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Pathology and Genomics in Gestational Trophoblastic Neoplasia

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Precision Medicine in Gynecology and Obstetrics

Abstract

Gestational trophoblastic diseases (GTDs) originate from placental tissue and are rare tumors with a current cure rate of greater than 90% with the right diagnosis and clinical management. GTDs are generally divided into two categories: (1) hydatidiform moles, presenting abnormal villous proliferation with chromosomal aberrations, and (2) rare gestational trophoblastic neoplasms (GTNs) including choriocarcinoma, placental site trophoblastic tumor, and epithelioid trophoblastic tumor. Persistent gestational trophoblastic disease/tumor most commonly occurs following molar pregnancy; however, it may follow any GTD.

Hydatidiform mole was previously diagnosed in the second trimester; however, it is now diagnosed in first trimester specimens, based on the availability of accurate and sensitive tests for the detection of hCG and on the use of early ultrasonographic examination. Often, a diagnosis is made before classical clinical signs and symptom develop. In daily practice, histological diagnosis of GTD continues to have some degree of diagnostic misclassification with a fairly high degree of inter- and intraobserver variability. Studies evaluating the concomitant use of histology with p57KIP2 immunohistochemistry, and/or genotyping, have further refined diagnoses of hydatidiform mole. Beyond hydatidiform mole, the even rarer tumors of the GTN family require broad knowledge of the clinical and histological features, as well as the application of immunohistochemical markers directed toward the various types of trophoblast, to arrive at the correct diagnosis.

This chapter focuses on recent advances in the pathogenesis; pathological diagnostic features, including immunohistochemistry; and genetic findings, of GTD, along with a review of the clinical management.

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Correspondence to Sachiko Minamiguchi M.D., Ph.D. .

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Minamiguchi, S., Lage, J.M. (2017). Pathology and Genomics in Gestational Trophoblastic Neoplasia. In: Konishi, I. (eds) Precision Medicine in Gynecology and Obstetrics. Comprehensive Gynecology and Obstetrics. Springer, Singapore. https://doi.org/10.1007/978-981-10-2489-4_13

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  • DOI: https://doi.org/10.1007/978-981-10-2489-4_13

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  • Online ISBN: 978-981-10-2489-4

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