子宫内膜异位症相关恶性肿瘤的研究进展
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摘要
子宫内膜异位症是育龄期妇女最常见的妇科疾病之一。子宫内膜异位症恶变率<1%,约80%以上的子宫内膜异位症相关恶性肿瘤发生在卵巢,另外20%发生在包括肠道、直肠阴道隔、腹壁、胸膜等性腺外器官。子宫内膜异位症一旦恶变,将对患者的生命健康造成极大威胁。目前探索有效的诊断和治疗子宫内膜异位症相关恶性肿瘤的方法是临床上的主要挑战。文章针对近年来子宫内膜异位症相关恶性肿瘤的高危因素、临床病理特点、发病机制等研究进行综述。
Endometriosis is a common condition in women of reproductive age. According to several epidemiological studies,endometriosis may be associated with various malignancies,but the frequency of malignancy arising in endometriosis is always supposed lower than 1%. About 80% of endometriosis-associated malignancy(EAM)have been found in the ovary,whereas 20% are localized in extragonadal sites like intestine,rectovaginal septum,abdominal wall,pleura and others. Once the endometriosis is malignant,it will pose a great threat to the health of patients. Currently,exploring effective methods for diagnosis and treatment of EAM is the major clinical challenge. The article reviews the studies of the risk factors,clinicopathological characteristics and pathogenesis of EAM.
Endometriosis is a common condition in women of reproductive age. According to several epidemiological studies,endometriosis may be associated with various malignancies,but the frequency of malignancy arising in endometriosis is always supposed lower than 1%. About 80% of endometriosis-associated malignancy(EAM)have been found in the ovary,whereas 20% are localized in extragonadal sites like intestine,rectovaginal septum,abdominal wall,pleura and others. Once the endometriosis is malignant,it will pose a great threat to the health of patients. Currently,exploring effective methods for diagnosis and treatment of EAM is the major clinical challenge. The article reviews the studies of the risk factors,clinicopathological characteristics and pathogenesis of EAM.
引文
[1] Neto JS,Kho RM,Siufi DF,et al. Cellular,histologic,and molecular changes associated with endometriosis and ovarian cancer[J]. J Minim Invasive Gynecol,2014,21(1):55-63
[2] Burghaus S,Haberle L,Schrauder MG,et al. Endometrio-sis as a risk factor for ovarian or endometrial cancer-re-sults of a hospital-based case-control study[J]. BMC Can-cer,2015,15:751
[3]谢幸,苟文丽.妇产科学[M]. 8版.北京:人民卫生出版社,2014:612-617
[4] Gadducci A,Lanfredini N,Tana R. Novel insights on the malignant transformation of endometriosis into ovarian carcinoma[J]. Gynecol Endocrinol,2014,30(9):612-617
[5] Vercellini P,Vigano P,Buggio L,et al. Perimenopausal management of ovarian endometriosis and associated can-cer risk:When is medical or surgical treatment indicated?Best practice and research[J]. Clin Obstetri Gynaecol,2018,51:151-168
[6] Scott RB. Malignant changes in endometriosis[J]. Obste-tric Gynecol,1953,2(3):283-289
[7] Jaiman S,Pochiraju M,Gundabattula SR,et al. Malignant transformation of pelvic endometriosis:case series and re-view of the literature[J]. Int J Surg Pathol,2015,23(6):465-471
[8] Machado-Linde F,Sanchez-Ferrer ML,Cascales P,et al.Prevalence of endometriosis in epithelial ovarian cancer.Analysis of the associated clinical features and study on molecular mechanisms involved in the possible causality[J]. Euro J Gynaecol Oncol,2015,36(1):21-24
