1/16. Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a li-fraumeni syndrome family.li-fraumeni syndrome is an autosomal dominant disorder that is characterized by various types of cancer in childhood and adult cases. Although hereditary TP53 mutation is very rare in different human cancers, it has been frequently reported in li-fraumeni syndrome. On the other hand, hereditary mutations of TP57KIP2, P15INK4B, and P16INK4A, which affect the cell cycle similar to TP53, were observed in some types of cancer. In a Turkish family with the diagnosis of li-fraumeni syndrome, we analyzed the mutation pattern of TP53, P57KIP2, P15INK4B, and P16INK4A in the peripheral blood, and loss of heterozygosity (homo/hemizygous deletion) pattern of TP53 and P15INK4B/P16INK4A in two tumor tissues. The propositus had a seminoma, his daughter a medulloblastoma, and one of his healthy cousins, a TP53 codon 292 missense point mutation (AAA-->ATA; Lys-->Ile) in the peripheral blood cells. Tumor tissue obtained from the propositus with the seminoma revealed loss of heterozygosity in the TP53 gene. In the analyses of tumor tissues from the propositus and his daughter, a P16INK4A codon 94 missense point mutation (GCG-->GAG; Ala-->Glu) was observed with the hereditary TP53 mutation. P16INK4A codon 94 mutation observed in our family is a novel mutation in li-fraumeni syndrome. No other gene alteration in TP53, P57KIP2, P15INK4B, and P16INK4A was observed. Existence of the P16INK4A mutation and the hereditary TP53 mutation with or without loss of heterozygosity in the TP53 gene (seminoma/medulloblastoma) may be evidence for a common mechanism involved in tumorogenesis. The gene alterations in TP53 and P16INK4A genes may be used as tumor markers in our family.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
2/16. Intracranial dural metastasis of mediastinal seminoma--case report.A 24-year-old male presented with a rare intracranial dural metastasis from a mediastinal germ cell tumor infiltrating the superior vena cava, pericardium, ascending aorta, and lung. Routine chest radiography incidentally revealed the abnormal mediastinum, which was partially resected after median sternotomy, followed by radiotherapy. One year after the radiotherapy, magnetic resonance imaging revealed a right parasagittal tumor mimicking a meningioma. Partial tumor removal was performed. Two cycles of chemotherapy with carboplatin and etoposide were then performed, and the residual tumor almost completely disappeared. The histological diagnosis of both the mediastinal and intracranial tumors was pure seminoma. Sections of metastatic tumor revealed several thick fibrous septa and numerous epithelioid granulomas infiltrated by plasma cells, intermingled between the clusters of tumor cells. Follow up of patients apparently in remission from mediastinal seminoma without evidence of advanced or recurrent disease at other sites is recommended.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
3/16. Noonan's syndrome and seminoma of undescended testicle.A 26-year-old white man with Noonan's syndrome and a history of lifetime lymphedema had had bilateral orchiopexy for undescended testicles at the age of 12. He noticed increased swelling of the right testicle confirmed by ultrasonography as a solid mass. Computed tomography of the abdomen and pelvis showed multiple enlarged mesenteric and retroperitoneal lymph nodes. At right inguinal orchiectomy, pathologic findings were consistent with seminoma of the right testicle. Postoperatively, he was treated with four cycles of cisplatin and etoposide. A case of nonseminoma in Noonan's syndrome has been reported previously, but this is first case report of seminoma in a patient with Noonan's syndrome.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
4/16. A PET study on the characterization of partially reversible radiogenic lower motor neurone disease.OBJECTIVE: To investigate the pathomechanism of the rare radiogenic lower motor neurone disease (LMND) on the basis of a case history involving a partial functional recovery. PATIENT: A 31-year-old seminoma patient received postoperative para-aortic and para-iliac telecobalt irradiation with a biologically effective dose of 88 Gy(2) (44 Gy in 2 Gy fractions/day, with an estimated alpha/beta of 2 Gy) delivered to the spinal cord following a single cycle of chemotherapy. LMND developed 4 months after the completion of radiotherapy. The patient exhibited flaccid paraparesis of the lower extremities (without sensory or vegetative signs), followed by a worsening after further chemotherapy, due to pulmonary metastatization. A gradual spontaneous functional improvement commenced and led several years later to a stabilized state involving moderately severe symptoms. methods: In the 15th year of the clinical course, magnetic resonance imaging (MRI) and positron emission tomography (PET) with [(18)F]fluorodeoxyglucose (FDG) and [(11)C] methionine were conducted. Four lines of experiments (clonogenic assay using fibroblasts isolated from a skin biopsy sample of the patient, comet assay, micronucleus assay, and the testing of chromosome aberrations after in vitro irradiation of peripheral blood samples) were performed in a search for an increased individual radiosensitivity. RESULTS: MRI investigations failed to reveal any pathological change. PET demonstrated an increased FDG accumulation, but a negligible [(11)C] methionine uptake in the irradiated spinal cord segments. The radiobiological investigations did not indicate any sign of an increased individual radiosensitivity. CONCLUSIONS: We suggest that the observed partial functional recovery and stabilization of the symptoms of radiogenic LMND may be explained by the higher than normal density of sodium channels expressed along the demyelinated axons of the restored conduction. The increased energy demands of this type of conduction are proved by a higher metabolic rate (increased FDG uptake) of the irradiated spinal cord segments without a substantial regenerative process (lack of detectable protein synthesis).- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
