Abstract:
BACKGROUND:Identification of predictive molecular alterations in lung adenocarcinoma is essential for accurate therapeutic decisions. Although several molecular approaches are available, a number of issues, including tumor heterogeneity, frequent material scarcity, and the large number of loci to be investigated, must be taken into account in selecting the most appropriate technique. MALDI-TOF mass spectrometry (MS), which allows multiplexed genotyping, has been adopted in routine diagnostics as a sensitive, reliable, fast, and cost-effective method. Our aim was to test the reliability of this approach in detecting targetable mutations in non-small cell lung cancer (NSCLC). In addition, we also analyzed low-quality samples, such as cytologic specimens, that often, are the unique source of starting material in lung cancer cases, to test the sensitivity of the system. METHODS:We designed a MS-based assay for testing 158 mutations in the EGFR, KRAS, BRAF, ALK, PIK3CA, ERBB2, DDR2, AKT, and MEK1 genes and applied it to 92 NSCLC specimens and 13 liquid biopsies from another subset of NSCLC patients. We also tested the sensitivity of the method to distinguish low represented mutations using serial dilutions of mutated DNA. RESULTS:Our panel is able to detect the most common NSCLC mutations and the frequency of the mutations observed in our cohort was comparable to literature data. The assay identifies mutated alleles at frequencies of 2.5-10%. In addition, we found that the amount of DNA template was irrelevant to efficiently uncover mutated alleles present at high frequency. However, when using less than 10 ng of DNA, the assay can detect mutations present in at least 10% of the alleles. Finally, using MS and a commercial kit for RT-PCR we tested liquid biopsy from 13 patients with identified mutations in cancers and detected the mutations in 4 (MS) and in 5 samples (RT-PCR). CONCLUSIONS:MS is a powerful method for the routine predictive tests of lung cancer also using low quality and scant tissues. Finally, after appropriate validation and improvement, MS could represent a promising and cost-effective strategy for monitoring the presence and percentage of the mutations also in non-invasive sampling.
journal_name
Diagn Patholjournal_title
Diagnostic pathologyauthors
Bonaparte E,Pesenti C,Fontana L,Falcone R,Paganini L,Marzorati A,Ferrero S,Nosotti M,Mendogni P,Bareggi C,Sirchia SM,Tabano S,Bosari S,Miozzo Mdoi
10.1186/s13000-017-0683-7subject
Has Abstractpub_date
2018-01-12 00:00:00pages
4issue
1issn
1746-1596pii
10.1186/s13000-017-0683-7journal_volume
13pub_type
杂志文章abstract:BACKGROUND:A recently published transcript set is suitable for gene expression-based discrimination of normal colonic and colorectal cancer (CRC) biopsy samples. Our aim was to test the discriminatory power of the CRC-specific transcript set on independent biopsies and on formalin-fixed, paraffin-embedded (FFPE) tissue...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0363-4
更新日期:2015-07-25 00:00:00
abstract:BACKGROUND:Tubular adenoma of the breast is a rare benign epithelial tumor and only a few literatures have been reported; so far, no cases of tubular adenoma occurred in the accessory breast have been reported in the English literature. Clinical presentation and management of our patient are discussed along with a revi...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0286-0
更新日期:2015-06-04 00:00:00
abstract::Cellular Angiofibroma (CA) represents a quite recently described mesenchymal tumour that occurs in both genders, in particular in the vulvo-vaginal region in women and in the inguino-scrotal area in men. The first description of this tumour dates from Nucci et al. article in 1997; since then, the literature reports di...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/s13000-015-0361-6
