OBJECTIVETo detect the somatic mutations in peritoneal mesothelioma with whole genome sequencing technique.

METHODSSurgically resected cancer and pericancerous tissue samples from one patient with peritoneal mesothelioma were obtained. The whole genome sequences of tumor tissue and pericancerous tissue were examined by the second generation sequencing technique and compared with reference sequences from human genome database.

RESULTSThere were 639 717 single nucleotide variations (Single Nucleotide Variation SNV) found in both tumor and pericancerous tissue cells; while 20 302 SNVs were unique for tumor cells and 2 185 SNVs unique for pericancerous tissue, but still 223 SNVs found in cancer and pericancerous tissue were differed from those in human genome database.

CONCLUSIONThe preliminary results indicate that merely comparing the gene sequences of cancer and pericancerous tissue samples in an individual with the human genome reference sequence can not accurately locate all somatic mutations in pathological cells. For those individualized diseases caused by random somatic mutations, it is suggested to sequence the whole genome at birth or at least to reserve a DNA sample at early age for both research and clinical needs.

Aged ; DNA Mutational Analysis ; Female ; Humans ; Mesothelioma ; genetics ; Mutation ; Peritoneal Neoplasms ; genetics ; Polymorphism, Single Nucleotide

Humans ; Mesothelioma, Malignant ; Mesothelioma/genetics* ; Peritoneal Neoplasms/genetics* ; Mutation ; AMP-Activated Protein Kinase Kinases

Peritoneal metastasis of gastric cancer serving as the most frequent form of metastasis, is one of the leading causes of death. A portion of surgically treated patients often suffer from small peritoneal residual metastasis, which will lead to recurrence and metastasis of gastric cancer patients after surgery. Given these, the prevention and treatment of peritoneal metastasis of gastric cancer deserves more attention. Molecular residual disease (MRD) refers to the molecular abnormalities of tumor origin that cannot be found by traditional imaging or other laboratory methods after treatment, but can be found by liquid biopsy, representing the possibility of tumor persistence or clinical progress. In recent years, the detection of MRD based on ctDNA has gradually become a research hotspot in the prevention and treatment of peritoneal metastasis. Our team established a new method for MRD molecular diagnosis of gastric cancer, and reviewed the research achievements in this field.
Humans ; Stomach Neoplasms/pathology* ; Peritoneal Neoplasms/secondary* ; Liquid Biopsy ; Neoplasm, Residual/genetics*

No abstract available.
Fallopian Tube Neoplasms/*genetics ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; *Genetic Testing ; Humans ; Mutation ; Ovarian Neoplasms/*genetics ; Peritoneal Neoplasms/*genetics ; Republic of Korea ; Societies, Medical

No abstract available.
Fallopian Tube Neoplasms/*genetics ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; *Genetic Testing ; Humans ; Mutation ; Ovarian Neoplasms/*genetics ; Peritoneal Neoplasms/*genetics ; Republic of Korea ; Societies, Medical

INTRODUCTIONSporadic colorectal cancers with BRAF mutations constitute two distinct subgroups of colorectal cancers. Recent studies have linked the presence of the BRAF mutation to a familial inheritance pattern. This was a proof-of-concept study that aimed to examine: (a) the extent of field change in sporadic colorectal cancers with BRAF mutation; and (b) the extent of resection margins required and the pattern of DNA mismatch repair protein loss in these tumours.

METHODSEight microsatellite instability-high tumours with positive BRAF mutation from an existing histopathological database were selected for BRAF mutation and mismatch repair protein analysis.

RESULTSAll the resection margins were negative for BRAF mutation. Three tumours had loss of MLH1 and PMS2 expressions, and five tumours had no protein loss. Six peritumoral tissues were negative and one was positive for BRAF mutation.

CONCLUSIONThe results suggest that any early field change effect is restricted to the immediate vicinity of the tumour and is not a pan-colonic phenomenon. Current guidelines on resection margins are adequate for BRAF mutation-positive colorectal cancers. Any suggestion of a hereditary link to these tumours is likely not related to germline BRAF gene mutations. The pattern of protein loss reinforces previous findings for the two subgroups of BRAF mutation-positive colorectal cancers.

