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1/38. p53 and p16INK4A mutations during the progression of glomus tumor.

    Glomus tumors are significantly rare tumors of carotid body. The great majority of these tumors are benign in character. Here we present two brothers with hereditary glomus jugulare tumor who had consanguineous parents. radiotherapy was applied approximately 8 and 10 years ago for treatment in both cases. Eight years later, one of these cases came to our notice due to relapse. The mutation pattern of p53, p57KIP2, p16INK4A and p15NK4B genes which have roles in the cell cycle, was analyzed in tumor samples obtained from the two affected cases in the initial phase and from one of these cases at relapse. The dna sample obtained from the case in initial diagnosis phase revealed no p53, p57KIP2, p16INK4A or p15INK4B mutation. He is still in remission phase. Despite the lack of p53, p57KIP2, p16INK4A and p15INK4B mutation at initial diagnosis the tumor dna of the other case in relapse revealed p53 codon 243 (ATG-->ATC; met-->ile) and p16 codon 97 (GAC-->AAC; asp-->asn) missense point mutations. No loss of heterozygosity in p53 and p16INK4A was observed by microsatellite analysis of tumoral tissues in these cases. P53 and p16INK4A mutations observed in relapse phase were in conserved regions of both genes. No previous reports have been published with these mutations in glomus tumor during progression. The mutation observed in this case may due to radiotherapy. In spite of this possibility, the missense point mutations in conserved region of p53 and p16INK4A genes may indicate the role of p53 and p16INK4A in tumor progression of glomus tumors.
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2/38. 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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3/38. 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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4/38. Synchronous primary cancers of the breast and cervix: planning multidisciplinary primary treatment [clinico-pathological conference]

    Multiple metachronous primary malignancies are becoming increasingly frequent; however, multiple synchronous primary malignancies are still unusual. We report the case of a 61-year-old woman with synchronous stage IIIB ductal carcinoma of the left breast and FIGO stage IB2 squamous cell carcinoma of the cervix. The patient was treated initially every 4 weeks with a 24-h intravenous infusion of paclitaxel (175 mg/m2) followed by a 1-h infusion of carboplatin (area under the curve of 5 mg/ml x min) with concurrent irradiation of the pelvis. Significant toxic reactions including nausea, vomiting, and diarrhea required hospitalization or outpatient intravenous fluids and antiemetics. After four cycles of chemotherapy, the breast cancer was in complete clinical remission, and the patient underwent a modified radical mastectomy with axillary lymph node dissection. Pathologic findings revealed a few microscopic foci of residual infiltrating ductal carcinoma exhibiting a marked treatment effect; none of the 14 axillary lymph nodes removed showed evidence of metastatic tumor. A near-complete pathologic response of the breast cancer and a complete clinical response of the cervical cancer were obtained. Adjuvant chemotherapy for the breast cancer was then initiated, followed by radiation and hormonal therapy.
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5/38. Multiple tumors and a novel E2F-4 mutation. A case report.

    Defects in the dna mismatch-repair are known to cause microsatellite instability (MSI) in hereditary nonpolyposis colorectal cancer (HNPCC) as well as sporadic colorectal cancer (CRC). We previously reported that the E2F-4 gene, which encodes an important transcription factor in cell cycle control, had frequent tumor-specific mutations at the trinucleotide coding region microsatellite (CAG)n in a subset of human sporadic CRC with MSI. We report a 65-year-old man with triple tumors in the abdomen, including colon cancer, stomach cancer, and lipoma of the retroperitoneum, with the analysis of E2F-4 mutation. We report the first case of colon cancer with a homozygous E2F-4 mutation along with a detailed analysis of other cancer related genes as well as a prognosis.
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6/38. Synchronous gastric adenocarcinoma and MALT lymphoma in a patient with H. pylori infection. Could the two neoplasms share a common pathogenesis?

    Low-grade primary MALT (mucosa-associated lymphoid tissue) lymphoma of the stomach is a neoplasm with an indolent course and a good prognosis. patients with this type of neoplasm seem to have a higher risk for other neoplasms. Of interest is the association of gastric MALT lymphoma with gastric adenocarcinoma of intestinal type. We report the case of a patient, with a history of H. pylori-related gastritis, in whom a diagnosis of synchronous gastric adenocarcinoma of intestinal type and low-grade MALT lymphoma, occurring as collision tumors, was made. The stage procedures confirmed the presence of a locally advanced gastric tumor staged as T3 N1. The patient underwent two cycles of neoadjuvant EEP (etoposide, epirubicin, cisplatin) chemotherapy. After 2 months, a R0 total gastrectomy with D2-lymphoadenectomy was successfully performed. The development of simultaneous primary gastric lymphoma and carcinoma is a rare event. The possible coexistence of both tumors should be kept in mind, especially in patients infected with H. pylori, since a possible etiopathogenetic role of this bacterium has been differently postulated for both disease.
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7/38. Malignant bronchial Abrikossoff's tumor and small cell lung cancer: a case report and review.

