Objective To investigate the possibility and feasibility of the whole genome microarray scanning technique in clinical cytogenetic diagnosis of an uncertain karyotype and mentally retarded child. Methods The karyotype analysis of the mental development delayed child was 47, XY+mar. Genomic DNA was extracted from the peripheral blood and the whole genome microarray scanning technique was used to analyze the derivative chromosome. Results The whole genome microar-ray scanning technique indicated the derivative chromosome fragment had originated from 9p13.1-p24.3. Conclusions Com-paring to conventional cytogenetic analysis methods, the whole genome microarray scanning technique is of high resolution, high-throughput and high accuracy, which can detect the submicroscopic chromosomal aberrations and replace the conven-tional karyotype analysis.

10.3969/j.issn.1000-3606.2013.06.019

Objective To investigate the efficacy and toxicities of neoadjuvant chemoradiotherapy (neoCRT) in the management of unresectable locally advanced adherent colon cancer (LAACC).Methods A retrospective analysis was performed on the clinical records of 40 patients with initially diagnosed unresectable LAACC who received preoperative neoCRT in our center from October 2010 to December 2015.Results Thirty-nine patients completed the preoperative neoCRT.Thirty-four patients underwent radical resection after neoCRT, and the R0 resection rate, pathological complete response rate (pCR), tumor downstaging rate, nodal downstaging rate, and clinical downstaging rate were 91%, 24%(8/34patients), 76%(26/34patients),100%(32/32patients), and 94%(32/34patients), respectively.Among the 21 patients with bladder invasion, the full bladder was preserved in 7 patients (33%) and partial cystectomy was performed in 11 patients (52%).During the course of neoCRT, the grade 3-4 hematologic toxicity rate, grade 3 hand-foot syndrome rate, grade 3 radiodermatitis, and incomplete intestinal obstruction rate were 23%, 3%, 3%, and 5%, respectively.The 3-year sample size was 25 patients.For all the patients, the 3-year overall survival (OS) and progression-free survival (PFS) rates were 75% and 80%, respectively.Of the 34 patients who received surgical radical resection, the 3-year OS and disease-free survival (DFS) rates were 87% and 81%, respectively.In addition, local tumor recurrence was identified in 3 patients, and distant metastasis was identified in 6 patients.Conclusions NeoCRT is an effective treatment for unresectable LAACC that results in significant tumor downstaging and enhanced R0 resection rate without an increase in surgical complications.The patients treated with radical surgical resection after neoCRT show a satisfactory short-term outcome.Further studies will be required to determine the clinical value of neoCRT in treating LAACC.

Objective To evaluate the mid-to long-term survival benefits of preoperative sandwich-like neoadjuvant chemoradiotherapy (CRT) in patients with locally advanced rectal cancer (LARC).Methods A total of 45 LARC patients who underwent neoadjuvant sandwich CRT in the form of XELOX regimen prior to,concurrently with,and following volumetric modulated arc radiotherapy (VMAT) in 2012 were enrolled in this study.VMAT was given at a gross tumor volume dose of 50 Gy in 25 fractions,and a clinical target volume dose of 45-46 Gy in 25 fractions.Total mesorectal excision was performed 6 to 8 weeks after completion of VMAT.The overall survival (OS) and disease-free survival (DFS) were determined by the Kaplan-Meier method,and survival comparison and univariate prognostic analysis were performed using the log-rank test.Results The median follow-up time was 46.7 months.There was no local recurrence detected among the patients.The 3-year distant metastasis (DM) rate was 18%,and the 3-year OS and DFS were 96% and 84%,respectively.Univariate analysis indicated that perineural invasion,N1-N2 pathology (pathological stage Ⅲ),and Ca-199>35 U/ml before treatment were risk factors for DM (P=0.000,0.000,and 0.013,respectively).Conclusions The significant short-term efficacy of preoperative sandwich-like neoadjuvant CRT can be extended to a positive mid-term survival in LARC patients.However,further phase Ⅲ clinical studies will be needed to confirm this finding.

OBJECTIVETo explore the efficacy prediction of the locally advanced rectal cancer patients, especially those with pathological complete response(pCR), receiving neoadjuvant chemoradiotherapy in order to execute precise preoperative neoadjuvant chemoradiotherapy.

METHODSFrom January 2000 to January 2011, 125 patients diagnosed as locally advanced rectal cancer receiving preoperative neoadjuvant chemoradiotherapy in our department with complete data were enrolled in this study, including 85 males and 40 females with mean age of 54(15 to 77) years old. All the patients received radiotherapy with 46 Gy(23 times) and administered XELOX regimen (oxaliplatin 100 mg/m(2) plus capecitabine 2 000 mg/m(2)) for 2 courses simultaneously, and underwent radical operation 6 to 8 weeks after chemoradiotherapy. The data of these patients were analyzed retrospectively. Pathological remission was divided into 4 grades. Patients achieving grade 4 were defined as pCR, and those achieving above grade 2 were defined as better response. Logistic regression analysis was used to identify significant predictors of pCR.

