RESUMEN
A cytogenetic analysis of 14 primary testicular nonseminomatous germ cell tumors has been carried out after short term tissue culture. The modal chromosome numbers ranged from 53 to 113, in agreement with flow cytometric determination of the DNA content of the tumors. At least one copy of an i(12p) was present in 12 tumors. Two tumors, however, lacked that marker. Some chromosomes are apparently overrepresented, whereas others are underrepresented, although some differences between seminomas and nonseminomas were noticed.
Asunto(s)
Aberraciones Cromosómicas/patología , Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias Testiculares/genética , Análisis de Varianza , Aneuploidia , Trastornos de los Cromosomas , Humanos , Cariotipificación , Masculino , Neoplasias de Células Germinales y Embrionarias/patología , PloidiasRESUMEN
A cytogenetic analysis of ten seminomas has been carried out after direct harvesting of the tumor cells. Modal chromosome numbers ranged from 63 to 112. These numbers were in agreement with flow cytometric determination of the DNA content of the tumors. Eight tumors had at least one copy of an i(12p) among other chromosomal abnormalities. Two seminomas lacked the i(12p).
Asunto(s)
Disgerminoma/genética , Neoplasias Testiculares/genética , Adulto , Aberraciones Cromosómicas , Trastornos de los Cromosomas , ADN de Neoplasias/análisis , Humanos , Cariotipificación , Masculino , Persona de Mediana EdadRESUMEN
A cytogenetic analysis of 13 mature residual teratomas following chemotherapy revealed modal chromosome numbers ranging from 52 to 85, in agreement with the flow cytometric determination of the DNA content of the tumors. At least one copy of an i(12p) was present in 12 tumors. One tumor, however, lacked that marker. The comparison between the chromosomal abnormalities found in mature residual teratomas following chemotherapy and those from primary testicular nonseminomas suggests that residual teratomas result from selection of clones from the primary tumor with a less abnormal karyotype.
Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Aberraciones Cromosómicas , Trastornos de los Cromosomas , Teratoma/genética , Neoplasias Testiculares/genética , Adulto , Citometría de Flujo , Humanos , Cariotipificación , Masculino , Persona de Mediana Edad , Teratoma/tratamiento farmacológico , Neoplasias Testiculares/tratamiento farmacológicoRESUMEN
The cytogenetic findings in both components of a combined germ cell tumor of the testis are described. The only structural chromosomal abnormality in common was an i(12p).
Asunto(s)
Aberraciones Cromosómicas , Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias Testiculares/genética , Adulto , Disgerminoma/genética , Disgerminoma/patología , Humanos , Cariotipificación , Masculino , Neoplasias de Células Germinales y Embrionarias/patología , Neoplasias Testiculares/patologíaRESUMEN
We describe a sclerosing stromal tumor (SST) of the ovary with monosomy of chromosome 16 and pathologic features consistent with a low-grade malignancy. So far, all described cases of SST were considered benign.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 16 , Monosomía , Neoplasias Ováricas/genética , Adulto , Femenino , Humanos , Cariotipificación , Neoplasias Ováricas/patologíaRESUMEN
In essence, two models exist of the pathogenetic relationship between seminomas and nonseminomatous germ cell tumors (NSGCTs). In the first model, the histogenesis of seminomas is assumed to diverge from that of the other testicular germ cell tumors (TGCTs) at an early stage. The neoplastic pathway of seminomas and NSGCTs is different, with limited or no crossover. The second model suggests that seminomas and NSGCTs have a common origin with a single neoplastic pathway on which seminomas are an intermediate stage in development of NSGCTs. Our data on the cytogenetics and ploidy of seminomas, combined tumors, and NSGCTs lend support to the model of pathogenesis of seminomas and NSGCTs in which all TGCTs (with the possible exception of spermatocytic seminoma and infantile yolk sac tumor) have a single origin and neoplastic pathway, with seminomas representing an intermediate stage in development of NSGCT components, as opposed to the model in which seminomas and NSGCTs develop separately. The progression of TGCTs probably proceeds from high to lower numbers of chromosomes and is therefore accompanied by a net loss of chromosomal material. This decrease will be the end result of loss of specific chromosomes, gain of some other chromosomes (or part of chromosomes), and development of structural abnormalities.
Asunto(s)
Aberraciones Cromosómicas , Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias Testiculares/genética , Carcinoma in Situ/genética , ADN de Neoplasias/análisis , Disgerminoma/genética , Humanos , Masculino , Modelos Biológicos , Neoplasias de Células Germinales y Embrionarias/etiología , Ploidias , Neoplasias Testiculares/etiologíaRESUMEN
We report on a malignant germ cell tumor located in the anterior mediastinum. After chemotherapy the tumor was classified as residual teratoma with sarcomatous components. There was extensive hematopoiesis in the tumor tissue. The tumor cells had a modal chromosome number of 76; the only structural abnormality was a deletion of the long arm of chromosome 9. An i(12p) chromosome was lacking in this tumor. Karyotyping of peripheral blood and bone marrow occasionally showed metaphases with numerical and structural abnormalities, probably related to chemotherapy. The patient died within two years after the initial diagnosis, of a poorly differentiated hematopoietic malignancy, probably of myelomonocytic origin, based on morphology and the fact that non-specific esterase activity was demonstrated in the tumor cells. The karyotype of this malignancy was highly abnormal, but unrelated to that of the mediastinal malignant GCT. In this case there is no proof that the secondary malignancy was derived from the primary mediastinal malignant GCT. In view of the multiple aneuploid stem lines in the primary tumor, this possibility cannot be dismissed either.