[9] Van Gorp T,Amant F,Neven P,et al. Endometriosis and the development of malignant tumours of the pelvis. A re-view of literature[J]. Best Pract Res Clin Obstet Gynae-col,2004,18(2):349-371
[10] Wu MH,Wang C,Lin CC,et al. Distinct regulation of cy-clooxygenase-2 by interleukin-1 beta in normal and endo-metriotic stromal cells[J]. J Clin Endocrinol Metab,2005,90(1):286-295
[11]Govatati S,Kodati VL,Deenadayal MA,et al. Mutations in the PTEN tumor gene and risk of endometriosis:a casecontrol study[J]. Hum Pathol,1988,19(9):1080-1084
[12] LaGrenade A,Silverberg SG. Ovarian tumors associated with atypical endometriosis[J]. Human pathology,1988,19(9):1080-1084
[13] Akbarzadeh-Jahromi M,Shekarkhar G,Aslani FS,et al.Prevalenceofendometriosis inmalignant epithelial ovarian tumor[J]. Arch Iran Med,2015,18(12):844-848
[14]Stamp JP,Gilks CB,Wesseling M,et al. BAF250a expres-sioninatypicalendometriosisandendometriosis-associated ovarian cancer[J]. Int J Gynecol Cancer,2016,26(5):825-832
[15] Sato N,Tsunoda H,Nishida M,et al. Loss of heterozygosity on 10q23.3 and mutation of the tumor suppressor gene PTEN in benign endometrial cyst of the ovary:Possible se-quence progression from benign endometrial cyst to endo-metrioid carcinoma and clear cell carcinoma of the ovary[J]. Cancer Res,2000,60(24):7052-7056
[16] Krawczyk N,Banys-Paluchowski M,Schmidt D,et al. En-dometriosis-associated malignancy[J]. Geburtshilfe Fraue-nheilkd,2016,76(2):176-181
[17]Yamamoto S,Tsuda H,Takano M,et al. PIK3CA mutation is an early event in the development of endometriosis-asso-ciated ovarian clear cell adenocarcinoma[J]. J Pathol,2011,225(2):189-194
[18]Li D,Zhang Y,Xie Y,et al. Enhanced tumor suppression by adenoviral PTEN gene therapy combined with cisplatin chemotherapy in small-cell lung cancer[J]. Cancer Gene Ther,2013,20(4):251-259
[19] Jones S,Wang TL,Shih IM,et al. Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma[J]. Science,2010,330(61):228-231
[20]Mao TL,Ardighieri L,Li R,et al. Loss of ARID1A expres-sion correlates with stages of tumor progression in uterine endometrioid carcinoma[J]. Mod Pathol,2012,25(2):286A
[21] Chene G,Ouellet V,Rahimi K,et al. The ARID1A path-way in ovarian clear cell and endometrioid carcinoma,contiguous endometriosis,and benign endometriosis[J].Int J Gynaecol Obstet,2015,130(1):27-30
[22] Huang HN,Lin MC,Huang WC,et al. Loss of ARID1A expression and its relationship with PI3K-Akt pathway alterations and ZNF217 amplification in ovarian clear cell carcinoma[J]. Mod Pathol,2014,27(7):983-990
[23] Zhao J,Liu C,Zhao Z. ARID1A:a potential prognostic fac-tor for breast cancer[J]. Tumour Biol,2014,35(5):4813-4819
[24]Chetty R,Govender D. Gene of the month:KRAS[J]. J Clin Pathol,2013,66(7):548-550
[25]KimSI,LeeJW,LeeM,etal.Genomiclandscapeofovarian clear cell carcinoma via whole exome sequencing[J]. Gy-necol Oncol,2018,148(2):375-382
[26]Rechsteiner M,Zimmermann AK,Wild PJ,et al. TP53 mu-tations are common in all subtypes of epithelial ovarian cancer and occur concomitantly with KRAS mutations in the mucinous type[J]. Exp Mol Pathol,2013,95(2):235-241
