Introduction: Extracranial rhabdoid tumours are rare, highly aggressive malignancies primarily affecting young children. The EU-RHAB registry was initiated in 2009 to prospectively collect data of rhabdoid tumour patients treated according to the EU-RHAB therapeutic framework.
Methods: We evaluated 100 patients recruited within EU-RHAB (2009-2018). Tumours and matching blood samples were examined for SMARCB1 mutations by sequencing and cytogenetics.
Results: A total of 70 patients presented with extracranial, extrarenal tumours (eMRT) and 30 with renal rhabdoid tumours (RTK). Nine patients demonstrated synchronous tumours. Distant metastases at diagnosis (M+) were present in 35% (35/100), localised disease (M0) with (LN+) and without (LN-) loco-regional lymph node involvement in 65% (65/100). SMARCB1 germline mutations (GLM) were detected in 21% (17/81 evaluable) of patients. The 5-year overall survival (OS) and event-free survival (EFS) rates were 45.8 ± 5.4% and 35.2 ± 5.1%, respectively. On univariate analyses, age at diagnosis (≥12 months), M0-stage, absence of synchronous tumours, absence of a GLM, gross total resection (GTR), radiotherapy and achieving a CR were significantly associated with favourable outcomes. In an adjusted multivariate model presence of a GLM, M+ and lack of a GTR were the strongest significant negative predictors of outcome.
Conclusions: We suggest to stratify patients with localised disease (M0), GTR+ and without proof of a GLM (5-year OS 72.2 ± 9.9%) as 'standard risk'. Patients presenting with one of the features M+ and/or GTR- and/or GLM+ belong to a high risk group (5-year, OS 32.5 ± 6.2%). These patients need novel therapeutic strategies such as combinations of targeted agents with conventional chemotherapy or novel experimental approaches ideally within international phase I/II trials.
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http://dx.doi.org/10.1016/j.ejca.2020.10.004 | DOI Listing |
Cell Rep Med
December 2024
Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands; Oncode Institute, Utrecht, the Netherlands. Electronic address:
Malignant rhabdoid tumor (MRT) is one of the most aggressive childhood cancers for which no effective treatment options are available. Reprogramming of cellular metabolism is an important hallmark of cancer, with various metabolism-based drugs being approved as a cancer treatment. In this study, we use patient-derived tumor organoids (tumoroids) to map the metabolic landscape of several pediatric cancers.
View Article and Find Full Text PDFExp Oncol
December 2024
Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine.
Rhabdoid tumor is a rare and aggressive neoplasm that usually occurs in children and is often localized in the central nervous system and kidneys, but can be found in many other sites. In our case report, we describe a tumor that was found on computed tomography in the thoracic region of a 62-year-old male and was successfully surgically resected. The images and descriptions of our findings and the results of the additional immunohistochemical studies allow us to make the final diagnosis.
View Article and Find Full Text PDFPediatr Blood Cancer
December 2024
Division of Oncology, Children's National Hospital and Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.
Purpose: National Wilms Tumor Study-5 (NWTS-5) and AREN0321 evaluated the outcomes of children with rhabdoid tumor of the kidney (RTK) and malignant rhabdoid tumor of soft tissues (MRT).
Patients And Methods: Eligible patients with RTK were enrolled prospectively on NWTS-5 (1995-2002) and treated with carboplatin and etoposide alternating with cyclophosphamide (Regimen RTK). Patients with RTK or MRT were enrolled on AREN0321 (2005-2012) and received vincristine, doxorubicin, and cyclophosphamide alternating with carboplatin, cyclophosphamide, and etoposide (Regimens UH-1 or dose-reduced Revised UH-1).
Virchows Arch
December 2024
Department of Pathology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
EWSR1/FUS::TFCP2-rearranged rhabdomyosarcoma (RMS) is a rare tumor with an aggressive clinical course, a predilection for craniofacial bones, spindled and/or epithelioid histomorphology, and positive immunohistochemistry (IHC) for epithelial and myogenic markers, along with variable ALK expression. Herein, we present four additional cases of primary cutaneous TFCP2-rearranged RMS. Notably, one tumor (case 1) displayed a varied pathological spectrum, initially presenting as a low-grade spindle cell neoplasm, but progressed into a high-grade spindle/epithelioid tumor.
View Article and Find Full Text PDFJ Am Soc Cytopathol
November 2024
Cytopathology Center of Excellence, Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
Introduction: Renal cell carcinoma (RCC) involves serosal surfaces in 2%-3% of cases, and thus few papers describe serous fluid cytology (SFC) involvement by RCC. This diagnosis is challenging, given its rarity, nondescript cytomorphologic features and infrequent expression of widely used epithelial markers MOC31 and BerEP4. We describe our institutional experience with RCC in SFC specimens.
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