Prognostic model for survival in patients with neuroendocrine carcinomas of the cervix: SEER database analysis and a single-center retrospective study.

OBJECTIVE: Neuroendocrine carcinoma of the cervix (NECC) is extremely rare in clinical practice. This study aimed to methodologically analyze the clinicopathological factors associated with NECC patients and to develop a validated survival prediction model. METHODS: A total of 535 patients diagnosed with NECC between 2004 and 2016 were identified from the Surveillance, Epidemiology and End Results (SEER) database, while 122 patients diagnosed with NECC at Yunnan Cancer Hospital (YCH) from 2006 to 2019 were also recruited. Patients from the SEER database were divided into a training cohort (n = 376) and a validation cohort (n = 159) in a 7:3 ratio for the construction and internal validation of the nomogram. External validation was performed in a cohort at YCH. The Kaplan-Meier method was used for survival analysis, the Log-rank method test was used for univariate analysis of prognostic influences, and the Cox regression model was used for multivariate analysis. RESULTS: The 3-year and 5-year overall survival (OS) rates for patients with NECC in SEER were 43.6% and 39.7%, respectively. In the training cohort, multivariate analysis showed independent prognostic factors for NECC patients including race, tumor size, distant metastasis, stage, and chemotherapy (p<0.05). For extended application in other cohorts, a nomogram including four factors without race was subsequently created. The consistency index (C-index) of the nomogram predicting survival was 0.736, which was well-validated in the validation cohorts (0.746 for the internal validation cohort and 0.765 for the external validation cohort). In both the training and validation cohorts, the 3-year survival rates predicted by the nomogram were comparable to the actual ones. We then succeeded in dividing patients with NECC into high- and low-risk groups concerning OS using the nomogram we developed. Besides, univariate analysis showed that chemotherapy ≥4 cycles may improve the OS of patients at YCH with NECC. CONCLUSION: We successfully constructed a nomogram that precisely predicts the OS for patients with NECC based on the SEER database and a large single-center retrospective cohort. The visualized and practical model can distinguish high-risk patients for recurrence and death who may benefit from clinical trials of boost therapy effectively. We also found that patients who received more than 4 cycles of chemotherapy acquired survival benefits than those who received less than 4 cycles.

Biomimetic black phosphorus nanosheets codeliver CDK9 and BRD4 inhibitors for gastric cancer targeted therapy.

Combining the BRD4 and CDK9 inhibitors can trigger the significant down-regulation of the MYC oncogene as well as anti-apoptotic genes and induce tumor cell apoptosis by synergistically impairing RNA synthesis in cancer cells. However, the lack of tumor-targeting capacity and the different pharmacokinetic curves of these two inhibitors may impair the antitumor activity of simultaneous CDK9 and BRD4 inhibition. Herein, CDK9 inhibitor (CI) and BRD4 inhibitor (BI) were codelivered by macrophage membrane-encapsulated black phosphorus nanosheets (M@BP) for the treatment of gastric cancer (GC) via the high expression of BRD4 and CDK9. BP with prominent biocompatibility exhibited a high drug loading efficiency for both CI and BI and could efficiently decrease the expression of the MYC oncogene. More importantly, BP could also serve as a phototherapy agent collaborating with CDK9 and BRD4 inhibition for GC therapy upon near-infrared (NIR) irradiation. Furthermore, the introduction of a macrophage membrane endowed BP with tumor-targeting ability, which could simultaneously deliver CI and BI to tumor tissues. In a murine orthotopic GC model, M@BP could efficiently target and accumulate in the tumor tissues, exhibiting an excellent photothermal effect. The tumor growth monitoring demonstrated that the combination of CI and BI codelivered by M@BP significantly inhibited the tumor progress than the single inhibitors, and the inhibition effect could be further enhanced upon NIR irradiation. Taken together, M@BP with tumor-targeting capacity and high drug loading efficiency for CI and BI could efficiently block the activation of CDK9 and BRD4, exhibiting excellent antitumor activity under NIR irradiation without systemic toxicity in an orthotopic GC model.

The prognosis of patients with small cell carcinoma of the cervix: a retrospective study of the SEER database and a Chinese multicentre registry.

