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1/185. Late recurrence with malignant degeneration of testicular teratoma. Case report.

    Radical orchiectomy was performed on a 25-year-old man for benign mature teratoma. A synchronous without change 3 cm retroperitoneal mass was followed for five years. The mass enlarged and became symptomatic twelve years after orchiectomy. Excision of the mass revealed a non-seminomatous germ cell tumor. Possible explanation is malignant degeneration of the teratomatous elements. Testicular teratomas should be treated as potentially malignant non-seminomatous tumor.
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2/185. A case of multiple sebaceous epithelioma: analysis of microsatellite instability.

    Sebaceous gland tumor is a rare disease that is a sign of muir-torre syndrome, an autosomal, dominantly inherited genodermatosis characterized by the presence of at least one sebaceous gland tumor and a minimum of one internal malignancy. Recent studies have indicated that defective dna mismatch repair occurs in muir-torre syndrome. Cutaneous lesions may occur before diagnosis of the internal cancer. We describe a 64-year-old male patient with multiple sebaceous epitheliomas with no evident internal malignancy. microsatellite instability, determined by examining dinucleotide CA repeats at the microsatellite loci, was observed in DNA from one sebaceous epithelioma but not from the other two sebaceous epitheliomas or from one basal cell epithelioma with sebaceous differentiation, suggesting that this condition is unlikely to be due to germ-line mutation of mismatch repair genes.
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3/185. The role of chemotherapy in intracranial germinoma: a case report.

    BACKGROUND: The case of a 29-year-old man with histologically proven simultaneous germinoma (seminoma) of the pineal gland and a stage I embryonal carcinoma of the testis is reported. An intradural metastatic lesion from the pineal germinoma was diagnosed at the level of the first thoracic vertebra. Treatment, after inguinal orchiectomy, was chemotherapy only, rather than conventional radiotherapy for the pineal germinoma. methods: Therapy consisted of bleomycin (B), etoposide (E) and cisplatin (P). MRI was used to assess the effectiveness of BEP chemotherapy. RESULTS: A complete remission of the pineal gland germinoma and the epidural metastasis was documented after two cycles of BEP chemotherapy and after 15 months of follow-up the patient remains free of relapse. DISCUSSION: The pathogenesis of simultaneously occurring germinoma of the pineal gland and embryonal cell carcinoma of the testis is discussed. The choice of therapy in these circumstances is a matter of debate and the good result of chemotherapy alone in this patient suggest that primary chemotherapy may be the therapy of choice in patients with pineal germinomas.
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4/185. Coexistent gastric MALT lymphoma and Kaposi sarcoma in an hiv positive patient.

    A 47 year old hiv positive male presented with haematemesis and epigastric pain. A gastrectomy was performed for intractable bleeding. The cause of the haematemesis proved to be a Kaposi sarcoma of the stomach which had resulted in mucosal ulceration. Several other smaller foci of Kaposi sarcoma were also present. Coexistent with the Kaposi sarcoma was a dense lymphoid infiltrate with lymphoid follicles and reactive germinal centres. Centrocyte-like cells caused marked effacement and destruction of gastric glands with the formation of lymphoepithelial lesions, typical of a MALT lymphoma. These cells were of B cell lineage and some expressed the hiv antigen, p24. Follicular dendritic cells and macrophages within germinal centres were also p24 positive. immunohistochemistry and in situ hybridisation did not detect Epstein-Barr virus. Although helicobacter pylori was not identified by light microscopy in the sections sampled, this does not preclude its possible role, with other cofactors such as hiv, in the causation of the MALT lymphoma.
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5/185. Acute promyelocytic leukaemia complicating multiple myeloma: evidence of different cell lineages.

