Rhabdomyo-sarcoma in adults and children. An update

Department of Pathology, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock 72202, USA.
Archives of pathology & laboratory medicine (Impact Factor: 2.84). 11/2006; 130(10):1454-65. DOI: 10.1043/1543-2165(2006)130[1454:RIAACA]2.0.CO;2
Source: PubMed


Rhabdomyosarcomas comprise a relatively common diagnostic entity among childhood cancers and a relatively rare one among adult tumors. They may possess a variety of histologies that generally differ among age groups. These lesions appear to be separate biologic entities as well as morphologic categories, with embryonal tumors having genetic lesions related to loss of heterozygosity and aberrant parental imprinting, alveolar tumors containing genetic fusions between PAX and forkhead genes, and pleomorphic tumors showing an accumulation of genetic lesions similar to other adult high-grade sarcomas.
To present guidelines for diagnosis of rhabdomyosarcoma and recent finding concerning the biology and classification of these lesions.
Review of recent and older published literature and distillation of the authors' experience.
Infants and young children tend to have embryonal rhabdomyosarcomas, adolescents and young adults tend to have alveolar rhabdomyosarcomas, and older adults tend to have pleomorphic rhabdomyosarcomas, although there is some overlap. Newer rare entities, including spindle cell rhabdomyosarcoma and sclerosing rhabdomyosarcoma, have been described in children and adults. Fusion-positive tumors have a distinct molecular signature with downstream activation of a number of myogenic and tumorigenic factors. Genetic testing may be successfully used for diagnosis and may guide therapy in future clinical trials. Differential diagnosis has become simpler than in previous years, because of use of myogenic factors in immunohistochemistry, but classification based solely on histologic features remains challenging.

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    • "The aRMS subtype often involves a chromosome translocation that fuses the transcription factor genes PAX3 or PAX7 with the FOXO1 locus (t(2;13)(q35;q14) or t(1;13)(q36;q14)). This creates a potent chimeric oncogene containing a PAX DNA-binding domain and a FOX transactivation domain, which induces cell proliferation and blocks apoptosis and differentiation during myogenesis [5] [6] [7]. The rare pRMS subtype appears almost exclusively in adults and is characterized by different genetic aberrations, such as the loss of chromosomes 2, 3, 14, 15, 16 and 19 [5] [8]. "
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    ABSTRACT: The treatment of rhabdomyosarcoma (RMS) is challenging, and the prognosis remains especially poor for high-grade RMS with metastasis. The conventional treatment of RMS is based on multi-agent chemotherapy combined with resection and radiotherapy, which are often marked by low success rate. Alternative therapeutic options include the combination of standard treatments with immunotherapy. We generated a microtubule-associated protein (MAP)-based fully human cytolytic fusion protein (hCFP) targeting the fetal acetylcholine receptor, which is expressed on RMS cells. We were able to express and purify functional scFv35-MAP from Escherichia coli cells. Moreover, we found that scFv35-MAP is rapidly internalized by target cells after binding its receptor, and exhibits specific cytotoxicity towards FL-OH1 and RD cells in vitro. We also confirmed that scFv35-MAP induces apoptosis in FL-OH1 and RD cells. The in vivo potential of scFv35-MAP will need to be considered in further studies. Copyright © 2015. Published by Elsevier Ireland Ltd.
    Full-text · Article · Apr 2015 · Cancer Letters
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    • "The most prominent mutation is the loss of heterozygosity at 11p15.5, which causes the overexpression of several genes that contribute to disease progression [3]. Most cases of aRMS, which represents 20% of all cases, involve a translocation between PAX3 or PAX7 and FKHR, i.e. t(2;13) (q35;q14) or t(1;13) (p36;q14), generating a potent oncoprotein expressed at high levels [4] [5]. The rare pleomorphic subtype occurs mainly in adults and has a highly complex genetic mutation pattern [6]. "
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    ABSTRACT: The treatment of rhabdomyosarcoma (RMS) remains challenging, with metastatic and alveolar RMS offering a particularly poor prognosis. Therefore, the identification and evaluation of novel antigens, which are suitable targets for immunotherapy, is one attractive possibility to improve the treatment of this disease. Here we show that chondroitin sulfate proteoglycan 4 (CSPG4) is expressed on RMS cell lines and RMS patient material. We evaluated the immunotoxin (IT) αMCSP-ETA', which specifically recognizes CSPG4 on the RMS cell lines RD, FL-OH1, TE-671 and Rh30. It is internalized rapidly, induces apoptosis and thus kills RMS cells selectively. We also demonstrate the specific binding of this IT to RMS primary tumor material from three different patients.
    Full-text · Article · Jul 2014 · Cancer Letters
    • "The analysis based on data collected by the Manchester Children's Tumor Registry during a 45-year time period (1954-1998) revealed 2511 nonlymphoreticular solid tumors, of which 1055 were CNS tumors, astrocytoma being the most common.[19] Rhabdomyosarcoma comprises the most common single soft tissue sarcoma among children and adolescents and frequently occurs in the head and neck region[20] as was seen in our study. In a large study comprising of 68 cases of soft tissue sarcomas in children in Moscow Region, Russian Federation, rhabdomyosarcoma represented 54.4% of cases.[21] "
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    ABSTRACT: Background: The aim of this study is to understand the epidemiology of tumors in children in our region due to a paucity of studies on the histologic review of the childhood tumors in general and benign tumors in particular. Materials and Methods: The records of all the tumors diagnosed histopathologically in children <14 years of age during a period of 8-year (2005-2012) were reviewed. Results: A total of 385 tumors were seen in the age range of 1 month-14 years with 231 (60%) in boys and 154 (40%) in girls. Highest number of cases, 224 (58.18%) were in the age group of 10-14 years. Benign tumors comprised 275 (71.43%) cases while the malignant tumors accounted for 110 (28.57%) cases. In benign tumors, vascular tumors were in majority with 68 cases, while in malignant category bone tumors were most common with 36 cases. Conclusions: Although the exact incidence rate cannot be provided by this hospital-based study, the information is useful in showing patterns of childhood tumors. We included both benign and malignant tumors, while most of the studies in the past have focused mainly on malignant tumors in children.
    No preview · Article · Apr 2014 · Indian journal of medical and paediatric oncology
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