BACKGROUND: Small cell carcinoma of the cervix is a rare but poor prognosis pathological type of cervical cancer, for which advice in clinical guidelines is unspecific. We therefore aimed to investigate the factors and treatment methods that affect the prognosis of patients with small cell carcinoma of the cervix. METHODS: In this retrospective study, we collected data from the Surveillance, Epidemiology, and End Results (SEER) 18 registries cohort and a Chinese multi-institutional registry. The SEER cohort included females diagnosed with small cell carcinoma of the cervix between Jan 1, 2000, and Dec 31, 2018, whereas the Chinese cohort included women diagnosed between Jun 1, 2006, and April 30, 2022. In both cohorts, eligibility was limited to female patients older than 20 years with a confirmed diagnosis of small cell carcinoma of the cervix. Participants who were lost to follow-up or those for whom small cell carcinoma of the cervix was not the primary malignant tumour were excluded from the multi-institutional registry, and those with an unknown surgery status (in addition to those for whom small cell carcinoma of the cervix was not the primary malignant tumour) were excluded from the SEER data. The primary outcome of this study was overall survival (length of time from the date of first diagnosis until the date of death from any cause, or the last follow-up). Kaplan-Meier analysis, propensity score matching, and Cox-regression analyses were used to assess treatment outcomes and risk factors. FINDINGS: 1288 participants were included in the study; 610 in the SEER cohort and 678 in the Chinese cohort. Both univariable and multivariable Cox regression analysis (SEER hazard ratio [HR] 0·65 [95% CI 0·48-0·88], p=0·0058; China HR 0·53 [0·37-0·76], p=0·0005) showed that surgery was associated with a better prognosis. In subgroup analyses, surgery remained a protective factor for patients with locally advanced disease in both cohorts (SEER HR 0·61 [95% CI 0·39-0·94], p=0·024; China HR 0·59 [0·37-0·95]; p=0·029). Furthermore, the protective effect of surgery was observed among patients with locally advanced disease after propensity score matching in the SEER cohort (HR 0·52 [95% CI 0·32-0·84]; p=0·0077). In the China registry, surgery was associated with better outcomes in patients with stage IB3-IIA2 cancer (HR 0·17 [95% CI 0·05-0·50]; p=0·0015). INTERPRETATION: This study provides evidence that surgery improves outcomes of patients with small cell carcinoma of the cervix. Although guidelines recommend non-surgical methods as first-line treatment, patients with locally advanced disease or stage IB3-IIA2 cancer might benefit from surgery. FUNDING: The National Key R&D Program of China and the National Natural Science Foundation of China.

Peripheral blood lymphocytes differentiation patterns in responses / outcomes to immune checkpoint blockade therapies in non-small cell lung cancer: a retrospective study.

OBJECTIVES: Programmed Cell Death-1/ Programmed Death-ligand 1 (PD-1 / PD-L1) inhibitor therapies targeting immunocytes induce persistent tumor remission in various cancers. However, the appropriate biomarkers for the therapeutic efficacy of PD-L1 and PD-1 blockade remain elusive. MATERIALS AND METHODS: For a comprehensive analysis of peri-treatment lymphocyte differentiation, in the current study, we enrolled 146 non-small cell lung cancer patients who received α-PD-1 therapies for exploring the peripheral blood lymphocyte differentiation pattern at baseline and post-treatment (dynamic changes) by flow cytometry. RESULTS: At baseline, CD4+ / CD8+ T cell ratio predicts good responses and outcomes, but activated T cell and cytotoxic T cell counts predict poor responses and outcomes. And for dynamic changes, after 6 weeks of immune checkpoint blockade (ICB) treatment, compared with baseline level, the elevation of total T and B cell counts indicate poor responses, and total T and TH cell counts indicate poor prognosis while activated T cell predicts good prognosis. And after 12 weeks, elevated total lymphocyte, cytotoxic T cell counts, and decreased total T cell counts and CD4+ / CD8+ T cell ratio predict good responses / outcomes. Our clinical predicting model shows good performance in predicting ICB treatment responses / outcomes. CONCLUSION: Patients with favorable clinical responses / outcomes have distinctive peripheral blood immunocyte differentiation characteristics, indicating the potential of utilizing the peripheral immunocyte differentiation patterns for predicting ICB responses / outcomes.

Wastewater-Based Epidemiology for COVID-19: Handling qPCR Nondetects and Comparing Spatially Granular Wastewater and Clinical Data Trends.

