联合检测MLH1, MSH2, PMS2 和 MSH6 可用于Lynch syndrome（遗传性非息肉性结肠癌）的筛查。
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MSH2 and disease
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Lynch syndrome, hereditary non-polyposis colon cancer (HNPCC)
- Autosomal dominant
- Early age of onset
- Familial predisposition
- Colorectal carcinoma, gynecological and urological malignancies
- Molecular definition is based on germline mutation in one of the 4 major genes forming MMR system, 40% is caused by MSH2
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Diagnosis by
- Amsterdam criteria (Gastroenterology 1999;116:1453)
- Bethesda Guidelines / US National Cancer Institute (J Natl Cancer Inst 1997;89:1758)
- Revised Bethesda Guidelines (J Natl Cancer Inst 2004;96:261)
- Jerusalem criteria, recommending that either MMR IHC or MSI testing be carried out on every colorectal tumor if the patient is <70 years at diagnosis (Gastroenterology 2010;138:2197)
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Muir-Torre syndrome
- Autosomal dominant
- Sebaceous neoplasms and visceral malignancies
- Mainly caused by MSH2 mutation
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MMR defect and sporadic colorectal cancer
- 10 and 15% of sporadic colon cancers; this MSI phenotype is associated with proximal primary tumor location, high grade, mucinous pathology, early stage, females, smoking and older age at onset
- Most are thought to arise from sessile serrated adenomas or polyps
- The majority are caused by MLH1 methylation and inactivation
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公司 |
克隆号 |
即用型（ml） |
原液（ml） |
||||
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基因科技 |
25D12 |
/ |
2 |
4 |
7 |
/ |
0.2 |
|
赛诺特 |
G219-1129 |
1 |
3 |
6 |
/ |
0.1 |
0.2 |
|
中杉金桥 |
RED2 |
1.5 |
3 |
6 |
/ |
0.1 |
0.2 |
|
安必平 |
G219-1129 |
1.5 |
3 |
6 |
/ |
0.1 |
0.2 |
|
福建迈新 |
25D12 |
1.5 |
3 |
6 |
/ |
/ |
0.2 |
|
百凌生物 |
BPM6143 |
1.5 |
/ |
/ |
7 |
0.1 |
1.0 |
几乎全部阳性（≥95%的病例阳性）：
卵巢子宫内膜样癌、恶性黑色素瘤、鼻窦腺癌，肠型、壶腹腺癌，肠型、透明细胞肾细胞癌、梭形和上皮样细胞痣、皮脂腺上皮瘤、壶腹腺癌，胰胆管型、卵巢透明细胞癌、子宫内膜浆液性癌、壶腹腺瘤、十二指肠腺瘤，非壶腹部、胃腺癌、壶腹癌、锯齿状腺瘤、胰腺导管腺癌通常阳性（<95%，≥75%的病例阳性）：
结直肠腺癌、腺泡状软组织肉瘤、子宫癌肉瘤、子宫内膜透明细胞癌、子宫内膜腺癌、小肠腺癌、结直肠淋巴上皮瘤样癌、结直肠腺癌，家族息肉病相关经常阳性（<75%，≥55%的病例阳性）：
皮脂腺腺癌、恶性混合性苗勒管肿瘤，间质成分、恶性混合性苗勒管肿瘤，上皮成分有时阳性（<55%，≥35%的病例阳性）：
皮脂腺腺瘤少数阳性（<35%，≥15%的病例阳性）：
结直肠黏液性腺癌几乎全部阴性（<5%的病例阳性）：
食管未分化癌