[27]Nodin B,Zendehrokh N,Sundstrom M,et al. Clinicopatho-logical correlates and prognostic significance of KRAS mutation status in a pooled prospective cohort of epithelial ovarian cancer[J]. Diagnostic Pathology,2013,8:9
[28]Da Silva R,Marie SN,Uno M,et al. CTNNB1,AXIN1 and APC expression analysis of different medulloblastoma variants[J]. Clinics,2013,68(2):167-172
[29]Mcconechy MK,Ding JR,Senz J,et al. Ovarian and endo-metrial endometrioid carcinomas have distinct CTNNB1and PTEN mutation profiles[J]. Mod Pathol,2014,27(1):128-134
[30]梁家仪,李长东,张为远. Wnt/β-连环蛋白信号通路的激活/抑制对小鼠在位子宫内膜及子宫内膜异位症模型的影响[J].中华医学杂志,2012,92(19):1352-1356
[31]Burney RO,Hamilton AE,Aghajanova L,et al. MicroRNA expression profiling of eutopic secretory endometrium in women with versus without endometriosis[J]. Mol Hum Reprod,2009,15(10):625-631
[32]Suryawanshi S,Vlad AM,Lin H,et al. Plasma microRNAs as novel biomarkers for endometriosis and endometriosis-associated ovarian cancer[J]. Clin Cancer Res,2013,19(5):1213-1224
[33] Zhang HW,Lu JQ,Lu YY,et al. Prognostic significance and predictors of the system inflammation score in ovarian clear cell carcinoma[J]. PLoS One,2017,12(5):12
[34] Edwards R,Huang PX,Vlad AM. Chronic inflammation inendometriosisandendometriosis-associatedovariancan-cer:New roles for the“old”complement pathway[J]. On-coimmunology,2015,4(5):3
[35]Lyttle B,Bernardi L,Pavone ME. Ovarian cancer in endo-metriosis:clinical and molecular aspects[J]. Minerva ginecologica,2014,66(2):155-164
[36] Tanase Y,Kawaguchi R,Takahama J,et al. Factors that differentiate between endometriosis-associated ovarian cancer and benign ovarian endometriosis with mural nod-ules[J]. Magn Reson Med Sci,2018,17(3):231-237
[37] Rozenberg S,Antoine C,Vandromme J,et al. Should we abstain from treating women with endometriosis using menopausal hormone therapy,for fear of an increased ovarian cancer risk?[J]. Climacteric,2015,18(4):448-452
[38] Wang CT,Wang DB,Liu KR,et al. Inducing malignant transformation of endometriosis in rats by long-term sus-taining hyperestrogenemia and typeⅡdiabetes[J]. Can-cer Sci,2015,106(1):43-50
[39] Zanetta GM,Webb MJ,Li HZ,et al. Hyperestrogenism:a relevant risk factor for the development of cancer from en-dometriosis[J]. Gynecol Oncol,2000,79(1):18-22
[40]Melin AS,Lundholm C,Malki N,et al. Hormonal and sur-gical treatments for endometriosis and risk of epithelial ovarian cancer[J]. Acta Obstet Gynecol Scand,2013,92(5):546-554
[41] Ruderman R,Pavone ME. Ovarian cancer in endometrio-sis:an update on the clinical and molecular aspects[J].Minerva Ginecol,2017,69(3):286-294
[42]Stern RC,Dash R,Bentley RC,et al. Malignancy in endo-metriosis:Frequency and comparison of ovarian and extra-ovarian types[J]. Int J Gynecol Pathol,2001,20(2):133-139
[43]Kim HS,Kim TH,Chung HH,et al. Risk and prognosis of ovarian cancer in women with endometriosis:a meta-ana-lysis[J]. Br J Cancer,2014,110(7):1878-1890
[44] Wang KC,Chang WH,Lee WL,et al. An increased risk of epithelial ovarian cancer in Taiwanese women with a new surgico-pathological diagnosis of endometriosis[J].BMC Cancer,2014,14:10
[45] Yang B,Wang D,Chen H,et al. The association between endometriosis and survival outcomes of ovarian cancer:Evidence-based on a meta-analysis[J]. Niger J Clin Pract,2015,18(5):577-583