Wastewater-based epidemiology (WBE) is a useful complement to clinical testing for managing COVID-19. While community-scale wastewater and clinical data frequently correlate, less is known about subcommunity relationships between the two data types. Moreover, nondetects in qPCR wastewater data are typically handled through methods known to bias results, overlooking perhaps better alternatives. We address these knowledge gaps using data collected from September 2020-June 2021 in Davis, California (USA). We hypothesize that coupling the expectation maximization (EM) algorithm with the Markov Chain Monte Carlo (MCMC) method could improve estimation of "missing" values in wastewater qPCR data. We test this hypothesis by applying EM-MCMC to city wastewater treatment plant data and comparing output to more conventional nondetect handling methods. Dissimilarities in results (i) underscore the importance of specifying nondetect handling method in reporting and (ii) suggest that using EM-MCMC may yield better agreement between community-scale clinical and wastewater data. We also present a novel framework for spatially aligning clinical data with wastewater data collected upstream of a treatment plant (i.e., distributed across a sewershed). Applying the framework to data from Davis reveals reasonable agreement between wastewater and clinical data at highly granular spatial scales-further underscoring the public-health value of WBE.

Erratum: Elevated expression of flotillin-1 is associated with lymph node metastasis and poor prognosis in early-stage cervical cancer.

[This corrects the article on p. 38 in vol. 6, PMID: 27073721.].

A model for predicting prognosis in patients with esophageal squamous cell carcinoma based on joint representation learning.

Esophageal squamous cell carcinoma (ESCC) is one of the deadliest cancer types with a poor prognosis due to the lack of symptoms in the early stages and a delayed diagnosis. The present study aimed to identify the risk factors significantly associated with prognosis and to search for novel effective diagnostic modalities for patients with early-stage ESCC. mRNA and methylation data of patients with ESCC and the corresponding clinical information were downloaded from The Cancer Genome Atlas (TCGA) database, and the representation features were screened using deep learning autoencoder. The univariate Cox regression model was used to select the prognosis-related features from the representation features. K-means clustering was used to cluster the TCGA samples. Support vector machine classifier was constructed based on the top 75 features mostly associated with the risk subgroups obtained from K-means clustering. Two ArrayExpress datasets were used to verify the reliability of the obtained risk subgroups. The differentially expressed genes and methylation genes (DEGs and DMGs) between the risk subgroups were analyzed, and pathway enrichment analysis was performed. A total of 500 representation features were produced. Using K-means clustering, the TCGA samples were clustered into two risk subgroups with significantly different overall survival rates. Joint multimodal representation strategy, which showed a good model fitness (C-index=0.760), outperformed early-fusion autoencoder strategy. The joint representation learning-based classification model had good robustness. A total of 1,107 DEGs and 199 DMGs were screened out between the two risk subgroups. The DEGs were involved in 70 pathways, the majority of which were correlated with metastasis and proliferation of various cancer types, including cytokine-cytokine receptor interaction, cell adhesion molecules PPAR signaling pathway, pathways in cancer, transcriptional misregulation in cancer and ECM-receptor interaction pathways. The two survival subgroups obtained via the joint representation learning-based model had good robustness, and had prognostic significance for patients with ESCC.

CT Imaging and Differential Diagnosis of COVID-19.

Since the beginning of 2020, coronavirus disease 2019 (COVID-19) has spread throughout China. This study explains the findings from lung computed tomography images of some patients with COVID-19 treated in this medical institution and discusses the difference between COVID-19 and other lung diseases.

Corona Virus International Public Health Emergencies: Implications for Radiology Management.

The outbreak of 2019 novel coronavirus (2019-nCoV) pneumonia was reported in Wuhan, Hubei Province, China in December 2019 and has spread internationally. This article discusses how radiology departments can most effectively respond to this public health emergency.

Characterization of a five-microRNA signature as a prognostic biomarker for esophageal squamous cell carcinoma.

