Abstract：
BACKGROUND:Microsatellite-unstable colorectal cancers (CRC) that are due to deficient DNA mismatch repair (dMMR) represent approximately 15% of all CRCs in the United States. These microsatellite-unstable CRCs represent a heterogenous group of diseases with distinct oncogenesis pathways. There are overlapping clinicopathologic features between some of these groups, but many important differences are present. Therefore, determination of the etiology for the dMMR is vital for proper patient management and follow-up. MAIN BODY:Epigenetic inactivation of MLH1 MMR gene (sporadic microsatellite-unstable CRC) and germline mutation in an MMR gene (Lynch syndrome, LS) are the two most common mechanisms in the pathogenesis of microsatellite instability in CRC. However, in a subset of dMMR CRC cases that are identified by screening tests, no known LS-associated genetic alterations are appreciated by current genetic analysis. When the etiology for dMMR is unclear, it leads to patient anxiety and creates challenges for clinical management. CONCLUSION:It is critical to distinguish LS patients from other patients with tumors due to dMMR, so that the proper screening protocol can be employed for the patients and their families, with the goal to save lives while avoiding unnecessary anxiety and costs. This review summarizes the major pathogenesis pathways of dMMR CRCs, their clinicopathologic features, and practical screening suggestions. In addition, we include frequently asked questions for MMR immunohistochemistry interpretation.
journal_name
Diagn Patholjournal_title
Diagnostic pathologyauthors
Chen W,Swanson BJ,Frankel WLdoi
10.1186/s13000-017-0613-8subject
Has Abstractpub_date
2017-03-04 00:00:00pages
24issue
1issn
1746-1596pii
10.1186/s13000-017-0613-8journal_volume
12pub_type
杂志文章,评审abstract：:Tumours of ovarian-epithelial type of the testis, including serous borderline tumours, represent very rare entities. They are identical to the surface epithelial tumours of the ovary and have been reported in patients from 14 to 68 years of age. We describe two cases of a 46- and a 39-year old man with incidental find...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/s13000-015-0342-9
更新日期：2015-07-22 00:00:00
abstract：BACKGROUND:A number of studies have examined the association between interleukin-6 (IL-6) rs1800796 polymorphism and risk of lung cancer but revealed inconsistent results. The aim of this study was to clarify the association between IL-6 rs1800796 polymorphism and risk of lung cancer. METHODS:Literature databases incl...
journal_title：Diagnostic pathology
pub_type： 杂志文章,meta分析
doi：10.1186/1746-1596-9-134
更新日期：2014-07-01 00:00:00
abstract：BACKGROUND:Several studies reported the dysregulation of miR-541 in the progression of some human malignancies. Osteosarcoma (OS) is one of the most common primary malignant bone tumors. This study aimed to assess the expression and clinical significance of miR-541 in OS patients and explore the biological function of ...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/s13000-020-01008-9
更新日期：2020-07-24 00:00:00
abstract：:A 42-year-old male presented right upper abdomen pain for more than 6 days, which misdiagnose calculus of intrahepatic duct and acute cholecystitis. An approximately 1.5 cm x 1.0 cm x 1.0 cm nodule was found and resected in left lateral lobe of hepatic. Pathological examination showed spindle cell and fibroblast -like...
journal_title：Diagnostic pathology
pub_type： 杂志文章,评审
doi：10.1186/1746-1596-8-195
更新日期：2013-12-02 00:00:00
abstract：BACKGROUND:ABCG2 is an ABC transporter. It has been demonstrated that endogenous ABCG2 expression in certain cancers is a possible reflection of the differentiated phenotype of the cell of origin and likely contributes to intrinsic drug resistance. But little is known about the contribution of ABCG2 to the drug resista...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-6-90
更新日期：2011-09-27 00:00:00
abstract：BACKGROUND:We examined the vascularity of mammary Paget disease histologically to confirm the increased blood flow observed previously by clinical imaging. The relationships among blood vessel density (BVD), histopathological parameters of blood flow in the nipple, and the expression of angiogenic factors such as basic...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/s13000-020-00988-y
更新日期：2020-06-11 00:00:00
abstract：:Non-necrotizing epithelioid granulomas have been described in association with many primary tumors. In such cases, they are designated as sarcoid-like reaction. Although it is more seen in carcinomas than in sarcomas, it is very rarely reported in renal carcinoma. Here, we describe a rare association of prominent peri...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-7-28
更新日期：2012-03-18 00:00:00
abstract：BACKGROUND:Rapid ("warm") autopsies of patients with advanced metastatic cancer provide important insight into the natural history, pathobiology and histomorphology of disease in treatment-resistant tumors. Plasmacytoid urothelial carcinoma (PUC) is a rare variant of urothelial carcinoma characterized by neoplastic cel...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/s13000-019-0896-z
更新日期：2019-10-21 00:00:00
abstract：BACKGROUND:In recent years, a battery-powered bone marrow biopsy system was developed and cleared by the U.S. Food and Drug Administration to allow health care providers to access the bone marrow space quickly and efficiently. A multicenter randomized clinical trial was designed for adult patients to determine if the p...
