Appendiceal carcinoma complicating adenomatous polyposis in a young woman with a de novo constitutional reciprocal translocation t(5;8)(q22;p23.1)

摘要: Editor—Familial adenomatous polyposis (FAP) is an autosomal dominant condition characterised by the presence of more than 100 polyps in colon and rectum. Polyps generally first appear second or third decade life are usually most numerous distally. Left untreated, colorectal cancer virtually inevitable arises fourth fifth decade.1 Adenocarcinoma appendix uncommon neoplasm has only rarely been reported association with FAP.2 The gene responsible for FAP, APC , was initially localised to long arm chromosome five (5q) linkage.3 4 This followed a case report describing carcinomas rectum ascending colon, polyposis, mental retardation, various dysmorphic features 42 year old man constitutional deletion 5q.5 Most patients FAP have normal karyotypes.6 Mental retardation unusual such people but characterise those rare cytogenetically visible 5q deletions FAP.5-12 The few reports detailing clinical findings submicroscopic suggest that may be mentally normal.13 14 In this we describe patient apparently balanced translocation t(5;8)(q22;p23.1) causing MCC . Clinical data were obtained review medical records. In addition, interviewed examined two authors (JF AS) before her death. Cytogenetic studies performed using standard techniques on 72 hour peripheral blood culture GTG banding, as previously reported.6 Slides fluorescence situ hybridisation (FISH) cell suspension retained after routine cytogenetic harvest. RNAse treatment, probe chromosomal denaturation, conditions described15 …