This study aims to identify a miRNAs signature for predicting overall survival (OS) in esophageal squamous cell carcinoma (ESCC) patients. MiRNA expression profiles and corresponding clinical information of 119 ESCC patients were obtained from NCBI GEO and used as the training set. Differentially expressed miRNAs (DEmiRNAs) were screened between early-stage and late-stage samples. Cox regression analysis, recursive feature elimination (RFE)-support vector machine (SVM) algorithm, and LASSO Cox regression model were used to identify prognostic miRNAs and consequently build a prognostic scoring model. Moreover, promising target genes of these prognostic miRNAs were predicted followed by construction of miRNA-target gene networks. Functional relevance of predicted target genes of these prognostic miRNAs in ESCC was analyzed by performing function enrichment analyses. There were 46 DEmiRNAs between early-stage and late-stage samples in the training set. A risk score model based on five miRNAs was built. The five-miRNA risk score could classify the training set into a high-risk group and a low-risk group with significantly different OS time. Risk stratification ability of the five-miRNA risk score was successfully validated on an independent set from the Cancer Genome Atlas (TCGA). Various biological processes and pathways were identified to be related to these miRNAs, such as Wnt signaling pathway, inflammatory mediator regulation of TRP channels pathway, and estrogen signaling pathway. The present study suggests a pathological stage-related five-miRNA signature that may have clinical implications in predicting prognosis of ESCC patients.

Bioinformatics identification of lncRNA biomarkers associated with the progression of esophageal squamous cell carcinoma.

The poor outcome of patients with esophageal squamous cell carcinoma (ESCC) highlights the importance of the identification of novel effective prognostic biomarkers. Long non­coding RNAs (lncRNAs) serve regulatory roles in various types of cancer. The aim of the present study was to investigate the lncRNA expression profile in ESCC and to identify lncRNAs associated with the prognosis of ESCC by performing comprehensive bioinformatics analyses. The RNA­sequencing (Seq) expression dataset GSE53625 generated from ESCC samples was used as a training dataset. Additional RNA­Seq datasets relative to ESCC samples were downloaded from The Cancer Genome Atlas and used as a validation dataset. Data were screened using the limma package, and differentially expressed lncRNAs between early­ and late­stage ESCC were identified. A random forest algorithm was used to select the optimal lncRNA biomarkers, which were then analyzed using the support vector machine (SVM) algorithm with R software. The identified lncRNA biomarkers were examined in the validation dataset by bidirectional hierarchical clustering and using an SVM classifier. Subsequently, univariate and multivariate Cox regression analyses were performed to analyze the potential ability lncRNAs to predict the survival rate of patients with ESCC. By examining the training group, 259 deregulated lncRNAs between early­ and advanced­stage ESCC were identified. Further bioinformatics analyses identified a nine­lncRNA signature, including AC098973, AL133493, RP11­51M24, RP11­317N8, RP11­834C11, RP11­69C17, LINC00471, LINC01193 and RP1­124C. This nine­lncRNA signature was used to predict the tumor stage and patient survival rate with high reliability and accuracy in the training and validation datasets. Furthermore, these nine lncRNA biomarkers were primarily involved in regulating the cell cycle and DNA replication, and these processes were previously identified to be associated with the progression of ESCC. The identified nine­lncRNA signature was identified to be associated with the tumor stage, and could be used as predictor of the survival rate of patients with ESCC.

Elevated expression of flotillin-1 is associated with lymph node metastasis and poor prognosis in early-stage cervical cancer.

Accumulating evidence has revealed that the expression of the lipid raft protein flotillin-1 is elevated in various human cancers, but the role flotillin-1 plays in the carcinogenesis of cervical cancer remains unclear. The expression profile of flotillin-1 was assayed using real-time PCR, western blotting, and immunohistochemical (IHC) staining in cervical cancer cell lines and cancer tissues with paired adjacent noncancerous cervical tissues. The expression of flotillin-1 protein was detected by IHC staining in a large cohort of 308 paraffin-embedded cervical cancer tissues. Ectopic expression and the short hairpin RNA interference approach were employed to determine the role of flotillin-1 in cervical cancer cell metastasis and the possible mechanism involved. Flotillin-1 expression protein and mRNA were significantly upregulated in cervical cancer cell lines and cancer tissues; elevated expression of flotillin-1 protein in early-stage cervical cancer was significantly associated with pelvic lymph node metastasis (P < 0.001), and was an independent predictive factor of poor overall survival. Moreover, flotillin-1 up- and downregulation remarkably affected cervical cancer cell motility and invasion, respectively, through epithelial-mesenchymal transition (EMT) regulated by the Wnt/ß-catenin and nuclear factor-κB (NF-κB) pathways. Our results suggest that flotillin-1 facilitates cervical cancer cell metastasis through Wnt/ß-catenin and NF-κB pathway-regulated EMT and that the flotillin-1 expression profile serves not only as novel predictor of pelvic lymph node metastasis, but also as neoteric risk factor for patients with early-stage cervical cancer.