Asunto(s)
Neoplasias del Mediastino/patología , Teratoma/patología , Adulto , ADN de Neoplasias/análisis , Eritropoyesis , Hematopoyesis , Humanos , Cariotipificación , Masculino , Neoplasias del Mediastino/genética , Ploidias , Teratoma/genéticaRESUMEN
We present the result of the cytogenetic study of a case of osteosarcoma that revealed a very complex karyotype with a modal chromosome number of 93 and several structural chromosomal abnormalities.
Asunto(s)
Aberraciones Cromosómicas , Neoplasias Femorales/genética , Osteosarcoma/genética , Niño , Bandeo Cromosómico , Femenino , Humanos , CariotipificaciónRESUMEN
Cytogenetic analysis was performed of three seminomas, two primary nonseminomas, and two mature residual teratomas following chemotherapy, all lacking i(12p). Testicular germ cell tumors without an i(12p) may represent a subgroup of germ cell tumors, also in their clinical course, compared with those having i(12p).
Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos Par 12 , Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias Testiculares/genética , Adulto , Bandeo Cromosómico , Marcadores Genéticos , Humanos , Cariotipificación , Masculino , Persona de Mediana Edad , Neoplasias de Células Germinales y Embrionarias/clasificación , Teratoma/genética , Neoplasias Testiculares/clasificaciónRESUMEN
We have been able to study the karyotypes and measure the DNA content in both the primary nonseminomatous germ cell tumor of the testes and the residual mature teratoma after chemotherapy of the same patient. Based on these and other studies, the mechanism of therapy-related differentiation in germ cell tumors of the testes is discussed.
Asunto(s)
Aberraciones Cromosómicas , Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias Retroperitoneales/genética , Teratoma/genética , Neoplasias Testiculares/genética , Adulto , ADN de Neoplasias/análisis , Marcadores Genéticos , Humanos , Cariotipificación , Neoplasias Pulmonares/secundario , Masculino , Neoplasias de Células Germinales y Embrionarias/patología , Neoplasias de Células Germinales y Embrionarias/terapia , Neoplasias Retroperitoneales/patología , Neoplasias Retroperitoneales/secundario , Teratoma/patología , Teratoma/secundario , Neoplasias Testiculares/patología , Neoplasias Testiculares/terapiaRESUMEN
The cytogenetics of 12 cases of renal adenocarcinoma are presented. Clonal abnormalities were found in nine patients. Worth mentioning are abnormalities of the X chromosome (1 X) and the chromosomes #1(3 X), #3(3 X), #7(4 X), #8(4 X), and #14(2 X). From our data and data from the literature it appeared that the chromosomal regions 3p11-p21, 1q21, 14q22, and Xp11 are important for the oncogenesis of renal cell carcinoma as well as increased dosage of chromosome #7 and loss or abnormalities of chromosomes #8 and #14.
Asunto(s)
Carcinoma de Células Renales/genética , Aberraciones Cromosómicas , Neoplasias Renales/genética , Adolescente , Adulto , Anciano , Niño , Preescolar , Bandeo Cromosómico , Femenino , Marcadores Genéticos , Humanos , Cariotipificación , Masculino , Persona de Mediana EdadRESUMEN
The first karyotype of an orchidoblastoma is described. The most striking finding is the absence of the i(12p) marker chromosome, considered specific for testicular germ cell tumors of adults. Differences between infantile and adult testicular germ cell tumors are discussed, as are features that infantile testicular germ cell tumors have in common with extragonadal germ cell tumors.
Asunto(s)
Aberraciones Cromosómicas , Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias Testiculares/genética , Factores de Edad , ADN de Neoplasias/análisis , Citometría de Flujo , Humanos , Lactante , Cariotipificación , Masculino , Mesonefroma/genética , Mesonefroma/patología , Neoplasias de Células Germinales y Embrionarias/patología , Neoplasias Testiculares/patologíaRESUMEN
We karyotyped a metastasis composed of pure yolk sac tumor derived from a primary ovarian germ cell tumor with two components: a dermoid cyst [DNA index (DI) 1.0] and a pure yolk sac tumor (DI 1.88). The metastatic yolk sac tumor had a hypertriploid karyotype and a DI of 1.78 and lacked the germ cell tumor marker i(12p). The absence of this marker in a metastasis from a tumor with a dermoid cyst component might be indicative for a pathogenesis of the yolk sac tumor similar to that of a dermoid cyst and different from that of dysgerminoma.
