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Extragestational βHCG secretion due to an isolated lung epithelioid trophoblastic tumor: microsatellite genotyping of tumoral cells confirmed their placental origin and oriented specific chemotherapy.

AbstractCONTEXT:
Persistent secretion of β-human chorionic gonadotropin (βHCG) in the absence of an ongoing or recent pregnancy and without persistent uterine gestational disease is a rare but challenging situation that requires locating the extrauterine secreting tumor and distinguishing between extragestational choriocarcinoma and gestational trophoblastic neoplasms.
CASE PRESENTATION:
An unexplained, persistent extragestational βHCG secretion occurring in a 29-year-old, nonsmoking woman with abnormal uterine bleeding 4 years after a normal pregnancy and without persistent gestational disease led to the discovery by whole-body computed tomography/positron emission tomography of an isolated pulmonary tumor.
OBJECTIVE:
Characterization of paternal alleles in tumoral cells in order to establish their fetal origin, which may be helpful for the diagnosis and treatment of such tumors.
METHODS AND RESULTS:
After the surgical procedure, clinical, histological, and immunocytochemical analysis ruled out primary or metastatic bronchopulmonary carcinoma or choriocarcinoma and supported the diagnosis of an isolated, primary, epithelioid trophoblastic tumor. Microsatellite genotyping of tumoral cells identifying paternal alleles confirmed their placental origin and their migration to the lungs, with likely secondary malignant transformation, and guided the choice of postsurgical chemotherapy needed to completely eradicate βHCG secretion.
CONCLUSION:
Persistent extragestational secretion of βHCG in a young nonsmoking woman with a precedent pregnancy and an isolated lung tumor suggests the diagnosis of epithelioid trophoblastic tumor, a very rare malignant tumor for which placental origin needs to be confirmed, especially when occurring several years after the patient's last pregnancy. Simple microsatellite genotyping of tumoral cells will allow this confirmation of diagnosis and help in personalizing chemotherapy.
AuthorsPatrick Fénichel, Cécile Rouzier, Catherine Butori, Patrick Chevallier, Anne-Gaelle Poullot, Antoine Thyss, Jérôme Mouroux
JournalThe Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab) Vol. 99 Issue 10 Pg. 3515-20 (Oct 2014) ISSN: 1945-7197 [Electronic] United States
PMID25029419 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Chorionic Gonadotropin, beta Subunit, Human
Topics
  • Adult
  • Antineoplastic Combined Chemotherapy Protocols (therapeutic use)
  • Chorionic Gonadotropin, beta Subunit, Human (blood, metabolism)
  • Diagnosis, Differential
  • Epithelioid Cells (metabolism, pathology)
  • Female
  • Genetic Testing
  • Humans
  • Lung Neoplasms (drug therapy, genetics, secondary)
  • Microsatellite Repeats
  • Pregnancy
  • Trophoblastic Tumor, Placental Site (drug therapy, genetics, secondary)
  • Trophoblasts (metabolism, pathology)

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