Synthesis, structure and luminescence properties of two new acylamide metal-organic frameworks showing 4-connected CdSO4 and a threefold interpenetrating dia net.

Two new acylamide metal-organic frameworks (MOFs), based on mixed N- and O-donor ligands, with 4-connected topologies have been obtained, namely poly[[µ2-N(1),N(4)-bis(pyridin-3-yl)terephthalamide]bis(µ3-4,4'-oxydibenzoato)dizinc(II)], [Zn2(C14H8O5)2(C18H14N4O2)]n, (1), and poly[[(µ2-benzene-1,4-dicarboxylato)[µ2-N(4),N(4')-bis(pyridin-3-yl)-[1,1'-biphenyl]-4,4'-dicarboxamide]dicadmium(II)] dihydrate], {[Cd(C8H4O4)(C24H18N4O2)]·2H2O}n, (2). Complex (1) is a 4-connected CdSO4 net with no interpenetration, where the Zn(II) cation is regarded as a 4-connecting node with square geometry. Complex (2) is a 4-connected dia net with threefold interpenetration, where the Cd(II) cation acts as a 4-connecting node with tetrahedral geometry. The results of thermogravimetric and luminescence analyses are described in detail.

Bis[2,6-bis-(1H-pyrazol-1-yl)pyridine]-deca-kis-(µ2-3-nitro-benzoato)bis-(3-nitro-benzoato)tetra-dysprosium(III): a linear tetra-nuclear dysprosium compound based on mixed N- and O-donor ligands.

The title compound, [Dy4(C7H4NO4)12(C11H9N5)2] or Dy4(L1)12(L2)2, where HL1 = 3-nitro-benzoic acid and HL2 = 2,6-bis-(1H-pyrazol-1-y1)pyridine, is a linear tetra-nuclear complex possessing inversion symmetry. The two central inversion-related Dy(III) atoms are seven-coordinate, DyO7, with a monocapped triangular-prismatic geometry. The outer two Dy(III) atoms are eight-coordinate, DyO5N3, with a bicapped triangular-prismatic geometry. The outer adjacent Dy(III) atoms are bridged by three L1(-) carboxyl-ate groups, while the inner inversion-related Dy(III) atoms are bridged by four L1(-) carboxyl-ate groups. The L2 ligands are terminally coordinated to the outer Dy(III) atoms in a tridentate manner. In the crystal, mol-ecules are linked via C-H⋯O hydrogen bonds, forming a two-dimensional network parallel to (001). Two carboxyl-ate O atoms, and N and O atoms of three nitro groups, are disordered over two positions, with a refined occupancy ratio of 0.552 (6):0.448 (6).

Optimization of reaction conditions towards multiple types of framework isomers and periodic-increased porosity: luminescence properties and selective CO2 adsorption over N2.

Three new metal-organic frameworks (MOFs) were prepared by solvo(hydro)thermolysis and further characterized as framework isomers. The structural transformation from non-porous to porous MOFs and the purity of these products can be modulated by controlling the reaction temperature. The periodic-increased porosity observed was further confirmed by CO2 adsorption isotherms. Owing to the presence of acylamide groups in the pore walls and the flexible nature of the skeleton of these MOFs, highly selective CO2 adsorption over N2 was observed, as well as structure-dependent periodic varieties in luminescence properties.

A novel two-dimensional metal-organic supramolecular framework including π-π stacking and hydrogen-bond interactions.

[µ-N,N'-Bis(pyridin-3-yl)benzene-1,4-dicarboxamide-1:2κ(2)N:N']bis{[N,N'-bis(pyridin-3-yl)benzene-1,4-dicarboxamide-κN]diiodidomercury(II)}, [Hg2I4(C18H14N4O2)3], is an S-shaped dinuclear molecule, composed of two HgI2 units and three N,N'-bis(pyridin-3-yl)benzene-1,4-dicarboxamide (L) ligands. The central L ligand is centrosymmetric and coordinated to two Hg(II) cations via two pyridine N atoms, in a syn-syn conformation. The two terminal L ligands are monodentate, with one uncoordinated pyridine N atom, and each adopts a syn-anti conformation. The HgI2 units show highly distorted tetrahedral (sawhorse) geometry, as the Hg(II) centres lie only 0.34 (2) or 0.32 (2) Šfrom the planes defined by the I and pyridine N atoms. Supramolecular interactions, thermal stability and solid-state luminescence properties were also measured.

