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KMID : 0620920200520122046
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Experimental & Molecular Medicine
2020 Volume.52 No. 12 p.2046 ~ p.2054
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Distinct genomic profiles of gestational choriocarcinoma, a unique cancer of pregnant tissues
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Jung Seung-Hyun
Choi Youn-Jin
Kim Min-Sung
Park Hyeon-Chun
Han Mi-Ryung
Hur Soo-Young
Lee Ah-Won
Shin Ok-Ran
Kim Jean-A
Lee Sung-Hak
Hong Dong-Wan
Song Sang-Yong
Chung Yeun-Jun
Lee Sug-Hyung
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Abstract
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Little is known about genomic alterations of gestational choriocarcinoma (GC), unique cancer that originates in pregnant tissues, and the progression mechanisms from the nonmalignant complete hydatidiform mole (CHM) to GC. Whole-exome sequencing (20 GCs) and/or single-nucleotide polymorphism microarray (29 GCs) were performed. We analyzed copy-neutral loss-of-heterozygosity (CN-LOH) in 29 GCs that exhibited androgenetic CN-LOHs (20 monospermic, 8 dispermic) and no CN-LOH (one with NLRP7 mutation). Most GCs (25/29) harboring recurrent copy number alterations (CNAs) and gains on 1q21.1-q44 were significantly associated with poor prognosis. We detected five driver mutations in the GCs, most of which were chromatin remodeling gene (ARID1A, SMARCD1, and EP300) mutations but not in common cancer genes such as TP53 and KRAS. One patient’s serial CHM/invasive mole/GC showed consistent CN-LOHs, but only the GC harbored CNAs, indicating that CN-LOH is an early pivotal event in HM-IM-GC development, and CNAs may be a late event that promotes CHM progression to GC. Our data indicate that GCs have unique profiles of CN-LOHs, mutations and CNAs that together differentiate GCs from non-GCs. Practically, CN-LOH and CNA profiles are useful for the molecular diagnosis of GC and the selection of GC patients with poor prognosis for more intensive treatments, respectively.
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KEYWORD
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Cancer genomics, Endometrial cancer
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