1/88. 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.- - - - - - - - - - ranking = 1keywords = rhabdoid (Clic here for more details about this article) |
2/88. Detection of the ETV6-NTRK3 chimeric rna of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: application to challenging pediatric renal stromal tumors.We report the development of a reverse transcriptase polymerase chain reaction assay that reliably detects the ETV6-NTRK3 chimeric rna characteristic of infantile fibrosarcoma and the cellular variant of congenital mesoblastic nephroma (CMN) in formalin-fixed, paraffin-embedded tissue blocks. The 188 base pair polymerase chain reaction fusion product was detected in 11 of 12 cases of cellular CMN from which a larger sized control rna band could be amplified, and even in 7 of 8 cases in which the control band was not detectable. A variety of other tumors that are in the histologic differential diagnosis of cellular CMN yielded negative results, including four classic CMNs, four rhabdoid tumors of the kidney, and four clear cell sarcomas of the kidney, confirming the assay's specificity. We further demonstrate the assay's utility by illustrating two cases of molecularly confirmed cellular CMN that mimicked rhabdoid tumor and clear cell sarcoma of the kidney. In contrast to previous reports, five mixed CMNs that had both classic and cellular areas all lacked the ETV6-NTRK3 fusion transcript. These results suggest that cases morphologically defined as mixed CMN may represent a mixed group of genetically distinct entities.- - - - - - - - - - ranking = 0.33333333333333keywords = rhabdoid (Clic here for more details about this article) |
3/88. adenocarcinoma of the renal pelvis with vimentin-positive intracytoplasmic inclusions.A case of mucus-producing papillary adenocarcinoma of the renal pelvis associated with multiple renal calculi in a 16-year-old male is reported. The majority of the tumor cells contained large, round or cone-shaped, vimentin-positive intracytoplasmic inclusions, which exhibited some morphological and immunohistochemical resemblance to inclusions found in malignant rhabdoid tumor of the kidney. An intracytoplasmic accumulation of mucus was also noted in some tumor cells. The patient is free from recurrence and metastasis after a nephrectomy.- - - - - - - - - - ranking = 0.16666666666667keywords = rhabdoid (Clic here for more details about this article) |
4/88. Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor.We describe a four-month-old child who presented with an atypical teratoid/rhabdoid tumor of the brain and subsequently developed a renal rhabdoid tumor. Distinct histologic features, immunophenotypic profiles, and deletions of chromosome 22 were supportive of two primary tumors. An identical mutation in exon 7 of the INI1 rhabdoid tumor suppressor gene was identified in both tumors, as well as in normal kidney tissue. We propose that this germline INI1 mutation predisposed the child to the development of both malignancies. These findings lend support to the hypothesis that rhabdoid tumors in all sites have a common genetic etiology.- - - - - - - - - - ranking = 1.3333333333333keywords = rhabdoid (Clic here for more details about this article) |
5/88. A malignant rhabdoid tumor of the kidney occurring concurrently with a brain tumor: report of a case.Malignant rhabdoid tumor of the kidney (MRTK) is one of the most lethal neoplasms to occur in young infants. Cases of MRTK accompanying an embryonal tumor in the central nervous system have occasionally been described. We present herein an interesting case of MRTK that was clinically diagnosed preoperatively. A male infant aged 6 months with both a midline brain tumor and a renal neoplasm was transferred to our institution. Although roentgenographic evaluation suggested that the renal lesion was a Wilms' tumor, midkine (MK), a growth and differentiation factor characteristically present in the urine of patients with Wilms' tumor, was not detected. A preoperative diagnosis of MRTK was established based on the lack of urinary MK in addition to the typical clinical features of the young age and the concurrent brain tumor.- - - - - - - - - - ranking = 0.83333333333333keywords = rhabdoid (Clic here for more details about this article) |
6/88. Long-term survival in an adolescent with widely metastatic renal cell carcinoma with rhabdoid features.Renal cell carcinoma is rarely seen in children and adolescents. patients with widespread disease at diagnosis have a particularly poor survival rate. Currently, all known chemotherapy has been ineffective in improving the median survival in patients with advanced disease. A 13-year-old black boy with stage IV renal cell carcinoma with rhabdoid features is a long-term disease-free survivor after aggressive multiagent chemotherapy. After the initial evaluation and histologic diagnosis of renal cell carcinoma, the patient received three courses of an aggressive chemotherapy regimen consisting of vincristine, doxorubicin, cyclophosphamide with mesna uroprotection, granulocyte colony-stimulating factor and erythropoietin (Epogen). After an almost complete response, a radical nephrectomy was performed and results demonstrated a solitary small nodule with viable tumor. After surgery, he received floxuridine infusion for 14 days by circadian schedule at 28-day intervals for a total of 1 year. The patient is well and free of disease 5 years after initial presentation. The dramatic response to treatment and long-term disease-free survival of this patient suggest this chemotherapeutic approach warrants additional investigation.- - - - - - - - - - ranking = 0.83333333333333keywords = rhabdoid (Clic here for more details about this article) |
