OBJETIVO: Comparar o desempenho das sequências T1, T2, STIR e DWIBS (difusão de corpo inteiro com supressão do sinal de fundo) na identificação de sítios caracterizados como acometidos pelo linfoma de Hodgkin nas cadeias linfonodais, órgãos parenquimatosos e medula óssea, e avaliar a concordância entre os examinadores. MATERIAIS E MÉTODOS: Foram estudados 12 pacientes com diagnóstico confirmado de linfoma de Hodgkin. Os pacientes foram encaminhados para o exame de ressonância magnética, sendo realizadas as sequências ponderadas em T1, T2, STIR e DWIBS. RESULTADOS: O número de sítios linfonodais caracterizados como acometidos nas sequências ponderadas em T1 e T2 apresentaram resultados semelhantes (8 sítios), mas inferiores às sequências STIR e DWIBS (11 e 12 sítios, respectivamente). Quanto ao acometimento da medula óssea, observaram-se os mesmos valores para as sequências T1, T2 e DWIBS (17 lesões), superiores ao valor encontrado na sequência STIR (13 lesões). Quando realizada a comparação entre os examinadores, nota-se que há alta concordância entre as quatro sequências. CONCLUSÃO: As sequências STIR e DWIBS detectaram maior número de linfonodos caracterizados como acometidos. Todas as sequências apresentaram resultados semelhantes na avaliação dos órgãos parenquimatosos e medula óssea. Em todas as sequências analisadas houve alta concordância entre os examinadores.
Pediatric tumors share few recurrent mutations and are instead characterized by copy number alterations (CNAs). The cell-free DNA (cfDNA) is a prominent source for the detection of cancer-specific biomarkers in plasma. We profiled CNAs in the tumor tissues for further evaluation of alterations in 1q, MYCN and 17p in the circulating tumor DNA (ctDNA) in the peripheral blood at diagnosis and follow-up using digital PCR. We report that among the different kinds of tumors (neuroblastoma, Wilms tumor, Ewing sarcoma, rhabdomyosarcoma, leiomyosarcoma, osteosarcoma and benign teratoma), neuroblastoma presented the greatest amount of cfDNA, in correlation with tumor volume. Considering all tumors, cfDNA levels correlated with tumor stage, metastasis at diagnosis and metastasis developed during therapy. In the tumor tissue, at least one CNA (at CRABP2, TP53, surrogate markers for 1q and 17p, respectively, and MYCN) was observed in 89% of patients. At diagnosis, CNAs levels were concordant between tumor and ctDNA in 56% of the cases, and for the remaining 44%, 91.4% of the CNAs were present only in cfDNA and 8.6% only in the tumor. Within the cfDNA, we observed that 46% and 23% of the patients had MYCN and 1q gain, respectively. The use of specific CNAs as targets for liquid biopsy in pediatric patients with cancer can improve diagnosis and should be considered for monitoring of the disease response.
Marked differences in B/M are evident between centers, which cannot be explained by the confounding effect of age or by any apparent difference in the diagnostic protocol. The observed differences are likely ascribed to individual variations in diagnostic aggressivity. A progressive increase of the predictive value of calls for surgical biopsy may be achieved over time and centers with a high B/M should make every effort to optimize their performance. Acceptable (< 40 = 5, 40-49 = 1.5, 50-59 = 0.75, > 59 = 0.3) and desirable (2.5, 0.75, 0.35, 0.15) age specific reference standards for B/M are proposed.
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