Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumors: a report of 15 cases in a national medical center / 中华妇产科杂志

Objective: To evaluate the incidence, treatment, and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor (MGCT-NDG). Methods: A retrospective study was performed on Swyer syndrome patients with MGCT-NDG between January 2011 and December 2022 in Peking Union Medical College Hospital to investigate their characteristics and outcomes. Results: A total of 15 patients (4.9%, 15/307) with Swyer syndrome were identified in 307 MGCT-NDG patients. The average age at diagnosis of MGCT-NDG and Swyer syndrome were (16.8±6.7) and (16.7±6.6) years, respectively. Six cases were preoperatively diagnosed as Swyer syndrome, of which 4 cases received bilateral gonadectomy with or without hysterectomy, while the other 2 cases underwent removal of gonadal tumor and unilateral gonadectomy with hysterectomy, respectively. Of the 9 patients postoperatively diagnosed as Swyer syndrome, unilateral gonadectomy, removal of gonadal tumor, and unilateral gonadectomy with hysterectomy were performed in 6 patients, 2 patients, and 1 patient, respectively. Mixed malignant germ cell tumor (MGCT;10 cases), yolk sac tumor (4 cases), and immature teratoma (1 case) were the pathological subtypes, in the descending order. There were International Federation of Gynecology and Obstetrics (FIGO) stage Ⅰ in 6 cases, stage Ⅱ in 3 cases, stage Ⅲ in 5 cases, and stage Ⅳ in 1 case, respectively. Eleven patients received reoperation for residual gonadectomy after a average delay of (7.9±6.2) months, including 8 MGCT-NDG patients and 1 gonadoblastoma patient, no tumor involved was seen in the remaining gonads in the other 2 cases. Ten patients experienced at least one recurrence, with a median event free survival of 9 months (5, 30 months), of which 2 patients received surgery only at the time of initial treatment. All patients with recurrence received surgery and combined with postoperative chemotherapy. After a median follow-up of 25 months (15, 42 months), 10 patients were disease-free, 3 patients died of the tumor, 1 died of side effects of leukemia chemotherapy, and 1 survived with disease. Conclusion: The incidence rate of Swyer syndrome in patients with MGCT-NDG is about 4.9%; timely diagnosis and bilateral gonadectomy should be emphasized to reduce the risk of reoperation and second carcinogenesis in this population.

Value of postoperative radiotherapy and analysis of prognostic factors in early-stage neuroendocrine carcinoma of cervix / 中华妇产科杂志

Objective: To evaluate the effect of postoperative radiotherapy and high-risk pathological factors on the prognosis of early-stage neuroendocrine carcinoma of cervix (NECC). Methods: A single-center retrospective cohort study of early-stage NECC in Peking Union Medical College Hospital from January 2011 to April 2022 were enrolled. The patients were treated with radical hysterectomy±adjuvant treatment. They were divided into postoperative non-radiation group and postoperative radiation group. The possible postoperative recurrence risk factors identified by univariate analysis were assessed using multivariate logistic regression. The Kaplan-Meier method was used to analyze the progression free survival (PFS), overall survival (OS), recurrence rate, and mortality rate. Results: (1) Sixty-two cases were included in the study, including 33 cases in postoperative non-radiation group and 29 cases in postoperative radiation group. (2) The median follow-up time was 37 months (ranged 12-116 months), with 23 cases (37%) experienced recurrences. There were 7 cases (11%) pelvic recurrences and 20 cases (32%) distant recurrences, in which including 4 cases (6%) both pelvic and distant recurrences. Compared with postoperative non-radiation group, the postoperative radiation group had a lower pelvic recurrence rate (18% vs 3%; P=0.074) but without statistic difference, a slightly elevated distant recurrence rate (24% vs 41%; P=0.150) and overall recurrence rate (33% vs 41%; P=0.513) without statistically significances. Univariate analysis showed that lymph-vascular space invasion and the depth of cervical stromal invasion≥1/2 were risk factors for postoperative recurrence (all P<0.05). Multivariate analysis showed lymph-vascular space invasion was an independent predictor for postoperative recurrence (OR=23.03, 95%CI: 3.55-149.39, P=0.001). (3) During the follow-up period, 18 cases (29%, 18/62) died with tumor, with 10 cases (30%, 10/33) in postoperative non-radiation group and 8 cases (28%, 8/29) in postoperative radiation group, without significant difference (P=0.814). The postoperative 3-year and 5-year survival rate was 79.2%, 60.8%. The depth of cervical stromal invasion≥1/2 was more common in postoperative radiation group (27% vs 64%; P=0.011), and postoperative radiation in such patients showed an extended trend in PFS (32.3 vs 53.9 months) and OS (39.4 vs 73.4 months) but without statistic differences (P=0.704, P=0.371). Compared with postoperative non-radiation group, the postoperative radiation did not improve PFS (54.5 vs 37.3 months; P=0.860) and OS (56.2 vs 62.4 months; P=0.550) in patients with lymph-vascular space invasion. Conclusions: Postoperative radiation in early-stage NECC patients has a trend to reduce pelvic recurrence but not appear to decrease distant recurrence and overall recurrence, and has not improved mortality. For patients with the depth of cervical stromal invasion≥1/2, postoperative radiation has a trend of prolonging OS and PFS but without statistic difference. Lymph-vascular space invasion is an independent predictor for postoperative recurrence, but postoperative radiation in such patients does not seem to have any survival benefits.