[46] Noli S,Cipriani S,Scarfone G,et al. Long term survival of ovarian endometriosis associated clear cell and endometri-oid ovarian cancers[J]. Int J Gynecol Cancer,2013,23(2):244-248
[47] Taniguchi F. new knowledge and insights about the malig-nant transformation of endometriosis[J]. J Obstet Gynae-col Res,2017,43(7):1093-1100
[48] Stewart LM,Holman C,Aboagye-Sarfo P,et al. In vitro fer-tilization,endometriosis,nulliparity and ovarian cancer risk[J]. Gynecol Oncol,2013,128(2):260-264
[49] Davis M,Rauh-Hain JA,Andrade CA,et al. Comparison of clinical outcomes of patients with clear cell and endo-metrioid ovarian cancer associated with endometriosis to papillary serous carcinoma of the ovary[J]. Gynecol On-col,2014,132(3):760-766
[50] Erzen M,Rakar S,Klancnik B,et al. Endometriosis-asso-ciated ovarian carcinoma(EAOC):An entity distinct from other ovarian carcinomas as suggested by a nested case-control study[J]. Gynecol Oncol,2001,83(1):100-108
[2] Burghaus S,Haberle L,Schrauder MG,et al. Endometrio-sis as a risk factor for ovarian or endometrial cancer-re-sults of a hospital-based case-control study[J]. BMC Can-cer,2015,15:751
[3]谢幸,苟文丽.妇产科学[M]. 8版.北京:人民卫生出版社,2014:612-617
[4] Gadducci A,Lanfredini N,Tana R. Novel insights on the malignant transformation of endometriosis into ovarian carcinoma[J]. Gynecol Endocrinol,2014,30(9):612-617
[5] Vercellini P,Vigano P,Buggio L,et al. Perimenopausal management of ovarian endometriosis and associated can-cer risk:When is medical or surgical treatment indicated?Best practice and research[J]. Clin Obstetri Gynaecol,2018,51:151-168
[6] Scott RB. Malignant changes in endometriosis[J]. Obste-tric Gynecol,1953,2(3):283-289
[7] Jaiman S,Pochiraju M,Gundabattula SR,et al. Malignant transformation of pelvic endometriosis:case series and re-view of the literature[J]. Int J Surg Pathol,2015,23(6):465-471
[8] Machado-Linde F,Sanchez-Ferrer ML,Cascales P,et al.Prevalence of endometriosis in epithelial ovarian cancer.Analysis of the associated clinical features and study on molecular mechanisms involved in the possible causality[J]. Euro J Gynaecol Oncol,2015,36(1):21-24
[9] Van Gorp T,Amant F,Neven P,et al. Endometriosis and the development of malignant tumours of the pelvis. A re-view of literature[J]. Best Pract Res Clin Obstet Gynae-col,2004,18(2):349-371
[10] Wu MH,Wang C,Lin CC,et al. Distinct regulation of cy-clooxygenase-2 by interleukin-1 beta in normal and endo-metriotic stromal cells[J]. J Clin Endocrinol Metab,2005,90(1):286-295
[11]Govatati S,Kodati VL,Deenadayal MA,et al. Mutations in the PTEN tumor gene and risk of endometriosis:a casecontrol study[J]. Hum Pathol,1988,19(9):1080-1084
[12] LaGrenade A,Silverberg SG. Ovarian tumors associated with atypical endometriosis[J]. Human pathology,1988,19(9):1080-1084
[13] Akbarzadeh-Jahromi M,Shekarkhar G,Aslani FS,et al.Prevalenceofendometriosis inmalignant epithelial ovarian tumor[J]. Arch Iran Med,2015,18(12):844-848
[14]Stamp JP,Gilks CB,Wesseling M,et al. BAF250a expres-sioninatypicalendometriosisandendometriosis-associated ovarian cancer[J]. Int J Gynecol Cancer,2016,26(5):825-832
