Peutz-Jeghers综合征合并多发妇科肿瘤一例

doi:10.12280/gjfckx.20211164

摘要/Abstract

摘要：

Peutz-Jeghers综合征是一种常染色体显性遗传病,常伴发多种妇科肿瘤,且肿瘤类型较为罕见,在临床中易出现漏诊、误诊。现报告1例大连医科大学附属第一医院收治的Peutz-Jeghers综合征患者合并卵巢环状小管性索瘤、卵巢黏液性肿瘤和宫颈微偏腺癌的病例。患者以盆腔包块首次就诊,经卵巢肿瘤剥除术后诊断为卵巢黏液性囊腺瘤,并发微小的卵巢环状小管性索瘤,但经2次肿瘤剥除术后均短期内复发,最终进展为卵巢黏液性囊腺癌,第3次手术切除子宫后偶然发现同时存在宫颈微偏腺癌。回顾该患者的临床特征、诊治过程及术后随访情况,以提高临床医生对Peutz-Jeghers综合征相关妇科肿瘤的认识。

关键词: Peutz-Jeghers综合征, 卵巢肿瘤, 宫颈肿瘤, 妇科外科手术, 病例报告

Abstract:

Peutz-Jeghers syndrome is an autosomal dominant genetic disease, often accompanied by a variety of gynecological tumors, and the tumor type is relatively rare, which is prone to misdiagnosis and missed diagnosis in clinical practice. We report a case of Peutz-Jeghers syndrome with ovarian sex cord tumor with annular tubules, ovarian mucinous tumor and cervical minimal deviation adenocarcinoma admitted to the First Affiliated Hospital of Dalian Medical University. The patient presented to the hospital for the first time with pelvic mass and was diagnosed as ovarian mucinous cystadenoma after ovarian tumor stripping. It was complicated with microscopic ovarian sex cord tumor with annular tubules, but the tumor recurred within a short time after the removal of the tumor twice, and eventually progressed to ovarian mucinous cystadenocarcinoma. The third operation was accidentally found to be accompanied by cervical minimal deviation adenocarcinoma. The clinical features, diagnosis and treatment process and postoperative follow-up of the patient are reviewed to improve clinicians′ cognition of gynecologic tumors associated with Peutz-Jeghers syndrome.

Key words: Peutz-Jeghers syndrome, Ovarian neoplasms, Uterine cervical neoplasms, Gynecologic surgical procedures, Case reports

李晶, 孔繁斗, 汪俊颖. Peutz-Jeghers综合征合并多发妇科肿瘤一例[J]. 国际妇产科学杂志, 2022, 49(4): 403-406.

LI Jing, KONG Fan-dou, WANG Jun-ying. Peutz-Jeghers Syndrome with Multiple Gynecological Tumors: A Case Report[J]. Journal of International Obstetrics and Gynecology, 2022, 49(4): 403-406.

