Rhabdoid Tumor Of Kidney Research Articles

ATRT-03. Adapted Treatment Protocol: Synchronous Atypical Teratoid/Rhabdoid CNS Tumor and Extra CNS Disease

Abstract Atypical teratoid/rhabdoid tumors (AT/RTs) of the central nervous system (CNS) are rare, aggressive, early childhood tumors with unfavorable prognosis. There have been 31 cases reported of children with AT/RT of the CNS and extra CNS primary tumors. In addition to its aggressive tendencies, malignant rhabdoid tumors (MRTs) of the kidney have also shown a common genetic abnormality-inactivating mutation of SMARC B1/INI-gene. We report a 22-month-old male who presented at 15 months of age with metastatic AT/RT of the posterior fossa and synchronous malignant rhabdoid tumor of the left kidney. MRI of the brain demonstrated a midline posterior fossa mass and left renal mass was noted incidentally on imaging of spine. Pathology was consistent with MRT of the kidney and pathogenic variant was found in the tumor sample, specifically SMARCB1 homozygous/biallelic deletion. Patient underwent a subtotal resection of the posterior fossa tumor and subsequent radical resection of the mass on kidney rhabdoid tumor. He was treated as per ACNS033 protocol with 2 cycles of induction with high-dose methotrexate followed by vincristine, cyclophosphamide, cisplatin, and etoposide with complete response followed by three tandem stem cell transplants with thiotepa and carboplatin for which he has been tolerating and responding favorably. Focal radiation therapy to the brain and flank area is planned at end of therapy. In a large series of synchronous AT/RTs reported in 2017 only 3 of the 31 patients were considered long-term survivors. All received a combination of high dose intrathecal or intravenous chemotherapy, total resection of at least one of the tumors, focal radiation, and autologous peripheral blood stem cell transplant. We demonstrated a case with a favorable response with our treatment. Treatment continues to be challenging given the tumor’s rarity and mortality as there are no standardized protocols or randomized controlled trials.

Current and Emerging Therapeutic Approaches for Extracranial Malignant Rhabdoid Tumors.

Extracranial malignant rhabdoid tumors (extracranial MRT) are rare, highly aggressive malignancies affecting mainly infants and children younger than 3 years. Common anatomic sites comprise the kidneys (RTK – rhabdoid tumor of kidney) and other soft tissues (eMRT – extracranial, extrarenal malignant rhabdoid tumor). The genetic origin of these diseases is linked to biallelic pathogenic variants in the genes SMARCB1, or rarely SMARCA4, encoding subunits of the SWI/SNF chromatin-remodeling complex. Even if extracranial MRT seem to be quite homogeneous, recent epigenome analyses reveal a certain degree of epigenetic heterogeneity. Use of intensified therapies has modestly improved survival for extracranial MRT. Patients at standard risk profit from conventional therapies; most high-risk patients still experience a dismal course and often therapy resistance. Discoveries of clinical and molecular hallmarks and the exploration of experimental therapeutic approaches open exciting perspectives for clinical and molecularly stratified experimental treatment approaches. To ultimately improve the outcome of patients with extracranial MRTs, they need to be characterized and stratified clinically and molecularly. High-risk patients need novel therapeutic approaches including selective experimental agents in phase I/II clinical trials.

MP55-10 PEDIATRIC SMALL RENAL MASSES: CAN TUMOR SIZE PREDICT HISTOLOGY AND THE POTENTIAL FOR NEPHRON-SPARING SURGERY?

