Anaplastic large T-cell lymphoma (ALCL) is frequently associated with the t(2;5)(p23;q35). Here, we report a case of ALCL with an atypical translocation of t(2;5)(p24;q13) and other complex translocations. This complex abnormal karyotype may result in chemotherapy resistance and a poor outcome. Interestingly, a hypophyseal tumor was detected simultaneously by magnetic resonance imaging in this ...

Virtually all cases of mantle cell lymphoma (MCL) carry the t(11;14)(q13;q32) translocation, leading to the juxtaposition of the CCND1/CYCLIND1 gene to the immunoglobulin heavy chain (IGH) joining region, resulting in cyclin D1 mRNA and protein overexpression.1-3 The existence of “true” MCL negative for cyclin D1 has been controversial but was recently substantiated by gene expression profiling...

Virtually all cases of mantle cell lymphoma (MCL) carry the t(11;14)(q13;q32) translocation, leading to the juxtaposition of the CCND1/CYCLIND1 gene to the immunoglobulin heavy chain (IGH) joining region, resulting in cyclin D1 mRNA and protein overexpression.1-3 The existence of “true” MCL negative for cyclin D1 has been controversial but was recently substantiated by gene expression profiling...

DNA amplification at chromosomal region 20q12-q13, which is common in breast cancer, has recently been described also in ovarian tumors. We studied the amplification of the recently identified candidate oncogenes in this region in 24 sporadic, 3 familial and 4 hereditary ovarian carcinomas, and in 8 ovarian cancer cell lines. High-level amplification of at least one of the five nonsyntenic regi...

Three strains of Escherichia coli with altered polynucleotide phosphorylase, Q7, Q13, and Q27, were isolated by screening clones from heavily mutagenized cultures for low levels of the enzyme. The three mutations were found to cotransduce with argG and asp, and the pnp locus which they define was mapped with respect to these loci. An explanation for the nonreciprocal cotransduction frequencies ...

We report on a 4 year old patient with a unique paternally inherited single-exon GABRB3 gene deletion and clinical findings of severe speech delay, intellectual disability, autistic features, unusual behavior, tremor, and history of seizures and gait abnormalities. Similarities and significant differences with other cases involving rearrangements of 15q11-q13 are discussed. Further on, we provi...

Gliosarcoma, a rare glioblastoma variant, is composed of a glial and a mesenchymal component. Though the mesenchymal portion most commonly resembles a fibrosarcoma, other differentiation patterns have been observed. We present the first genomic characterisation (karyotyping followed by FISH and array comparative genomic hybridisation analysis) of a gliosarcoma with osseous metaplasia. In additi...