更新日期:2015-07-19 00:00:00
abstract:BACKGROUND:Hypermethylation of the promoter region of the RAS association domain family 1A gene (RASSF1A) occurs widely in hepatocellular carcinoma (HCC) tissues. While the diagnostic performance of the use of RASSF1A methylation as a serum or plasma marker in patients with HCC has varied largely in the literature,we c...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0317-x
更新日期:2015-08-04 00:00:00
abstract:BACKGROUND:Rhabdoid colorectal tumor (RCT) is a rare, highly aggressive neoplasm recurrent in elderly patients, commonly at the caecum. The molecular mechanisms underlying RCT pathogenesis remain poorly elucidated. The differential diagnosis is with the malignant rhabdoid tumors of infancy characterized by genetic inac...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-8-31
更新日期:2013-02-20 00:00:00
abstract:BACKGROUND:This study is to investigate the expression of progranulin (PGRN) in systemic lupus erythematosus (SLE) patients and the effect of glucocorticoid (GC) treatment on its expression. METHODS:Thirty newly diagnosed severe SLE patients and 30 healthy subjects were enrolled in this study. The serum levels of PGRN...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-8-88
更新日期:2013-05-23 00:00:00
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 clinicopa...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/s13000-017-0613-8
更新日期:2017-03-04 00:00:00
abstract:BACKGROUND:c-MET is an oncogene protein that plays important role in gastric carcinogenesis and has been introduced as a prognostic marker and potential therapeutic target. The aim of this study was to evaluate the frequency of c-MET overexpression and its relationship with clinicopathological variables in gastric canc...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-7-57
更新日期:2012-05-28 00:00:00
abstract::Primary pleural angiosarcoma is a rare and clinically aggressive tumor. Patients usually present with chest pain, dyspnea, hemoptysis and/or cough. Radiologic studies reveal diffuse pleural thickening and pleural effusion with or without mass lesion. The clinical and radiological features both resemble those of mesoth...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-6-130
更新日期:2011-12-30 00:00:00
abstract:OBJECTIVES:Non-Hodgkin's lymphoma (NHL) primarily derived from the base of the tongue, is rare. Human papillomavirus (HPV) and Epstein-Barr virus (EBV) are important aetiological risk factors for tumours of the head and neck. This study describes the clinicopathological features of NHL in the tongue base and the status...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-020-00936-w
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:Morphine has been widely used as a clinical anesthetic and analgesic. However, abuse of morphine might result in psychological and physiological dependence. Previous studies have indicated that memory mechanisms play critical roles in morphine dependence. METHODS:Morphine dependence was established in mice ...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-9-142
更新日期:2014-07-10 00:00:00
abstract:BACKGROUND:Lung adenocarcinoma with EGFR activating mutations will inevitably acquire resistance to first generation TKIs. Acquired EGFR T790M mutation causes about 50% of these resistance cases. Droplet digital PCR (ddPCR) and cobas enables quantification of T790M mutation. Whether these methods can predict clinical r...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-018-0728-6
更新日期:2018-08-13 00:00:00
abstract:BACKGROUND:To identify critical genes and biological pathways in acute lung injury (ALI), a comparative analysis of gene expression profiles of patients with ALI + sepsis compared with patients with sepsis alone were performed with bioinformatic tools. METHODS:GSE10474 was downloaded from Gene Expression Omnibus, incl...