7/88. Mutations of the p53 gene in malignant rhabdoid tumors of soft tissue and the kidney: immunohistochemical and dna direct sequencing analysis.Malignant rhabdoid tumor (MRT) is characterized by the presence of intracytoplasmic eosinophilic inclusions composed of whorls of intermediate filaments. This tumor was originally described as an entity of the abortive type of Wilms' tumor in childhood. Recently, it has been proved that these rhabdoid cells can be observed in various types of malignant tumors, including soft tissue sarcoma or carcinoma. To investigate the oncogenesis of this tumor, we examined the p53 gene alteration by means of immunohistochemical analysis and dna direct sequencing in three cases of malignant rhabdoid tumor (MRT) of the soft tissue and three cases of MRT of the kidney. All the cases of MRT of the soft tissue and two of the cases of MRT of the kidney showed immunopositivity for p53 protein. Among them, one of the cases of MRT of the soft tissue and two of the cases of MRT of the kidney showed missense mutations of the p53 gene. These results strongly suggest that p53 gene alterations may have an important role to play in the aggressive biological behavior and poor prognosis of this tumor.- - - - - - - - - - ranking = 1.1666666666667keywords = rhabdoid (Clic here for more details about this article) |
8/88. Ductal cell carcinoma of the kidney with extensive signet ring cell mucosecreting areas. A case report with immunohistochemical analysis.We present the case of a 45-year-old patient with a renal ductal cell carcinoma arising in the Bellini ducts that was composed of histologically well-differentiated tubulopapillary and cystic areas with desmoplastic stroma, extensive mucosecreting areas, and regions depicting a transition between these two constituents. The mucosecreting component was mostly formed by signet ring tumor cells containing cytoplasmic alcian blue-PAS-stainable mucins. The tubulopapillary and cystic areas of the tumor showed the immunohistochemical staining for low and high molecular weight cytokeratin, EMA, vimentin and ulex europaeus, characteristic of ductal cell carcinoma. The mucosecreting cells also presented intense positive staining for cytokeratin and vimentin, and this is quite similar to observations reported in some forms of gastrointestinal cancer with rhabdoid features that are indicative of poor prognosis. Our findings suggest that mucosecreting areas with signet ring cells represent an extreme metaplastic change that can seldom occur in certain forms of renal tumors.- - - - - - - - - - ranking = 0.16666666666667keywords = rhabdoid (Clic here for more details about this article) |
9/88. Congenital mesoblastic nephroma associated with polyhydramnios and hypercalcemia.Congenital mesoblastic nephroma (CMN) can present with atypical clinical and imaging findings. A premature male neonate was born to an 18-year-old woman after 33 weeks' gestation, which was complicated by polyhydramnios and placenta abruptio. A right abdominal mass was diagnosed antenatally. From the 1st day of life, the newborn had hypercalcemia with initially normal parathormone levels and polyuria for the first hours of life and normal urine output afterwards. Ultrasonographic study and magnetic resonance imaging of the abdomen showed at the upper pole of the right kidney a heterogeneous, solid, poorly defined mass, partially surrounded by a subcapsular fluid collection mimicking malignant rhabdoid tumor of the kidney. Surgical resection revealed a CMN of mixed, classic, and in areas, cellular type. One year after the resection, the patient is asymptomatic and normocalcemic. In conclusion, CMN may present with atypical clinical and imaging findings, necessitating an extensive work-up in order to exclude highly malignant renal tumors of the neonatal period.- - - - - - - - - - ranking = 0.16666666666667keywords = rhabdoid (Clic here for more details about this article) |
10/88. rhabdoid tumor of the kidney is a component of the rhabdoid predisposition syndrome.The rhabdoid predisposition syndrome (RPS) is characterized by pedigrees in which two or more individuals carry germline mutations of the hSNF5/INI1 tumor suppressor gene. The tumors associated with the syndrome include atypical teratoid/rhabdoid tumor (AT/RT), choroid plexus carcinoma, medulloblastoma, and extrarenal rhabdoid tumor. rhabdoid tumor of the kidney (RTK) has not been described as part of the RPS. We report a case of a 7-month-old boy with RTK whose sister had a malignant cerebellar tumor followed by a malignant lung and pleural tumor of childhood with typical rhabdoid histology. Molecular genetic analysis of the RTK and tissue from the pleural tumor revealed in both cases identical nonsense mutations of the hSNF5/INI1 gene on chromosome 22q11.2, where thymidine was substituted for cytosine in base 472. The proband had an identical germline mutation. This is the fifth genetically analyzed RPS pedigree and the first to include an RTK.- - - - - - - - - - ranking = 1.3333333333333keywords = rhabdoid (Clic here for more details about this article) |
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