Genetic and epigenetic survey of a composite and pure rhabdoid tumor. (A). Genetic, cytogenetic and epigenetic analysis of the pure RCT (case I) and composite (case II) RTC. Tumor tissue of case II is characterized by a glandular (GC) and rhabdoid (RC) component whose molecular alterations are compared to the adjacent tubular adenomas (TA), the cancerized and larger tubular adenoma (CTA) or normal mucosa (NM2). Case I, a pure RCT, is compared to the adjacent distant non-neoplastic mucosa (NM1). Six CIMP loci MLH1, CDKN2A, IGF2, SOX2, NEUROG1, RUNX3 are reported. (B) Representative sequencing analysis of MYH using DNA isolated from the rhabdoid tumor tissue shows no mutations at codons 165, 382 and 391, respectively. Note: Break-apart FISH assay was used to analyze 22q12 (EWS) rearrangement as reported in Ref 2. Abbreviations: Nd: Not determined; Nr: Normal or intact locus; Re: Rearranged locus; CIMP: CpG island methylator phenotype; MSI:microsatellite instability.
Pancione et al. Diagnostic Pathology 2013 8:31 doi:10.1186/1746-1596-8-31