Clinical Characterization of Patients with Ovarian Mass Combined with Dysplasia of Secondary Sexual Characteristics / 中国医学科学院学报

Objective To investigate the clinical characteristics of preadolescent and adolescent female patients with ovarian mass combined with dysplasia of secondary sexual characteristics. Methods This study retrospectively analyzed 18 cases of ovarian mass combined with dysplasia of secondary sexual characteristics aged 0-19 years admitted to Peking Union Medical College Hospital from January 2012 to November 2019.By analyzing the clinical manifestations,surgical methods,postoperative pathology,therapies and prognosis of the cases,we summarized the diagnosis and treatment ideas. Results Among the 18 cases,7(7/18,38.9%)developed secondary sex signs before puberty,including 5 cases showing precocity(including 2 cases of juvenile granulosa cell tumor,1 case of gonadoblastoma,1 case of ovarian follicular cyst,and 1 case of 46,XY simple gonadal dysplasia combined with dysgerminoma)and 2 cases presenting masculine manifestations(1 case of steroid cell tumor and 1 case of sclerosing stromal tumor).The rest 11(11/18,61.1%)cases showed abnormal development of secondary sexual characteristics during puberty,including 8 cases with masculine manifestations or abnormal menstruation after menarche(7 cases with sex cord stromal cell tumor and 1 case with cystic granulosa cell tumor),2 cases with primary amenorrhea(1 case with androgen insensitivity syndrome combined with testicular sertoli cell tumor and 1 case with endometriosis cyst combined with reproductive tract malformation),and 1 case diagnosed as 46,XX gonadal dysplasia with serous cystadenoma and no secondary sexual development during puberty. Conclusions Sex hormone levels should be actively tested in the case of prepubertal secondary sexual characteristics appearing early,pubertal secondary sexual characteristics being abnormal(underdevelopment),and/or menstrual abnormalities.Imaging examination should be performed to exclude ovarian organic lesions,and chromosome karyotype analysis should be performed if necessary.The diagnosis of ovarian mass in preadolescent and adolescent females with related symptoms should first be alerted to cord stromal cell tumor.It is recommended to rule out the possibility of combined reproductive tract malformation in the adolescent patients with primary amenorrhea.Chromosome examination should be conducted to rule out the possibility of gonadal dysplasia in the adolescent patients with primary amenorrhea and/or no development of secondary sexual characteristics.

Identification of low-risk indicators of early stage cervical cancer / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore the low-risk indicators of early cervical cancer.</p><p><b>METHODS</b>The medical records of 201 patients undergoing radical surgery between March 2000 and April 2011 for staging Ia2,Ib1 (tumor diameter≤2cm) cervix cancer were retrospectively reviewed, with particular focus on the pathological findings [parametrial involvement, positive margin, positive pelvic lymph node, and lymph vascular space invasion (LVSI)], treatment, and outcomes.</p><p><b>RESULTS</b>The operation duration ranged 75-330min (mean:188.87 min) and the intra-operative blood loss was approximately 100-2500 ml (mean: 583.33 ml). Pathology showed the rate of parametrial spread, positive margins, lymph node metastasis, LVSI was 0, 6.97%, 12.44%, and 17.41%. Based on the pathologic findings, the patients were classified as two groups: group A had 147 patients(73.13%) with no neoplasm or tumor diameter ≤2 cm,while group B had 54 patients (26.87%) with tumor diameter > 2 cm. The incidence of ≥ 1/2 cervical stromal invasion, LVSI, positive lymph node, underlying section of uterus involvement, and low tumor differentiation in group A and B were 20.14% vs. 85.19% (p = 0.000), 13.61% vs. 27.78%(p = 0.019), 9.52% vs. 20.37% (p=0.039), 4.82% vs. 14.81% (p=0.008), and 35.37% vs. 44.44% (p=0.025), respectively, with significant differences. Among the 163 patients who were followed up for more than 3 months, 10(6.13%) developed recurrence whereas no patient died.</p><p><b>CONCLUSIONS</b>Pathologic parametrial involvement in clinical stage 1a2 and 1b1 cervical cancer is uncommon. Tumor size and cervical stromal invasion can be used to identify low-risk population that are worthy of consideration for studies of less radical surgery performed in conjunction with pelvic lymphadenectomy.</p>