[15] Sato N,Tsunoda H,Nishida M,et al. Loss of heterozygosity on 10q23.3 and mutation of the tumor suppressor gene PTEN in benign endometrial cyst of the ovary:Possible se-quence progression from benign endometrial cyst to endo-metrioid carcinoma and clear cell carcinoma of the ovary[J]. Cancer Res,2000,60(24):7052-7056
[16] Krawczyk N,Banys-Paluchowski M,Schmidt D,et al. En-dometriosis-associated malignancy[J]. Geburtshilfe Fraue-nheilkd,2016,76(2):176-181
[17]Yamamoto S,Tsuda H,Takano M,et al. PIK3CA mutation is an early event in the development of endometriosis-asso-ciated ovarian clear cell adenocarcinoma[J]. J Pathol,2011,225(2):189-194
[18]Li D,Zhang Y,Xie Y,et al. Enhanced tumor suppression by adenoviral PTEN gene therapy combined with cisplatin chemotherapy in small-cell lung cancer[J]. Cancer Gene Ther,2013,20(4):251-259
[19] Jones S,Wang TL,Shih IM,et al. Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma[J]. Science,2010,330(61):228-231
[20]Mao TL,Ardighieri L,Li R,et al. Loss of ARID1A expres-sion correlates with stages of tumor progression in uterine endometrioid carcinoma[J]. Mod Pathol,2012,25(2):286A
[21] Chene G,Ouellet V,Rahimi K,et al. The ARID1A path-way in ovarian clear cell and endometrioid carcinoma,contiguous endometriosis,and benign endometriosis[J].Int J Gynaecol Obstet,2015,130(1):27-30
[22] Huang HN,Lin MC,Huang WC,et al. Loss of ARID1A expression and its relationship with PI3K-Akt pathway alterations and ZNF217 amplification in ovarian clear cell carcinoma[J]. Mod Pathol,2014,27(7):983-990
[23] Zhao J,Liu C,Zhao Z. ARID1A:a potential prognostic fac-tor for breast cancer[J]. Tumour Biol,2014,35(5):4813-4819
[24]Chetty R,Govender D. Gene of the month:KRAS[J]. J Clin Pathol,2013,66(7):548-550
[25]KimSI,LeeJW,LeeM,etal.Genomiclandscapeofovarian clear cell carcinoma via whole exome sequencing[J]. Gy-necol Oncol,2018,148(2):375-382
[26]Rechsteiner M,Zimmermann AK,Wild PJ,et al. TP53 mu-tations are common in all subtypes of epithelial ovarian cancer and occur concomitantly with KRAS mutations in the mucinous type[J]. Exp Mol Pathol,2013,95(2):235-241
[27]Nodin B,Zendehrokh N,Sundstrom M,et al. Clinicopatho-logical correlates and prognostic significance of KRAS mutation status in a pooled prospective cohort of epithelial ovarian cancer[J]. Diagnostic Pathology,2013,8:9
[28]Da Silva R,Marie SN,Uno M,et al. CTNNB1,AXIN1 and APC expression analysis of different medulloblastoma variants[J]. Clinics,2013,68(2):167-172
[29]Mcconechy MK,Ding JR,Senz J,et al. Ovarian and endo-metrial endometrioid carcinomas have distinct CTNNB1and PTEN mutation profiles[J]. Mod Pathol,2014,27(1):128-134
[30]梁家仪,李长东,张为远. Wnt/β-连环蛋白信号通路的激活/抑制对小鼠在位子宫内膜及子宫内膜异位症模型的影响[J].中华医学杂志,2012,92(19):1352-1356
[31]Burney RO,Hamilton AE,Aghajanova L,et al. MicroRNA expression profiling of eutopic secretory endometrium in women with versus without endometriosis[J]. Mol Hum Reprod,2009,15(10):625-631
[32]Suryawanshi S,Vlad AM,Lin H,et al. Plasma microRNAs as novel biomarkers for endometriosis and endometriosis-associated ovarian cancer[J]. Clin Cancer Res,2013,19(5):1213-1224
[33] Zhang HW,Lu JQ,Lu YY,et al. Prognostic significance and predictors of the system inflammation score in ovarian clear cell carcinoma[J]. PLoS One,2017,12(5):12
