摘要
导读:男性尿道缪勒氏透明细胞癌在形态和免疫组化表达上与女性生殖道相似,但临床很少观察到。 病例介绍:在这里,我们报告一例65岁的男性被诊断为缪勒氏透明细胞癌,他携带RAD54L突变。该患者经电灼诊断,最终行前列腺切除术。经过六个月的随访,没有发现复发或其他恶性肿瘤的迹象。根据我们对现有文献的分析,迄今为止似乎没有报道过伴有RAD54L突变的缪勒氏透明细胞癌。 结论:本病例增强了我们对男性尿道缪勒氏透明细胞癌分子生物学的认识,这将有助于临床医生对这种具有特定驱动突变的罕见癌症患者选择最佳治疗方案。
关键词: 缪勒氏透明细胞癌,RAD54L基因,男性尿道,新一代测序,治疗,预后。
[1]
Hogen, L.; Thomas, G.; Bernardini, M.; Bassiouny, D.; Brar, H.; Gien, L.T.; Rosen, B.; Le, L.; Vicus, D. The effect of adjuvant radiation on survival in early stage clear cell ovarian carcinoma. Gynecol. Oncol., 2016, 143(2), 258-263.
[http://dx.doi.org/10.1016/j.ygyno.2016.09.006] [PMID: 27623251]
[http://dx.doi.org/10.1016/j.ygyno.2016.09.006] [PMID: 27623251]
[2]
Chan, J.K.; Teoh, D.; Hu, J.M.; Shin, J.Y.; Osann, K.; Kapp, D.S. Do clear cell ovarian carcinomas have poorer prognosis compared to other epithelial cell types? A study of 1411 clear cell ovarian cancers. Gynecol. Oncol., 2008, 109(3), 370-376.
[http://dx.doi.org/10.1016/j.ygyno.2008.02.006] [PMID: 18395777]
[http://dx.doi.org/10.1016/j.ygyno.2008.02.006] [PMID: 18395777]
[3]
Ozols, R.F.; Bundy, B.N.; Greer, B.E.; Fowler, J.M.; Clarke-Pearson, D.; Burger, R.A.; Mannel, R.S.; DeGeest, K.; Hartenbach, E.M.; Baergen, R. Phase III trial of carboplatin and paclitaxel compared with cisplatin and paclitaxel in patients with optimally resected stage III ovarian cancer: a Gynecologic Oncology Group study. J. Clin. Oncol., 2003, 21(17), 3194-3200.
[http://dx.doi.org/10.1200/JCO.2003.02.153] [PMID: 12860964]
[http://dx.doi.org/10.1200/JCO.2003.02.153] [PMID: 12860964]
[4]
Matsuzaki, S.; Yoshino, K.; Ueda, Y.; Matsuzaki, S.; Kakuda, M.; Okazawa, A.; Egawa-Takata, T.; Kobayashi, E.; Kimura, T. Potential targets for ovarian clear cell carcinoma: A review of updates and future perspectives. Cancer Cell Int., 2015, 15(1), 117.
[http://dx.doi.org/10.1186/s12935-015-0267-0] [PMID: 26675567]
[http://dx.doi.org/10.1186/s12935-015-0267-0] [PMID: 26675567]
[5]
Ye, H.; Wang, K.; Wang, M.; Liu, R.; Song, H.; Li, N.; Lu, Q.; Zhang, W.; Du, Y.; Yang, W.; Zhong, L.; Wang, Y.; Yu, B.; Wang, H.; Kan, Q.; Zhang, H.; Wang, Y.; He, Z.; Sun, J. Bioinspired nanoplatelets for chemo-photothermal therapy of breast cancer metastasis inhibition. Biomaterials, 2019, 206, 1-12.
[http://dx.doi.org/10.1016/j.biomaterials.2019.03.024] [PMID: 30921730]
[http://dx.doi.org/10.1016/j.biomaterials.2019.03.024] [PMID: 30921730]
[6]
Mehra, R.; Vats, P.; Kalyana-Sundaram, S.; Udager, A.M.; Roh, M.; Alva, A.; Pan, J.; Lonigro, R.J.; Siddiqui, J.; Weizer, A.; Lee, C.; Cao, X.; Wu, Y.M.; Robinson, D.R.; Dhanasekaran, S.M.; Chinnaiyan, A.M. Primary urethral clear-cell adenocarcinoma: comprehensive analysis by surgical pathology, cytopathology, and next-generation sequencing. Am. J. Pathol., 2014, 184(3), 584-591.
[http://dx.doi.org/10.1016/j.ajpath.2013.11.023] [PMID: 24389164]
[http://dx.doi.org/10.1016/j.ajpath.2013.11.023] [PMID: 24389164]
[7]
WHO Classification of Female Genital Tumours, 5th ed; International Agency for Research on Cancer, 2020, pp. 65-67.
