Abstract Ependymoma (EPN) posterior fossa group A (PFA) has the highest rate of recurrence and worst prognosis all EPN types. At relapse, it is typically incurable even with re-resection re-irradiation. The biology recurrent PFA remains largely unknown, which hinders clinical advances. In this longitudinal large multicenter study, we examined matched samples primary disease from patients (n=95)...

Relatively frequent losses of heterozygosity on chromosomes 5q, 6q, and lOq, in addition to loss of heterozygosity on the short arm of chromosome 3, have been observed in renal cell carcinomas. As the first step toward isolation of tumor suppressor genes on these three chromo somal arms, we used six restriction fragment length polymorphism markers for 5q, nine for 6q, and eight for lOq to ident...

Cryptic deletions at chromosome 6q are common cytogenetic abnormalities in T-cell lymphoblastic leukemia/lymphoma (T-LBL), but the target genes have not been formally identified. Our results build on detection of specific chromosomal losses in a mouse model of γ-radiation-induced T-LBLs and provide interesting clues for new putative susceptibility genes in a region orthologous to human 6q15-6q1...

A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenot...

The diagnosis of splenic marginal zone lymphoma (SMZL) is frequently a challenge, due to its lack of specific histological features and immunophenotypic markers, and the existence of other poorly characterized splenic lymphomas defying classification. Moreover, the clinical outcome of SMZL is variable, with 30% of cases pursuing an aggressive clinical course, the prediction of which remains pro...

Recent insights into the role of the von-Hippel Lindau (VHL) tumor suppressor gene in hereditary and sporadic clear-cell renal cell carcinoma (ccRCC) have led to new treatments for patients with metastatic ccRCC, although virtually all patients eventually succumb to the disease. We performed an integrated, genome-wide analysis of copy-number changes and gene expression profiles in 90 tumors, in...

Secondary chromosomal aberrations were surveyed in non-Hodgkin's lymphomas (NHL) reported in the literature with one of the following, presently recognized, primary abnormalities: t(2;5), +3, t(3;14), del(6q), +X, and -Y. Of 2,175 NHLs with clonal karyotypic changes, 908 (42%) had one of the 13 selected primary chromosome rearrangements, and 670 (74%) of these lymphomas displayed additional abn...

PURPOSE To identify genomic targets for ciliochoroidal melanoma diagnosis, prognosis, and therapy. METHODS Fifty-eight ciliochoroidal melanomas were analyzed by high-resolution, genome-wide, single nucleotide polymorphism (SNP) mapping arrays. The 58 SNP arrays were compared to 48 HapMap normals representing both sexes and assessed with a systematic statistical method, Genomic Identification ...

We have devised methods facilitating the establishment of continuous cultures of T-cell blasts from patients with acute lymphoblastic leukemia of T-cell type at diagnosis. The cultured cells closely resemble those of the patients at the time of diagnosis with respect to surface markers, karyotype, and T-cell receptor gene rearrangements. Cultured T-cell acute lymphoblastic leukemia (diagnosis) ...