You have accessJournal of UrologyPediatric Urology V (MP55)1 Sep 2021MP55-10 PEDIATRIC SMALL RENAL MASSES: CAN TUMOR SIZE PREDICT HISTOLOGY AND THE POTENTIAL FOR NEPHRON-SPARING SURGERY? Daniel Han, Peter Boxley, Andrew Nicklawsky, Nina Mikkilineni, Sarah Hecht, Amanda Saltzman, Nicholas Cost, and Jonathan Walker Daniel HanDaniel Han More articles by this author , Peter BoxleyPeter Boxley More articles by this author , Andrew NicklawskyAndrew Nicklawsky More articles by this author , Nina MikkilineniNina Mikkilineni More articles by this author , Sarah HechtSarah Hecht More articles by this author , Amanda SaltzmanAmanda Saltzman More articles by this author , Nicholas CostNicholas Cost More articles by this author , and Jonathan WalkerJonathan Walker More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002085.10AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: The majority of children with non-syndromic, unilateral renal masses suspicious for malignancy undergo radical nephrectomy (RN). Nephron-sparing surgery (NSS) is reserved for patients with bilateral Wilms tumor (WT), predisposition syndromes, solitary kidney, or select non-WT histologies. While mostly curative, RN can have significant long-term health consequences. Prior review of SEER data showed that pediatric small renal masses (SRM) are less likely to be WT. In this study, we investigate our institutional data to determine how tumor size (TS) impacted the probability of finding WT on final pathology. We hypothesize that SRM are more likely to have benign or non-WT histology, and thus are potentially appropriate for NSS. METHODS: A retrospective review was performed of patients who underwent RN or NSS for a unilateral renal mass at a single institution from 2005-2019. Patients who received neoadjuvant chemotherapy and those with unknown final histology were excluded. We utilized 4 cm (the accepted definition of a SRM in adults), as the optimal size cut-point to predict WT. Statistical analysis was performed to describe the predictive characteristics of preoperative TS (<4cm vs ≥4cm) on final histology. Histologies deemed appropriate for RN were WT, clear cell sarcoma of the kidney, and rhabdoid tumor of kidney, while those deemed appropriate for NSS were renal cell carcinoma or benign histology. Finally, we analyzed if preoperative TS on imaging correlated with TS on final pathology. RESULTS: 134 patients met inclusion criteria. 97 (72.3%) tumors were WT. There were 12 tumors <4 cm. Tumors ≥4cm compared to tumors <4cm had a significantly higher likelihood of being WT vs non-WT (OR 17.54, 95% CI 3.53, 87.22), of being malignant vs benign (OR 4.73, 95% CI 1.34, 16.72), and of having RN-appropriate histology vs NSS-appropriate histology (OR 30.42, 95% CI 5.92, 156.3). There was a strong positive Spearman correlation of 0.87 (p<0.0001) between preoperative imaging TS and postoperative pathology TS. CONCLUSIONS: The probability that a pediatric renal mass is WT increases with TS. 4cm is a logical cut-point that can be used to define a pediatric SRM. This cut-point may be able to predict the probability of WT and determine patient eligibility for diagnostic NSS and intraoperative FS. Source of Funding: University of Colorado Cancer Center Support Grant (P30CA046934) © 2021 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 206Issue Supplement 3September 2021Page: e962-e962 Advertisement Copyright & Permissions© 2021 by American Urological Association Education and Research, Inc.MetricsAuthor Information Daniel Han More articles by this author Peter Boxley More articles by this author Andrew Nicklawsky More articles by this author Nina Mikkilineni More articles by this author Sarah Hecht More articles by this author Amanda Saltzman More articles by this author Nicholas Cost More articles by this author Jonathan Walker More articles by this author Expand All Advertisement Loading ...

Aggressive uncommon pediatric renal tumor: Rhabdoid tumor of kidney

Rhabdoid tumor of kidney is one of the uncommon pediatric renal neoplasms with highly aggressive clinical course. We are presenting a case of 1 year child with abdominal distension and hematuria. On Contrast enhanced computed tomography (CECT) a heterogenous mass in lower pole of kidney was detected. Histopathological and immunohistochemical study after radical nephrectomy revealed Malignant rhabdoid tumor of kidney. It has a tendency to metastasize early and it is associated with synchronous presence of other malignancies. No definite effective treatment for this tumor is available till now. This further necessitates the early diagnosis and prompt management which can be life saving for the patient. We are presenting this case to emphasize on its rarity and aggressive clinical behaviour. Keywords: Rhabdoid tumor, Kidney neoplasm.

Rhabdoid Tumour of Kidney with Metastasis to Ovary – A Rare Presentation

Rhabdoid Tumour of Kidney with Metastasis to Ovary – A Rare Presentation

Paediatric Renal Tumors with Subcapsular Fluid Sign: Is it Specific for Rhabdoid Tumors

Paediatric renal tumors are commonly encountered entities in clinical oncology, Wilms’ being the most common histology. Other histological types include Rhabdoid tumor, Clear Cell Sarcoma, PNET, etc. Though CT/MRI scan is perfomed for staging, it cannot differentiate between the histological types. However, there are a few imaging features which indicate certain pathologies. Rhabdoid tumors of kidney are associated with subcapsular haemorrhage which leads to ‘Subcapsular fluid sign’. We present our case to acquaint the radiologists with this sign and recommend exercising caution while interpreting it.