[8]
Cantrell, B.B.; Leifer, G.; Deklerk, D.P.; Eggleston, J.C. Papillary adenocarcinoma of the prostatic urethra with clear-cell appearance. Cancer, 1981, 48(12), 2661-2667.
[http://dx.doi.org/10.1002/1097-0142(19811215)48:12<2661::AID-CNCR2820481218>3.0.CO;2-A] [PMID: 7306922]
[http://dx.doi.org/10.1002/1097-0142(19811215)48:12<2661::AID-CNCR2820481218>3.0.CO;2-A] [PMID: 7306922]
[9]
Sugimura, R.; Kawahara, T.; Noguchi, G.; Takamoto, D.; Izumi, K.; Miyoshi, Y.; Kishida, T.; Yao, M.; Tanabe, M.; Uemura, H. Clear cell adenocarcinoma of the prostatic urethra: A case report. IJU Case Rep., 2019, 2(1), 19-22.
[http://dx.doi.org/10.1002/iju5.12028] [PMID: 32743364]
[http://dx.doi.org/10.1002/iju5.12028] [PMID: 32743364]
[10]
Li, C-C.; Chang, C-W.; Yin, H-L. Primary clear cell adenocarcinoma of prostate: A diagnostic challenge. Urol. Ann, 2021, 13(4), 434-437.
[http://dx.doi.org/10.4103/UA.UA_187_20] [PMID: 34759659]
[http://dx.doi.org/10.4103/UA.UA_187_20] [PMID: 34759659]
[11]
Warmann, S.W.; Vogel, M.; Wehrmann, M.; Scheel-Walter, H.G.; Artlich, A.; Pereira, P.L.; Fuchs, J. Giant Mullerian duct cyst with malignant transformation in 15-year-old boy Urology, 2006, 67, 424-e3–424.e6. .
[http://dx.doi.org/10.1016/j.urology.2005.09.009]
[http://dx.doi.org/10.1016/j.urology.2005.09.009]
[12]
Messika-Zeitoun, L.; Gouédard, L.; Belville, C.; Dutertre, M.; Lins, L.; Imbeaud, S.; Hughes, I.A.; Picard, J.Y.; Josso, N.; di Clemente, N. Autosomal recessive segregation of a truncating mutation of anti-Müllerian type II receptor in a family affected by the persistent Müllerian duct syndrome contrasts with its dominant negative activity in vitro. J. Clin. Endocrinol. Metab., 2001, 86(9), 4390-4397.
[http://dx.doi.org/10.1210/jcem.86.9.7839] [PMID: 11549681]
[http://dx.doi.org/10.1210/jcem.86.9.7839] [PMID: 11549681]
[13]
Fadare, O.; Zhao, C.; Khabele, D.; Parkash, V.; Quick, C.M.; Gwin, K.; Desouki, M.M. Comparative analysis of Napsin A, alpha-methylacyl-coenzyme A racemase (AMACR, P504S), and hepatocyte nuclear factor 1 beta as diagnostic markers of ovarian clear cell carcinoma: an immunohistochemical study of 279 ovarian tumours. Pathology, 2015, 47(2), 105-111.
[http://dx.doi.org/10.1097/PAT.0000000000000223] [PMID: 25551297]
[http://dx.doi.org/10.1097/PAT.0000000000000223] [PMID: 25551297]
[14]
Baig, F.A.; Hamid, A.; Mirza, T.; Syed, S. Ductal and acinar adenocarcinoma of prostate: morphological and immunohistochemical characterization. Oman Med. J., 2015, 30(3), 162-166.
[http://dx.doi.org/10.5001/omj.2015.36] [PMID: 26171121]
[http://dx.doi.org/10.5001/omj.2015.36] [PMID: 26171121]
[15]
Mai, K.T.; Bateman, J.; Djordjevic, B.; Flood, T.A.; Belanger, E.C. Clear cell urothelial carcinoma. Int. J. Surg. Pathol., 2017, 25(1), 18-25.
[http://dx.doi.org/10.1177/1066896916660195] [PMID: 27422469]
[http://dx.doi.org/10.1177/1066896916660195] [PMID: 27422469]
[16]
Bong, I.P.N.; Ng, C.C.; Othman, N.; Esa, E. Gene expression profiling and in vitro functional studies reveal RAD54L as a potential therapeutic target in multiple myeloma. Genes Genomics, 2022, 44(8), 957-966.
[http://dx.doi.org/10.1007/s13258-022-01272-7] [PMID: 35689754]
[http://dx.doi.org/10.1007/s13258-022-01272-7] [PMID: 35689754]
[17]
Avsar, T.; El-mouyhiddin, R.; Calis, S.; Yapicier, O.; Kilic, T. Association of mthfr, mtrr, and rad54l gene variations with meningioma and their correlation with the tumor’s histopathological characteristics in turkish cohort. Turk Neurosurg., 2021, 31(4), 587-593.
