原创力文档right-sided rhabdoid colorectal tumors might berelated to the serrated pathway右侧杆状的结直肠肿瘤可能是否与锯齿状的通路.pdfVIP
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right-sided rhabdoid colorectal tumors might berelated to the serrated pathway右侧杆状的结直肠肿瘤可能是否与锯齿状的通路
Pancione et al. Diagnostic Pathology 2013, 8:31
/content/8/1/31
SHORT REPORT Open Access
Right-sided rhabdoid colorectal tumors might be
related to the Serrated Pathway
1† 2† 1 2 1 1
Massimo Pancione , Andrea Remo , Lina Sabatino , Caterina Zanella , Carolina Votino , Alessandra Fucci ,
3 3 3 4 5 4
Arturo Di Blasi , Giovanni Lepore , Bruno Daniele , Francesca Fenizia , Enrico Molinari , Nicola Normanno ,
Erminia Manfrin6, Roberto Vendraminelli2 and Vittorio Colantuoni1*
Abstract
Background: Rhabdoid colorectal tumor (RCT) is a rare, highly aggressive neoplasm recurrent in elderly patients,
commonly at the caecum. The molecular mechanisms underlying RCT pathogenesis remain poorly elucidated. The
differential diagnosis is with the malignant rhabdoid tumors of infancy characterized by genetic inactivation of
SMARCB1 (INI1) or deletions of chromosome 22q12 locus.
Materials and methods: To shed light on RCT pathogenesis, we investigated genetic and epigenetic alterations in
two cases of pure and composite RCT and compared them with the profiles of matched adenomas and normal
mucosa. Immunohistochemical analysis, FISH, methylation specific PCR and DNA sequencing analysis were
performed on paraffin-embedded tissues.
Results: Loss of epithelial markers, (CK20, CDX2 and E-cadherin) and intense vimentin expression was observed in
RCTs but neither in the normal mucosa or adenomas. INI1 expression was detected in normal mucosa, adenomas
and retained in pure RCT, while it was undetected in composite RCT. Rearrangement of the 22q12 locus was found
only in pure RCT. The APC/β-cat
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