Objective To investigate the clinic-pathological characteristics and prognosis of 48 female cases with peritoneal pseudomyxoma(PMP).Methods The clinicopathologic features and follow-up data of 48 female patients with PMP diagnosed in the General Hospital of People's Liberation Army from Jan.1982 to Dec.2011 were retrospectively reviewed.The relationship between clinic-pathological characteristics and prognosis were analyzed using log-rank test and Cox proportional hazards model.Results (1) Clinicopathologic features:the mean age of the 48 cases was 58.8 years (range from 24 to 79 years).Symptoms:abdominal distention and abdominal discomfort were the main symptoms.Imaging examinations showed nonspecific abdominal and pelvic lesions in most cases.Treatment:all the 48 patients underwentlaparotomy and cytoreductive surgery (CRS),in which 15 (31％) patients with completeness of the cancer resection (CCR)-1,24(50％) cases with CCR-2,and CCR-3 in 9(19％) cases.Six (12％) cases were treated by intraoperative hyperthermic intraperitoneal chemotherapy (HIPEC) with cisplatin,20 (42％) patients were treated with different options postoperative adjuvant chemotherapy.Pathological types:the cases were histologically classified into 3 subcategories:disseminated peritoneal adenomucinosis (DPAM),peritoneal mucinous carcinomatosis (PMCA),and PMCA with intermediate or discordant features (PMCA-I/D),which were 22 (46％) cases,9 (19％) cases and 17 (35％) cases,respectively.Appendiceal tumors:44(92％) cases underwent appendectomy,in which 38 cases presented appendiceal tumors (including 20 cases of low-grade appendiceal mucinous adenoma and 18 cases of appendiceal mucinous adenocarcinoma),2 cases were diagnosed as appendicitis,4 cases with unknown pathologic diagnosis.And the other 4(8％) cases,who didn't undergo appendectomy at the first operation,presented peritoneal tumor recurrence and appendiceal mucinous tumors 1,11,32 and 85 months after surgery,respectively.Parenchymal organs involved:ovarian involving was happened in 34 (71％)patients including 15 cases with the right ovary involving,13 cases in both sides,and 6 cases involving the left side.The other parenchymal organs in 10(21％) cases.(2) Prognostic factors:11 patients died,31 survived and 6 cases were lost to follow-up.The mean survival time was 99 months(ranged from 1 to 312 months).The 3-year,5-year and 10-year survival rates were 73.3％,68.0％ and 46.6％,respectively.Univariate statistical analysis showed that age,pathological type and parenchymal involvement were significantly relationship with the survival time (all P ＜ 0.05).But the operation times,appendiceal tumor type,ovarian involvement,CCR,intraperitoneal HIPEC and post-operative adjuvant chemotherapy were not significantly correlate with survival time (all P ＞ 0.05).Multivariate analysis showed that age and pathologic type were independent prognostic factors (P ＜ 0.05).Conclusions No specific clinical features presented in PMP.CRS with HIPEC should the recommended treatment.Both ovaries exploration and appendectomy should be carried out routinely in CRS.The 10-year overall survival of PMP is low.Age,pathological type and parenchymal organs involvement other than ovarian are correlated with the prognosis.And the pathological type and age are independent prognostic factors of PMP.

Objective:To analyze the clinical phenotypes and prenatal diagnosis of a pedigree with oculo-facio-cardio-dental (OFCD) syndrome.Methods:A pregnant woman at 17 gestational weeks was admitted to the Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School in 2017 for genetic counseling. Genetic tests as performed for the proband (the pregnant woman), her husband, and the induced fetus of last pregnancy genetic test and the detected variants were analyzed and verified by chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and quantitative real time-polymerase chain reaction (Q-PCR). The detection platform established by MLPA and Q-PCR technology was used to perform prenatal diagnosis of the present pregnancy. Other family members were screened for BCOR gene mutation. Related mutation types were retrieved from ClinVar database with term of " BCOR", and related literature from CNKI and PubMed with terms of "OFCD syndrome", " BCOR gene", and "oculo facio cardiac dental syndrome" to summarize the clinical manifestations, mutation type and pathogenesis of this disease. Results:The proband has congenital cataracts, long face, congenital atrial septal defect, and severe dental malformations, which were consistent with the clinical features of OFCD syndrome. WES suggested that the proband and her induced fetus were suspected of having a large submicroscopic deletion of the exons of BCOR gene, which was confirmed by CMA, MLPA and Q-PCR, with a 105 kb deletion containing BCOR exons 1-15. The amniotic fluid genetic analysis of the present pregnancy showed that the fetus has a normal female karyotype, and did not carry the same BCOR gene copy number abnormality as the proband. The child grew and normally developed without any characteristic manifestations of OFCD syndrome during follow-up. Other families of the proband did not show clinical features of OFCD syndrone, and no BCOR gene copy number abnormality was detected. A total of 35 cases of BCOR gene mutation types related to OFCD syndrome were retrieved from ClinVar database. The data analysis revealed that the differences in clinical manifestations between Lenz microphthalmos syndrome and OFCD syndrome were mainly caused by different mutation types of BCOR gene. Among the 90 retrieved cases of OFCD syndrome obtained through literature, only one case was reported in China. Analysis of these 90 cases showed that the characteristic manifestations of OFCD syndrome, involving the eye, face, heart, teeth, and skeletal system. OFCD syndrome were confirmed in the proband and her induced fetus according to the clinical manifestation and the mutation type of BCOR gene. Conclusions:The clinical manifestations of OFCD syndrome are complicated, caused by various mutation types of BCOR. Systematic molecular genetic technology can be effectively applied for gene and prenatal diagnosis of OFCD syndrome.

OBJECTIVETo carry out chromosomal microarray analysis (CMA) on four fetuses with abnormal karyotypes.

METHODSAmniotic fluid samples were obtained and subjected to routine G-banded karyotyping analysis. CMA was applied for cultured amniocytes to determine alterations of gene dosage and chromosomal breakpoints.

RESULTSAbnormal karyotypes were found in the parents of 3 fetuses. Parental karyotypes of the remaining fetus were normal. Imbalance chromosome rearrangements were revealed by CMA in all 4 cases.

CONCLUSIONCMA is an effective tool for the evaluation of clinical significance and delineation of the breakpoints involved in complex chromosomal rearrangements.

Abnormal Karyotype ; Adult ; Chromosome Banding ; Female ; Humans ; Karyotyping ; Microarray Analysis ; methods ; Pregnancy ; Prenatal Diagnosis