Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 6 , Leucemia Mieloide Aguda/genética , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Resistencia a Medicamentos Antineoplásicos/genética , Feminino , Humanos , Leucemia Mieloide Aguda/tratamento farmacológico , Masculino , Pessoa de Meia-IdadeRESUMO
The expression of bleomycin-induced fragile sites (FS) in the blood lymphocytes of 150 individuals (100 oral cancer patients and 50 age and sex matched controls) is described. FS expression frequencies in oral cancer patients were significantly higher when compared with controls. FS expression was site specific in oral cancer patients. Chromosome 5 was the most affected, with four of its FS expressing in high frequencies. Enhanced expression of FS at the centromeric region was observed in the patient group. This study emphasizes the role of FS in the genetic susceptibility to oral cancer.
Assuntos
Carcinoma de Células Escamosas/genética , Fragilidade Cromossômica , Neoplasias Bucais/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Bleomicina/farmacologia , Carcinoma de Células Escamosas/epidemiologia , Sítios Frágeis do Cromossomo , Cromossomos Humanos/efeitos dos fármacos , Cromossomos Humanos Par 5/efeitos dos fármacos , Cromossomos Humanos Par 5/ultraestrutura , Feminino , Predisposição Genética para Doença , Humanos , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Neoplasias Bucais/epidemiologiaAssuntos
Cromossomos Humanos Par 5/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Trissomia/genética , Adulto , Exame de Medula Óssea , Criança , Pré-Escolar , Feminino , Humanos , Cariotipagem , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , PrognósticoRESUMO
We report cytogenetic findings from fine-needle aspiration samples of two synovial sarcoma patients. The cases are of interest because (1) one case is of a rare site (submandibular region) of the head and neck, and (2) the other is a patient with synovial sarcoma of the toe showing additional cytogenetic abnormalities along with t(X;18). The literature of this tumor is reviewed.
Assuntos
Cromossomos Humanos Par 18/genética , Sarcoma Sinovial/genética , Neoplasias da Glândula Submandibular/genética , Articulação do Dedo do Pé/patologia , Translocação Genética/genética , Cromossomo X/genética , Adulto , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
We report a case of acute myeloid leukemia (AML) [FAB-M5a] showing a deletion of the short arm of chromosome 2 at band p23 as a sole abnormality in the bone marrow cells. This abnormality deserves to be considered as an established nonrandom entity in AML.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 2/genética , Leucemia Mieloide Aguda/genética , Criança , Bandeamento Cromossômico , Humanos , Cariotipagem , MasculinoRESUMO
Cytogenetic analyses of fine-needle aspiration samples were performed on five cases of which three were alveolar rhabdomyosarcomas (RMS), one was embryonal RMS and one was RMS of mixed alveolar and embryonal histology. Three cases of alveolar RMS and one case of embryonal RMS showed t(2;13). A del(1)(p11) in a mixed alveolar and embryonal RMS was observed without the presence of t(2;13). add(17)(q25) was present in one of the alveolar RMS along with a t(2;13). Modal number of chromosome in the five cases ranged from hyperdiploid to hypertetraploid. Clinical, cytological, histopathological and cytogenetic findings are correlated. The role of additional abnormalities is discussed with a review of appropriate literature.
Assuntos
Rabdomiossarcoma/genética , Adulto , Biópsia por Agulha , Criança , Pré-Escolar , Aberrações Cromossômicas , Análise Citogenética , Feminino , Humanos , Cariotipagem , Masculino , Translocação GenéticaAssuntos
Neoplasias Ósseas/genética , Aberrações Cromossômicas , Sarcoma de Ewing/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , MasculinoRESUMO
Neuroblastoma is associated with chromosomal aberrations of 1p and 1q in a majority of cases. Some nonrandom secondary changes were observed in this study. The role of these changes in the development and progression of neuroblastoma is examined. Chromosomal analysis was performed on 33 children with neuroblastoma using fine needle aspiration cultures. Metaphases were observed in 57.5% of cases. 86.6% showed the involvement of chromosome 1. Double minutes and unidentifiable markers was also observed. The most frequent secondary changes included add(4)(q35), add(11)(p13), add(14)(q32), add(16)(q12). add(17)(p13), add(19)(q12) and add(21)(q22). Minority of cases showed deletions and translocations. Ploidy pattern ranged from diploid to hypotetraploid. The present study substantiates aberration of chromosome 1 in the form of deletions, additions, duplications and iso-chromosome with some notable secondary abnormalities.
Assuntos
Biópsia/métodos , Aberrações Cromossômicas , Neuroblastoma/genética , Adolescente , Criança , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 17 , Feminino , Deleção de Genes , Humanos , Lactente , Cariotipagem , Masculino , Metáfase , Ploidias , Translocação GenéticaRESUMO
Chromosomal analysis was performed in fine needle aspiration samples of 98 primary Ewing tumors (ETs) prior to treatment. Among the 58 (59.18%) successful cultures, t(11;22)(q24;q12) was observed in 87.9% and 6.8% had abnormalities other than t(11;22), viz., del(22)(q12), der(16)t(1;16)(q12;q11), and variant t(8;22)(q24;q12). Involvement of breakpoints 1q21, 1q22, 3p14, 16q22, and 17p13 was also observed. Numerical abnormalities such as trisomies 8 and 12 were found in 29.3% and 20.6% and trisomy 18 in 17.2%. An attempt was made to evaluate the role of these additional changes in the process of tumor development, metastasis, and progression of the disease. This is the largest cytogenetic study on ET from a single center using a simple and reliable technique of fine-needle aspiration culture. The literature on cytogenetics of ET is reviewed.
