RESUMEN
We report a case of a recurrent clear cell meningioma (ccm) in the frontal lobe of the brain of a 67-year-old man. The patient developed three recurrences: at 3, 10, and 12 years after his initial surgery. Histopathology observations revealed a grade 2 ccm with positivity for vimentin and epithelial membrane antigen. Expression of E-cadherin was positive only in the primary tumour and in the first available recurrence. Fluorescence in situ hybridization analyses demonstrated 1p and 14q deletions within the last recurrence. Multiplex ligation-dependent probe amplification studies revealed a heterozygous partial NF2 gene deletion, which progressed to total loss in the last recurrence. The last recurrence showed homozygous deletions in CDKN2A and CDKN2B. The RASSF1 gene was hypermethylated during tumour evolution. In this report, we show the genetic alterations of a primary ccm and its recurrences to elucidate their relationships with the changes involved in the progression of this rare neoplasm.
RESUMEN
Glioblastoma (GBM) is the most frequent and malignant primary brain tumor. Conventional therapy of surgical removal, radiation and chemotherapy is largely palliative. Major vault protein (MVP), the main component of the vault organelle has been associated with multidrug resistance by reducing cellular accumulation of chemotherapeutic agents. With regard to cancer, MVP has been shown to be overexpressed in drug resistance development and malignant progression. The aim of the present study was to evaluate the MVP gene dosage levels in 113 archival samples from GBM and its correlation with patients' survival and epidermal growth factor receptor (EGFR) and phosphatase and tensin homolog (PTEN) gene dosages. Fluorescent in situ hybridization revealed polysomy of chromosome 7 in 76.1% of the GBMs and EGFR amplification in a 64.6% of the tumors. Genetic status of EGFR, PTEN and MVP copies was determined by multiplex ligation-dependent probe amplification (MLPA) technique. 31% of the tumors showed the EGFR is variant III mutation (EGFRvIII) mutation and 74.3% of them presented amplification of MVP gene. Amplification of EGFR and MVP was found in a 63.7% and 56.6% of the GBM, respectively. An inverse correlation between MVP and PTEN dosage values was observed. Besides, an inverse relationship between the survival of the patients treated with chemotherapy and the levels of MVP copies was determined. In conclusion, our study reveals an important role of MVP, together with EGFRvIII and PTEN, in the progression of GBM and proposes it as a novel and interesting target for new treatment approaches.
Asunto(s)
Neoplasias Encefálicas/metabolismo , Receptores ErbB/metabolismo , Regulación Neoplásica de la Expresión Génica/genética , Glioblastoma/metabolismo , Fosfohidrolasa PTEN/metabolismo , Partículas Ribonucleoproteicas en Bóveda/metabolismo , Adulto , Anciano , Neoplasias Encefálicas/genética , Cromosomas Humanos Par 7/genética , Receptores ErbB/genética , Femenino , Glioblastoma/genética , Humanos , Masculino , Persona de Mediana Edad , Mutación/genética , Fosfohidrolasa PTEN/genética , Estadísticas no Paramétricas , Adulto JovenRESUMEN
Prostate cancer (PCa) is a very heterogeneous disease, and there are constraints in its current diagnosis. Serum PSA levels, digital rectal examination (DRE), and histopathologic analysis often drive to overdiagnosis and overtreatment. Since 2005, the presence of the genetic rearrangement between transmembrane-serine protease gene (TMPRSS2) and the erythroblast transformation-specific (ETS) member ERG (v-ets erythroblastosis virus E26 oncogene homolog avian) has been demonstrated in almost half of PCa cases. Both FISH and RT-PCR are useful tools for detecting these rearrangements, but very few comparatives between both techniques have been published. In this study, we included FFPE tumors from 294 PCa patients treated with radical prostatectomy with more than 5 years of followup. We constructed a total of 20 tissue microarrays in order to perform break-apart and tricolor probe FISH approaches that were compared with RT-PCR, showing a concordance of 80.6% (P < 0.001). The presence of TMPRSS2-ERG rearrangement was observed in 56.6% of cases. No association between TMPRSS2-ERG status and clinicopathological parameters nor biochemical progression and clinical progression free survival was found. In conclusion, this study demonstrates that both FISH and RT-PCR are useful tools in the assessment of the TMPRSS2-ERG fusion gene status in PCa patients and that this genetic feature per se lacks prognostic value.