journal_title：Diagnostic pathology
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1186/1746-1596-6-23
更新日期：2011-03-23 00:00:00
abstract：BACKGROUND:Glomus tumors typically occur in the subcutaneous tissue of distal extremities, but rarely in visceral organs. Most glomus tumors are benign, while others have been reported to have malignant potential. Herein, a unique case of a liver glomus tumor with atypical histological features is reported. CASE PRESE...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/s13000-015-0355-4
更新日期：2015-07-19 00:00:00
abstract：BACKGROUND:Special AT-rich sequence binding protein 1 (SATB1) is found acting as a "genome organizer" that functions as a landing platform to regulate tissue-specific gene ex-pression. In breast cancer cell lines it has been proven that SATB1 could upregulate the expression of the HER2. In this paper, the relevance of ...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/s13000-015-0282-4
更新日期：2015-05-09 00:00:00
abstract：BACKGROUND:To distinguish between malignant and benign lesions of the thyroid gland histological demonstration is often required since the fine-needle aspiration biopsy method applied pre-operatively has some limitations. In an attempt to improve diagnostic accuracy, markers using immunocytochemistry and immunohistoche...
journal_title：Diagnostic pathology
pub_type： 杂志文章,meta分析,评审
doi：10.1186/1746-1596-7-97
更新日期：2012-08-13 00:00:00
abstract：BACKGROUND:Somatostatin receptor 2 (SSTR2) encodes somatostatin receptor that can inhibit the cell proliferation of solid tumors. Promoter hypermethylation is likely to silence the expression of SSTR2. The goal of our study was to investigate the association between SSTR2 promoter methylation and the risk and progressi...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/s13000-016-0461-y
更新日期：2016-01-22 00:00:00
abstract：:Concurrent hematologic malignancies are relatively rare. We encountered a case of concurrent acute myeloid leukemia (AML) and T lymphoblastic lymphoma. The bone marrow chromosome analysis showed the karyotype 46, XY, t(5;12)(q33;p13), which indicated presence of PDGFRB gene translocations. Therefore, this disease belo...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-7-19
更新日期：2012-02-22 00:00:00
abstract：BACKGROUND:Metastatic spread of tumor through lymphatic vasculature is an important adverse prognostic factor in a variety of human cancer and tumor lymphangiogenesis requires the interplay of several growth factors. Platelet-derived growth factor (PDGF)-BB and vascular endothelial growth factor (VEGF)-C are two import...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-9-128
更新日期：2014-06-27 00:00:00
abstract：OBJECTIVES:This study consisted of two parts. One part was to analyze the survival rates of adenoid cystic carcinoma (ACC) in Chinese and explain the difference between our data and the literature. The other was to analyze the relationship between the expression of CD117 and the histological grade and the prognosis. M...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-7-119
更新日期：2012-09-10 00:00:00
abstract：:This review provides a comprehensive overview of the broad clinicopathologic spectrum of cutaneous Kaposi sarcoma (KS) lesions. Variants discussed include: usual KS lesions associated with disease progression (i.e. patch, plaque and nodular stage); morphologic subtypes alluded to in the older literature such as anapla...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-3-31
更新日期：2008-07-25 00:00:00
abstract：:Primary liver tumors in children are rare with malignant hepatoblastoma being the most common neoplasm. In this report, we describe the diagnosis and clinical management of a large liver tumor in a 3-year-old child that displayed the features of both, conventional hepatoblastoma and malignant teratoma. Pathological as...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-4-37
更新日期：2009-11-12 00:00:00
abstract：:A transrectal needle biopsy from a 63-year-old man was decided because of a high prostatic specific antigen in the blood, and a hard right lobe in rectal examination. 10 examples were taken from each lobe. In 1 of 4 of the examples from the left lobe, which contained a small focus of adenocarcinoma, numerous eosinophi...
