Gestational trophoblastic disease

Last revised by Dr Jeremy Jones on 20 Sep 2021

Gestational trophoblastic disease (GTD) results from the abnormal proliferation of trophoblastic tissue and encompasses a wide spectrum of diseases, including:

Women older than 40 years and younger than 20 years may be at higher risk.

The presentation is variable:

A common characteristic of all gestational trophoblastic disease is an abnormal proliferation of trophoblast, but different components predominate in different tumors.

  • hydatidiform mole
    • complete hydatidiform mole (CHM)
      • commonest (up to 80%) manifestation of GTD
      • 46XX or 46XY: paternal chromosomes only
      • no fetus
      • β-hCG markedly elevated
      • atypia of cells present
      • treatment involves
        • curettage +/- hysterectomy in older women 11
        • follow-up urinary β-hCG for 6-12 months
      • may progress to
    • partial hydatidiform mole (PHM)
      • 69XXX or 69XXY (paternal and maternal chromosomes)
      • may have a fetus or fetal components
      • β-hCG moderately elevated
      • no cellular atypia
  • invasive mole
    • distorts uterine zonal structures
    • boundaries between a tumor and myometrium are irregular and indistinct 3
    • may also invade parametrial tissue and blood vessels 4
  • gestational choriocarcinoma
    • may look identical to hydatidiform mole
    • arises following known molar pregnancy (50%), miscarriage (30%), normal pregnancy (20%)
    • can appear to have less vascularity than an invasive mole
    • higher β-hCG levels even than a complete mole
    • solid component with the visualized invasion
    • tends to invade myometrium through venous plexuses
      • patients often can present with multiple metastases without an easily identified primary, as it can often be small in an otherwise normal placenta
    • metastases can occur in
      • lungs: ~80%
      • vagina: ~30%
      • pelvis: 20% 
      • liver and brain: ~10% 12,13
  • placental site trophoblastic tumor (PSTT)
    • rare form
    • produces small amounts of β-hCG
  • epithelioid trophoblastic tumor (ETT) 9
    • extremely rare form

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Cases and figures

  • Case 1: invasive mole
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  • Case 2: invasive mole with bilateral theca lutein cysts
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  • Case 3: choriocarcinoma
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  • Case 4: complete mole on ultrasound
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  • Case 5: complete mole on CT
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  • Case 6: coexistent complete mole and fetus
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  • Case 7: partial hydatidiform mole
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