1/5219. Bilateral wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. Mutations in the WT1 gene causing Wilms tumors were first reported in wagr syndrome (wilms tumor, aniridia, Genitourinary malformation, mental Retardation) and Denys Drash syndrome (pseudohermaphroditism, wilms tumor, nephropathy), but only in a few patients with hypospadias and cryptorchidism without other signs of Denys Drash (DDS) or wagr syndrome WT1 mutations were identified. We report a boy, who was born in 1989 with hypospadias and bilateral cryptorchidism. Previous karyotyping and endocrine studies had ruled out any known cause of male pseudohermaphroditism. Subsequently, he developed a bilateral wilms tumor, which was detected by palpation at the age of 15 months during a routine visit by the general pediatrician. Because of its extensive size, surgery and chemotherapy were needed for treatment. Analysis of the WT1 gene was performed 5 y after diagnosis and revealed a C to T transition in one allele generating a stop codon at codon 362 and subsequently leading to a truncated protein with loss of its ability to bind to dna. No signs of DDS or wagr syndrome are present in the boy. The work up of this patient and the so far known few comparable cases from the literature lead to the conclusion that in newborns with severe urogenital malformations not due to known chromosomal or endocrine disorders mutational screening of the WT1 gene should be performed, to evaluate the high risk of developing a wilms tumor. We favor mutational screening in these patients as an easy tool for investigation, because in the future it will probably decrease the necessity of frequent control visits in patients without a WT1 mutation. ( info) |
2/5219. Multitechnical pathological diagnosis in chromophobe renal cell carcinoma. Two new cases of chromophobe renal cell carcinoma were diagnosed on the basis of their morphology and their karyotype complemented by flow cytometry. In one of these cases, however, all these investigations were not sufficient and additional histochemistry investigation had to be used to completely rule out other renal tumors such as oncocytoma, the prognosis of which is totally different. ( info) |
3/5219. Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classification. We report phakomatosis pigmentovascularis detected in a Caucasian child characterized by the presence of a nevus flammeus and nevus anemicus on the face, a telangiectatic linear nevus of the right leg, and a very extensive blue spot covering 60% of the body surface, with ocular melanosis. Multiple angiomatous lesions of the kidney are associated without alterations of the central nervous system (CNS). This association has not been reported before; it could be a further expression of the complex of developmental defects. Our case corresponds exactly to type IIb in the classification of phakomatosis pigmentovascularis proposed by Hasegawa. As this classification seems very extensive, the higher incidence of cases corresponding to the second subtype suggests that we should identify it by the term phakomatosis pigmentovascularis, while the others could be considered as only very uncommon variants. ( info) |
4/5219. Successful treatment of a patient with stage IV rhabdoid tumor of the kidney: case report and review. The clinical course of a 31-month-old patient with advanced (stage IV) rhabdoid tumor of the kidney (RTK) and an analysis of treatment variables that may impact survival are presented. Treatment included complete resection of abdominal disease, radiation therapy to the abdomen and chest, and chemotherapy on a schedule of dose intensification by reduction of the interval between cycles. Inclusion of doxorubicin in treatment was associated with survival among patients in published series (P = 0.002). The patient was in continuous complete remission 60 months from diagnosis. Stage IV rhabdoid tumor of the kidney can be effectively treated with intensive multimodal therapy. doxorubicin may be an important component of a successful therapeutic regimen. ( info) |
5/5219. Prolonged survival of a patient with sickle cell trait and metastatic renal medullary carcinoma. PURPOSE: The treatment and outcome of a patient with sickle cell trait and metastatic renal medullary carcinoma is described. PATIENT AND methods: A 12-year-old boy with sickle cell trait had metastatic renal medullary carcinoma. After surgical resection of the primary tumor, he received chemotherapy with methotrexate, vinblastine, doxorubicin, and cisplatin. The carcinoma progressed after a 6-month period of stable disease. At that time, he received chemotherapy including ifosfamide, etoposide, carboplatin, and topotecan. RESULTS: The patient died of progressive disease 15 months from diagnosis. The patient's tumor in this report showed no progression while he was receiving methotrexate, vinblastine, doxorubicin, and cisplatin, but eventually became refractory to these and other cytotoxic agents. CONCLUSION: Renal medullary carcinoma is a highly chemotherapy-resistant tumor. Average survival after diagnosis is 15 weeks; the longest survival reported in the literature is 12 months from diagnosis. The patient in this report survived longer than the previously described patients before dying from progressive disease. ( info) |
| Four cases of renal angiomyolipoma are presented, 3 of which were diagnosed in non-tuberous sclerosis patients. In 1 case diagnosis was made preoperatively and in another case it was made intraoperatively, allowing for preservation of functioning renal parenchyma. The second successful kidney transplant in a patient with tuberous sclerosis and renal failure is reported. One cannot always differentiate renal angiomyolipomas from adenocarcinoma. However, if the classical angiographic findings of sacculated pseduo-aneurysms supplied by the interlobular and interlobar arteries are present non-operative observation or limited surgery with preservation of renal tissue is possible. Also, knowledge of the gross pathologic appearance and the syndrome of tuberous sclerosis will allow one to make a preoperative or intraoperative diagnosis with confidence. ( info) |
7/5219. Benign renal angiomyolipoma with regional lymph node involvement. The 2 cases reported herein involve benign renal angiomyolipomas, showing the same angiomyolipoma changes in the regional lymph nodes. It is concluded that these lymph node changes are caused by a multicentric origin of the angiomyolipoma rather than true metastasis. A plea is made not to over treat these tumors since all evidence points to the fact that they are indeed benign. ( info) |
8/5219. Linear straited vascular pattern: its implication on a renal angiogram clinical importance and pathologic verification. A case of hypernephroma with neoplastic extension to the renal vein showing a characteristic linear striated vascular pattern on a renal angiogram is presented. A nephrectomy specimen was examined pathologically and angiographic correlation subsequently was inferred. Implication of this unusual pattern on the renal angiogram is emphasized through our experience and review of relevant literature in order to predict the prognosis and to prepare for radical treatment. ( info) |
9/5219. Spontaneous remission of solitary bony metastasis after removal of the primary kidney adenocarcinoma. The second case of spontaneous remission of a biopsy-proved osseous metastasis from a renal carcinoma is reported. The unusual feature of the patient presenting with a right varicocele and no hematuria is extremely rare. ( info) |
10/5219. Dendritic cell-based immunotherapy of renal cell carcinoma. dendritic cells potently stimulate antigen-specific immune responses and recent data indicate that they are also capable of eliciting antitumor immune responses. We are performing a pilot study which tests the safety and efficacy of antigen-loaded, cultured blood dendritic cells in patients with metastatic renal cell carcinoma. dendritic cells are simultaneously pulsed with lysate from autologous tumor cells and with the immunogenic protein keyhole limpet hemocyanin. During the pulse, the cells are activated with a combination of tumor necrosis factor-alpha and prostaglandin E2. patients receive 5-10 X 10(6) dendritic cells per intravenous infusion and up to six infusions at monthly intervals. The first results demonstrate that this treatment modality is very well tolerated and can be associated with strong immunological and clinical responses. The present article discusses the importance of dendritic cell maturation and the role of helper antigens in dendritic cell-based immunotherapy. ( info) |