Rabdomiosarcoma del ala nasal en un paciente pediátrico. Un reporte de caso / Nasal ala Alveolar Rhabdomyosarcoma in a pediatric patient. A rare case report

Dada la respiración nasal preferencial que tiene la población pediátrica en los primeros meses de vida, la obstrucción nasal tiene más repercusiones a nivel clínico a diferencia de un adulto, lo cual hace más prioritario su diagnóstico y manejo. Una de las principales causas de obstrucción nasal en niños son las masas nasales, las cuales debido a sus múltiples etiologías causan bastante incertidumbre diagnóstica en el equipo médico. En este artículo se presenta el caso de una paciente de 10 meses con una masa en el ala nasal de crecimiento rápido; se realiza un rápido diagnóstico de rabdomiosarcoma que requiere un adecuado manejo. El rabdomiosarcoma con patrón alveolar se presenta de forma inusual en esta ubicación, es por esto por lo que se considera importante presentar este caso para mantenerlo en el algoritmo diagnóstico como una posibilidad y que, así como en el caso presentado, se pueda tener un diagnóstico temprano, un tratamiento adecuado y un resultado estético y funcional favorable.

Given preferential nasal breathing in the first months of life in the pediatric population, nasal obstruction has more clinical repercussions than it would have in adults, hence the need to give higher priority to its diagnosis and management. One of the main causes of nasal obstruction in children is the presence of nasal masses, which cause considerable diagnostic uncertainty in the medical team, because of their multiple etiologies. In this article, the case of a 10-month-old patient with a rapidly growing mass in the nasal ala is presented. A rhabdomyosarcoma was promptly diagnosed and adequately managed. Rhabdomyosarcoma with an alveolar pattern occurs in an unusual way in this location; for this reason, this case is important in order to include this possibility in the diagnostic algorithm and, as was the case in this patient, reach an early diagnosis and institute adequate treatment resulting in favorable aesthetic and functional results.

Rabdomiossarcoma cutâneo primário de padrão alveolar: relato de caso em adulto jovem / Primary cutaneous alveolar rhabdomyosarcoma: Case report in a young adult

Sarcomas são neoplasias mesenquimais malignas, raras, que acometem, principalmente, crianças e adolescentes. O rabdomiossarcoma, subtipo oriundo da musculatura esquelética, é condição incomum em adultos, acometendo sítios de localização não habitual, crescimento rápido e de difícil tratamento. Apresenta-se caso de adulto jovem com nodulação em lóbulo auricular esquerdo, cuja análise histopatológica e imuno-histoquímica confirmou tratar-se de rabdomiossarcoma alveolar, o qual foi conduzido em conjunto com a Oncologia.

Sarcomas are rare and malignant mesenchymal neoplasms that mainly affect children and adolescents. Rhabdomyosarcoma, a subtype originating from skeletal muscle, is an uncommon condition in adults. It affects sites of unusual location, presents fast growth, and is challenging to treat. We report a case of a young adult with nodules in the left auricular lobe. The histopathological and immunohistochemical analysis confirmed the alveolar rhabdomyosarcoma, and treatment was conducted in association with Oncology.

Clinicopathological features and prognosis of pediatric alveolar rhabdomyosarcoma / 中华病理学杂志

Objective@#To investigate the clinicopathological features, diagnosis, differential diagnosis, treatment and prognosis of pediatric alveolar rhabdomyosarcoma (ARMS).@*Methods@#The clinical and pathological data of 25 pediatric ARMS from 2008 to 2018 in Children′s Hospital of Fudan University were collected. This histomorphology was assessed, and FOXO1 gene rearrangement was detected with FISH. The treatment details and outcome were analyzed.@*Results@#There were 13 males and 12 females, with ages range from 19 days to 14 years (median 6 years, mean 6.2 years). The ARMS were located in the limbs (13 cases), head and neck (4 cases), trunk (3 cases), abdominal cavity (3 cases), scrotum (1 case) and perianal region (1 case). The ARMS were classified histologically as classic group (18 cases), solid group (5 cases) and embryonic-alveolar mixed group (2 cases). The typical pathological characteristics were small dark round cells arranged in solid, glandular and papillary patterns. The tumor cells expressed ALK (D5F3) (21/25, 84.0%), muscle origin DES (23/25, 92.0%), myogenin (22/25, 88.0%), MYOD1 (19/25, 76.0%), and in some cases they also expressed neurogenic marker Syn (6/25, 24.0%). FOXO1 gene rearrangement was detected by FISH in 24/25 cases (96.0%).@*Conclusion@#Pediatric ARMS is rare and has unique clinicopathological characteristics, and needs to be differentiated from other common small round cell malignancies in children. ALK, DES, myogenin, MYOD1 immunohistochemistry and FOXO1 gene rearrangement are valuable aid in the diagnosis of ARMS.

Rabdomiossarcoma alveolar cutâneo primário em paciente pediátrico / Primary cutaneous alveolar rhabdomyosarcoma in a pediatric patient

O rabdomiossarcoma é o tumor de partes moles mais comum na infância, sendo raro o acometimento exclusivamente cutâneo. Apresenta-se caso de criança com nódulo doloroso na face, cuja análise histopatológica e imunoistoquímica confirmou tratar-se de rabdomiossarcoma, o qual foi conduzido por equipe multidisciplinar. Os tumores de partes moles são responsáveis por 6 por cento de todos os tumores infantis; destes, 53 por cento são rabdomiossarcomas, que podem acometer qualquer sítio. A manifestação como nódulo dérmico é incomum, representando um desafio diagnóstico, já que não possui características clínicas que o diferenciem de outras patologias.

Rhabdomyosarcoma is the most common soft tissue tumor in childhood; however, it rarely affects only the skin. This case report describes a child with a painful nodule on her face. Histopathology and immunohistochemistry confirmed the diagnosis of rhabdomyosarcoma, and a multidisciplinary team then followed up the patient. Soft tissue tumors are responsible for 6 percent of all childhood tumors, and 53 percent of these are rhabdomyosarcomas, which may affect any part of the body. Presentation in the form of skin nodules is rare and represents a diagnostic challenge, since there are no clinical characteristics that differentiate this condition from other pathologies.