1/677. The alveolar soft-part sarcoma. A clinically malignant, neuro-endocrine tumor, possibly originating from the tissue composing the paraganglia. The cases of two young women with alveolar soft-part sarcomas (ASPS) in one of the upper extremities are reported. The ASPS is a relatively rare malignant tumor of the soft parts that grows slowly and shows a predilection for the extremities; it occurs most often in young women. The tumor is deceptive in that the clinical impression is benign. So far, the only method of treatment is ample surgical excision. The tumor appears to be scarcely radio-sensitive and primary cytostatic therapy gives very little response. Histogenetically, the tumor is related to the neuro-endocrine paraganglion system. The long-term prognosis of the tumor is unfavorable. ( info) |
2/677. Ovarian dysgerminoma, investigations on cell-and humoral-mediated immunologic reactions. A 17-year-old girl with repeated ovarian dysgerminoma is described. Postoperative immunologic investigations prior to irradiation showed a transient increased cell--an humoral--mediated immunologic responsiveness of the patient for approximately 2 1/2 months. After irradiation, a markedly defective response to PHA was observed which improved when reexamined 11 months later. The patient is well 22 months after the second operation. ( info) |
3/677. Primary mediastinal seminoma. Four new cases of primary mediastinal seminoma are presented, and the 103 previously reported cases reviewed. All of the tumors occurred in the anterior mediastinum, and generally appeared as lobulated noncalcified masses on chest radiography. Most patients were in the third and fourth decades, and about 30% were asymptomatic at the time of initial diagnosis. Although mediastinal seminoma is not commonly considered a cause of superior vena caval obstruction, about 10% of patients experience it. The tumors are radiosensitive and potentially radiocurable. A striking reduction in size of the tumor may be noted after radiation therapy. prognosis is generally good, with a 5-year survival rate of 75%. The controversy surrounding histogenesis of this tumor is reviewed, and the pathologic criteria for making the diagnosis presented. ( info) |
4/677. Malignant testicular tumors in three brothers. Three brothers out of four had malignant testicular tumors. The first of them had choriocarcinoma, the second seminoma, and the third teratocarcinoma of the testis. ( info) |
5/677. A frame shift mutation in the dna-binding domain of the androgen receptor gene associated with complete androgen insensitivity, persistent mullerian structures, and germ cell tumors in dysgenetic gonads. OBJECTIVE: To describe the molecular, cytogenetic, immunohistochemical, and endocrinologic characteristics of a young 46,XY female with persistent mullerian structures and germ cell tumors in dysgenetic gonads. DESIGN: Descriptive case study. SETTING: Mackay Memorial Hospital and National Yang-Ming University, Taipei, taiwan. PATIENT(S): A 22-year-old 46,XY female with persistent mullerian structures, a low level of serum testosterone, and no apparent adnexal masses. INTERVENTION(S): Laparoscopic removal of the dysgenetic gonads. MAIN OUTCOME MEASURE(S): Detection of an androgen receptor gene mutation by a semiautomated dna sequencer, of the chromosomal complement by cytogenetic examination, of placental alkaline phosphatase activity by immunohistochemical analysis, and of neoplasms in dysgenetic gonads by histologic studies. RESULT(S): A unilateral gonadoblastoma and a contralateral gonadoblastoma associated with a dysgerminoma were found in the excised gonads. The tumors had a 46,XY complement. Placental alkaline phosphatase was present in the tumor cells. A frameshift mutation in the dna-binding domain of the androgen receptor gene was detected in the patient's blood and the tumor tissues. A five-nucleotide "AGGAA" deletion at codons 608 and 609 of the androgen receptor gene resulted in a missing arginine and lysine as well as a frameshift that introduced a stop codon 12 amino acid downstream from the mutation. CONCLUSION(S): Molecular genetic analysis of the androgen receptor gene aids in the rapid diagnosis of complete androgen insensitivity irrespective of atypical clinical phenotypes and endocrinologic parameters. ( info) |
| We report three patients with XY pure gonadal dysgenesis. Two of these patients developed gonadoblastoma and associated dysgerminoma. Molecular analyses were undertaken to investigate the relationship between the formation of these tumors and Y chromosome aberrations. Deletion analyses were performed by polymerase chain reaction (PCR) amplification of y chromosome-specific dna sequences (PABY, SRY, DYS250, DYS254, and DYZ1). A cryptic deletion of the short arm of the y chromosome that included the PABY, SRY, DYS250, and DYS254 loci was observed in one of the patients (22-years-old) with an associated tumor. In the other two patients who did not demonstrate such a deletion, the sequence of the SRY open reading frame was determined by the dideoxynucleotide method. Two nucleotide substitutions followed by a seven nucleotide deletion were observed in the 3' end of HMG (high mobility group)-box in the other patient (15-years-old) with an associated tumor. The patient (22-years-old) without an associated tumor did not have the cryptic deletion or mutation of SRY. A y chromosome specific sequence (DYZ1) was demonstrated by PCR amplification of microdissected tumor tissues from these two patients. These results suggest that SRY may play a role in the formation of gonadal tumors, especially dysgerminoma. ( info) |
| A 13-year-old G(0)P(0) white female with trisomy 21 presented with a complex pelvic mass. She underwent resection of the mass and complete staging for what was found to be a stage IIIC completely resected dysgerminoma. She was treated with three cycles of bleomycin, etoposide, and cisplatin chemotherapy and remains free of disease 1 year later. This association is presented as a rare case that may illustrate the relative increase in germ cell neoplasms in female patients with Down's syndrome. While the association of seminoma with Down's syndrome has been documented in a number of cases in males, the female counterpart of this tumor, dysgerminoma, in trisomy 21 has been reported quite infrequently. The potential for germ cell tumors in both male and female trisomy 21 is therefore illustrated. ( info) |
| serum human chorionic gonadotropin levels were determined in 20 patients with histologically proved seminoma. The test was positive in 2 of the 20 patients and was predictive of non-seminomatous metastasis in each case. serum human chorionic gonadotropin is a useful tumor marker in detecting and following non-seminomatous metastases in men with pure seminoma of the testis. ( info) |
9/677. Sequential CT observations of irradiated intracranial germinomas. Computed tomography (CT) has improved the accuracy of preoperative diagnosis of intracranial tumors. CT findings of germinoma are a mass of isodensity or of slightly increased density with significant, homogeneous enhancement after intravenous contrast injection. These findings are characteristic but not pathognomonic, and differential diagnosis from other solid tumors is not easy. cerebrospinal fluid cytology and response to irradiation aid in this differential diagnosis. The nine cases of germinoma reported showed rapid response to irradiation even at small doses (600 rad), and complete disappearance of the mass on CT at 1,600--3,300 rad. Other radiosensitive masses to be differentiated in the pineal region are pinealocytoma or pinealoblastoma. ( info) |
10/677. Ovarian dysgerminoma with massive metastases to para-aortic lymph nodes. We report on a 15-year-old female with left ovarian dysgerminoma accompanied by massive swelling of the para-aortic lymph nodes which was clearly demonstrated by preoperative magnetic resonance imaging (MRI). Metastasis to the para-aortic lymph nodes from dysgerminoma was confirmed by biopsies obtained during surgery. No study has previously reported dysgerminoma with massive para-aortic lymph node metastases clearly demonstrated by MRI. These preoperative MRI findings are presented here. The patient received six cycles of cisplatin-based combination chemotherapy with the BEP regimen (bleomycin, etoposide and cisplatin) after conservative surgery, and no residual para-aortic lymph nodes were detected by MRI or CT after the chemotherapy. ( info) |