ABSTRACT
Spindle cell and sclerosing rhabdomyosarcoma (ssRMS) is a rare variant of rhabdomyosarcoma, which includes three distinct subtypes. In infants, these tumors are commonly associated with recurring fusions involving VGLL2 or NCOA2 and have a favorable prognosis. We present four cases of ssRMS and 16 additional cases from the literature, which show that these patients present with localized disease and have an excellent prognosis regardless of surgical margin or lack of radiation therapy. Molecularly defined spindle cell rhabdomyosarcoma in infants is likely a biologically distinct entity which may not require the aggressive multimodal treatment used for other subtypes of rhabdomyosarcoma.
Subject(s)
Rhabdomyosarcoma, Embryonal/congenital , Soft Tissue Neoplasms/congenital , Amputation, Surgical , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Chemotherapy, Adjuvant , Combined Modality Therapy , Cyclophosphamide/administration & dosage , Dactinomycin/administration & dosage , Extremities/pathology , Female , Foot Diseases/congenital , Foot Diseases/drug therapy , Foot Diseases/genetics , Foot Diseases/surgery , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases/drug therapy , Infant, Premature, Diseases/genetics , Infant, Premature, Diseases/surgery , Male , Nuclear Receptor Coactivator 2 , Oncogene Proteins, Fusion/genetics , Remission Induction , Rhabdomyosarcoma, Embryonal/drug therapy , Rhabdomyosarcoma, Embryonal/genetics , Rhabdomyosarcoma, Embryonal/surgery , Soft Tissue Neoplasms/drug therapy , Soft Tissue Neoplasms/genetics , Soft Tissue Neoplasms/surgery , TEA Domain Transcription Factors , Thigh , Thoracic Neoplasms/congenital , Thoracic Neoplasms/drug therapy , Thoracic Neoplasms/genetics , Thoracic Neoplasms/surgery , Thoracic Wall/pathology , Vincristine/administration & dosageABSTRACT
Tumours with skeletal-muscle differentiation are rare in companion animals. They are differentiated into benign rhabdomyomas and malignant rhabdomyosarcomas. A female German Holstein calf displayed a congenital, spherical, subcutaneous mass at the lateral side of the head. Histology revealed an encapsulated, expansile, highly cellular mass consisting of a reticular meshwork of moderately pleomorphic, small spindle-shaped to round cells within a fibrovascular to myxoid stroma as well as multifocal, large, blunt, multinucleated myotube-like cells (strap cells). Electron microscopy demonstrated characteristic cytoplasmic bundles of myofilaments and Z-stripes within the strap cells. Immunoreactivity for vimentin was observed in the small spindle-shaped cells and for desmin in the strap cells. The results are consistent with the spectrum of findings characteristic for a bovine congenital embryonal rhabdomyosarcoma.
Subject(s)
Head and Neck Neoplasms/veterinary , Rhabdomyosarcoma, Embryonal/veterinary , Animals , Animals, Newborn , Cattle , Euthanasia, Animal , Female , Head and Neck Neoplasms/congenital , Head and Neck Neoplasms/pathology , Rhabdomyosarcoma, Embryonal/congenital , Rhabdomyosarcoma, Embryonal/pathologyABSTRACT
We report a case of congenital embryonal rhabdomyosarcoma (ERMS), a rare form of rhabdomyosarcoma, featuring a karyotype with a t(2;8)(q35;q13) in a 2-week-old male infant. This is the third reported case of congenital ERMS with cytogenetic findings. The previous cases also showed a similar or possibly identical translocation. We postulate that the t(2;8)(q35;q13) is a specific abnormality in congenital ERMS, and that it involves the PAX3 gene at 2q35 and a non-yet identified gene at 8q13.
Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 19/genetics , Chromosomes, Human, Pair 1/genetics , Rhabdomyosarcoma, Embryonal/congenital , Rhabdomyosarcoma, Embryonal/genetics , Translocation, Genetic , Biopsy , Humans , Infant, Newborn , Karyotyping , Male , Rhabdomyosarcoma, Embryonal/pathologyABSTRACT
Intra-oral masses in neonates can seriously compromise the airway, potentially causing hypoxia and death if not recognized and managed appropriately. We report a case in which an intra-oral mass was diagnosed on antenatal ultrasound scan. Preparation for delivery involved a multidisciplinary team approach, with a strategy for management at delivery. The child was delivered by elective Caesarean section and had a patent airway. A tracheostomy was performed immediately after delivery. The infant underwent a debulking procedure 3 weeks after birth. A histological diagnosis of embryonal rhabdomyosarcoma was made and a course of chemotherapy commenced. The child had a partial response to treatment with considerable shrinkage of the tongue mass. We discuss the management options in neonates with intra-oral masses to provide an adequate airway and maintain fetal oxygenation. The differential diagnosis of fetal oral masses is reviewed.
Subject(s)
Airway Obstruction/etiology , Rhabdomyosarcoma, Embryonal/congenital , Tongue Neoplasms/congenital , Humans , Infant, Newborn , Male , Rhabdomyosarcoma, Embryonal/diagnostic imaging , Rhabdomyosarcoma, Embryonal/therapy , Tongue Neoplasms/diagnostic imaging , Tongue Neoplasms/therapy , Ultrasonography, PrenatalABSTRACT
Although rare, sarcoma botryoides of the vagina in infants is a highly aggressive soft tissue tumour. Former opinions suggesting exenterative surgery and radiation to improve the dismal outcome in these young children, are outdated. Due to balanced therapies (topical tumourectomy, chemotherapy and radiation adjusted to tumour stage) cure of these sarcomas may be expected dependent on tumour stage, localisation and response to chemotherapy. The rate of complete remissions has increased in recent years. We report on an eighteen-month old girl with complete remission of tumour stage IIA who had been treated according to the CWS 91 protocol. Diagnosis and treatment were performed in March 1994 at the age of six months. We observed the patient in complete remission for 8 months (till September 1995).
Subject(s)
Rhabdomyosarcoma, Embryonal/congenital , Vaginal Neoplasms/congenital , Biomarkers, Tumor/analysis , Chemotherapy, Adjuvant , Combined Modality Therapy , Female , Follow-Up Studies , Humans , Infant , Neoplasm Staging , Rhabdomyosarcoma, Embryonal/drug therapy , Rhabdomyosarcoma, Embryonal/pathology , Rhabdomyosarcoma, Embryonal/surgery , Vagina/pathology , Vagina/surgery , Vaginal Neoplasms/drug therapy , Vaginal Neoplasms/pathology , Vaginal Neoplasms/surgeryABSTRACT
Se trata de un caso de 14 años, quien consultó por dolor en región inguinoescrotal izquierda y aumento de volumen en ese hemiescroto, de 5 días de evolución, que se presentó posteriormente a la realización de un esfuerzo; concomitantemente náuseas, vómitos y ausencia de evacuaciones por 2 días