journal_title：Diagnostic pathology
pub_type： 社论
doi：10.1186/1746-1596-1-26
更新日期：2006-09-07 00:00:00
abstract：BACKGROUND:World Health Organization (WHO) criteria are commonly used to diagnose plasma cell myeloma (PCM); however, these criteria are complex and require several laboratory parameters. For differentiating reactive plasmacytosis from clonal plasma cell (PC) neoplasms such as PCM, it is important to accurately determi...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-7-131
更新日期：2012-09-28 00:00:00
abstract：BACKGROUND:Although often associated with holoprosencephaly, little detail of the histopathology of cyclopia is available. Here, we describe the ocular findings in a case of trisomy 13 to better understand the histogenesis of the rosettes, or tubules, characteristic of the retinal dysplasia associated with this conditi...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-2-48
更新日期：2007-12-18 00:00:00
abstract：BACKGROUND:To quantify the effect of cruciferous vegetable consumption on the incidence of ovarian cancer by meta-analyzing the existing observational studies and provides quantitative and high-level evidence. METHODS:A detailed literature search of Medline and EMBASE for all relevant papers published. A meta-analysis...
journal_title：Diagnostic pathology
pub_type： 杂志文章,meta分析
doi：10.1186/1746-1596-9-7
更新日期：2014-01-20 00:00:00
abstract：UNLABELLED:The differential diagnosis between idiopathic nonspecific interstitial pneumonia(INSIP) and idiopathic pulmonary fibrosis(IPF)/usual interstitial pneumonia(UIP)is tough in both clinicians and pathologists. In this study, we analyzed the lesions of right lung removed from a 58-year-old patient by gross and mi...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-7-167
更新日期：2012-12-03 00:00:00
abstract：BACKGROUND:The feasibility of evaluating an objective grading of cervical intraneoplasia lesions (CIN) is attempted using an automatic computerized system able to measure several valuable parameters with special reference to epithelium differentiation. METHODS:4 groups of 10 images each were selected at random from 68...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-5-7
更新日期：2010-01-22 00:00:00
abstract：OBJECTIVE:FNA is a simple, safe, cost-effective and accurate diagnostic tool for the initial screening of patients with thyroid nodules. The aims of this study were to determine the diagnostic utility of FNAC performed in our institution, assess the cytomorphologic features that contribute to diagnostic errors and prop...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/s13000-019-0924-z
更新日期：2020-01-03 00:00:00
abstract：BACKGROUND:Extra-adrenal paraganglioma of the retroperitoneum with metastasis to the vertebra is very rare. To our knowledge this is the first report of this kind of disease in the literature. CASE PRESENTATION:Here, we present an oroginal case of paraganglioma of the retroperitoneum with metastasis to the abdominal v...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-8-52
更新日期：2013-03-28 00:00:00
abstract：BACKGROUND:Human papillomavirus-associated oropharyngeal carcinoma (HPV-OPC) is clinicopathologically distinct entity from the HPV-unassociated one (nHPV-OPC). This study aimed to determine the relationship between histological subtypes of OPC and HPV status for Japanese cases and to identify histological structures of...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-8-211
更新日期：2013-12-19 00:00:00
abstract：BACKGROUND:The presence of histologically different neoplasms in the same organ is rare in pathologic practice. We report the first case of synchronous clear cell renal cell carcinoma (clear cell RCC) and papillary renal neoplasm with reverse polarity (PRNRP) with comprehensive immunohistochemical and molecular charact...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/s13000-020-01042-7
更新日期：2020-10-06 00:00:00
abstract：BACKGROUND:The Eastern Quebec Telepathology Network (called Réseau de Télépathologie de l'Est du Québec in French) was created to provide uniform diagnostic telepathology services in a huge territory with low population density. We report our first 3-year experience. METHODS:The network was funded equally by the Québe...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-9-S1-S1
更新日期：2014-01-01 00:00:00
abstract：BACKGROUND:Maspin is a unique member of the serine protease inhibitor superfamily and its expression is found in myoepithelial cells of normal mammary glands; therefore, it has been considered to be a myoepithelial marker. We previously reported that maspin was frequently expressed in biologically aggressive breast can...
journal_title：Diagnostic pathology
pub_type： 杂志文章
doi：10.1186/1746-1596-6-36
更新日期：2011-04-16 00:00:00
