Misdiagnosis of High-grade Serous Ovarian Cancer With BRCA Mutation as Endometriotic Cyst Due to Its Unique Gross Morphology: A Case Report and Literature Review.
Journal
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
ISSN: 1538-7151
Titre abrégé: Int J Gynecol Pathol
Pays: United States
ID NLM: 8214845
Informations de publication
Date de publication:
01 Mar 2021
01 Mar 2021
Historique:
pubmed:
28
1
2020
medline:
31
8
2021
entrez:
28
1
2020
Statut:
ppublish
Résumé
It is believed that high-grade serous ovarian cancer (HGSOC) is a solid or multilocular-solid cancer. Here, we report the case of a 40-yr-old woman with a left ovarian unilocular cyst. Ultrasonography and computed tomographic examination confirmed that the cyst was thin-walled and homogenous in thickness without mural nodules. It was considered to be an endometriotic cyst. Left ovarian cyst excision specimens proved it to be HGSOC after pathologic examination. Therefore, the patient underwent radical surgery for HGSOC. Pathologic examination of radical resection specimens confirmed that the HGSOC was still in FIGO stage IA and no fallopian tube lesion was found. Considering that the patient had a history of breast cancer in both the breasts at a young age, it was hypothesized that the breast cancer susceptibility gene (BRCA) gene may have a germline mutation. Next-generation sequencing confirmed the BRCA1 (c.3770_3771delAG) germline mutation in this patient. Previous studies have reported the special morphological characteristics and growth pattern of HGSOC with BRCA mutation in the advanced stage. Our case demonstrates that HGSOC with the BRCA mutation can also be a unilocular cyst with a thin wall and uniform thickness without a mural nodule, and in the early stage, may have unique gross morphology.
Identifiants
pubmed: 31985581
pii: 00004347-202103000-00008
doi: 10.1097/PGP.0000000000000663
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
165-168Informations de copyright
Copyright © 2020 by the International Society of Gynecological Pathologists.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Moro F, Baima Poma C, Zannoni GF, et al. Imaging in gynecological disease (12): clinical and ultrasound features of invasive and non-invasive malignant serous ovarian tumors. Ultrasound Obstet Gynecol 2017;50:788–99.
Nougaret S, Lakhman Y, Gönen M, et al. High-grade serous ovarian cancer: associations between BRCA mutation status, CT imaging phenotypes, and clinical outcomes. Radiology 2017;285:472–81.
Matulonis UA, Sood AK, Fallowfield L, et al. Ovarian cancer. Nat Rev Dis Primers 2016;2:16061.
Exacoustos C, Zupi E, Piccione E. Ultrasound imaging for ovarian and deep infiltrating endometriosis. Semin Reprod Med 2017;35:5–24.
Ma FH, Qiang JW, Zhang GF, et al. Magnetic resonance imaging for distinguishing ovarian clear cell carcinoma from high-grade serous carcinoma. J Ovarian Res 2016;9:40.
Howitt BE, Hanamornroongruang S, Lin DI, et al. Evidence for a dualistic model of high-grade serous carcinoma: BRCA mutation status, histology, and tubal intraepithelial carcinoma. Am J Surg Pathol 2015;39:287–93.
Soong TR, Kolin DL, Teschan NJ, et al. Back to the future? The fallopian tube, precursor escape and a dualistic model of high-grade serous carcinogenesis. Cancers (Basel) 2018;10:pii: E468.
Crum CP, Herfs M, Ning G, et al. Through the glass darkly: intraepithelial neoplasia, top-down differentiation, and the road to ovarian cancer. J Pathol 2013;231:402–12.
Singh N, Gilks CB, Wilkinson N, et al. The secondary Müllerian system, field effect, BRCA , and tubal fimbria: our evolving understanding of the origin of tubo-ovarian high-grade serous carcinoma and why assignment of primary site matters. Pathology 2015;47:423–31.
Lobo J, Machado B, Vieira R, et al. The challenge of diagnosing a malignancy metastatic to the ovary: clinicopathological characteristics vary and morphology can be different from that of the corresponding primary tumor. Virchows Arch 2017;470:69–80.
Espinosa I, Gallardo A, D’Angelo E, et al. Simultaneous carcinomas of the breast and ovary: utility of Pax-8, WT-1, and GATA3 for distinguishing independent primary tumors from metastases. Int J Gynecol Pathol 2015;34:257–65.
Zhong Q, Peng HL, Zhao X, et al. Effects of BRCA1- and BRCA2 -related mutations on ovarian and breast cancer survival: a meta-analysis. Clin Cancer Res 2015;21:211–20.
Metcalfe K, Lynch HT, Foulkes WD, et al. Effect of oophorectomy on survival after breast cancer in BRCA1 and BRCA2 mutation carriers. JAMA Oncol 2015;1:306–13.
Qi F, Qin WX, Zang YS. Molecular mechanism of triple-negative breast cancer-associated BRCA1 and the identification of signaling pathways. Oncol Lett 2019;17:2905–14.
Reyes MC, Arnold AG, Kauff ND, et al. Invasion patterns of metastatic high-grade serous carcinoma of ovary or fallopian tube associated with BRCA deficiency. Mod Pathol 2014;27:1405–11.
May T, Stewart JM, Bernardini MQ, et al. The prognostic value of perioperative, pre-systemic therapy CA125 levels in patients with high-grade serous ovarian cancer. Int J Gynaecol Obstet 2018;140:247–52.