[http://dx.doi.org/10.5137/1019-5149.JTN.33347-20.2] [PMID: 34169999]
[http://dx.doi.org/10.5137/1019-5149.JTN.33347-20.2] [PMID: 34169999]
[18]
Yoshimura, Y.; Kurasawa, M.; Yorozu, K.; Puig, O.; Bordogna, W.; Harada, N. Antitumor activity of alectinib, a selective ALK inhibitor, in an ALK-positive NSCLC cell line harboring G1269A mutation. Cancer Chemother. Pharmacol., 2016, 77(3), 623-628.
[http://dx.doi.org/10.1007/s00280-016-2977-y] [PMID: 26849637]
[http://dx.doi.org/10.1007/s00280-016-2977-y] [PMID: 26849637]
[19]
Carlsson, E.; Ranki, A.; Sipilä, L.; Karenko, L.; Abdel-Rahman, W.M.; Ovaska, K.; Siggberg, L.; Aapola, U.; Ässämäki, R.; Häyry, V.; Niiranen, K.; Helle, M.; Knuutila, S.; Hautaniemi, S.; Peltomäki, P.; Krohn, K. Potential role of a navigator gene NAV3 in colorectal cancer. Br. J. Cancer, 2012, 106(3), 517-524.
[http://dx.doi.org/10.1038/bjc.2011.553] [PMID: 22173670]
[http://dx.doi.org/10.1038/bjc.2011.553] [PMID: 22173670]
[20]
Li, H.; Yang, L.L.; Wu, C.C.; Xiao, Y.; Mao, L.; Chen, L.; Zhang, W.F.; Sun, Z.J. Expression and prognostic value of IFIT1 and IFITM3 in head and neck squamous cell carcinoma. Am. J. Clin. Pathol., 2020, 153(5), 618-629.
[http://dx.doi.org/10.1093/ajcp/aqz205] [PMID: 31977029]
[http://dx.doi.org/10.1093/ajcp/aqz205] [PMID: 31977029]
[21]
Zhao, W.; Wang, Y.; Yue, X. SLC22A16 upregulation is an independent unfavorable prognostic indicator in gastric cancer. Future Oncol., 2018, 14(21), 2139-2148.
[http://dx.doi.org/10.2217/fon-2018-0207] [PMID: 29698084]
[http://dx.doi.org/10.2217/fon-2018-0207] [PMID: 29698084]
[22]
Wang, X.; Haswell, J.R.; Roberts, C.W.M. Molecular pathways: SWI/SNF (BAF) complexes are frequently mutated in cancer--mechanisms and potential therapeutic insights. Clin. Cancer Res., 2014, 20(1), 21-27.
[http://dx.doi.org/10.1158/1078-0432.CCR-13-0280] [PMID: 24122795]
[http://dx.doi.org/10.1158/1078-0432.CCR-13-0280] [PMID: 24122795]
[23]
Jelinic, P.; Mueller, J.J.; Olvera, N.; Dao, F.; Scott, S.N.; Shah, R.; Gao, J.; Schultz, N.; Gonen, M.; Soslow, R.A.; Berger, M.F.; Levine, D.A. Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. Nat. Genet., 2014, 46(5), 424-426.
[http://dx.doi.org/10.1038/ng.2922] [PMID: 24658004]
[http://dx.doi.org/10.1038/ng.2922] [PMID: 24658004]
[24]
La Fleur, L.; Falk-Sörqvist, E.; Smeds, P.; Berglund, A.; Sundström, M.; Mattsson, J.S.M.; Brandén, E.; Koyi, H.; Isaksson, J.; Brunnström, H.; Nilsson, M.; Micke, P.; Moens, L.; Botling, J. Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11. Lung Cancer, 2019, 130, 50-58.
[http://dx.doi.org/10.1016/j.lungcan.2019.01.003] [PMID: 30885352]
[http://dx.doi.org/10.1016/j.lungcan.2019.01.003] [PMID: 30885352]
[25]
Kokorovic, A.; Westerman, M.E.; Krause, K.; Hernandez, M.; Brooks, N.; Dinney, C.P.N.; Kamat, A.M.; Navai, N. Revisiting an old conundrum: A systematic review and meta-analysis of intravesical therapy for treatment of urothelial carcinoma of the prostate. Bladder Cancer, 2021, 7(2), 243-252.
[http://dx.doi.org/10.3233/BLC-200404] [PMID: 34195319]
[http://dx.doi.org/10.3233/BLC-200404] [PMID: 34195319]
[26]
Bastide, C.; Bruyère, F.; Karsenty, G.; Guy, L.; Rozet, F. Hormonal treatment in prostate cancer. Prog. Urol., 2013, 23(15), 1246-1257.
[http://dx.doi.org/10.1016/j.purol.2013.08.325] [PMID: 24183083]
[http://dx.doi.org/10.1016/j.purol.2013.08.325] [PMID: 24183083]
Article Metrics
![Wayfinder Image](/images/wayfinder.jpg)