title: SMARCB1/INI1 missense mutation in mucinous carcinoma with rhabdoid features.
abstract: Malignant rhabdoid tumor (MRT) is a rare and aggressive tumor associated with deletion or mutation of a tumor suppressor gene SMARCB1/INI1, a member of the SWI/SNF chromatin-remodeling complex. Reported herein is a case of pancreatic mucinous carcinoma accompanying rhabdoid features with immunohistochemical and ultrastructural studies as well as analysis of the SMARCB1/INI1 gene. A 65-year-old woman presented with a 2 month history of abdominal and chest pain. A well-defined grayish tan fish-flesh mass (11 x 9 x 7 cm) with focal mucinous area was present in the pancreatic tail. Microscopically, the tumor had a biphasic growth pattern: a mucinous carcinoma component and a poorly differentiated carcinoma component with rhabdoid features showing loosely cohesive cells with abundant eosinophilic cytoplasm, displaced nuclei, and prominent nucleoli. The rhabdoid component coexpressed vimentin and cytokeratin. Sequencing analysis of the DNA extracted from the mucinous and rhabdoid components showed a missense mutation CCC to ACC in codon 116 of the SMARCB1/INI1 gene. Being aware of rhabdoid features would help diagnose this rare and aggressive malignant tumor and may provide an opportunity for further evaluation of SMARCB1/INI1 gene alteration and determination of its prognostic significance.
authors.affiliation: Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. yongcho@amc.seoul.kr
authors.forename: Yong Mee
authors.initials: YM
authors.lastname: Cho
authors.forename: Jene
authors.initials: J
authors.lastname: Choi
authors.forename: Ok-Jun
authors.initials: OJ
authors.lastname: Lee
authors.forename: Hyang-Im
authors.initials: HI
authors.lastname: Lee
authors.forename: Duck Jong
authors.initials: DJ
authors.lastname: Han
authors.forename: Jae Y
authors.initials: JY
authors.lastname: Ro
mesh_terms: D002288:Adenocarcinoma, Mucinous / Q000235:genetics* / Q000556:secondary / Q000628:therapy; D000368:Aged; D014408:Biomarkers, Tumor / Q000378:metabolism; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007633:Keratins / Q000378:metabolism; D020125:Mutation, Missense; D009362:Neoplasm Metastasis; D010180:Pancreatectomy; D010190:Pancreatic Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018714:Radiotherapy, Adjuvant; D018335:Rhabdoid Tumor / Q000235:genetics* / Q000556:secondary / Q000628:therapy; D000071796:SMARCB1 Protein; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*; D014746:Vimentin / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors; D014746:Vimentin; D007633:Keratins