RESULTSAmong 125 patients, 16(12.8%) achieved pCR status, and 90(72.0%) had better response to the neoadjuvant chemoradiotherapy. Logistic regression analysis showed that age(OR:1.060, P=0.037) and preoperative positive lymph nodes detected by endorectal ultrasonography (OR:0.059, P=0.006) were independent predictors of pCR after neoadjuvant chemoradiotherapy.

CONCLUSIONSPreoperative existence of lymph node metastasis around bowel indicates the poor response to neoadjuvant chemoradiotherapy. Age is associated with pCR in patients receiving neoadjuvant chemoradiotherapy.

Adolescent ; Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Capecitabine ; therapeutic use ; Chemoradiotherapy ; Deoxycytidine ; analogs & derivatives ; therapeutic use ; Female ; Fluorouracil ; analogs & derivatives ; therapeutic use ; Humans ; Lymphatic Metastasis ; Male ; Middle Aged ; Neoadjuvant Therapy ; Neoplasm Staging ; Rectal Neoplasms ; therapy ; Retrospective Studies ; Treatment Outcome ; Young Adult

OBJECTIVE: To explore the effect and precautions of setting up a genetic clinic for hereditary colorectal cancers. METHODS: To collect the information of the patients who received genetic screening and genetic counseling at our hospital from January 2016 to June 2018, and analyze the role of family history collection and follow-up management. RESULTS: The detection rate of family history of tumors has increased by 13.6%. Follow up management was carried out in 156 families with hereditary colorectal cancer confirmed by detection of germline mutations. Five cases of early colorectal cancers and 12 cases of adenomatous polyps were detected and treated. CONCLUSION To set up genetic clinic is helpful to standardize the management of high-risk population, and attention should be paid to the role of family history collection and follow-up management.
Colorectal Neoplasms/surgery* ; Genetic Counseling ; Genetic Testing/standards* ; Germ-Line Mutation ; Humans ; Risk Factors

Objective:Based on the needs of advanced nursing practice development, to establish an indicator system of role function of position of oncology genetic nurses suitable for our national condition, and to provide a basis for position establishing of nocology genetic nurses.Methods:Initial indexes were generated through the literature review and semi-structured interviews. From September to December 2022, two rounds of expert consultations and analytic hierarchy process were conducted to establish the evaluation index for role function of position of oncology genetic nurses.Results:A total of 43 experts were included in the study, the response rates of 2 rounds were 93.62%(44/47) and 97.73%(43/44), and the authority coefficients of the experts were 0.821 and 0.853. The Kendall′s coefficients of concordance for the 2 rounds of consultations were 0.100-0.150 (all P<0.01) and 0.101-0.237 (all P<0.01). Finally, the role function system of position for oncology genetic nurses was formed, which consisted of 5 first-level indexes, 17 second-level indexes and 86 third-level indexes. Conclusions:The system of role function of position for oncology genetic nurses is reasonable, scientific and reliable, professional and specific, which can provide a theoretical reference for the development of advanced nursing practice on hereditary oncology in China.

OBJECTIVETo explore clinicopathologic characteristics, surgical features and prognostic factors in patients with primary gastrointestinal lymphoma(PGIL) in order to provide evidence for optimizing surgical treatment.

METHODSClinicopathological data of 57 PGIL patients undergoing abdominal surgery in Sun Yat-sen University Cancer Center between October 1990 and January 2015 were retrospectively collected. The survival rates were compared among patients with different clinicopathologic characteristics by Kaplan-Meier method, while Cox regression model was employed to analyze the prognostic factors.

RESULTSAmong 57 patients, 43 were male and 14 were female, with a median age of 48 (range 16 to 80) years. Seventeen (29.8%) cases were classified as Musshoff I( stage, 19 (33.3%) cases as II( stage, 9 (15.8%) cases as III( stage, and 12(21.1%) cases as IIII( stage. Forty-four (77.2%) cases underwent selective operation, 13(22.8%) cases underwent emergent operation due to acute abdomen. Thirty-two(56.1%) cases had radical resection, 18 (31.6%) cases had partial resection and the rest 7(12.3%) cases failed to perform resection. Four (7.0%) cases received simple surgical operation, and 53 (93.0%) cases received comprehensive treatment, including 5(8.8%) cases with preoperative chemotherapy and surgery, 40 (70.2%) cases with surgery and postoperative chemotherapy, and 8 (14.0%) cases with surgery and perioperative chemotherapy. Stage III( and IIII( accounted for 76.9%(10/13) in patients undergoing emergent operation and accounted for 25.0%(11/44) in patients undergoing selective operation, whose difference was statistically significant (χ=9.503, P=0.002). Univariate prognostic analysis showed that T lymphocyte source pathological cell phenotype (P=0.000), clinical Musshoff stage III( and IIII((P=0.001), emergent operation (P=0.000) and incomplete tumor resection(P=0.007) had worse 5-year overall survival. Multivariate Cox regression analysis indicated that tumor pathological cell phenotype (HR=13.75, 95%CI:3.546-53.308, P=0.000) and surgical timing (HR=7.497, 95%CI:1.163-48.313, P=0.034) were independent prognostic risk factors of patients with stage I( and II(.

