RESUMO
Tonsillectomy is a common procedure in the pediatric population, with subsequent microscopic examination of the specimen for cancer and other rare diagnoses occurring routinely. A 17 year-old female with a history of autoimmune vasculitis underwent adenotonsillectomy for severe obstructive sleep apnea. Pathology demonstrated small, medium and large lymphocytes and plasma cells obscuring the lymphoid follicles and germinal centers, with few Epstein-Barr virus positive lymphocytes. Tingible body macrophages were seen in the vaguely nodular areas. This reactive histologic pattern represents an atypical lymphoproliferative disorder never before documented in tonsils. Histopathologic images will be shown.
Assuntos
Transtornos Linfoproliferativos/patologia , Tonsila Palatina/patologia , Apneia Obstrutiva do Sono/cirurgia , Tonsilectomia , Adenoidectomia , Adolescente , Feminino , Humanos , Hiperplasia , Linfócitos/patologia , Tonsila Palatina/imunologiaRESUMO
We report on a novel variant of the dicentric chromosome 17;20 (dic (17;20)(p11.2;q11.2) in a patient with de novo myelodysplastic syndrome (MDS). Based on FISH and array-CGH, the variant turns out to be an insertion of chromosome 17 (17p11.2-telomere 17) into chromosome 20 with breakpoints at 20q11.22 and 20q13.33. Based on conventional chromosome analysis and G-banding patterns, the region 17p11.2-17q25 was directly inserted between 20q11.22 and 20q13.33. The breakpoint junctions occurred within KCNJ12 (17p11.2), UQCC1 (20q11.2), and CDH4 (20q13.3), leading to 5' deletions of all the genes and positioning the 3' of UQCC1 next to KCNJ12 at 17p11.2 and CDH4 next to an unknown gene at 17q25-20q13.3. In addition, the centromere of chromosome 17 was not active, transforming the primary constriction to a flat band. Therefore, the novel insertion variant is a pseudo dicentric derivative chromosome with one functional centromere: 45,XX,der(17;20)del(20)(q11.22q13.33)ins(20;17)(q11.2;p11.2q25). A review of the literature of all dic(17;20) cases is presented. For the first time, we report an array-CGH characterization of such rare variant that revealed to be an insertion.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 20/genética , Hibridização Genômica Comparativa , Síndromes Mielodisplásicas/genética , Linhagem da Célula , Centrômero/ultraestrutura , Bandeamento Cromossômico , Deleção Cromossômica , Feminino , Rearranjo Gênico , Humanos , Cariotipagem , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Canais de Potássio Corretores do Fluxo de Internalização/genética , Translocação GenéticaRESUMO
An abnormal clonal plasma cell proliferation with Russell bodies is rare in chronic inflammatory reactions in adult patients. We describe the first case of light chain restricted Russell body accumulation within germinal centers of lymphoid follicles of the tonsil in a child. This should not be confused with a neoplastic process.