Asunto(s)
Reordenamiento Génico/genética , Hibridación Fluorescente in Situ , Proteínas de Fusión Oncogénica/genética , Neoplasias de la Próstata/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Demografía , Supervivencia sin Enfermedad , Humanos , Estimación de Kaplan-Meier , Masculino , Modelos de Riesgos Proporcionales , Neoplasias de la Próstata/patologíaAsunto(s)
Aberraciones Cromosómicas , Rabdomiosarcoma Embrionario/secundario , Neoplasias de los Tejidos Blandos/patología , Cariotipo Anormal , Preescolar , Terapia Combinada , Progresión de la Enfermedad , Supervivencia sin Enfermedad , Resultado Fatal , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Masculino , Recurrencia Local de Neoplasia , Rabdomiosarcoma Embrionario/genética , Rabdomiosarcoma Embrionario/terapia , Neoplasias de los Tejidos Blandos/genética , Neoplasias de los Tejidos Blandos/terapiaRESUMEN
Glioblastoma multiforme is the most common and most aggressive of the primary brain tumors. The mean survival of patients is 10-12 months. Conventional therapy of surgery, radiation and chemotherapy is largely palliative. Cytogenetically, karyotypes of glioblastomas are very complex with trisomy 7 and monosomy 10 as the most frequent abnormalities. A genetic alteration that is significantly more frequent in primary than in secondary glioblastomas, the latter arising from preceding low-grade gliomas, is epidermal growth factor receptor gene (EGFR) amplification, whereas TP-53 mutations are significantly more frequent in low-grade gliomas and secondary glioblastomas derived there- from. We report the histological and genetic study of two glioblastomas, one case arising de novo and the other case arising 3 years after a previously diagnosed anaplastic astrocytoma, with concurrent EGFR amplification and TP-53 mutation. These anomalies were initially deemed as mutually exclusive. However, a small percentage of cases have been found with both anomalies although at a significantly lower level than could be expected. We have analyzed these two cases cytogenetically and by molecular studies in order to detect additional alterations associated with this phenotype. Cytogenetically, both cases showed in common the monosomy of chromosomes 10 and 17. At the molecular level, a rare mutation of TP-53 was found in the secondary glioblastoma and hypermethylation of the promoter region of p16(INK4a) and p14(ARF) genes were observed in the primary and secondary glioblastoma, respectively.
Asunto(s)
Neoplasias Encefálicas/genética , Receptores ErbB/genética , Genes p53 , Glioblastoma/genética , Neoplasias Primarias Secundarias/genética , Astrocitoma/genética , Astrocitoma/metabolismo , Astrocitoma/patología , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/patología , Femenino , Amplificación de Genes , Glioblastoma/metabolismo , Glioblastoma/patología , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Mutación , Neoplasias Primarias Secundarias/metabolismo , Neoplasias Primarias Secundarias/patologíaRESUMEN
BACKGROUND AND PURPOSE: Our aim was to examine the effect of demethylnobiletin on various experimental models of delayed-type hypersensitivity (DTH) reactions and to determine its influence on the mediators and enzymes involved in these reactions. EXPERIMENTAL APPROACH: DTH was induced in mice by oxazolone, dinitrofluorobenzene (DNFB) and sheep red blood cells (SRBC). The effect of demethylnobiletin on the ensuing DTH was studied, especially in relation to oedema formation, cell infiltration and tissue damage. Its activity on different mediators implicated in DTH reactions was also determined and its effect on nitric oxide synthase (NOS)-2 analysed. Finally, its influence on T lymphocyte proliferation, apoptosis and caspase 3 activity was tested. KEY RESULTS: DTH reactions were all reduced by demethylnobiletin. The experimental results suggest that the compound may act by reducing cell infiltration and by suppressing mediators such as interleukin-2 (IC50=1.63 microM), interleukin-4 (IC50=2.76 microM), tumour necrosis factor-alpha (IC50=0.66 microM), interferon-gamma (IC50=1.35 microM), and interleukin-1 beta (46% at 2.5 microM) and by concomitantly increasing the production of the anti-inflammatory cytokine, interleukin-10. In addition, while demethylnobiletin affected nitric oxide production, it did not modify NOS-2 expression. Finally, demethylnobiletin inhibited proliferation of T cells and induced their apoptosis. CONCLUSIONS AND IMPLICATIONS: Demethylnobiletin decreased DTH reactions induced by various agents. This finding, along with the fact that the compound has a low toxicity and exhibits several other interesting properties, could pave the way for other structurally related citroflavonoids to be used as pharmacological agents in complementary therapies.
