Genetics of Hydatidiform Moles

In this presentation, Dr. Pantrangi will discuss the importance of the distinction between hydatidiform moles (a.k.a. molar pregnancy) and nonmolar conceptions, their accurate diagnosis, precise assessment of the risk of persistent gestational trophoblastic disease, including choriocarcinoma associated with different subtypes of hydatidiform moles, and the appropriate guidance of clinical management. Dr. Pantrangi will elaborate on the genetic origins of hydatidiform moles and nonmolar pregnancies and diagnostic techniques. Also, a few cases will be discussed to demonstrate the potential pitfalls encountered with the use of a single technique or solely based on morphology, which can lead to misinterpretation of the results. For instance, donor egg conceptions and lack of clinical history led to the misinterpretation as complete hydatidiform mole (CHM) based on short tandem repeat genotyping data alone. Dr. Pantrangi will illustrate how the integration of ancillary techniques, particularly p57 immunohistochemistry and DNA genotyping, would help in providing refined diagnosis. She will also briefly talk about genomic imprinting role on the malignant potential of hydatidiform moles.

Originally published on July 2, 2024

Lecture Presenter

Madhu Pantrangi, PhD, FACMG, DABMGG Assistant Professor of Pathology and Laboratory Medicine, Associate Director of Cytogenetics Laboratory Weill Cornell Medicine

Dr. Pantrangi is an assistant professor of clinical pathology and laboratory medicine and associate director of the cytogenetics laboratory at Weill Cornell Medicine. She is board certified in both molecular and cytogenetics. Dr. Pantrangi has approximately 12 years of experience in diagnostic genetic testing in the CAP/CLIA clinical laboratory setting. She completed an ABMGG/ACGME Laboratory Genetics and Genomics (LGG) fellowship from the Columbia University Irving Medical Center and New York-Presbyterian. Before her LGG fellowship she served as a human molecular geneticist for approximately nine years at PreventionGenetics (a division of Exact Sciences), and she was the lead geneticist responsible for all the inherited ocular disorders. Dr. Pantrangi received her doctoral degree in genetics from the University of Delhi, India. She then pivoted to microbial genetics during a postdoctoral research fellowship at the Marshfield Clinic Research Foundation in Marshfield, Wisconsin.

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Objectives

After this presentation, participants will be able to:

• Recognize the importance of distinguishing different types hydatidiform moles for the appropriate guidance of clinical management
• Identify the different types hydatidiform moles and their genetic origin
• Describe hydatidiform moles subtypes and their associated risk for gestational trophoblastic disease and choriocarcinoma
• Discuss the importance of integrating ancillary techniques to provide refined diagnosis

Sponsored by:

University of Utah School of Medicine, Department of Pathology, and ARUP Laboratories