Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants.

Soft tissue tumors of infancy encompass an overlapping spectrum of diseases that pose unique diagnostic and clinical challenges. We studied genomes and transcriptomes of cryptogenic congenital mesoblastic nephroma (CMN), and extended our findings to five anatomically or histologically related soft tissue tumors: infantile fibrosarcoma (IFS), nephroblastomatosis, Wilms tumor, malignant rhabdoid tumor, and clear cell sarcoma of the kidney. A key finding is recurrent mutation of EGFR in CMN by internal tandem duplication of the kinase domain, thus delineating CMN from other childhood renal tumors. Furthermore, we identify BRAF intragenic rearrangements in CMN and IFS. Collectively these findings reveal novel diagnostic markers and therapeutic strategies and highlight a prominent role of isolated intragenic rearrangements as drivers of infant tumors

Surgery for benign insulinoma: An international review

In a multiinstitutional review, data on 396 patients with benign solitary or multiple insulinomas operated on in 15 centers were collected. In these 396 patients, 419 laparotomies (375 primary procedures and 44 reoperations) were performed. The rate of unnecessary laparotomies was 1.7%. Complications occurred after 132 operations (31.5%), requiring 27 reinterventions (6.4%). Ten (2%) patients died within 30 days of surgery. The success rate of first procedures in the centers was 94.9%. After reoperation, all but 2 (99.5%) of these patients were cured. The overall cure rate including those patients who had their primary operations elsewhere was 97.5% . Compilant les dossiers de 15 établissements internationaux, nous avons colligé les données concernant 396 patients présentant un insulinome bénin unique ou multiple, opérés. Chez ces 396 patients, 419 laparotomies (375 interventions de première intention et 44 reprises) ont été effectuées. Le taux de laparotomie inutile était de 1.7%. Des complications sont intervenues à la suite de 132 opérations (31.5%), nécessitant 27 réinterventions (6.4%). Dix (2%) patients sont morts dans les trente jours après l'acte chirurgical. Le taux de succès des interventions de première intention dans les centres de l'étude était de 94.9%. Après réinterventions, tous les patients sauf 2 (99.5%) ont été guéris. Le taux global de guérison, y compris les patients ayant été opérés une première fois ailleurs, était de 97.5%. En una revisión multiinstitucional se recolectaron los datos sobre 396 pacientes con insulinomas benignos solitarios o múltiples operados en 15 centros. En estos 396 pacientes se efectuaron 419 laparotomías (375 procedimientos primarios y 44 reoperaciones). Se registró una tasa de laparotomías innecesarias de 1.7%; se presentaron complicaciones después de 132 operaciones (31.5%), las cuales requirieron 27 reintervenciones (6.4%). Diez (2%) pacientes murieron dentro de los primeras 30 días después de la cirugía. La tasa de éxito del procedimiento primario realizado en estos centros fue 94.9%. Después de las reoperaciones la totalidad de los pacientes, menos 2 (99.5%), fueron curados. La tasa global de curación, incluyendo los que tuvieron su operación primaria por fuera de los centros del estudio, fue 97.5%.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/41289/1/268_2005_Article_BF01658536.pd

Single-cell transcriptomes from human kidneys reveal the cellular identity of renal tumors.

Messenger RNA encodes cellular function and phenotype. In the context of human cancer, it defines the identities of malignant cells and the diversity of tumor tissue. We studied 72,501 single-cell transcriptomes of human renal tumors and normal tissue from fetal, pediatric, and adult kidneys. We matched childhood Wilms tumor with specific fetal cell types, thus providing evidence for the hypothesis that Wilms tumor cells are aberrant fetal cells. In adult renal cell carcinoma, we identified a canonical cancer transcriptome that matched a little-known subtype of proximal convoluted tubular cell. Analyses of the tumor composition defined cancer-associated normal cells and delineated a complex vascular endothelial growth factor (VEGF) signaling circuit. Our findings reveal the precise cellular identities and compositions of human kidney tumors