Asunto(s)
Citocinas/efectos de los fármacos , Flavonas/farmacología , Hipersensibilidad Tardía/tratamiento farmacológico , Mediadores de Inflamación/metabolismo , Linfocitos T/efectos de los fármacos , Animales , Apoptosis/efectos de los fármacos , Caspasa 3/efectos de los fármacos , Caspasa 3/metabolismo , Proliferación Celular/efectos de los fármacos , Citocinas/biosíntesis , Dinitrofluorobenceno , Modelos Animales de Enfermedad , Eritrocitos/efectos de los fármacos , Eritrocitos/metabolismo , Femenino , Regulación Enzimológica de la Expresión Génica/efectos de los fármacos , Humanos , Hipersensibilidad Tardía/fisiopatología , Ratones , Óxido Nítrico/biosíntesis , Óxido Nítrico Sintasa de Tipo II/efectos de los fármacos , Óxido Nítrico Sintasa de Tipo II/metabolismo , Oxazolona , Ovinos , Linfocitos T/metabolismoRESUMEN
Glioblastoma is the most common primary tumor of the central nervous system, but the underlying genetic changes that give rise to these tumors are still poorly understood. We report a primary glioblastoma with an unusual age of presentation. The patient was a 22-year-old man with a survival of 16 months. Morphological findings showed an increase of cellularity with positive GFAP and EGFR expression, increase of proliferate index, vascular hyperplasia with glomeruloid structures and necrosis. Molecular analysis showed EGFR amplification. No mutations of the TP53 or amplification of MDM2 and CDK4 were detected. Neither homozygous deletion of the 9p21 locus genes nor aberrant methylation were found. The cytogenetic study showed a clonal karyotype. The metaphases presented, among other anomalies, a small ring chromosome and double-minutes chromosomes. Using FISH and CGH techniques, it was found that the ring chromosome was a partial trisomy of chromosome 7, and the region implicated corresponded to 7p13-q21. Partial trisomies in glioblastoma could play an important role in defining those regions where genes implicated in this tumor process may be found. We studied the possible correlation of these findings with the tumoral phenotype.
Asunto(s)
Neoplasias Encefálicas/genética , Cromosomas Humanos Par 7 , Genes erbB-1/genética , Glioblastoma/genética , Cromosomas en Anillo , Adulto , Neoplasias Encefálicas/cirugía , Neoplasias Encefálicas/ultraestructura , Cromosomas Humanos Par 7/ultraestructura , Factor de Crecimiento Epidérmico/genética , Factor de Crecimiento Epidérmico/metabolismo , Amplificación de Genes , Proteína Ácida Fibrilar de la Glía/metabolismo , Glioblastoma/cirugía , Glioblastoma/ultraestructura , Humanos , Inmunohistoquímica , Cariotipificación , Masculino , Trisomía/patologíaAsunto(s)
Neoplasias Encefálicas/patología , Ganglioglioma/patología , Antígenos CD34/análisis , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , Antígenos CD57/análisis , Aberraciones Cromosómicas , Metilación de ADN , Ganglioglioma/genética , Ganglioglioma/metabolismo , Proteína Ácida Fibrilar de la Glía/análisis , Humanos , Inmunohistoquímica , Hibridación Fluorescente in Situ , Lactante , Cariotipificación , Antígeno Ki-67/análisis , Masculino , Fosfopiruvato Hidratasa/análisis , Sinaptofisina/análisis , Proteína p14ARF Supresora de Tumor/genética , Proteína p53 Supresora de Tumor/análisis , Vimentina/análisisRESUMEN
Glioblastoma multiforme (GBM) is characterized by intratumoral heterogeneity in both histomorphological and genetic changes, displaying a wide variety of numerical chromosome aberrations, the most common of which are trisomy 7 and monosomy 10. The amplification of the epidermal growth factor receptor (EGFR) gene is the most frequently reported genetic abnormality. The associations between these parameters and their implication in the tumoral progression are poorly understood. We performed simultaneous fluorescence in situ hybridization (FISH) with centromeric DNA probes for chromosomes 7 and 10 in smear preparations, and EGFR gene amplification by PCR from 25 cases of GBM. Trisomy/ polysomy for chromosome 7 was present in 76% of cases and monosomy 10 in 68%. Both alterations were associated in 56% of cases. The EGFR gene was amplified in 52% of tumors; in 44% associated with trisomy/ polysomy 7, and in 36% with monosomy 10. The three parameters were associated together in 28% of cases. Kaplan-Meier survival rate analysis demonstrated lower survival rates in patients with monosomy 10, trisomy 7, and monosomy associated with trisomy 7. The other combinations were not different in frequency in relation to survival. In the present study, trisomy/polysomy 7 and monosomy 10 have been found to be frequently associated. The combination of both anomalies is probably important in the tumorigenesis of glioblastoma. Moreover, this association is apparently independent of EGFR gene amplification, which could be a later event in this process.
