RESUMO
Adipose tumors are rare in pediatric age and are commonly represented by benign forms: lipoma and lipoblastoma/lipoblastomatosis. Generally localized in subcutaneous tissue of the trunk and extremities, they can exceptionally occur as giant intra-peritoneal or pelvic masses. These tumors could reach considerable size prior to diagnosis since they are asymptomatic. The authors report a case series of three giant abdomino-pelvic adipose tumors.
Assuntos
Neoplasias Lipomatosas/diagnóstico , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Pélvicas/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Biópsia , Criança , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios XRESUMO
We report on a boy with three cell lines: 46,XY, r(11)(p15.5,q25)[90]/45,XY,-11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridization (CGH) performed on peripheral blood leukocytes of the patient led to the identification of a constitutional duplication of 4.8 Mb at 11p15.5-11p15.4. This duplication was found to involve the chromosome of paternal origin, and occurred in tandem on the ring chromosome 11. Despite the constitutive duplication of the paternal 11p15 chromosome region, the patient showed no sign of Beckwith-Wiedemann syndrome. However, the molecular characterization of the two neoplasias was consistent with their independent origin and showed that they arose from the two distinct cellular clones with the ring chromosome, indicating that this anomaly is likely to have caused the patient's susceptibility to WT development.
Assuntos
Cromossomos Humanos Par 11/genética , Análise Citogenética , Mosaicismo , Cromossomos em Anel , Tumor de Wilms/genética , Tumor de Wilms/patologia , Adulto , Pré-Escolar , Hibridização Genômica Comparativa , Variações do Número de Cópias de DNA/genética , Metilação de DNA/genética , Feminino , Genótipo , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Cariotipagem , Leucócitos Mononucleares/metabolismo , Masculino , Gravidez , Regiões Promotoras Genéticas/genética , Adulto JovemRESUMO
AIM: Pathological complete response (pCR) and clinical outcomes [overall survival (OS), disease-free survival (DFS), locoregional control (LC)] were evaluated in a single-institution experience of different schedules of neoadjuvant chemoradiotherapy (CRT) for patients with locally advanced rectal cancer (LARC). PATIENTS AND METHODS: Data for 322 patients with LARC were retrospectively analyzed. pCR was evaluated according to Mandard tumor regression grade (TRG). The Kaplan-Meier method was used to estimate OS, DFS and LC. RESULTS: Three hundred and three (94.1%) patients underwent surgery. pCR was observed in 81 patients (26.7%), with TRG1-2 rate of 41.8%. The 5- and 10-year OS, DFS and LC rates were 82.5%±2.5% and 65.5%±3.8%, 81.2%±2.4% and 79.3%±2.9%, 93.1%±1.7% and 90.5%±2.1%, respectively. CONCLUSION: Neoadjuvant CRT in LARC patients resulted in favorable long-term oncological outcomes, with a high pCR rate and acceptable toxicity.
Assuntos
Neoplasias Retais/patologia , Neoplasias Retais/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Quimiorradioterapia , Terapia Combinada , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Terapia Neoadjuvante , Gradação de Tumores , Metástase Neoplásica , Estadiamento de Neoplasias , Prognóstico , Neoplasias Retais/mortalidade , Resultado do TratamentoRESUMO
Prepubertal testicular tumors are rare, and teratoma is the second most frequent histologic type. Its typical features are those of a hard and painless scrotal mass at clinical examination, and nonhomogeneous, echoic, often with calcifications at ultrasonography. Rare but reported is the atypical presentation as a transilluminating scrotal mass, due to the presence of some internal cystic areas, detectable at ultrasonography. We report the case of an infant with a transilluminating scrotal mass, mimicking at ultrasonography and surgery a simple, fully liquid cyst, which the pathologic examination revealed to be mature cystic testicular teratoma.
Assuntos
Cistos/diagnóstico , Teratoma/diagnóstico , Neoplasias Testiculares/diagnóstico , Diagnóstico Diferencial , Humanos , Lactente , Masculino , Teratoma/diagnóstico por imagem , Teratoma/cirurgia , Neoplasias Testiculares/diagnóstico por imagem , Neoplasias Testiculares/cirurgia , Transiluminação , UltrassonografiaRESUMO
Strongyloides stercoralis is a ubiquitous intestinal nematode, endemic in tropical and subtropical areas, with an unusual life cycle in which autoinfection can take place. In the immunosuppressed host, autoinfection is accelerated and larvae can spread in all organs, leading to hyperinfection syndrome or to disseminated disease. Strongyloidiasis is presently rare in Western Countries, often with delayed diagnosis due to a lack of clinical suspicion, nonspecific presentation, and low parasite intestinal output. Foreign HIV-infected patients from endemic areas are at increased risk of severe disease caused by this parasite. Here we report the case of a patient with disseminated lethal disease, whose disseminated state was missed 2 years prior to the current presentation. This emblematic case shows that intestinal parasitic infections, highly prevalent in Sub-Saharan Africa, Southeast Asia, and Latin America, are difficult to recognize but should be thoroughly investigated and excluded in high-risk patients, to prevent severe long-term lethal sequelae.