Rectal adenocarcinoma with choriocarcinomatous differentiation: clinical and genetic aspects

W Verbeek, H Joachim Schulten, Matthias Sperling, Jens Tiesmeier, Hans Stoop, Winand Dinjens, Leendert Looijenga, Bernhard Wörmann, Laszlo Füzesi, Konrad Donhuijsen

Research output: Contribution to journalArticlepeer-review

37 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1427-30
Number of pages4
JournalHuman pathology
Issue number11
Publication statusPublished - Nov 2004
Externally publishedYes


  • Adenocarcinoma/genetics
  • Antineoplastic Combined Chemotherapy Protocols/therapeutic use
  • Cell Transformation, Neoplastic
  • Choriocarcinoma, Non-gestational/genetics
  • Chromosome Aberrations
  • DNA, Neoplasm/analysis
  • Fatal Outcome
  • Female
  • Humans
  • Hysterectomy
  • In Situ Hybridization, Fluorescence
  • Middle Aged
  • Neoplasms, Multiple Primary/genetics
  • Nucleic Acid Hybridization
  • Rectal Neoplasms/genetics
  • Rectum/surgery


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