Prognostic factors and fertility outcomes of borderline ovarian tumors after conservative surgery / 中国医学科学院学报

<p><b>OBJECTIVE</b>To evaluate the prognostic factors and fertility outcomes of borderline ovarian tumors (BOT) after conservative surgery.</p><p><b>METHODS</b>The clinical data of 109 patients with BOT who were treated in Peking Union Medical College Hospital from January 1990 to December 2007 were retrospectively analyzed. According to the FIGO staging system,there were 34(31.2%) patients at Stage Ia and Ib, 66 (60.6%) at Stage Ic, 2 (1.8%) at Stage II and 7(6.4%) at stage III. No patient was at Stage 4.</p><p><b>RESULTS</b>Surgical treatment included comprehensive staging surgery (n=40, 36.7%), ovarian cystectomy (n=27,24.8%), and unilateral salpingo-ovariectomy (n=42, 38.5%). The average follow-up period was (60.3±42.5) months. Relapse occurred in 25 patients (22.9%), and the mean duration from therapy to recurrence was (36.1±31.9) months. Only one patient died of BOT. Multivariate analysis showed that surgery procedure and tumor stage were the independent prognostic factors affecting recurrence. Of 66 patients with the desire of fertility, 24 (36.4%) finally got pregnant.</p><p><b>CONCLUSIONS</b>Conservative surgery has comparatively good prognosis and should be the first choice for younger patients with the desire of fertility. The high-risk factors should be evaluated before the initiation of treatment.</p>

Treatment and prognosis of malignant ovarian neoplasms complicating pregnancy / 中国医学科学院学报

<p><b>OBJECTIVE</b>To summarize the clinicopathological features and prognosis of malignant ovarian neoplasms complicating pregnancy and explore the rational treatment.</p><p><b>METHODS</b>The clinical data of 38 patients with malignant ovarian neoplasms complicating pregnancy were retrospectively analyzed,and the intra-surgical pathological sections were reviewed. International Federation of Gynecology and Obstetrics (FIGO) staging system (1988) was applied.</p><p><b>RESULTS</b>Of these 38 patients,the malignancies included epithelial ovarian cancer (n=9, 23.7%), epithelial borderline ovarian tumor (n=13, 34.2%),ovarian malignant germ cell tumors (n=11, 28.9%), sex cord stromal tumors (n=3, 7.9%), and metastatic tumor from gastrointestinal tracts (n=2, 5.3%). Twenty-seven patients (71.1%) were at stage I. The pregnancy outcomes included termination in the first trimester (n=8), full-term vaginal delivery (n=6), full-term Cesarean section (n=15), and therapeutical Cesarean section for premature birth (n=9). One newborn died,and the remaining 29 survived in a healthy status. All patients underwent surgical treatment,among whom two patients received surgeries during pregnancy. Patients were followed up for (40.5±38.5) months,during which one patient was lost to follow-up, 7 died, 1 survived with tumor, and 29 (76.3%) survived free of tumors.</p><p><b>CONCLUSIONS</b>The management of ovarian malignancies complicating pregnancy should be individualized. Both surgical treatment and chemotherapy are relatively safe in the second and third trimesters. Satisfactory prognosis can be expected after appropriate treatment.</p>

Heterogeneity of human breast cancer cells and their biological behavior / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To investigate the heterogeneity of human breast cancer cells, their influence on biological behavior of tumor cells and clinical implications.</p><p><b>METHODS</b>The subpopulations of MCF-7 breast cancer cells were isolated by Percoll gradient centrifugation. DNA content and cell cycle distribution were detected with flow cytometry. Tumor chemosensitivity analysis was performed with MTT assay.</p><p><b>RESULTS</b>Heterogeneity was observed in DNA content and cell cycle distribution among four subpopulations of breast cancer cells, which were related to their proliferation ability and chemosensitivity results.</p><p><b>CONCLUSION</b>Hereditary instability and intrinsic characteristics of most tumor cells, not only lead to tumor progression and heterogeneity but also cause the loss of monoclonality and the generation of subclones. Further study on some profiles of tumor heterogeneity such as DNA content, cell cycle distribution and their influence on tumor proliferation and chemosensitivity may very well improve the clinical treatment.</p>