图/表 3

图1 盆腔CT图注：子宫左侧见囊状影、囊壁强化,宫颈见不规则囊状未强化影。

图2 宫颈及附件术后标本注：A 宫颈剖面少许黏液,局部腺体增生,肉眼未见明显病变;B 左侧卵巢多囊性肿物,内见黏液。

图3 病灶镜下病理图注：A 卵巢黏液性囊腺癌（高分化胃型,HE×400）;B 宫颈微偏腺癌（HE×100）。

参考文献 16

[1]	Tacheci L, Kopacova M, Bures J, et al. Peutz-Jeghers syndrome[J]. Curr Opin Gastroenterol, 2021, 37(3):245-254. doi: 10.1097/MOG.0000000000000718. doi: 10.1097/MOG.0000000000000718
[2]	Hearle N, Schumacher V, Menko FH, et al. Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome[J]. Clin Cancer Res, 2006, 12(10):3209-3215. doi: 10.1158/1078-0432.CCR-06-0083. doi: 10.1158/1078-0432.CCR-06-0083
[3]	Arisa U, Iori K, Kouji B, et al. Gynecological tumors in patients with Peutz-Jeghers syndrome (PJS)[J]. Open J Genetics, 2011, 1(3):65-69. doi: 10.4236/ojgen.2011.13012. doi: 10.4236/ojgen.2011.13012
[4]	杨心运, 金帆. 黑斑息肉综合征合并多发妇科肿瘤1例及文献复习[J]. 中国实用妇科与产科杂志, 2018, 34(8):931-937. doi: 10.19538/j.fk2018080124. doi: 10.19538/j.fk2018080124
[5]	Young RH, Welch WR, Dickersin GR, et al. Ovarian sex cord tumor with annular tubules: Review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix[J]. Cancer, 1982, 50(7):1384-1402. doi: 10.1002/1097-0142(19821001)50:7<1384::aid-cncr2820500726>3.0.co;2-5. doi: 10.1002/1097-0142(19821001)50:7<1384::aid-cncr2820500726>3.0.co;2-5 pmid: 7104978
[6]	张国楠, 王登凤. 重视子宫颈胃型腺癌,提高精准诊治水平[J]. 中国实用妇科与产科杂志, 2021, 37(1):25-28. doi: 10.19538/j.fk2021010106. doi: 10.19538/j.fk2021010106
[7]	Talia KL, McCluggage WG. The developing spectrum of gastric-type cervical glandular lesions[J]. Pathol, 2018, 50(20):122-133. doi: 10.1016/j.pathol.2017.09.009. doi: 10.1016/j.pathol.2017.09.009
[8]	Seidman JD. Mucinous lesions of the fallopian tube. A report of seven cases[J]. Am J Surg Pathol, 1994, 18(12):1205-1212. doi: 10.1097/00000478-199412000-00003. doi: 10.1097/00000478-199412000-00003 pmid: 7977943
[9]	王登凤, 张国楠, 石宇, 等. 子宫颈胃型腺癌11例临床分析[J]. 肿瘤预防与治疗, 2021, 34(5):431-437. doi: 10.3969/j.issn.1674-0904.2021.05.009. doi: 10.3969/j.issn.1674-0904.2021.05.009
[10]	Ohya A, Kobara H, Miyamoto T, et al. Usefulness of the ′cosmos pattern′ for differentiating between cervical gastric-type mucin-positive lesions and other benign cervical cystic lesions in magnetic resonance images[J]. J Obstet Gynaecol Res, 2021, 47(2):745-756. doi: 10.1111/jog.14602. doi: 10.1111/jog.14602
[11]	Mikami Y, Kiyokawa T, Sasajima Y, et al. Reappraisal of synchronous and multifocal mucinous lesions of the female genital tract: a close association with gastric metaplasia[J]. Histopathology, 2009, 54(2): 184-191. doi: 10.1111/j.1365-2559.2008.03202.x. doi: 10.1111/j.1365-2559.2008.03202.x
[12]	Kato N, Sugawara M, Maeda K, et al. Pyloric gland metaplasia/differentiation in multiple organ systems in a patient with Peutz-Jegher’s syndrome[J]. Pathol Int, 2011, 61(6):369-372. doi: 10.1111/j.1440-1827.2011.02670.x. doi: 10.1111/j.1440-1827.2011.02670.x
[13]	Nishio S, Mikami Y, Tokunaga H, et al. Analysis of gastric-type mucinous carcinoma of the uterine cervix-an aggressive tumor with a poor prognosis:a multi-institutional study[J]. Gynecol Oncol, 2019, 153(1):13-19. doi: 10.1016/j.ygyno.2019.01.022. doi: S0090-8258(19)30063-0 pmid: 30709650
[14]	Neyaz A, Husain N, Deodhar M, et al. Synchronous cervical minimal deviation adenocarcinoma, gastric type adenocarcinoma and lobular endocervical glandular hyperplasia along with STIL in Peutz-Jeghers syndrome: eliciting oncogenesis pathways[J]. Turk Patoloji Derg, 2019, 35(3):247-253. doi: 10.5146/tjpath.2017.01406. doi: 10.5146/tjpath.2017.01406
[15]	李蒙, 孙涛, 蒋宇亮, 等. 64例Peutz-Jeghers综合征患者STK11基因变异分析[J]. 中华医学遗传学杂志, 2019, 36(9):862-865. doi: 10.3760/cma.j.issn.1003-9406.2019.09.002. doi: 10.3760/cma.j.issn.1003-9406.2019.09.002
[16]	Shen N, Li D, Zhu Y, et al. Early genetic testing of STK11 is important for management and genetic counseling for Peutz-Jeghers syndrome[J]. Dig Liver Dis, 2019, 51(9):1353-1355. doi: 10.1016/j.dld.2019.06.003. doi: 10.1016/j.dld.2019.06.003