Asunto(s)
Neoplasias Encefálicas/genética , Cromosomas Humanos Par 10/genética , Cromosomas Humanos Par 7/genética , Receptores ErbB/biosíntesis , Amplificación de Genes , Glioblastoma/genética , Adulto , Anciano , Biomarcadores de Tumor/análisis , Neoplasias Encefálicas/mortalidad , Neoplasias Encefálicas/patología , Niño , Receptores ErbB/genética , Femenino , Glioblastoma/mortalidad , Glioblastoma/patología , Humanos , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Pronóstico , Análisis de SupervivenciaRESUMEN
Los meningiomas son tumores del sistema nervioso central con amplia heterogeneidad morfológica. Aunque son generalmente benignos, tienen la capacidad de evolucionar a un grado histológico mayor (atípico y anaplásico) que está relacionado con un incremento de su agresividad biológica y/o la capacidad de recidivar. Esta evolución se caracteriza a nivel citogenético por la monosomía total o parcial del cromosoma 22 en la etapa más temprana, seguida de cambios cromosómicos secundarios tanto numéricos como estructurales durante la progresión tumoral.En este trabajo presentamos una revisión sobre 85 casos de meningiomas, 43 benignos, 28 atípicos y 14 malignos, estudiando sus características clínicas, histopatológicas y citogenéticas, obteniéndose que la introducción de anomalías numéricas como la monosomía 10, 14 y 18, y anomalías estructurales como deleciones del cromosoma Ip están directamente relacionadas con los tumores de mayor agresividad, y especialmente, la combinación de alteraciones en el cromosoma Ip y 14 se presenta con mayor frecuencia en los meningiomas atípicos y anaplásicos. Estos hechos significan que la presencia de cariotipos complejos aumenta progresivamente desde los meningiomas de grado I a los meningiomas de grado III. Así mismo, estos cariotipos son los más habituales en los tumores recidivantes. (AU)
Asunto(s)
Persona de Mediana Edad , Adulto , Anciano , Masculino , Femenino , Humanos , Aberraciones Cromosómicas , Progresión de la Enfermedad , Meningioma , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 22 , Citogenética , Cariotipificación , Neoplasias Meníngeas , Estadificación de NeoplasiasRESUMEN
Meningiomas are tumors of the central nervous system with a great morphological heterogeneity. They are generally benign, and have the capacity to progress to a higher histological grade (atypical and anaplastic), which is associated with an increase in biological aggressivity and/or capacity to recur. Citogenetically this evolution is characterized by total or partial monosomy 22 in the early phase, continued by numerical and structural changes during tumor progression. In this study, we present a review of 85 cases of meningiomas: 43 benign, 28 atypical and 14 anaplastic. We study the clinical and histopathological features, and their correlation with cytogenetie abnormalities present in these tumors. Numerical aberrations such as monosomy of chromosome 10, 14 and 18, and structural abnormalities such as deletions on 1p are directly associated with a higher agressivity of tumors. An association of aberatons on 1p and chromosome 14 are more commonly found in atypical and anaplastic meningiomas. These facts imply that the presence of complex karyotypes progressively increases from grade I to grade III meningiomas. Furthermore, these karyotypes are common in recurrent tumors.