Colorectal Neoplasms ; genetics ; pathology ; Female ; Humans ; Male ; Microsatellite Instability ; Mutation ; Neoplasm Metastasis ; Peritoneal Neoplasms ; pathology ; secondary ; Proto-Oncogene Proteins B-raf ; genetics ; Stomach Neoplasms ; pathology ; secondary

OBJECTIVETo detect the expression of the protein of TGF-beta1 and E-cadherin in the primary and metastatic lesions of ovarian carcinoma and explore the mechanism of the metastasis of ovarian carcinoma.

METHODSImmunohistochemistry (IHC) was performed to detect the expression of TGF-beta1 and E-cadherin proteins in primary and metastatic ovarian carcinoma, benign epithelial ovarian tumor and normal ovarian tissue.

RESULTSThe expression of TGF-beta1 was significantly higher in ovarian carcinoma (67.2%) than in benign tumors (28.6%) and normal ovarian tissue (18.9%) (Chi2=26.94, P<0.001), but E-cadherin expression showed a reverse pattern. TGF-beta1 expression in the primary ovarian carcinoma carcinoma was associated with the FIGO stage, lymph metastasis and ascites of the tumor (P=0.01, P=0.01, and P=0.04, respectively). E-cadherin expression in the tumor was associated with the differentiation (P=0.02) and lymph metastasis of ovarian carcinoma (P=0.04). The expressions of TGF-beta1 and E-cadherin were all significantly lower in the primary tumors than in the metastatic tumor (Chi2=4.70, P=0.03; Chi2=5.91, P=0.015). A significant correlation was found between the expressions of the TGF-beta1 and E-cadherin in the primary carcinoma (Kappa value of -0.32, P=0.01).

CONCLUSIONTGF-beta1 and E-cadherin are closely associated with the metastasis of ovarian carcinoma and might be potential targets for controlling the metastasis of ovarian carcinoma.

Adult ; Cadherins ; genetics ; metabolism ; Female ; Humans ; Lymphatic Metastasis ; Middle Aged ; Neoplasm Metastasis ; Ovarian Neoplasms ; metabolism ; pathology ; Peritoneal Neoplasms ; metabolism ; secondary ; Transforming Growth Factor beta1 ; genetics ; metabolism

OBJECTIVETo investigate the expression of IFITM3 in colorectal carcinoma and its clinical significance.

METHODS213 patients with colon ademocarcinoma and 214 patients with colon adenoma treated by surgery in our hospital from March 2008 to June 2010 were included in this study. The levels of IFITM3 in normal colon nucosa, adenoma, and adenocarcinoma tissues were detected by real-time PCR and immunochemistry, and its relationship with metastasis and prognosis in 213 colorectal cancer patients was analyzed.

RESULTSThe IFITM3 mRNA level in metastatic tumor group was 18.37 ± 0.61, significantly higher than that in the normal 4.49 ± 0.69 and non-metastases groups (7.32 ± 0.76; F = 460.380, P < 0.001). The positive rate of IFITM3 protein expression in metastatic tumor group (69.0%) was significantly higher than that in the normal (3.9%), non-metastasies groups (19.0%) and adenoma groups (11.3%). Our clinical analysis confirmed that the IFITM3 expression was associated with peritumoral invasion, hepatic metastases, metastases of para-colonic lymph nodes, mesocolonic lymph nodes and mesenteric root lymph nodes, omental metastasis and AJCC classification (P < 0.05). Furthermore, the survival curve analysis showed that patients with lower IFITM3 level expression had a higher 5-year survival rate (88.8%) than that in the patients with higher expression (40.2%, P < 0.001).

CONCLUSIONSIFITM3 expression has a positive correlation with metastasis and prognosis in patients with colorectal carcinoma.