journal_title:Diagnostic pathology
pub_type: 撤回出版物,收录出版
doi:10.1186/s13000-014-0176-x
更新日期:2014-09-26 00:00:00
abstract:BACKGROUND:The tumor transformation mechanism of a plasmacytoid urothelial carcinoma remains unexplained. We describe the case of a plasmacytoid urothelial carcinoma of the renal pelvis in which the expression of zinc finger E-box-binding homeobox 1 (ZEB1), a key nuclear transcription factor in an epithelial-mesenchyma...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-020-01043-6
更新日期:2020-10-08 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:Spontaneous isolated dissection of the superior mesenteric artery (SMA) can lead to bowel ischemia, aneurysm rupture, or even death. Studies have suggested that mechanical or hemodynamic stress on the vascular wall of the SMA may be a contributor, but its pathogenesis is unclear. CASE PRESENTATION:A 57-year...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-017-0664-x
更新日期:2017-10-16 00:00:00
abstract:BACKGROUND:The transcriptional co-activator, TAZ, is an important effector of the Hippo pathway and is critical for the development of human cancers. However, the expression and prognostic significance of TAZ in retinoblastoma is currently unclear. METHODS:TAZ expression was examined in 43 retinoblastoma samples by im...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0415-9
更新日期:2015-10-13 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::Over two million Americans are afflicted with schizophrenia, a debilitating mental health disorder with a unique symptomatic and epidemiological profile. Genomics studies have hinted towards candidate schizophrenia susceptibility chromosomal loci and genes. Modern proteomic tools, particularly mass spectrometry and ex...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-1-11
更新日期:2006-07-17 00:00:00
abstract:BACKGROUND:Integrated molecular pathology (IMP) approaches based on DNA mutational profiling accurately determine pancreatic cyst malignancy risk in patients lacking definitive diagnoses following endoscopic ultrasound imaging with fine-needle aspiration of fluid for cytology. In such cases, IMP 'low-risk' and 'high-ri...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-016-0462-x
更新日期:2016-01-20 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:Colorectal cancer (CRC) remains a major worldwide cause of cancer-related morbidity and mortality largely due to the insidious onset of the disease. The current clinical procedures utilized for disease diagnosis are invasive, unpleasant, and inconvenient. Hence, the need for simple blood tests that could be ...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-9-53
更新日期:2014-03-12 00:00:00
abstract::This study examined the effect of tissue section thickness and consistency--parameters outside the direct control of the imaging devices themselves--on WSI capture speed and image quality. Preliminary data indicates that thinner, more consistent tissue sectioning (such as those produced by automated tissue sectioning ...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-3-S1-S12
更新日期:2008-07-15 00:00:00
abstract:BACKGROUND:To investigate the therapeutic effect of p38-MAPK inhibitor, SB203580, on dry eye in a mouse model of Sjögren's syndrome (MRL/lpr mice). METHODS:18 female BALB/c mice and 44 female MRL/lpr mice were included. Mice were randomly assigned to the control or treatment group. The expression of phospho-p38 MAPK i...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/1746-1596-9-5
更新日期:2014-01-20 00:00:00
abstract::Endometriosis is a clinical entity characterized by the presence of normal endometrial mucosa abnormally implanted in locations other than the uterine cavity. Endometriosis can be either endopelvic or extrapelvic depending on the location of endometrial tissue implantation. Despite the rarity of extrapelvic endometrio...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/1746-1596-8-194
更新日期:2013-12-02 00:00:00
abstract:UNLABELLED:Imaging appearance of cyst-like changes is most frequently described in primary neuroendocrine lesions, especially pancreatic NETs.The imaging finding of a pseudocystic lesion of the liver puts in differential diagnosis many pathologies such as infectious diseases, simple biliary cysts up to biliary cystaden...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/1746-1596-8-148
更新日期:2013-09-13 00:00:00
abstract::Perivascular epithelioid cell tumor (PEComa) is a rare entity originating from mesenchymal tissue, which stains for both melanocytic and smooth muscle markers. We would like to present an unusual case of the PEComa of the mesentery which was unexpected discovery in a female patient with colonic adenocarcinoma. The tum...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0265-5
更新日期:2015-04-18 00:00:00
abstract:BACKGROUND:Esophageal cancer is one of the leading causes of cancer related deaths among the Iranians. There is still a high ratio of mortality and low 5 years survival which are related to the late onset and diagnosis. Majority of patients refer for the treatment in advanced stages of tumor progression. MAIN BODY:It ...
journal_title:Diagnostic pathology
pub_type: 杂志文章,评审
doi:10.1186/s13000-019-0875-4
更新日期:2019-08-31 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::Cutaneous apocrine carcinoma (AC) is a rare adnexal neoplasm that histologically can mimic breast carcinoma metastatic to the skin or apocrine carcinoma arising in ectopic breast tissue. As extremely rare condition, neuroendocrine differentiation may be observed in AC although its etiology and pathogenesis is still un...
journal_title:Diagnostic pathology
pub_type: 杂志文章
doi:10.1186/s13000-015-0302-4
更新日期:2015-06-10 00:00:00