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1/2. Rectal adenocarcinoma with choriocarcinomatous differentiation: clinical and genetic aspects.

    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.
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2/2. Pure non-gestational choriocarcinoma of the ovary diagnosed by dna polymorphism analysis.

    Pure primary ovarian choriocarcinoma is a rare condition that can be of gestational or non-gestational origin. Non-gestational choriocarcinoma has been found to be resistant to single-agent chemotherapy and has a worse prognosis than gestational choriocarcinoma, but it is difficult to distinguish the two types by routine histological examination. Herein is reported a case of primary pure non-gestational choriocarcinoma of the ovary in a 33-year-old nulligravid woman, as confirmed by dna polymorphism analysis. All tested microsatellite markers had identical dna profiles with the same allelic sizes between the tumor and the myometrium of the patient, who was homozygous for three markers (BAT26, BAT25 and D17S250) and heterozygous for four (D2S123, D18S57, DCC and D18S58), supporting non-gestational origin. The patient has no evidence of disease 17 months after surgery and four cycles of combination chemotherapy. This case demonstrates the usefulness of dna polymorphism analysis for the determination of the origin of extrauterine choriocarcinoma. Clinical relevance of this method needs to be further studied and substantiated.
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