Gestational trophoblastic disease

Last revised by Yahya Baba on 22 Mar 2024

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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