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Rhabdomyosarcoma
Published in Mark Davenport, James D. Geiger, Nigel J. Hall, Steven S. Rothenberg, Operative Pediatric Surgery, 2020
Gideon Sandler, Andrea Hayes-Jordan
Rhabdomyosarcoma (RMS) accounts for 2−4.5% of all childhood cancer with an incidence of 4.5 cases per million children. It has a bimodal age distribution, reflecting its two main histological subtypes. Embryonal rhabdomyosarcoma (ERMS) accounts for 57% cases and is more common in younger children and males. Older children are affected equally by ERMS and alveolar rhabdomyosarcoma (ARMS), though with a lower incidence overall, the latter accounting for 23% cases. Other rarer types include pleomorphic (anaplastic) RMS and spindle-cell RMS. Most cases are sporadic. Genetic disorders that predispose to RMS include Li Fraumeni syndrome (p53 mutation), neurofibromatosis type I (NF1 mutation), DICER I mutations, Costello syndrome (germline HRAS mutation), Beckwith−Wiedemann syndrome (11p15.5 mutation), Gorlin syndrome (PTCH1 mutation) and Noonan syndrome. Other pathogenic genes include loss of 11p15 heterozygosity, gains in chromosome 8, NRAS mutations, and NMYC and CDK4 amplification. Approximately 75% of ARMS is associated with PAX3−FOXO1 or PAX7−FOXO1 gene fusions.
Monoclonal Antibodies Used for the Diagnosis of the Small Round Cell Tumors of Childhood
Published in John T. Kemshead, Pediatric Tumors: Immunological and Molecular Markers, 2020
J.T. Kemshead, J. Clayton, K. Patel
Within the small round cell tumors of childhood, desmin expression in rhabdomyosarcoma cells has proven to be the most reliable marker in our studies. This has been found to be present in all embryonal rhabdomyosarcoma (14/14) and 3/5 rhabdomyosarcoma cell lines examined.36 No binding to neuroblastoma, Ewing’s sarcoma, or lymphoblastic leukemia/lymphoma tissues of cell lines was identified. Coexpression of intermediate filament proteins can occur with vimentin also being identified in rhabdomyosarcoma (8/9). The specificity of vimentin expression in this group of tumors is weak as it has been identified in Ewing’s sarcomas and leukemias/lymphomas (see Figure 5).
Paediatric cancer
Published in Peter Hoskin, Peter Ostler, Clinical Oncology, 2020
The common soft-tissue tumour to occur in children is the embryonal rhabdomyosarcoma. This differs significantly from the alveolar form, which occurs particularly in adolescents, and pleomorphic forms of rhabdomyosarcoma found in adults.
Recurrent Giant Cell Fibroblastoma in an Infant: A Diagnostic Challenge
Published in Fetal and Pediatric Pathology, 2022
Priyanka Maity, Uttara Chatterjee, Mou Das, Sabita Patra
A 14 months old boy presented with a recurrent mass in the left hemiscrotum. He first presented with a mass at the same site six months earlier. USG and CT suggested a testicular tumor (Fig. 1a). His serum alpha-fetoprotein was normal. FNAC from the mass was a spindle cell tumor, suggestive of embryonal rhabdomyosarcoma (ERMS). The tumor was excised and diagnosed as embryonal rhabdomyosarcoma. The patient received six cycles of vincristine, actinomycin D and cyclophosphamide (VAC). Our review of the FNAC slides showed a moderately cellular lesion composed of bland spindle cells in clusters and singly. The spindle cells had bland nuclei, bipolar cytoplasm and indistinct nucleoli. Occasional giant cells were noted with nuclei gathered at one end. Myxoid material was present focally. There were no mitoses, necrosis or atypia. There were no strap cells to suggest rhabdomyoblastic differentiation (Fig. 1, b–e).
45 GyRBE for group III orbital embryonal rhabdomyosarcoma
Published in Acta Oncologica, 2019
Daniel J. Indelicato, Ronny L. Rotondo, Raymond B. Mailhot Vega, Haruka Uezono, Scott Bradfield, Vibhuti Agarwal, Marinka L. Hol, Julie A. Bradley
Over the past two decades, the high cure rate for embryonal rhabdomyosarcoma of the orbit has prompted international efforts to de-intensify treatment. This effort has taken two broad forms in cooperative group studies via (a) reducing exposure to alkylating chemotherapy and (b) reducing exposure to ionizing radiation through lower prescription doses and smaller radiotherapy target volumes. A recent report from the Children’s Oncology Group (COG) [1]; however, asserts that children with group III embryonal orbital rhabdomyosarcoma who receive lower cumulative doses of cyclophosphamide (4.8 g/m2) and a lower radiation dose (45 Gy) to the tumor plus a 1-cm margin are at an increased risk of local failure compared to the historic Intergroup Rhabdomyosarcoma Study (IRS)-IV patients who received 26.4 g/m2 cyclophosphamide and 50.4 to 59.4 Gy to the tumor plus a 2-cm margin [2,3]. Specifically, the 5-year local failure rate increased from 2% to 13%. Patients with tumors demonstrating a partial response to induction chemotherapy were shown to be at particular risk of failure—approaching 16%—following the de-intensified therapy regimen. These findings prompted many COG institutions to revert to a dose of 50.4 Gy for group III orbital rhabdomyosarcoma.
Distinguishing Benign from Malignant Circumscribed Orbital Tumors in Children
Published in Seminars in Ophthalmology, 2018
Yufei Tu, Frederick A. Jakobiec, Katherine Leung, Suzanne K. Freitag
A 7-year-old boy (Figure 1B) presented with a large, nontender, mobile mass in the left medial upper eyelid which developed over three weeks. He was initially treated for a stye without improvement. His family and medical history were not contributory. He was otherwise asymptomatic, with no diplopia or systemic complaints. The relevant findings of the clinical examination were left periorbital faint erythema, absence of proptosis measured by Hertel exophthalmometry, full extraocular muscle movements, normal visual fields, unremarkable pupillary responses, and normal visual acuity and color plate perception in both eyes. The slit-lamp and fundus examinations were unremarkable. MRI of the orbit revealed a 1.9 cm localized superonasal mass. The mass was not clearly separable from the superior rectus or the superior oblique muscles, as well as the nasolacrimal sac. A biopsy was performed due to fear of a malignancy. The biopsy results revealed a spindle-cell embryonal rhabdomyosarcoma.