RESUMEN
Rhabdomyosarcoma is the most common pediatric soft tissue malignancy. Two major subtypes, alveolar rhabdomyosarcoma and embryonal rhabdomyosarcoma, constitute 20 and 60% of all cases, respectively. Approximately 80% of alveolar rhabdomyosarcoma carry two signature chromosomal translocations, t(2;13)(q35;q14) resulting in PAX3-FOXO1 fusion, and t(1;13)(p36;q14) resulting in PAX7-FOXO1 fusion. Whether the remaining cases are truly negative for gene fusion has been questioned. We are reporting the case of a 9-month-old girl with a metastatic neck mass diagnosed histologically as solid variant alveolar rhabdomyosarcoma. Chromosome analysis showed a t(8;13;9)(p11.2;q14;9q32) three-way translocation as the sole clonal aberration. Fluorescent in situ hybridization (FISH) demonstrated a rearrangement at the FOXO1 locus and an amplification of its centromeric region. Single-nucleotide polymorphism-based microarray analysis illustrated a co-amplification of the FOXO1 gene at 13q14 and the FGFR1 gene at 8p12p11.2, suggesting formation and amplification of a chimerical FOXO1-FGFR1 gene. This is the first report to identify a novel fusion partner FGFR1 for the known anchor gene FOXO1 in alveolar rhabdomyosarcoma.
Asunto(s)
Factores de Transcripción Forkhead/genética , Amplificación de Genes , Fusión Génica , Neoplasias de Cabeza y Cuello/genética , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/genética , Rabdomiosarcoma Alveolar/genética , Cromosomas Humanos Par 13 , Cromosomas Humanos Par 8 , Cromosomas Humanos Par 9 , Análisis Citogenético , Femenino , Proteína Forkhead Box O1 , Neoplasias de Cabeza y Cuello/patología , Humanos , Hibridación Fluorescente in Situ , Lactante , Análisis de Secuencia por Matrices de Oligonucleótidos , Polimorfismo de Nucleótido Simple , Rabdomiosarcoma Alveolar/secundario , Translocación GenéticaRESUMEN
BACKGROUND: The presence of tactile corpuscle-like structures in Schwannomas, Neurofibromas and Neuroid Intradermal Melanocytic Nevi is well-documented. We report a case describing the presence of such structures in the lamina propria of grossly normal gastric mucosa. CASE PRESENTATION: A 30 year-old male underwent esophagogastrectomy for carcinoma. Examination of hematoxylin and eosin stained sections reveal tactile corpuscle-like structures in the mucosa adjacent to the main tumor mass. CONCLUSION: This is a rare phenomenon and a literature search revealed only one paper describing such structures in the benign colonic mucosa of a colectomy done for carcinoma. We did not come across any cases in the literature describing such structures in gastrointestinal specimen resected for reasons other than carcinoma. To our knowledge this would be the first case reporting the existence of tactile corpuscles-like structures in gastric mucosa.