title: Rectal adenocarcinoma with choriocarcinomatous differentiation: clinical and genetic aspects.
abstract: Nongestational choriocarcinomas are rare tumors. In the gastrointestinal tract, they are characterized by a biphasic tumor growth with separated areas of adenocarcinomatous and choriocarcinomatous differentiation. We here report a case of a combined adenocarcinoma-choriocarcinoma of the rectum. The tumor showed an aggressive clinical behavior with metastasis to the liver and lungs. A transient partial remission was achieved after 4 cycles of cisplatinum, etoposide, and ifosfamide chemotherapy, with normalization of serum beta-human chorionic gonadotropin levels. At this time, viable residual choriocarcinoma cells were found in surgically resected lung metastasis. The patient succumbed 8 months after initial diagnosis to a rapid abdominal relapse. We used comparative genomic hybridization (CGH) and fluorescence in situ hybridization to elucidate the genetic relationship of adenocarcinoma and choriocarcinoma in this neoplasm. We found genetic changes characteristic for colorectal adenocarcinomas, a loss of chromosomal regions 8p21-pter as well as 18q21-pter, and a gain of 5p and 20q, in both tumor parts. This provides evidence for the common origin of both components. A differential pattern of additional genetic changes suggests a clonal evolution from a common ancestor cell. In contrast to findings from a comparative study on a choriocarcinoma of the renal pelvis, we did not find an amplification of the germ cell cancer-associated chromosomal region 12p11.2-p12.1 in the areas of choriocarcinoma but found instead a loss of Xp11.3-pter. To our knowledge, this is the first report of a CGH comparison of the adenocarcinomatous and choriocarcinomatous tumor parts in a nongestational choriocarcinoma of the gastrointestinal tract.
authors.affiliation: Department of Internal Medicine III, Klinikum Braunschweig, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Verbeek
authors.forename: H Joachim
authors.initials: HJ
authors.lastname: Schulten
authors.forename: Matthias
authors.initials: M
authors.lastname: Sperling
authors.forename: Jens
authors.initials: J
authors.lastname: Tiesmeier
authors.forename: Hans
authors.initials: H
authors.lastname: Stoop
authors.forename: Winand
authors.initials: W
authors.lastname: Dinjens
authors.forename: Leendert
authors.initials: L
authors.lastname: Looijenga
authors.forename: Bernhard
authors.initials: B
authors.lastname: Wörmann
authors.forename: Laszlo
authors.initials: L
authors.lastname: Füzesi
authors.forename: Konrad
authors.initials: K
authors.lastname: Donhuijsen
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics / Q000556:secondary* / Q000628:therapy; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002471:Cell Transformation, Neoplastic; D031954:Choriocarcinoma, Non-gestational / Q000235:genetics / Q000556:secondary* / Q000628:therapy; D002869:Chromosome Aberrations; D004273:DNA, Neoplasm / Q000032:analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007044:Hysterectomy; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology*; D009693:Nucleic Acid Hybridization; D012004:Rectal Neoplasms / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D012007:Rectum / Q000601:surgery
chemical_list: D004273:DNA, Neoplasm