[34] Edwards R,Huang PX,Vlad AM. Chronic inflammation inendometriosisandendometriosis-associatedovariancan-cer:New roles for the“old”complement pathway[J]. On-coimmunology,2015,4(5):3
[35]Lyttle B,Bernardi L,Pavone ME. Ovarian cancer in endo-metriosis:clinical and molecular aspects[J]. Minerva ginecologica,2014,66(2):155-164
[36] Tanase Y,Kawaguchi R,Takahama J,et al. Factors that differentiate between endometriosis-associated ovarian cancer and benign ovarian endometriosis with mural nod-ules[J]. Magn Reson Med Sci,2018,17(3):231-237
[37] Rozenberg S,Antoine C,Vandromme J,et al. Should we abstain from treating women with endometriosis using menopausal hormone therapy,for fear of an increased ovarian cancer risk?[J]. Climacteric,2015,18(4):448-452
[38] Wang CT,Wang DB,Liu KR,et al. Inducing malignant transformation of endometriosis in rats by long-term sus-taining hyperestrogenemia and typeⅡdiabetes[J]. Can-cer Sci,2015,106(1):43-50
[39] Zanetta GM,Webb MJ,Li HZ,et al. Hyperestrogenism:a relevant risk factor for the development of cancer from en-dometriosis[J]. Gynecol Oncol,2000,79(1):18-22
[40]Melin AS,Lundholm C,Malki N,et al. Hormonal and sur-gical treatments for endometriosis and risk of epithelial ovarian cancer[J]. Acta Obstet Gynecol Scand,2013,92(5):546-554
[41] Ruderman R,Pavone ME. Ovarian cancer in endometrio-sis:an update on the clinical and molecular aspects[J].Minerva Ginecol,2017,69(3):286-294
[42]Stern RC,Dash R,Bentley RC,et al. Malignancy in endo-metriosis:Frequency and comparison of ovarian and extra-ovarian types[J]. Int J Gynecol Pathol,2001,20(2):133-139
[43]Kim HS,Kim TH,Chung HH,et al. Risk and prognosis of ovarian cancer in women with endometriosis:a meta-ana-lysis[J]. Br J Cancer,2014,110(7):1878-1890
[44] Wang KC,Chang WH,Lee WL,et al. An increased risk of epithelial ovarian cancer in Taiwanese women with a new surgico-pathological diagnosis of endometriosis[J].BMC Cancer,2014,14:10
[45] Yang B,Wang D,Chen H,et al. The association between endometriosis and survival outcomes of ovarian cancer:Evidence-based on a meta-analysis[J]. Niger J Clin Pract,2015,18(5):577-583
[46] Noli S,Cipriani S,Scarfone G,et al. Long term survival of ovarian endometriosis associated clear cell and endometri-oid ovarian cancers[J]. Int J Gynecol Cancer,2013,23(2):244-248
[47] Taniguchi F. new knowledge and insights about the malig-nant transformation of endometriosis[J]. J Obstet Gynae-col Res,2017,43(7):1093-1100
[48] Stewart LM,Holman C,Aboagye-Sarfo P,et al. In vitro fer-tilization,endometriosis,nulliparity and ovarian cancer risk[J]. Gynecol Oncol,2013,128(2):260-264
[49] Davis M,Rauh-Hain JA,Andrade CA,et al. Comparison of clinical outcomes of patients with clear cell and endo-metrioid ovarian cancer associated with endometriosis to papillary serous carcinoma of the ovary[J]. Gynecol On-col,2014,132(3):760-766
[50] Erzen M,Rakar S,Klancnik B,et al. Endometriosis-asso-ciated ovarian carcinoma(EAOC):An entity distinct from other ovarian carcinomas as suggested by a nested case-control study[J]. Gynecol Oncol,2001,83(1):100-108
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