CONCLUSIONSSurgical operation is an important part of comprehensive treatment for PGIL. T lymphocyte source and ulcerative lymphoma indicates poorer prognosis.

OBJECTIVETo explore the clinicopathological characteristics, efficacy, and prognostic factors for patients with rectal gastrointestinal stromal tumor(GIST).

METHODSClinicopathological and follow-up data of 61 patients with rectal GIST in our department from January 1990 to October 2012 were analyzed retrospectively and pathology specimens were reviewed. Kaplan-Meier method was used to calculate the survival. Univariate analysis and multivariate analysis were performed to investigate the influencing factors of prognosis with Log-rank test and Cox regression model.

RESULTSThere were 42 male and 19 female patients with a median age of 59 years old. Eighteen cases(29.5%) were confirmed preoperatively as GIST by biopsy and 46 cases were diagnosed as GIST by first pathological examination. Fifteen cases(24.6%) were revised as GIST after re-examination of specimes among whom 14 cases had been diagnosed as leiomyoma or sarcoma, and 1 as neurolemmoma. Tumor location was above peritoneal reflection in 12 cases(19.7%) and below peritoneal reflection in 49(80.3%). Fifty-two patients underwent surgery, including 21 extended resections(lymph nodes clearance and combined organs resection simultaneously) and 31 local resections(tumor rejection or partial resection of rectal wall). Eleven patients received preoperative imatinib(400 mg/d). Forty-one cases received imatinib therapy after operation or biopsy diagnosis, including 25 cases who received palliative treatment for postoperative recurrence. Median follow-up time was 55(6 to 391) months and follow-up longer than 2 years was carried out in 46 patients. Overall survival rates of 1-, 2-, 3- , 5-year were 98%, 95.6%, 86.0% and 73.7% respectively. There were no significant differences between local resection group(96.4%, 92%, 83.3% and 77.3%) and extended resection group (100%, 94.7%, 89.50% and 82.6%)(χ(2)=0.004, P=0.947). Univariate analysis showed that survival was only associated with recurrence and metastasis (χ(2)=4.292, P=0.038). Multivariate Cox analysis showed postoperative survival was not associated with any factors(all P>0.05). The 3-year survival rate of patients with postoperative recurrence or metastasis receiving imatinib therapy was better as compared to those who did not received imatinib(82.7% vs. 71.4%).

CONCLUSIONSRectal GIST are more common in the lower rectum. Surgery is the main treatment for rectal GIST. Local complete resection is the mainstay treatment. Extensive resection and lymph node clearance may not improve survival. Imatinib can improve the prognosis of patients with recurrence or metastasis.

Benzamides ; Female ; Gastrointestinal Stromal Tumors ; therapy ; Humans ; Imatinib Mesylate ; Male ; Neoplasm Recurrence, Local ; Piperazines ; Prognosis ; Pyrimidines ; Rectal Neoplasms ; pathology ; therapy ; Retrospective Studies ; Survival Rate

Objective To investigate the prognostic value of American Joint Committee on Cancer-tumor regression grading ( AJCC-TRG) combined with ypTN stage in patients with locally advanced rectal cancer (LARC),who were treated with neoadjuvant chemoradiotherapy,and to identify the subgroups with the worst prognosis. Methods A total of 263 patients with LARC,including 176 males and 87 females,with a median age of 55 years,were admitted to Sun Yat-sen University Cancer Center from 2004 to 2012.All the patients received neoadjuvant chemoradiotherapy before surgery and underwent total mesorectal excision at 6 to 8 weeks after radiotherapy. All the surgical specimens were reevaluated according to the AJCC ( 7th edition)-TRG system and ypTN staging criteria. The prognostic prediction by TRG combined with ypTN was evaluated using survival analysis. The Kaplan-Meier method was used to calculate the rates of overall survival ( OS ) , disease-free survival ( DFS ) , local recurrence-free survival ( LRFS ) , and distant metastasis-free survival ( DMFS ) . The log-rank test was used for survival comparison and univariate prognostic analysis. Results The median follow-up was 601 months. The 5-year rates of OS, DFS, LRFS, and DMFS for all patients were 800%,750%,970%,and 810%,respectively. There were significant differences in OS, DFS,and DMFS between different ypT/TRG subgroups and different ypN/TRG subgroups (all P<005). ypT3-4/TRG 2-3 and ypN1-2/TRG 2-3 subgroups showed the worst prognosis. The 5-year rates of OS,DFS, and DMFS of the two subgroups were 669%/560%, 522%/414%, and 609%/460%, respectively. Conclusions A combination of AJCC-TRG system and ypTN staging can better predict the prognosis of LARC and identify the subgroups with the worst prognosis, which may provide a clinical guidance for postoperative individualized decision on adjuvant therapy for LARC.