescence in situ hybridization with the C-MYC gene showed its normal location at 8q24 on both chromosomes 8 without rearrangement. Amplification of C-MYC was not detected in interphase cells. Deletion of 8q may represent a unique genomic alteration in this particular subtype of primary gastric lymphoma.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 8 , Linfoma de Células B/genética , Neoplasias Gástricas/genética , Idoso , Humanos , Imunofenotipagem , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , MetáfaseRESUMO
Jumping translocation is a rare cytogenetic aberration in leukemia and lymphoma, and its etiologic mechanisms are not clearly known. We report two cases with jumping translocations. One had follicular lymphoma and jumping translocations of 1q onto the telomeric regions of 5p, 9p, and 15q in three cell lines, co-existing with the specific translocation t(14;18)(q32;q21). The second case had acute myeloid leukemia (AML) and jumping translocations of 11q as the sole aberration, onto multiple derivative chromosomes in each of the abnormal cells. A total of 17 telomeric regions were seen as the recipients of 11q in this case, and 9q was always involved as one of the recipients in all abnormal cells. Fluorescence in situ hybridization (FISH) confirmed the identification of 11q material in the derivative chromosomes. While 1q has been the most common donor of acquired jumping translocations, this is the first report on jumping translocations of 11q. Different from all previously reported jumping translocations which involve only one recipient in each cell line and lead to a mosaic trisomy, multiple recipients in most of the abnormal cells in this case had led to a tetrasomy, or a pentasomy of 11q. The pattern of chromosome involvement as the recipients of 11q appears to show a continuing evolutionary process of jumping, stabilization, and spreading of the donor material into other chromosomes. Somatic recombinations between the interstitial telomeric or subtelomeric sequences of a derivative chromosome and the telomeric sequences of normal chromosomes are believed to be the underlying mechanism of jumping translocations and their clonal evolution.
Assuntos
Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 1/genética , Leucemia Mieloide/genética , Linfoma Folicular/genética , Translocação Genética/genética , Doença Aguda , Adulto , Idoso , Idoso de 80 Anos ou mais , Aneuploidia , Coloração Cromossômica , Feminino , Humanos , Cariotipagem , Masculino , Telômero/genéticaRESUMO
Cytogenetic studies showed a hyperhaploid stemline, (32,XY,+1,+7,+9,+12,+13,+14,+19,+20) in a patient with choroid plexus carcinoma. Endoreduplication and doubling of the stemline to 200-400 chromosomes per cell and variation in numerical changes were also noted. Telomeric association was present in most cells. The 12p and 20q were by far the most frequently involved chromosome arms. Telomeric association is believed to have triggered further structural changes in this case since the 12p and 20q were always involved in the few structural abnormalities identified. A review of the literature suggests that hyperhaploidy may characterize choroid plexus carcinoma and hyperdiploidy choroid plexus papilloma.