Adenocarcinoma arising in a rectal duplication cyst with distant metastasis A case report and a review of the recent literature.

INTRODUCTION: Rectal duplication cysts are rare cystic lesions, arising from the hindgut and classified as congenital/developmental tumors of the presacral space. Their clinical presentation is nonspecific, the diagnosis remains difficult and their management is aided by a multidisciplinary evaluation. CASE REPORT: We report the case of a 55-year-old woman with a cystic mass located in the retrorectal space and identified incidentally on a CT scan. Following imaging studies, surgical resection by a posterior approach (Kraske procedure) was carried out and an adenocarcinoma arising in a duplication cyst of the rectum was present an uncommon case of a rectal duplication cyst with malignant transformation and distant metastasis, describe the clinical, radiologic and pathologic findings and discuss tidentified by microscopy. CONCLUSION: We phe embryological basis of rectal duplication cysts and the surgical anatomy of the presacral space. Key Words: Rectal adenocarcinoma, rectal duplication cyst, Retrorectal space.

Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.

Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the fibrillin-1 gene (FBN1), although there are some reports on deletions involving FBN1 and other additional genes. We report a male patient who was first evaluated at 4 years of age. Echocardiogram showed a mildly dilated aortic sinus. He also had a history of muscular ventral septal defect which was closed spontaneously and trivial mitral regurgitation. Other phenotypic features include frontal bossing, anteverted ears, joint hyperlaxity, learning disability, skin striae, and height and weight in the >97th centile but no other diagnostic findings of MFS and does not fulfill the revised Ghent criteria. Chromosomal microarray analysis showed a deletion of approximately 36.8 kb at 15q21.1, which starts in intron 6 and ends in intron 9 and includes three FBN1 exons. Sequence analysis of the breakpoint region confirmed the deletion and revealed a concomitant insertion of a retrotransposon within the intron 6/intron 9 region. The intragenic deletion of exons 7-9 was likely the result of a retrotransposition event by a MAST2-SVA element mediated by repetitive sequences.