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Objective@#To investigate MAML2 gene-translocation in primary pulmonary mucoepidermoid carcinoma (PMEC) and pulmanary adenosquamous carcinoma, and the optimal diagnostic immunohistiochemical (IHC) panel in distinguishing PMEC from adenosqumous carcinoma.@*Methods@#Twenty-four cases of PMEC and 44 adenosqumous carcinoma diagnosed in the Guangdong General Hospital were tested for MAML2 translocation by fluorescent in-situ hybridization (FISH) using tissue array. An IHC panel including TTF1, Napsin A, CK5/6, p63, p40 and Ki-67 was performed on the cohort. The clinical data for all cases were collected and all PMEC patients had follow-up information.@*Results@#The patients′ age ranged form 6 to 73 years, with a median age of 32 years. The male to female ratio was 1.4∶1.0. MAML2 translocation was found in 16/24 (66.7%) cases of PMEC whereas all 44 cases adenosqumous carcinoma were negative for translocation. All the cases of the PMEC were negative for TTF1 and Napsin A but positive for CK5/6, p63 and p40 in the intermediate cells and epidermal-like cells. In most PMEC cases, the Ki-67 expression index was lower than 10%. In contrast, most cases of adenosqumous carcinomas expressed TTF1 and Napsin A in the adenomatous component and CK5/6, p63 and p40 in the squamous component, which expression pattern was different from that of PMEC. Based on IHC staining, 2 cases of highly invasive ALK-positive adenocarcinoma mimicing PMEC were also found in the study.@*Conclusions@#MAML2 gene translocation can be detected in about two-third of PMEC. Translocation of MAML2 gene and lower morphology grading are associated with good prognosis. The combined use of IHC antibodies panel is helpful to distinguish PMEC from the adenosqumous carcinoma and adenocarcinoma mimicing PMEC.
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Objective@#To evaluate the application of FISH testing of bcl-2/IgH gene translocation and IgH/L gene rearrangement in different stages of follicular lymphoma.@*Methods@#In 32 follicular lymphoma cases, which were collected at Guangdong General Hospital from September 2014 to December 2016, the bcl-2/IgH gene ectopic state was detected by FISH while the IgH/L gene rearrangement was tested using PCR-GeneScan to analyze the relationship between bcl-2/IgH gene translocation, different stages of follicular lymphoma and clonal immunoglobulin (IgH/L) gene rearrangements.@*Results@#From the paraffin sections of all 32 follicular lymphomas, 17 cases showed bcl-2/IgH gene translocation, and the percentages of FL1, FL2 and FL3 translocation were 12/13, 3/5 and 2/14, respectively. Among the 24 cases of IgH/L gene arrangements identified from the total sample, the occurrence rates of FL1, FL2 and FL3 gene arrangement were 7/13, 4/5 and 13/14, respectively. Spearman′s rank correlation analysis and χ2 analysis showed that bcl-2/IgH gene translocation was negatively correlated with follicular lymphoma stage and the association was statistically significant. In more advanced stages of follicular lymphoma, the occurrence of bcl-2/IgH gene translocation tended to decrease with distinct FL1, FL2 and Fl3 gene expression (P<0.05). As IgH/L gene rearrangement in FL3 was higher than that in FL1 and FL2, its detection may be complimentary to FISH test for bcl-2/IgH gene translocation in diagnosing follicular lymphoma.@*Conclusions@#The combined use of FISH and PCR-GeneScan increases the positive rate of follicular lymphoma diagnosis, and this combination is more sensitive than FISH or clonal analysis only to detect the chromosomal abnormality or the gene rearrangement.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate mutations frequencies of KRAS,NRAS and BRAF genes in colorectal carcinoma.</p><p><b>METHODS</b>Tissue specimens from 200 colorectal cancer patients at diagnosis were collected and subject to KRAS,NRAS and BRAF mutation analyses by PCR-based direct DNA sequencing targeting exons 2, 3 and 4 of KRAS gene, exons 2, 3 and 4 of NRAS gene and exon 15 of BRAF gene.</p><p><b>RESULTS</b>Activating mutations were detected in KRAS (44%, 88/200), NRAS (2%, 4/200) and BRAF (5%, 10/200) in this study cohort.Among KRAS mutations, 64.8% (57/88) occurred in codon 12 and 12.5% (11/88) occurred in codon 13. KRAS gene mutation in exon 3 mainly involved codons 59 and 61. KRAS gene mutation in exon 4 mainly involved codons 117 and 146.</p><p><b>CONCLUSIONS</b>Mutations at exon 2 of KRAS gene have the highest frequency in colorectal carcinoma. Expanding the detection sites of KRAS gene combined with NRAS and BRAF genes may help to identify patients who will most likely benefit from targeted therapies.</p>
Subject(s)
Female , Humans , Base Sequence , Codon , Colorectal Neoplasms , Genetics , DNA Mutational Analysis , Exons , Genes, ras , Mutation , Proto-Oncogene Proteins , Proto-Oncogene Proteins B-raf , Genetics , Sequence Analysis, DNAABSTRACT
<p><b>OBJECTIVE</b>To evaluate the diagnostic value of serum miR-103 for breast cancer and its correlation to the clinicopathological features of the patients.</p><p><b>METHODS</b>We collected the serum samples and corresponding formalin-fixed paraffin-embedded (FFPE) surgical specimens from 50 breast cancer patients, using the serum samples from 50 healthy women as the control. The total RNA was extracted from the samples for quantitative analysis of miR-103 using real-time RT-PCR.</p><p><b>RESULTS</b>The serum levels of miR-103 expression were significantly higher in the cancer patients than in the healthy control group (P<0.01). In the cancer patients, high miR-103 expression was significantly correlated to advanced clinical stage (P<0.05) and lymph node metastasis (P<0.05). miR-103 showed a receiver operating characteristic (ROC) curve area of 84.3%, and a sensitivity of 84% and a specificity of 70% in discriminating breast cancer patients from the control subjects.</p><p><b>CONCLUSION</b>Serum miR-103 can serve as a potential diagnostic marker for breast cancer and provides useful information of the clinicopathological features of the patients.</p>