Asunto(s)
Aberraciones Cromosómicas , Citogenética/métodos , Neoplasias Meníngeas/genética , Neoplasias Meníngeas/patología , Meningioma/genética , Meningioma/patología , Adulto , Anciano , Cromosomas Humanos Par 1/genética , Cromosomas Humanos Par 14/genética , Cromosomas Humanos Par 22/genética , Progresión de la Enfermedad , Femenino , Humanos , Cariotipificación , Masculino , Persona de Mediana Edad , Estadificación de NeoplasiasRESUMEN
Deletion of 1p is associated with histological progression to meningiomas. Detection of this alteration may be a predicting factor for recurrences in this tumor. We present 8 meningiomas from four patients: the original tumor and the first recurrence in one patient, and the first and second recurrences in the other three were studied. We compared results of monosomy 22 and deletion of chromosome 1p with cytogenetic methods and fluorescence in situ hybridization (FISH) analysis obtained from slides of direct preparations, of cultured cells and slides of touch preparations. The cytogenetic study showed normal chromosome 22 and deletion on 1p32 in both samples of one patient; only monosomy 22 in both recurrences in another patient, and normal karyotypes with different non-clonal anomalies in the other tumors. However, with FISH analysis, monosomy 22 in both recurrences of three patients was demonstrated, as well as the loss of 1p in all tumors. These results were more evident in the analysis of direct and touch preparations than in those of cultured cells.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 1/ultraestructura , Neoplasias Meníngeas/genética , Meningioma/genética , Recurrencia Local de Neoplasia/genética , Adulto , Anciano , Rotura Cromosómica , Cromosomas Humanos Par 22 , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Neoplasias Meníngeas/patología , Neoplasias Meníngeas/cirugía , Meningioma/patología , Meningioma/cirugía , Persona de Mediana Edad , Monosomía , Recurrencia Local de Neoplasia/patología , Células Tumorales Cultivadas/ultraestructuraRESUMEN
A rat cell line-nominated CC-62 derived from a combined hepatocellular and cholangiocellular carcinoma obtained by administration of 2-acetylaminofluorene to male Wistar rats, has been established. Using light and electron microscopy it was determined that morphologically the tumor consisted of a mixed population of hepatocytes and cholangiolar neoplastic cells, intermingled with small, undifferentiated oval-like cells. The CC-62 line has been maintained through 90 passages in culture adopting a paving stone arrangement. Doubling time at the 12th passage was 23 h. Immunostaining with a panel of antisera was performed to identify the cytological profiles of the cell line. There was no k-ras or p53 expression by immunohistochemistry, and molecular biology failed to detect mutations. Molecular analysis by reverse transcriptase-polymerase chain reaction revealed transcripts for c-met but no expression of HGF messenger ribonucleic acid. Three cell lines cloned from CC-62 showed the same immunohistochemical and molecular pattern as the parental line. Cytogenetic analysis revealed a chromosome number ranging from 74 to 82 with a modal number of 79 but no clonal structural abnormalities were found. Deoxyribonucleic acid ploidy analysis showed an aneuploid peak. CC-62 caused tumors 1 mo after subcutaneous transplantation into nude mice, with morphological patterns of mucosecretory solid and spindle-shaped carcinoma. This cell line is the first established from a primary rat combined hepatocellular and cholangiocellular neoplasm. The resulting cells expressed biological and morphological markers of hepatocytes and cholangiolar cells. Therefore this cell line may contribute to a better understanding of the histogenesis of liver cancer.