Asunto(s)
Aberraciones Cromosómicas , ADN de Neoplasias/análisis , Mesonefroma/genética , Neoplasias Ováricas/genética , Complicaciones Neoplásicas del Embarazo , Adulto , Quiste Dermoide/genética , Quiste Dermoide/patología , Femenino , Citometría de Flujo , Marcadores Genéticos , Humanos , Cariotipificación , Mesonefroma/patología , Metástasis de la Neoplasia , Neoplasias Ováricas/patología , EmbarazoRESUMEN
A malignant mixed gonadal stromal tumor with mesenchymal heterologous elements of the testis is presented. This entity has been described in the ovary, but not hitherto in the testis. Karyotyping and ploidy measurement was done of the primary tumor and of an inguinal and lung metastases. The DNA ploidy and modal chromosome numbers were in agreement with each other in all samples. The most significant cytogenetic finding was the presence of the metacentric germ cell tumor marker i(12p) in an inguinal metastasis. This marker has been demonstrated in testicular and ovarian germ cell tumors and in a mixed Müllerian tumor, which raises the question of a possible relationship between the pluripotency of these tumors and the presence of i(12p).
Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos Par 12 , Neoplasias Testiculares/genética , Bandeo Cromosómico , Marcadores Genéticos , Tumores de Células Gigantes/genética , Tumores de Células Gigantes/patología , Humanos , Cariotipificación , Tumor de Células de Leydig/genética , Tumor de Células de Leydig/patología , Neoplasias Pulmonares/secundario , Masculino , Persona de Mediana Edad , Osteosarcoma/genética , Osteosarcoma/patología , Neoplasias Testiculares/patologíaRESUMEN
Data from cytogenetics of testicular, ovarian and extragonadal germ cell tumours indicate that the group of germ cell tumours for which Skakkebaek proposed the name gonocytoma (seminoma, dysgerminoma and germinoma) is characterized by the presence of isochromosome 12p. The (dysplastic) gonocytes from which these tumours are derived are prone to polyploidization, especially in the gonads. There is evidence that non-seminomatous germ cell tumours in the testis may evolve through a (subclinical?) gonocytoma stage by loss of chromosomes. Since gonocytomas have already acquired the i(12p) marker, evolution of non-seminomatous germ cell tumours from gonocytomas would explain the presence of i(12p) in non-seminomatous germ cell tumours of the adult testis. A similar evolution may account for the presence of i(12p) in testicular type non-seminomatous germ cell tumours occurring in the ovary and extragonadally.
Asunto(s)
Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias Ováricas/genética , Ploidias , Neoplasias Testiculares/genética , Transformación Celular Neoplásica/genética , Femenino , Humanos , MasculinoRESUMEN
The ploidy of testicular germ cell tumors (GCT), a heterogeneous group of neoplasms, was studied by DNA flow cytometry. The DNA index for infantile yolk sac tumor (N = 10), seminomas (N = 20), and nonseminomas (N = 36), was: 1.91, 1.66, and 1.43, respectively. These values differed significantly one from another (p less than 0.01). The seminoma and nonseminoma components of combined tumors (N = 16) had a significantly different median DNA index of 1.61 and 1.40, respectively. Three of the 10 infantile yolk sac tumors, but only one of the 72 testicular GCT of adults were diploid. The consistent aneuploidy of testicular GCTs of adults might be helpful in the differential diagnosis of primary nongerm cell tumors of the testis, and in differentiating between metastases of testicular GCTs and primary extragonadal malignant GCTs. These data fit into a model of pathogenesis of testicular GCTs of adults in which all tumors, with the possible exception of spermatocytic seminoma, pass through a seminoma stage. Tumor evolution seems to result from net loss of chromosomes from a (near)tetraploid carcinoma in situ cell. The pathogenesis of infantile yolk sac tumor might be different from that of testicular GCTs of adults.
Asunto(s)
ADN de Neoplasias/análisis , Neoplasias de Células Germinales y Embrionarias/genética , Ploidias , Neoplasias Testiculares/genética , Aneuploidia , Coriocarcinoma/etiología , Coriocarcinoma/genética , Coriocarcinoma/patología , Diploidia , Disgerminoma/etiología , Disgerminoma/genética , Disgerminoma/patología , Citometría de Flujo , Humanos , Inmunohistoquímica , Masculino , Mesonefroma/etiología , Mesonefroma/genética , Mesonefroma/patología , Neoplasias de Células Germinales y Embrionarias/etiología , Neoplasias de Células Germinales y Embrionarias/patología , Teratoma/etiología , Teratoma/genética , Teratoma/patología , Neoplasias Testiculares/etiología , Neoplasias Testiculares/patologíaRESUMEN
The ploidy of carcinoma in situ and invasive germ cell tumors of the adult testis was compared by DNA flow cytometry. Irrespective of the tumor type with which it was associated, the median DNA index of carcinoma in situ was about the same as that of seminomas and higher than the DNA index of invasive nonseminomatous germ cell tumors. These data indicate that seminoma and carcinoma in situ cells are not only phenotypically similar but also have the same ploidy.