5/16. seminoma metastases mimicking primary pancreatic cancer.BACKGROUND: A case of seminoma clinical stage III, arising from the right testis and mimicking a primary pancreatic malignancy is reported. CASE REPORT: A 57-year-old male patient presented with obstructive jaundice. He suffered from recurrent abdominal pain and significant weight loss over the past 4 months. Abdominal CT scan showed a tumor in the head of the pancreas and multiple pathologically enlarged peripancreatic lymph nodes. In the laboratory findings there were signs of cholestasis and infection. A laparoscopic biopsy out of a suspicious lesion of the head of the pancreas and a surrounding lymph node was done. Histopathological examination reported metastasis of seminoma in a lymph node. Further laboratory findings showed an elevation of the human placental alkaline phosphatase (HPLAP) and urological examination revealed a suspect right testis. The patient underwent castration of the right testis and histopathological examination confirmed a seminoma. 4 cycles of chemotherapy including cisplatinum, etoposide and bleomycin led into complete response that is still ongoing. CONCLUSION: This case shows a seminoma with metastases at retroperitoneal site, mimicking a primary pancreatic neoplasm. It provides an example of the possibility of an uncommon clinical appearance of seminoma metastases and again underlines the importance of exact radiological and histopathological examination to distinguish between curable and incurable tumor.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
6/16. Mediastinal seminoma in a patient with wiskott-aldrich syndrome.Shortness of breath developed in an 18-year-old man with wiskott-aldrich syndrome, and he was found to have a large mediastinal mass. The gallium scan was positive, and biopsy indicated a seminoma. After treatment with four cycles of chemotherapy, the mass completely resolved. Despite severe thrombocytopenia, he required only two platelet transfusions during therapy. Although lymphomas make up the vast majority of mediastinal tumors in patients with wiskott-aldrich syndrome, a positive gallium scan should not preclude the diagnosis of seminoma or the need for confirmatory tissue diagnosis. This report shows the possibility of uneventful and successful treatment of malignancy in a patient with wiskott-aldrich syndrome and severe thrombocytopenia.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
7/16. Late relapse of stage I testicular seminoma metastatic to just a para-ureteropelvic region.A follow-up ultrasonography study 43 months after an operation for left stage I testicular seminoma in a 39-year-old man revealed left hydronephrosis. serum beta-human chorionic gonadotropin (beta-hCG) levels were slightly increased. Computed tomography scans of the abdomen showed a bulky tumor around the ureteropelvic region without para-aortic lymph node enlargement, but did not show a clear distinction between a recurrence of the testicular tumor and an invasive ureteral tumor. After the patient underwent two cycles of chemotherapy with cisplatin and etoposide, the tumor mass decreased by approximately 60% and beta-hCG levels returned to normal. We then performed a resection of the residual tumor involving the upper ureter and left kidney and a retroperitoneal lymph node dissection under a clinical diagnosis of recurrence of the testicular tumor. Histologically, no viable cancer cells remained. The patient has been well with no evidence of recurrence for more than two years.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
8/16. Mediastinal germ cell tumor associated with histiocytic sarcoma of spleen: case report of an unusual association.We present an unusual association of mediastinal germ cell tumor containing seminoma and angiosarcoma components and splenic histiocytic sarcoma. A 15-year-old boy presented with chest pain. Histopathologically, an anterior mediastinal mass contained typical seminoma, immature teratoma, embryonal carcinoma, angiosarcoma, yolk sac tumor, and polyembryoma. An abdominal ultrasonogram revealed a huge splenomegaly with multiple ill-defined low echogenic nodules, 1 month after the second cycle of chemotherapy. Histopathologically, large, round-to-oval tumor cells with abundant eosinophilic cytoplasm often contained eccentrically placed nuclei with vesicular chromatin and an irregular nuclear membrane. The tumor cells were immunoreactive for CD68, CD31, and CD4. The cytogenetic results showed deletion of the long arm of chromosome 5 and trisomy 8. This lesion might have been on the pathway of multistep tumorigenesis toward a final leukemia.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
9/16. Childhood primary mesenteric seminoma.We report an 11-year-old child who presented with an abdominal lump and was diagnosed as having an extragonal primary mesenteric seminoma. Patient was treated with 4 cycles of combination chemotherapy cisplatin, etoposide and bleomycin; he is now disease free for 2 years. We discuss and review extragonadal germ cell tumors arising from the mesentery and their management.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
10/16. Primary mediastinal seminoma.We describe three cases of primary mediastinal seminoma, a rare neoplasm histologically similar to the testicular form, which mainly affects men between 30-60 yrs of age. Case No. 1--a 45 year old patient was treated with a combination of radiotherapy and chemotherapy. Twenty six months after the diagnosis, the patient shows a limited residual lesion, a good general health status and was asymptomatic. Case No. 2--a 56 year old patient was admitted for suspected epithelial lung cancer, with subsequent histological diagnosis of seminoma on surgical sample. The exeresis of the lesion was followed by radiotherapy and chemotherapy, the latter interrupted owing to the onset of thrombotic complications resulting in the patient's death. Case No. 3--a 35 year old patient was subjected to diagnostic and therapeutic thoracotomy, with diagnosis of primary mediastinal seminoma. The surgical therapy was followed by a cycle of radiotherapy. Five years later, the general health of the patient is good and he is still asymptomatic. In the discussion we consider the embryogenesis, clinical picture, radiological and anatomicopathological aspects, typical biomarkers of cancer, diagnostic procedures and therapeutic protocols currently followed.- - - - - - - - - - ranking = 1keywords = cycle (Clic here for more details about this article) |
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