Asunto(s)
Neoplasias de los Conductos Biliares/patología , Carcinoma Hepatocelular/patología , Colangiocarcinoma/patología , Neoplasias Hepáticas/patología , Células Tumorales Cultivadas/citología , 2-Acetilaminofluoreno , Aneuploidia , Animales , Neoplasias de los Conductos Biliares/química , Neoplasias de los Conductos Biliares/ultraestructura , Conductos Biliares Intrahepáticos , Carcinoma Hepatocelular/inducido químicamente , Carcinoma Hepatocelular/ultraestructura , Colangiocarcinoma/inducido químicamente , Colangiocarcinoma/ultraestructura , ADN de Neoplasias/análisis , Genes ras , Factor de Crecimiento de Hepatocito/metabolismo , Inmunohistoquímica , Cariotipificación , Neoplasias Hepáticas/inducido químicamente , Neoplasias Hepáticas/ultraestructura , Masculino , Ratones , Ratones Desnudos , Microscopía Electrónica , Proteínas Proto-Oncogénicas c-met/metabolismo , Ratas , Ratas Wistar , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Trasplante Heterólogo , Células Tumorales Cultivadas/ultraestructura , Proteína p53 Supresora de Tumor/metabolismoRESUMEN
Atypical teratoid/rhabdoid tumor of the central nervous system is a rare childhood tumor with a distinct histologic appearance and an aggressive clinical course. Few tumors have been analyzed cytogenetically. The only consistent chromosomal abnormality identified in some of these tumors has been monosomy or deletions of chromosome 22; in others, a normal chromosome 22 was present. The authors report an atypical teratoid/rhabdoid neoplasm of the central nervous system with a novel complex rearrangement affecting chromosomes 6 and 11 as the sole anomaly. The involvement of region 11p15 could be important in the pathogenesis of this entity.
Asunto(s)
Neoplasias del Sistema Nervioso Central/genética , Aberraciones Cromosómicas , Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 6/genética , Tumor Rabdoide/genética , Teratoma/genética , Neoplasias del Sistema Nervioso Central/patología , Niño , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Tumor Rabdoide/patología , Cromosomas en Anillo , Teratoma/patología , Translocación GenéticaRESUMEN
Although trisomy of chromosome 21 is the most prevalent human genetic disorder, data from partial 21 aneuploidies are very scanty. Eight different partial aneuploidies for chromosome 21 were characterised by fluorescence quantitative PCR. Allelic dosage analysis was performed for each patient using 25 CHLC STRs covering the entire q arm. The length of the corresponding trisomies and monosomies was ascertained for five partial trisomics and three partial monosomics. All trisomic patients carried unbalanced translocations involving chromosome 21, whereas one of the monosomic patients bore a ring chromosome 21 and another showed an interstitial deletion of chromosome 21. The chromosomal breakpoints of two partial trisomy patients could be clearly delimited. However, the other three trisomies involved most of the 21 q arm as three allelic doses were detected for each marker. Although these latter patients do not show all the features of Down syndrome, genotype/phenotype correlations agree with previously reported data. The chromosomal breakpoints observed in two partially monosomic patients helped further to define the region involved in different phenotypic features associated with chromosome 21 monosomy. Telomeric material loss was also detected in a patient bearing a ring 21 chromosome. The parental origin of the aneuploidy was assigned for each case, which allowed us to conclude that two of the monosomic cases originated from de novo chromosomal rearrangements. There was no correlation with parental sex in contrast to trisomic patients originating from meiotic nondisjunction.
Asunto(s)
Aneuploidia , Aberraciones Cromosómicas/genética , Cromosomas Humanos Par 21 , Deleción Cromosómica , Trastornos de los Cromosomas , Síndrome de Down , Femenino , Fluorometría , Humanos , Masculino , Repeticiones de Microsatélite/genética , Reacción en Cadena de la PolimerasaRESUMEN
Uterine sarcomas are approximately 3% of all malignant uterine corpus tumours. Of these, the tumours that originate solely in the stromal elements of the uterine wall are infrequent and have not been well characterized cytogenetically. We report two cases of endometrial stromal sarcomas (ESS), one low grade and one high grade, diagnosed by conventional histology, immunocytochemistry, electron microscopy and cytogenetics. Morphologically clear-cut differential structures were seen at optical, immunohistochemical, and electron microscopic levels, permitting a clear differential diagnosis. The low-grade ESS expressed hormonal receptors and vimentin, whereas the high-grade ESS showed no hormone receptors, high Ki-67 activity, and occasional cytokeratin-positive cells. Ultrastructurally, no malignant epithelial differentiation was seen in the tumour cells, but cilia were found in both cases. Cytogenetic study of the low-grade ESS showed pseudodiploid karyotype with chromosomes 6 and 20 rearranged. The high-grade ESS showed a complex karyotype with clonal numerical and structural anomalies. The chromosomes involved in the structural rearrangements were 1, 3, 6, 7, 13, 14, 15, 17, 19, and 21.