PNET of kidney : Report of four cases

Primitive neuroectodermal tumor (PNET) of kidney is a rare tumor of kidney with only a few published reports. We report here four cases of PNET of kidney in the age group between 30 and 50 years who had complaints of vague pain and lump in loin. Hematuria was present in one case. Imaging of all cases revealed renal mass. The pathologic findings were consistent with PNET in all cases–confirmed by immunohistochemistry with diffuse membrane positivity of tumor cells of CD99. We could not do fluorescent in situ hybridization to demonstrate EWS-FLI-1 gene fusion. Each case was in the advanced stage. However, after giving postoperative radiotherapy and chemotherapy patients are still alive. Reporting of these cases are important as we got them in a short span of 3 years. In view of its poor prognosis, aggressive nature and different therapeutic approach– renal PNET should be differentiated from other small blue round cell tumors like neuroblastoma, rhabdoid tumor of kidney, nephroblastoma, small cell carcinoma, synovial sarcoma (monophasic, poorly differentiated) and non-Hodgkin lymphoma (NHL) by immunohistochemistry, cytogenetic, and molecular genetics study to see the different gene rearrangements in NHL and 3p deletion in small cell carcinoma.

The cytological diagnosis of paediatric renal tumours

Fine needle aspiration cytology (FNAC) is used for preoperative diagnosis of paediatric renal tumours, especially in centres where preoperative chemotherapy is advocated in Wilms’ tumour. This review focuses on salient...

Malignant renal tumours incidence and survival in European children (1978–1997): Report from the Automated Childhood Cancer Information System project

More than 5000 cases of malignant renal tumour diagnosed in children under the age of 15 years during the period 1978–1997 in Europe, were extracted from the database of the Automated Childhood Cancer Information System (ACCIS). In 1988–1997 the age-standardised incidence rate of childhood renal tumours in Europe was 8.8 per million, with significant differences between regions. Wilms’ tumour (WT, M-8960) accounted for 93% of renal tumours and about 7% were bilateral. The incidence rates of WT increased over the 20 years, by 0.7% per year. European 5-year survival for children diagnosed with WT in 1988–1997 was 85%, ranging from 73% in the East to 91% in the North. Patients in the age group 0–3 years at diagnosis had a more favourable prognosis (5-year survival 87%) than those diagnosed later (81%), P < 0.0001. Patients with unilateral WT ( n = 2085) had better 5-year survival (85%) than 154 patients with bilateral tumours (76%), P = 0.003. Five-year survival for 64 patients with clear cell sarcoma of kidney was 68%, for 43 patients with rhabdoid tumour of kidney it was 23%, and for 56 patients with renal cell carcinoma it was 87%. For combined European data, 5-year survival for WT increased from 73% in 1978–1982 to 87% in 1993–1997 and the increase was significant in three out of five regions (East, North and West). Further development and exploitation of the ACCIS database will benefit clinical management and aetiological studies.

Non‐linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome

Rhabdoid tumors represent an independent entity among embryonal neoplasms. These tumors affect the kidney (RTK, rhabdoid tumor of kidney) and central nervous system (AT/RT, atypical teratoid, rhabdoid tumor), but may also be found in peripheral soft tissue. Unifying features include immunohistochemical characteristics and inactivation of the putative tumor suppressor gene SMARCB1 (hSNF5/INI1) in chromosome 22q11.2. Several familial cases have been published and summarized under the term rhabdoid tumor predisposition syndrome. In all of the published familial cases, inactivation of SMARCB1 was detected in tumor tissues. We report on a family with three children, two of which were affected by rhabdoid tumors, one RTK, the other an AT/RT. While both children demonstrated typical morphological and clinical features neither the RTK nor the AT/RT showed evidence for inactivation of SMARCB1 in molecular studies including CGH and array CGH, FISH, gene dosage analysis by dHPLC, and DNA-sequencing. Immunohistochemistry for SMARCB1 showed normal expression within the nuclei of tumor cells. Furthermore, both children inherited different paternal and maternal SMARCB1 alleles evidenced by haplotype analysis. Conventional cytogenetic, FISH, and mutation analyses lacked evidence for SMARCB1 aberrations or gross chromosomal changes in the parents. We thus demonstrate a family with rhabdoid tumor predisposition syndrome without linkage to SMARCB1. This finding indicates that other loci than SMARCB1 below the resolution of array CGH are involved in the origin of these tumors. Our data impact on the clinical counseling of affected families and warrant further studies in the molecular biology of these enigmatic tumors.