Adenocarcinoma ; diagnosis ; metabolism ; Adenoma ; Colorectal Neoplasms ; diagnosis ; metabolism ; Humans ; Liver Neoplasms ; metabolism ; Membrane Proteins ; genetics ; metabolism ; Neoplasms ; Peritoneal Neoplasms ; Prognosis ; RNA, Messenger ; RNA-Binding Proteins ; genetics ; metabolism ; Real-Time Polymerase Chain Reaction ; Survival Analysis ; Survival Rate

OBJECTIVETo explore the clinicopathological, immunohistochemical and molecular genetic features of intra-abdomen extra-gastrointestinal stromal tumors (EGISTs) and their differential diagnosis.

METHODSNine cases of EGISTs from the abdominal cavity or retroperitoneum which were previously diagnosed as leiomyoma, leiomyoblastoma, or leiomyosarcoma etc. by a panel of antibodies such as CD117, CD34, alpha-SMA, MSA, desmin, S-100, and PGP9.5 from which five cases were detected for c-kit gene mutation.

RESULTSThe tumors occurred in 5 men and 4 women, the age ranged from 38 to 72 years (mean 61.7 years). Four cases arose from the mesentery, two from omentum, two from retroperitoneum and one located at the hilus of the spleen. The size of tumors ranged from 5 cm to 23 cm (mean 12.9 cm) in diameter and the tumor cell components varied: mainly spindle cells (seven cases), epithelioid cells (one case), mixed cells (one case). Tumors expressed CD117 (8/9), CD34 (5/9), alpha-SMA (3/9), MSA (4/9), desmin (0), S-100 protein (1/9) and PGP9.5 (1/9). Of the five cases examined for heterozygous deletion mutation of 11 exon of the c-kit gene two were found positive. Two borderline cases showed long-term survival of 8 years and 11 years, respectively. In seven malignant cases, two showed adverse outcome, one survived 4 years without recurrence, two were lost in follow up and two new cases were still being in followed.

CONCLUSIONSGIST-type stromal tumors can also occur in the abdomen, most cases were borderline or malignant, tumor coagulative necrosis, mitoses >or= 5 per 50 high-power fields and obvious nuclear atypia indicating malignancy. Differential diagnosis of EGIST including benign or malignant smooth muscle tumors, benign or malignant nerve sheath tumors etc.

Adult ; Aged ; Diagnosis, Differential ; Female ; Humans ; Immunohistochemistry ; Leiomyoma ; pathology ; Leiomyosarcoma ; pathology ; Male ; Middle Aged ; Peritoneal Neoplasms ; chemistry ; genetics ; pathology ; Proto-Oncogene Proteins c-kit ; genetics ; Retroperitoneal Neoplasms ; chemistry ; genetics ; pathology

OBJECTIVETo screen genes related to peritoneal metastasis of colorectal cancer.

METHODSSpecimens of primary cancer and normal mucosa tissues were collected from 3 patients with peritoneal metastasis of colorectal cancer. The total RNA were extracted and inversely transcribed into cDNA to synthesize aRNA using in vitro RNA synthesis. The synthesized aRNA, after labeling with Cy3, were hybridized with the whole human genome oligo microarray. The Empirical Bayes method was used to screen the differentially expressed genes, followed by confirmation of the selected genes by semi-quantitative RT-PCR.

RESULTSWith a threshold of P≤0.05, a total of 105 differentially expressed genes were identified in primary cancer lesions, including 42 up-regulated and 63 down-regulated genes. Three of the up-regulated genes (S100P, PRDX1 and SLPI) were selected and confirmed by RT-PCR, which yielded results consistent with those from gene microarray.

CONCLUSIONGene microarray technique can provide valuable clues for locating the tumor markers of peritoneal metastasis in colorectal cancer patients.

Adenocarcinoma ; genetics ; secondary ; Adenocarcinoma, Mucinous ; genetics ; secondary ; Adult ; Aged ; Calcium-Binding Proteins ; genetics ; metabolism ; Colorectal Neoplasms ; genetics ; pathology ; Female ; Gene Expression Profiling ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Neoplasm Proteins ; genetics ; metabolism ; Oligonucleotide Array Sequence Analysis ; methods ; Peritoneal Neoplasms ; genetics ; secondary ; Peroxiredoxins ; genetics ; metabolism ; Secretory Leukocyte Peptidase Inhibitor ; genetics ; metabolism