Asunto(s)
Neoplasias Endometriales/patología , Sarcoma Estromático Endometrial/patología , Anciano , Biomarcadores de Tumor/análisis , Aberraciones Cromosómicas/genética , Bandeo Cromosómico , Trastornos de los Cromosomas , Cromosomas Humanos Par 20/genética , Cromosomas Humanos Par 6/genética , Terapia Combinada , Neoplasias Endometriales/química , Neoplasias Endometriales/genética , Neoplasias Endometriales/terapia , Resultado Fatal , Femenino , Humanos , Técnicas para Inmunoenzimas , Cariotipificación , Microscopía Electrónica , Persona de Mediana Edad , Sarcoma Estromático Endometrial/química , Sarcoma Estromático Endometrial/genética , Sarcoma Estromático Endometrial/terapiaRESUMEN
The cytogenetic analysis of a spindle-cell rhabdomyosarcoma of the parotid gland in a 6-year-old boy is reported. The tumor cells showed an abnormal karyotype with a hypotriploid modal chromosome number and clonal structural rearrangements affecting chromosomes 1, 8, 12, 21, and 22. The tumor karyotype was: 59, XY, -1, -3, -4, -5, -6, +8, +8, +del(8)(q22q24), -9, -10, del(12)(q13), -15, -16, -17, -18, der(21)t(12;21)(p11;p11), -22, der(22)t(1;22)(q12;p11).
Asunto(s)
Neoplasias de la Parótida/genética , Neoplasias de la Parótida/patología , Rabdomiosarcoma/genética , Rabdomiosarcoma/patología , Actinas/metabolismo , Animales , Niño , Aberraciones Cromosómicas , Cromosomas Humanos , Desmina/metabolismo , Humanos , Inmunohistoquímica , Cariotipificación , Masculino , Ratones , Ratones Desnudos , Mioglobina/metabolismo , Miosinas/metabolismo , Trasplante de Neoplasias , Neoplasias de la Parótida/terapia , Rabdomiosarcoma/terapia , Trasplante Heterólogo , Vimentina/metabolismoAsunto(s)
Aberraciones Cromosómicas/genética , Deleción Cromosómica , Cromosomas Humanos Par 1/genética , Cromosomas Humanos Par 20/genética , Translocación Genética/genética , Preescolar , Aberraciones Cromosómicas/diagnóstico , Trastornos de los Cromosomas , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , SíndromeRESUMEN
Cytogenetic analyses of four malignant mixed mesodermal tumors (MMMT) of the uterus are reported, of which one was of the homologous type and three of the heterologous. Karyotypic analyses were obtained in two cases from original tumors and in two cases from tumors xenotransplanted into nude mice. The karyotype of the homologous MMMT was normal in three different passages of a nude mice xenograft line established from the primary tumor. The heterologous tumors showed normal karyotype in one case and hyperdiploid and near triploid range with extensive numerical and structural rearrangements in two cases. Deletion of chromosome 1 at p32, and deletion of chromosome 11 at q13 were common markers in anomalous cases. The chromosomes most often involved in structural rearrangements were chromosomes 1, 9, 11, 12, 17, and 19. Double minutes, homogeneously staining regions, and telomeric association were also seen.
Asunto(s)
Tumor Mesodérmico Mixto/patología , Neoplasias Uterinas/patología , Anciano , Animales , Aberraciones Cromosómicas , Femenino , Humanos , Cariotipificación , Ratones , Persona de Mediana Edad , Tumor Mesodérmico Mixto/genética , Trasplante de Neoplasias , Neoplasias Uterinas/genéticaRESUMEN
Medulloblastoma is the most common primitive neuroectodermal tumor (PNET) in children, but is very rare in adults. An isochromosome for the long arms of 17, i(17q), is found in about 30% of pediatric cases. Cytogenetic studies in adults are very scarce; only six cases have been described cytogenetically: three cases had normal karyotype, two were studied partially, and another presented only two clonal structural anomalies: del(9)(q12) and del(11)(q22). We studied the chromosomes from medulloblastoma in a 27-year-old woman and found one hypotetraploid stemline with clonal alterations. In the structural anomalies, chromosomes 3, 9, 12, and i(17q) were involved. Chromosome 9 presented a deletion in the long arm, del(9)(q13), with consequent loss of the 9q13-->qter region. This anomaly was similar to one found in a previous case. We suggest that the partial loss of the long arm of chromosome 9 may be a characteristic change of adult medulloblastoma.