    The association of leukemia and multiple myeloma is well described usually as a complication of chemotherapy but also in the absence of chemotherapy or at diagnosis. Such leukemias are typically acute myeloid leukemia (AML), particularly myelomonocytic subtype, and cases of acute promyelocytic leuke (APL) are rarely reported. Controversy exists as to whether myeloma and AML originate from a single haematopoietic progenitor or arise from different cell lineages. We report a case of a 58 year old female who developed APL 10 months following diagnosis of nonsecretory light chain (kappa) myeloma which had been treated with local spinal irradiation and low dose oral melphalan and prednisone. Clonality had originally been demonstrated by light chain restriction (kappa) of her bone marrow plasma cells whilst immunoglobulin heavy chain and T cell receptor genes were germ line. At development of APL cytogenetics revealed t(15;17) and PML-RAR fusion gene was detected by RT-PCR. The patient was treated with all-trans retinoic acid (ATRA) and received 2 cycles of consolidation chemotherapy with idarubicin. Following this therapy the t(15;17) and PML-RAR were both undetectable whilst the clonal population of kappa staining plasma cells persisted. This particular patient represents a rare case of APL complicating multiple myeloma with persistence of the myeloma clone but disappearance of PML-RAR alpha rna following therapy. This case study appears to support the argument that the APL and myeloma originated from distinct cell lineages.
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6/185. Somatic mosaicism in von hippel-lindau disease.

    von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von hippel-lindau disease. mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.
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7/185. chromogranin a expression in hepatocellular carcinoma in a patient with germline MEN1 gene mutation.

    Hepatocellular carcinoma (HCC) was found in a patient with multiple endocrine neoplasia type 1 (MEN 1). The intriguing finding was that the HCC in the patient was positively stained for chromogranin a (CgA), a cellular marker for endocrine and neuroendocrine tumors. The patient had a pancreas endocrine tumor and type C hepatitis, that made pathological diagnosis of the origin of the tumor complicated.
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8/185. choriocarcinoma arising in a squamous cell carcinoma of the esophagus.

    Extragonadal germ cell tumors are rare neoplasms with histologic features comparable to those of gonadal origin. Squamous cell carcinoma of the esophagus was diagnosed in a 53-year-old male patient, and was palliated for a short period by cisplatin plus 5-fluorouracil. Clinical deterioration and development of gynecomastia led to diagnosis of hormone-secreting choriocarcinoma that originated within the squamous cell tumor of the esophagus. Salvage chemotherapy affected the markers but not the tumor. Extragonadal choriocarcinoma is a chemosensitive tumor, but when arising within squamous cell carcinoma of the esophagus it may be chemoresistant, and lead to a fatal outcome.
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9/185. Synchronous wilms tumor and fibrolamellar hepatocellular carcinoma: report of a case.

    Fibrolamellar hepatocellular carcinoma (FHCC) is a unique histologic variant of HCC that occurs in a younger subset of patients than classical HCC, and is associated with a better prognosis. wilms tumor (WT) is a malignant embryonal neoplasm of the kidney and is one of the most common solid tumors of childhood, occurring at an estimated frequency of 1 in 8000 to 10,000 births. Although second malignant neoplasms (SMNs) following therapy for WTs have been reported in the liver, the coexistence of HCC and WT is extremely rare. We present the first report of a synchronous anaplastic WT and FHCC in a previously healthy 4-year-old girl. Despite the presence of focal immunohistochemical positivity for p53 in the WT, molecular analysis failed to reveal a germline or somatic p53 mutation, and was inconclusive in establishing a clonal relation between the two tumors.
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10/185. A newly recognized germline mutation of MEN1 gene identified in a patient with parathyroid adenoma and carcinoma.

    We report on a patient with primary hyperparathyroidism, owing to the concurrence of parathyroid adenoma with carcinoma, who had a newly recognized germline mutation of the multiple endocrine neoplasia type 1 gene (MEN1 gene). The patient underwent total parathyroidectomy, and histological examination revealed parathyroid carcinoma and multiple adenoma of the other three glands. Genetic analysis revealed a newly recognized heterozygous germline mutation (842delC, exon 4) of the MEN1 gene. Both imaging studies and laboratory data showed no evidence of MEN1 in the patient. Four family members--three sisters and one daughter--had neither clinical features of MEN1 nor genetic evidence of the MEN1 gene. This is the first report of a germline mutation of the MEN1 gene found in a patient who exhibited the concurrence of parathyroid adenoma with carcinoma, suggesting that long-term hyperactivity of the parathyroids may result in the formation of carcinoma.
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ranking = 7
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