Do hereditary syndrome-related gynecologic cancers have any specific features?

作者: Nelson Neto , Teresa Margarida Cunha

DOI: 10.1007/S13244-015-0425-X

关键词: GynecologyInternal medicineEndometrial cancerRelative riskInterventional radiologyOvarian cancerIn patientMedicineGenetic riskOncologyCancerColorectal cancerRadiology Nuclear Medicine and imaging

摘要: Hereditary syndromes are responsible for 10 % of gynaecologic cancers, among which hereditary breast-ovarian cancer and non-polyposis colon syndromes, known as HBOC Lynch respectively, present the highest relative risk. The latter predisposes to endometrial both contribute ovarian cancer. Cowden syndrome-related increased risk ovarian, uterine cervical cancers associated with Peutz-Jeghers syndrome, also demonstrated, while Li-Fraumeni syndrome patients prone develop cancers. Despite these syndromes’ susceptibility being consensual, it is still not clear whether tumours have any epidemiologic, clinical, pathologic or imaging specific features that could allow intervening physicians raise suspicion a in without genetic Moreover, controversy exists regarding screening surveillance schemes. Our literature review provides an updated perspective on evidence-based related each well most accepted guidelines. In addition, some illustrative cases presented. • mainly HGSC, arises fallopian fimbriae. LS-related show histological diversity predilection lower segment. LS CS-related mostly non-serous type, usually endometrioid. Ovarian SCTAT adenoma malignum strongly PJS. Unfortunately, do seem distinctive features.

参考文章(69)
Adam C. ElNaggar, Sheri L. Spunt, William Smith, Morgan Depas, Joseph T. Santoso, Endometrial cancer in a 15-year-old girl: A complication of Cowden Syndrome Gynecologic Oncology Case Reports. ,vol. 3, pp. 18- 19 ,(2013) , 10.1016/J.GYNOR.2012.10.006
Wa Xian, Alexander Miron, Michael Roh, Dana R Semmel, Yosuf Yassin, Judy Garber, Esther Oliva, Annekathryn Goodman, Karishma Mehra, Ross S Berkowitz, Christopher P Crum, Bradley J Quade, The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube. The Journal of Pathology. ,vol. 220, pp. 17- 23 ,(2010) , 10.1002/PATH.2624
Markku Aarnio, Risto Sankila, Eero Pukkala, Reijo Salovaara, Lauri A. Aaltonen, Albert de la Chapelle, P�ivi Peltom�ki, Jukka-Pekka Mecklin, Heikki J. J�rvinen, Cancer risk in mutation carriers of DNA-mismatch-repair genes. International Journal of Cancer. ,vol. 81, pp. 214- 218 ,(1999) , 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L
Jaime Prat, Adriana Ribé, Alberto Gallardo, Hereditary ovarian cancer. Human Pathology. ,vol. 36, pp. 861- 870 ,(2005) , 10.1016/J.HUMPATH.2005.06.006
P. J. Goodfellow, B. M. Buttin, T. J. Herzog, J. S. Rader, R. K. Gibb, E. Swisher, K. Look, K. C. Walls, M.-Y. Fan, D. G. Mutch, Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected series of endometrial cancers Proceedings of the National Academy of Sciences of the United States of America. ,vol. 100, pp. 5908- 5913 ,(2003) , 10.1073/PNAS.1030231100
Mary J. Seller, J. Russell, G. S. Tint, Unusual case of Smith-Lemli-Opitz syndrome “type II” American Journal of Medical Genetics. ,vol. 56, pp. 265- 268 ,(1995) , 10.1002/AJMG.1320560305
K. DOMANSKA, S. MALANDER, A. MÅSBÄCK, M. NILBERT, Ovarian cancer at young age: the contribution of mismatch-repair defects in a population-based series of epithelial ovarian cancer before age 40. International Journal of Gynecological Cancer. ,vol. 17, pp. 789- 793 ,(2007) , 10.1111/J.1525-1438.2007.00875.X
Jinru Shia, Destin Black, Amanda J. Hummer, Jeff Boyd, Robert A. Soslow, Routinely assessed morphological features correlate with microsatellite instability status in endometrial cancer Human Pathology. ,vol. 39, pp. 116- 125 ,(2008) , 10.1016/J.HUMPATH.2007.05.022
F Quehenberger, HFA Vasen, HC Van Houwelingen, Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment Journal of Medical Genetics. ,vol. 42, pp. 491- 496 ,(2005) , 10.1136/JMG.2004.024299
Denise C. Connolly, Hidetaka Katabuchi, William A. Cliby, Kathleen R. Cho, Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndrome. American Journal of Pathology. ,vol. 156, pp. 339- 345 ,(2000) , 10.1016/S0002-9440(10)64735-9