Assuntos
Neoplasias Ósseas/genética , Aberrações Cromossômicas/genética , Cromossomos Humanos 1-3/genética , Cromossomos Humanos 16-18/genética , Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 22/genética , Sarcoma de Ewing/genética , Adolescente , Adulto , Biópsia por Agulha , Neoplasias Ósseas/patologia , Criança , Pré-Escolar , Transtornos Cromossômicos , Citogenética , Feminino , Humanos , Masculino , Sarcoma de Ewing/patologiaRESUMO
Cytogenetic analysis of six non-small cell lung carcinomas (NSCLC) was carried out on overnight cultures of tumor material obtained from transthoracic fine needle aspirates to determine karyotype changes involved in the early stages of the disease. Multiple chromosome alterations were characterized. Numerical abnormalities included additional copies of chromosomes 3, 7, 8, 16, 17, and loss of chromosomes 1, 2, 6, 9, 12, 20, 21, and 22. Structural alterations included deletion or derivative chromosome 3 (band p14 or p21) in 5 patients. Clustering of other break points including 16q21, 17p13, 11p15, 15p12, 8p23, 4q27, 9p21, 12p13, 14p12, and i(Xq) was observed in the descending order of their involvement. These clonal abnormalities may be indicative of critical molecular events in the etiology of NSCLC.
Assuntos
Carcinoma Pulmonar de Células não Pequenas/genética , Aberrações Cromossômicas/genética , Neoplasias Pulmonares/genética , Adulto , Biópsia/métodos , Carcinoma Pulmonar de Células não Pequenas/patologia , Humanos , Cariotipagem , Pulmão/patologia , Neoplasias Pulmonares/patologia , Masculino , Pessoa de Meia-Idade , Ultrassonografia de IntervençãoRESUMO
Fragile site (FS) analysis was performed in 10 bronchogenic carcinoma families (non-small cell type) each represented by the patient and one adult offspring. Twenty age- and sex-matched controls were evaluated simultaneously for FS expression. The question whether increased fragility at band 3p14 exists in lung cancer patients or their offspring was examined. The expression level was found to be similar among patients, offspring, and controls.
Assuntos
Fragilidade Cromossômica , Cromossomos Humanos Par 3 , Neoplasias Pulmonares/genética , Linfócitos/ultraestrutura , Adulto , Idoso , Sítios Frágeis do Cromossomo , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
A 13-year-old girl presented with swelling in the neck, fever, bleeding of the gums, and hepatosplenomegaly. Bone marrow morphology was suggestive of erythroleukemia (AML-M6). Chromosome analysis of the marrow revealed 48,XX, +21, +21 as the sole clonal abnormality.
Assuntos
Aneuploidia , Cromossomos Humanos Par 21 , Leucemia Eritroblástica Aguda/genética , Adolescente , Medula Óssea/ultraestrutura , Feminino , Humanos , Cariotipagem , Leucemia Eritroblástica Aguda/patologiaRESUMO
Fragile site expression in blood lymphocytes of 56 individuals, including 11 Wilms tumor patients, family members, and controls, was studied by 5-fluorodeoxyuridine induction with caffeine enhancement. Significantly elevated expression of fra(11)(p13) was observed in the patient group, compared with controls. One patient clinically diagnosed with the Wilms tumor, aniridia, and genitourinary and retardation (WAGR) syndrome revealed constitutional deletion of 11p13. Expression of fra(11)(p13) in this individual was observed only on the nondeleted homologue. Among the family members studied, only one sibling showed elevated expression of fra(11)(p13).
Assuntos
Fragilidade Cromossômica , Cromossomos Humanos Par 11 , Neoplasias Renais/genética , Linfócitos/ultraestrutura , Tumor de Wilms/genética , Adulto , Criança , Pré-Escolar , Sítios Frágeis do Cromossomo , Feminino , Humanos , Lactente , MasculinoRESUMO
The expression of fragile sites (FS) in the blood lymphocytes of 54 individuals, including 11 retinoblastoma (Rb) patients, their clinically healthy family members, and corresponding age- and sex-matched controls is presented. 5-fluorodeoxyuridine (5-FdU) and caffeine were used for FS induction. Enhanced expression of fra(13)(q13.2) was observed in the patient group as compared with controls. One of the patients had a constitutional del(13)(q14.2q21.2). In this individual, only the nondeleted homologue expressed the fra(13)(q13.2). Expression of fra(13)(q13.2) in two of the patients' unaffected younger siblings of different families showed statistically significant values. The possible relation between enhanced expression of FS and the inheritance of a genetic predisposition to Rb requires further examination.
Assuntos
Fragilidade Cromossômica , Neoplasias Oculares/genética , Retinoblastoma/genética , Criança , Pré-Escolar , Deleção Cromossômica , Sítios Frágeis do Cromossomo , Cromossomos Humanos Par 13 , Feminino , Humanos , Lactente , Cariotipagem , MasculinoRESUMO
Complex translocation t(8;15;21)(q22;q21;q22) in a 9-year-old female with acute myeloblastic leukemia (M2) with bilateral chloroma is described. This particular variant type of translocation in M2 type is rare. The importance of variant translocation in defining the critical segment on the chromosomes responsible for phenotypic expression of the disease is emphasized.
