BRAF mutation in colorectal carcinomas with signet ring cell component
<b>Objective</b> : Signet ring cell carcinoma is a rare subtype of colorectal carcinoma (CRC) with an associated BRAFV600E mutation. We investigated frequencies of <i>BRAF</i> mutation in 28 CRCs containing variable signet ring cell component and their relation with clinicopa...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
China Anti-Cancer Association
2017-06-01
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| Series: | Cancer Biology & Medicine |
| Subjects: | |
| Online Access: | http://www.cancerbiomed.org/index.php/cocr/article/view/1050 |
| Summary: | <b>Objective</b> : Signet ring cell carcinoma is a rare subtype of colorectal carcinoma (CRC) with an associated BRAFV600E mutation. We investigated frequencies of <i>BRAF</i> mutation in 28 CRCs containing variable signet ring cell component and their relation with clinicopathologic parameters. <b>Methods</b> : According to the presence of signet ring cell component, tumors were categorized into groups as follows: 0%–9%, 10%–24%, 25%–49%, and >50%. Genomic DNA was isolated and analyzed for <i>BRAF</i> V600E gene mutation by polymerase chain reaction-restriction fragment length polymorphism. Eleven of 28 cases (39.3%) showed <i>BRAFV600E</i> mutation, which was also confirmed by Sanger sequencing. To elucidate the importance of existence of signet ring cell component at the molecular level, we separated cases into two groups with cut-off levels of 10% and 50%, which pertain to percentages of signet ring cells. <b>Results</b> : Seven of 19 cases (36.8%) under the threshold of 50% and four of nine cases (44.4%) over this threshold value demonstrated <i>BRAF</i> mutation. Three of 7 cases (42.8%) featuring <10% signet ring cell component and eight out of 21 cases (38.1%) showing >10% were <i>BRAF</i> mutated. <b>Conclusions</b> : <i>BRAF</i> mutation must be closely associated with the presence of malignant signet ring cells regardless of their percentages. |
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| ISSN: | 2095-3941 2095-3941 |