    A 61-year-old male Caucasian smoker patient underwent chest radiography and CT scan for persistent non-inflammatory cough, which showed a left bronchial unresectable mass. bronchoscopy showed an endobronchial mass; washing cytology was negative and histology findings suggested diagnosis of granular cell tumor (GCT), also called Abrikossoff's tumor. After 3 weeks a new washing cytology test revealed the presence of small cell lung cancer (SCLC). A CT-scan and chest radiography showed a 30% increase in the maximum diameter of the lesion, clinically defining the primary neoplasm as malignant. The patient was referred to our institution and started chemotherapy with cisplatin and etoposide. After 6 cycles of treatment, the CT scan showed complete, disappearance of the neoplasm and bronchoscopy examination showed no endobronchial lesion, defining the mucosal surface as normal. We have reviewed and summarized the international literature with regard to bronchial localization of malignant granular cell tumor and its association with SCLC, therefore concluding that our case is the first malignant endobronchial GCT linked to SCLC.
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8/38. Synchronous endometrioid carcinoma of the ovary and endometrium associated with ovulation induction.

    Over the last 2 decades great concern about the possible association between ovarian cancer and ovulation induction has been raised. Between the first reported case in 1982 and the end of year 2000, there have been 44 cases of ovarian carcinoma reported to occur in women previously treated with ovulation induction drugs. Most of these tumors were of the serous type with low malignant potential. In the present case, the patient had secondary anovulatory infertility and previous left cystoophorectomy for ovarian endometrioma. She was treated with human menopausal gonadotrophin alone or in combination with clomiphene citrate for 13 cycles prior to presentation. Screening ultrasound revealed multicystic right ovarian mass (15 x 9 x 6 cm). hysterectomy and right salpingo-oophorectomy were carried out. Intraoperative and histological examinations showed stage 1A endometrioid ovarian cancer and well-differentiated endometrial adenoacanthoma with minimal myometrial invasion. A brief but critical review of published literature regarding the association of ovulation induction and increased risk of ovarian cancer is presented.
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9/38. Ruptured granulosa cell tumor of the left ovary and mature cystic teratoma of the right ovary: a case report of unusual acute abdominal syndrome.

    Although granulosa cell tumor combined with a dermoid cyst in the same ovary is rarely seen, adult granulosa cell tumor of the ovary with contralateral teratoma has not been reported to date. In this report we present the first case in the English language literature of a ruptured granulosa cell tumor of the left ovary and mature cystic teratoma of the right ovary presenting as acute abdominal syndrome. The patient underwent total abdominal hysterectomy, bilateral-ophorectomy, and multiple pelvic lymph node sampling and infracolic omentectomy. She received combined chemotherapy consisting of bleomycin, etoposide. and cisplatin for six cycles. Subsequent follow-up and workups have revealed no evidence of disease. At 19 months after initial diagnosis, she is disease-free.
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10/38. female patient with a history of Hashimoto's thyroiditis, diagnosed with MALT lymphoma of both breasts.

    BACKGROUND: Mucosa-associated lymphoid tissue (MALT) lymphomas are a distinct subgroup of non-Hodgkin's lymphomas with preferable localization in the gastrointestinal tract. patients AND methods We describe the unusual case of a 48-year-old female patient, who was diagnosed with simultaneous MALT lymphoma of both breasts. Cervical, axillary and retroperitoneal lymph nodes were slightly enlarged, indicating an infiltration by the lymphoma. In her medical history the patient suffered from Hashimoto's thyroiditis. After 6 cycles of chemotherapy with CHOP regimen, the patient achieved complete remission. CONCLUSION: To our knowledge, this is the first case describing a patient with MALT lymphoma of the breast and a history of Hashimoto's thyroiditis. As patients suffering from autoimmune disorders, especially sjogren's syndrome and Hashimoto's thyroiditis, are at a higher risk to develop B-cell lymphoma, we assume that Hashimoto's thyroiditis favored development of MALT lymphoma in our patient.
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