Soft-Tissue Extrarenal Rhabdoid Tumor with a Unique Long-Term Survival

Rhabdoid tumors of kidney and extrarenal rhabdoid tumors are identified by a round-epithelioid cell morphology and a bland immunophenotype, but a distinctive ultrastructure dominated by paranuclear whorls of intermediate filaments, most usually of vimentin. These tumors are also known to be highly aggressive malignancies, which, typically, bear a poor prognosis, frequently measured in months following initial presentation. The authors record the case a soft-tissue rhabdoid tumor in a 12-year-old boy with a unique long-term survival in excess of 16 years. The features of this case are documented, with a brief summary of histological, immunohistochemical, ultrastructural, and genetic characteristics of this entity.

Rhabdoid Tumor of Kidney: A Case Report and a Review of the Literature

Rhabdoid Tumor of Kidney: A Case Report and a Review of the Literature

Characterization of a cell line derived from rhabdoid tumor of kidney

Rhabdoid tumor of kidney (RTK) is a rare, highly malignant childhood neoplasm of uncertain histogenesis. Several recent studies have described considerable histochemical heterogeneity among cases of RTK, with confusing combinations of epithelial, mesenchymal, myogenous, and neuroepithelial markers in some tumors. The present study characterizes the histology, ultrastructure, histochemistry, cytogenetics, and oncogene expression in a cell line derived from RTK. The surgical specimen, nude mouse xenograft, and cell cultures demonstrated characteristic intermediate filament whorls by electron microscopy and expressed vimentin (diffusely) and cytokeratin (focally, in hyaline cytoplasmic inclusions) without detectable desmin, Thy-1, or epithelial membrane antigen. S-100 protein was absent in the surgical specimen and heterotransplant, and was seen very weakly and focally in the cell cultures. Light microscopic features of cultures were unchanged by several compounds (tissue plasminogen activator, nerve growth factor, cyclic adenosine monophosphate) which induce differentiation of some other pediatric neoplasms. The grwoth factor requirements of RTK cultures indicate a cell with mesenchymal features. Insulin-like growth factor-2 mRNA was detected in the RTK and in three Wilms' tumors also studied. Unlike most Wilms' tumors, RTK expresses the c- myc rather than the N- myc oncogene.

Rhabdoid Tumor of Kidney

We review 111 cases of rhabdoid tumor of kidney (RTK), including 79 entered on the National Wilms' Tumor Study (NWTS). Median age at diagnosis was 11 months, with a range from 0 to 106 months. The male:female ratio was 1.5:1. Gross features included a characteristic involvement of perihilar renal parenchyma. A wide histological spectrum was encountered, including nine major morphological patterns (classical, epithelioid, sclerosing, lymphomatoid, histiocytoid, etc.). These appearances invite confusion with other renal neoplasms. Ultrastructural studies were performed in 20 cases; immunocytochemical studies were performed in 11. Vimentin was demonstrated in all tumors; epithelial membrane antigen was seen in 7. Nonspecific decoration of cytoplasmic inclusions by a variety of immunostains was found in several cases. Several findings suggested that RTK might arise from primitive cells involved in formation of the renal medulla. There was no evidence of a histogenetic relationship to Wilms' tumor, although RTK may overlap with mesoblastic nephroma and clear cell sarcoma. Of the 70 NWTS patients with adequate follow-up, 56 (80%) have died. Every patient presenting with distant metastases died, whereas 10 of 20 with negative nodes survived. Survival rates were higher for girls (56.3% versus 11.1%). None of the histological variables had independent prognostic significance.