Hera Jung1,2, Go Eun Bae3, Hye Min Kim4, Hyun-Soo Kim5. 1. Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. 2. Department of Pathology, CHA Ilsan Women's and Children's General Hospital, CHA University, Goyang, Republic of Korea. 3. Department of Pathology, Chungnam National University Hospital, Chungnam National University School of Medicine, Daejeon, Republic of Korea. 4. Department of Pathology, Yonsei University College of Medicine, Seoul, Republic of Korea hyun-soo.kim@samsung.com pinkmin15@yuhs.ac. 5. Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea hyun-soo.kim@samsung.com pinkmin15@yuhs.ac.
Abstract
BACKGROUND/AIM: We investigated differences in the clinicopathological and molecular characteristics between gastric-type mucinous carcinoma (GMC) and usual-type endocervical adenocarcinoma (UEA). PATIENTS AND METHODS: We collected the clinicopathological information and performed targeted genomic sequencing analysis. RESULTS: GMCs exhibited significantly deeper invasion depth, larger horizontal spread, more advanced stage, more frequent distant metastasis, and more frequent parametrial and vaginal extension. Disease-free survival time of GMC patients was significantly shorter than that of UEA patients. GMCs displayed mutant p53 immunostaining pattern, whereas UEAs exhibited p16 block positivity. GMCs harbored mutations in KRAS, TP53, NF1, CDKN2A, STK11, and ARID1A. One GMC exhibited MDM2 amplification. In contrast, UEAs harbored mutations in HRAS, PIK3CA, and BRCA2. Two UEAs were found to have novel TP53 mutations. CONCLUSION: GMC is associated with more aggressive behavior than UEA. Distinctive p53 and p16 immunostaining patterns enable differential diagnosis. GMC and UEA exhibit genetic heterogeneity with potentially actionable molecular alterations. Copyright
BACKGROUND/AIM: We investigated differences in the clinicopathological and molecular characteristics between gastric-type mucinous carcinoma (GMC) and usual-type endocervical adenocarcinoma (UEA). PATIENTS AND METHODS: We collected the clinicopathological information and performed targeted genomic sequencing analysis. RESULTS: GMCs exhibited significantly deeper invasion depth, larger horizontal spread, more advanced stage, more frequent distant metastasis, and more frequent parametrial and vaginal extension. Disease-free survival time of GMC patients was significantly shorter than that of UEA patients. GMCs displayed mutant p53 immunostaining pattern, whereas UEAs exhibited p16 block positivity. GMCs harbored mutations in KRAS, TP53, NF1, CDKN2A, STK11, and ARID1A. One GMC exhibited MDM2 amplification. In contrast, UEAs harbored mutations in HRAS, PIK3CA, and BRCA2. Two UEAs were found to have novel TP53 mutations. CONCLUSION: GMC is associated with more aggressive behavior than UEA. Distinctive p53 and p16 immunostaining patterns enable differential diagnosis. GMC and UEA exhibit genetic heterogeneity with potentially actionable molecular alterations. Copyright
Authors: Swati Garg; Teddy S Nagaria; Blaise Clarke; Orit Freedman; Zanobia Khan; Joerg Schwock; Marcus Q Bernardini; Amit M Oza; Kathy Han; Adam C Smith; Tracy L Stockley; Marjan Rouzbahman Journal: Mod Pathol Date: 2019-07-15 Impact factor: 7.842