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Gestational Trophoblastic Diseases

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Practical Gynecologic Pathology

Part of the book series: Practical Anatomic Pathology ((PAP))

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Abstract

Gestational trophoblastic disease (GTD) includes hydatidiform moles, reactive trophoblastic proliferations, and gestational trophoblastic neoplasms. While morphological evaluation continues to be the first step and mainstay of pathology diagnosis, the diagnostic workup of molar gestations—complete and partial hydatidiform moles—have incorporated new ancillary tools in recent years, leading to the development of improved diagnostic algorithms. Further, new immunohistochemical markers and molecular techniques have significantly enhanced the diagnosis of gestational trophoblastic neoplasms, which continue to pose a diagnostic challenge due to their rarity and unusual clinical presentations. This chapter aims to provide answers to the most frequent questions related to diagnostic workup of hydatidiform moles, including the indications and potential pitfalls of p57 immunohistochemistry and molecular genotyping. The morphological and immunophenotypical characteristics of gestational trophoblastic neoplasms are also discussed, along with their differential diagnoses and potential prognostic and therapeutic implications.

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Abbreviations

EPS:

Exaggerated placental site

ETT:

Epithelioid trophoblastic tumor

FIGO:

International Federation of Gynaecology and Obstetrics

GPC3:

Glypican 3

GTD:

Gestational trophoblastic disease

GTN:

Gestational trophoblastic neoplasia

hCG:

Human chorionic gonadotropin

hPL:

Human placental lactogen

PSN:

Placental site nodule

PSTT:

Placental site trophoblastic tumor

STR:

Short tandem repeats

WHO:

World Health Organization

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  1. Department of Pathology, Yale School of Medicine, New Haven, CT, USA

    Natalia Buza & Pei Hui

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    Jian-Jun Wei

  2. Department of Pathology, Yale School of Medicine, New Haven, CT, USA

    Pei Hui

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Buza, N., Hui, P. (2021). Gestational Trophoblastic Diseases. In: Wei, JJ., Hui, P. (eds) Practical Gynecologic Pathology. Practical Anatomic Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-68608-6_7

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