Gestational trophoblastic disease

Last revised by Wedyan Yousef Alrasheed on 4 Feb 2023

Gestational trophoblastic disease (GTD) results from the abnormal proliferation of trophoblastic tissue and encompasses a wide spectrum of diseases, including 14:

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.

Molar pregnancies:

  • 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
  • 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
  • invasive and metastatic hydatidiform moles
    • 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 trophoblastic neoplasms (GTN)​:

  • placental site trophoblastic tumor (PSTT)
    • rare form
    • produces small amounts of β-hCG
    • raise human placental lactogen (hPL) levels
  • epithelioid trophoblastic tumor (ETT) 9
    • extremely rare form
  • 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
  • mixed trophoblastic tumor

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