A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma

Barrantes, Paula Cortes; Dryja, Thaddeus P.

doi:10.1080/08820538.2019.1620802

Cited by 14 publications

(6 citation statements)

References 47 publications

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“…20%) [13]. Localization within the head and neck also encompasses the area of the eye socket [85] and the parameningeal area including the nasal cavity [86], sinuses [87][88][89], the nasopharyngeal cavity [90], and the subtemporal fossa.…”

Section: Clinical Picturementioning

confidence: 99%

Diagnosis and treatment of rhabdomyosarcomas

et al. 2023

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Rhabdomyosarcoma (RMS) is a soft tissue sarcoma. The primary tumor is most commonly localized in the head and neck, the urogenital system, or the limbs. Classification by the World Health Organization has distinguished four histopathological RMS subtypes: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Differential diagnosis of RMS includes melanoma, malignant neoplasm of peripheral nerve sheaths, liposarcoma, and PE-Coma. Among typical cytogenetic changes in RMS are chromosomal translocations t(2;13)(q35;q14) and t(1;13) (p36;q14). They lead to the formation of fusion genes that have a prognostic value. In the course of RMS, changes may also be present in signaling pathways, including RAS-PI3K, Wnt/b-catenin, receptor tyrosine kinase pathways, and myogenesis regulation. In 30% of patients at the time of diagnosis of RMS, distant metastases are present, most commonly to lungs, lymph nodes, bones, and bone marrow. Treatment of patients with RMS requires a multidisciplinary approach, and steadily perfected diagnostic techniques contribute to the individualization of therapeutic strategies. Optimal treatment of localized RMS is based on surgery combined with radiotherapy and chemotherapy. If distant metastases are present, the basic therapeutic method is multidrug chemotherapy, most frequently based on vincristine, dactinomycin, ifosfamide/cyclophosphamide, and etoposide. Despite intensive treatment, the 5-year survival index for RMS is not greater than 50%. There are still no unequivocal guidelines concerning the treatment in patients with local or distant recurrences.

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Section: Clinical Picturementioning

confidence: 99%

Diagnosis and treatment of rhabdomyosarcomas

et al. 2023

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“…( 16) (Figura 3) En este caso no se realizó la determinación del gen quimérico PAX3 / PAX7-FKHR por limitaciones institucionales, el cual es empleado para el diagnóstico molecular y la identificación de subtipos de mal pronóstico, sin embargo hasta el 40% pueden no presentar estos genes de fusión. (16,17) E l m a n e j o a p r o p i a d o c o m i e n z a c o n e l establecimiento del diagnóstico patológico correcto, subtipo histológico, sitio primario, extensión de la enfermedad y extensión de resección (grupo IRSG). ( 9)…”

Section: Figura 1 Tumoración Orbitaria Derechaunclassified

Rabdomiosarcoma orbitario en el adulto jóven: a propósito de un caso clínico

Sumba

Centurión

Delgado

2022

Rev Peru Investig Salud

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Objetivo: Describir el diagnóstico, tratamiento y la evolución de un adulto jóven rabdomiosarcoma alveolar orbitario. Caso Clínico. Hombre de 20 años, consultó por dolor retro-orbitario derecho, proptosis, cefalea, disminución de la visión y fiebre. Valorado por oftalmología se planteó absceso infraorbitario derecho. Se realizó tomografía computarizada donde se observó un tumor orbitario abscedado de 38x25mm. La estadificación fue un T2bN1M0, sitio favorable, Estadio III del IRSG, riesgo intermedio. Se decidió drenaje quirúrgico y biopsia. La anatomía patológica informó rabdomiosarcoma alveolar variante sólida. Se realizó exenteración orbitaria. Se utilizó quimioterapia con esquema: vincristina, adriamicina, ciclofosfamida alternado con irinotecan. Presentó una progresión tumoral local y encefálica por lo que inicia radioterapia con criterio paliativo hemostático, falleciendo luego por complicaciones infecciosas y neurológicas. Conclusión. El rabdomiosarcoma alveolar orbitario en adultos es poco frecuente, agresivo, con alto riesgo de diseminación, y mal pronóstico. Puede simular procesos infecciosos orbitarios, como en nuestro paciente, siendo especialmente importante el diagnóstico precoz, el manejo interdisciplinario, el tratamiento precoz y el soporte de las posibles complicaciones, todo lo cual condiciona la evolución de los pacientes con rabdomiosarcoma.

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“…[2-8-11] The alveolar variant is less frequent and has a worse prognosis. [12] Cytogenetics and molecular signatures are routinely used in RMS analysis, in addition to histopathology, to determine prognosis, management, and treatment regimens. [12] In imaging studies of orbital rhabdomyosarcoma, there is usually a single unilateral orbital lesion.…”

Section: Introductionmentioning

confidence: 99%

“…[12] Cytogenetics and molecular signatures are routinely used in RMS analysis, in addition to histopathology, to determine prognosis, management, and treatment regimens. [12] In imaging studies of orbital rhabdomyosarcoma, there is usually a single unilateral orbital lesion. In larger tumors, there may be bone alteration, such as erosion of the adjacent orbital walls [13], most commonly in the retrobulbar region.…”

Section: Introductionmentioning

confidence: 99%

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Late dental and bone alterations in patients after orbital rhabdomyosarcoma treatment

de Mattos,

Ferman,

Magalhães

et al. 2024

Preprint

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Purpose: Orbital rhabdomyosarcoma is a rare soft tissue sarcoma in childhood but with a good prognosis. Treatment usually includes surgery, chemotherapy, and radiotherapy. This study aimed to evaluate long-term alterations in teeth and cranial bones in children, adolescents, and young adults after oncologic treatment for childhood orbital rhabdomyosarcoma. Method: This was a cross-sectional study that evaluated patients treated for orbital rhabdomyosarcoma between 1988 and 2011. Demographic, clinical, and treatment data were collected during the study period; also, panoramic radiographs, cephalometric study, and photographs of the face were taken. Results: Eight long-term survivors were studied. Of those, 50% were male, 75% had less than 5 years of treatment, and 88% had only one of the orbits affected by the tumor. Regarding treatment, 50% received 50.4 Gy of radiotherapy in the orbit; the chemotherapy included vincristine, actinomycin D, and cyclophosphamide in 75% of the cases and also ifosfamide and etoposide in 25%. The children presented craniofacial alterations, mainly when radiotherapy occurred between 0 and 5-year- old. (p=0.01) The mandibles also showed dental alterations, probably due to chemotherapy. Conclusion: In conclusion, orbital RMS patients treated with chemoradiotherapy, important dental and facial bone alterations were found. The most significant were in the maxilla and close to the irradiation field. Dental and mandibular bone alterations were also found, indicating the probable chemotherapy action, as this region was not included in the irradiation field.

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A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma

Cited by 14 publications

References 47 publications

Diagnosis and treatment of rhabdomyosarcomas

Diagnosis and treatment of rhabdomyosarcomas

Rabdomiosarcoma orbitario en el adulto jóven: a propósito de un caso clínico

Late dental and bone alterations in patients after orbital rhabdomyosarcoma treatment

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