[Preliminary study of diffusion tensor imaging in treatment response assessment of major depression].

OBJECTIVE: To assess the value of diffusion tensor imaging (DTI) in therapeutic effect evaluation of major depression. METHODS: Eighteen patients who met the CCMD-3-R criteria for major depression or bipolar disorder (with depressed episode and total score no less than 18 for 17 items of Hamilton Depression Rating Scale) and 13 aged-matched controls were examined by routine magnetic resonance imaging (MRI) and DTI. DTI were used to determine fractional anisotropy (FA) in the preselected white matter regions. All the patients with major depression received treatment with selective serotonine reuptake inhibitor (SSRI) for 6-8 weeks, and the efficacy were assessed by Hamilton Depression Scale, Hamilton Anxiety Scale (HAMA), and Clinical Global Impression (CGI) scale. RESULTS: The total response rate to fluoxetine was 67%, and significant improvement was observed in 56% of the patients while 33% failed to respond after 8 weeks of treatment. The depressed subjects failing to respond to the treatment had a significant lower FA of the frontal white matter than those responding favorably to the treatment and the healthy control subjects. CONCLUSION: DTI may identify the microstructural abnormality in the white matter, which is associated with a low remission rate of major depression.

[Genetic instability detected by flow cytometry: DNA aneuploid and P16 expression in biopsy specimens from lung cancer].

OBJECTIVE: To investigate DNA aneuploid and P16 expression in biopsy specimens from lung cancer, and to study genetic instability and the application of flow cytometry in lung cancer pernicious degree diagnosis. METHODS: Blood cells and cancer cells in biopsy specimens were marked simultaneously with anti-CD45 and anti-P16 fluorescent antibody, and the ratio of CD45+ P16+ cells and CD4- P16+ cells was compared. DNA content in biopsy specimens from lung cancer was detected by flow cytometry. RESULTS: Among the 74 cases of lung cancer, there are 46 cases of DNA aneuploid (62.2%). Thirty-seven cases of lung cancer expressed P16 lowly (50%). Twelve cases of lung cancer only expressed P16 lowly (16.22%), 21 cases of lung cancer only expressed DNA aneuploid (28.38%), and 25 cases not only expressed P16 lowly but also expressed DNA aneuploid (33.78%). Indexes of malign degree, such as P16 low expression or DNA aneuploid could be detected in 58 cases among the 74 cases (78.38%) by flow cytometry. CONCLUSION: P16 low expression and DNA aneuploid are the indexes of lung cancer malign degree, and flow cytometry can be used to study genetic instability and evaluate biopsy specimens from lung cancer.

[The expression of mutation p53 gene from circulating cancer cells of peripheral blood and the clinical significance in detecting the patients with colorectal cancer].

OBJECTIVE: To study the clinical significance of detecting p53 gene mutation expression in colorectal cancer cells of peripheral blood. METHODS: Flow cytometry (FCM) was used to detect p53 gene mutation expression in peripheral blood cancer cells of 128 patients with colorectal cancer. Experimental data were analyzed by SPSS (v.11.0) software. RESULTS: The lymph node metastasis showed the significant difference statistically (P<0.01) between p53 positive and negative expression in the colorectal cancer patients. The mutation p53 expression associated with existing histological differentiation (r=0.8476, P<0.05). A lymph node metastasis difference was observed between left and right colorectal cancers of mutation p53 positive expression. CONCLUSION: Detecting the mutation p53 expression in cancer cells of peripheral blood might be helpful to the early diagnosis of colorectal cancer.

Large genomic aberrations in MSH2 and MLH1 genes are frequent in Chinese colorectal cancer.

Hereditary nonpolyposis colorectal cancer is caused by inactivating mutations in the genes of the DNA mismatch repair (MMR) system. Studies have shown that large-fragment aberrations in MMR genes are responsible for a considerable proportion of hereditary colorectal cancer (CRC), but it has been rarely reported in Chinese patients. Here we used multiplex ligation-dependent probe amplification to analyze the genomic rearrangements of 45 Chinese hereditary CRC families, 20 young-age CRC patients (onset of CRC at younger than 50 years and no family history), and 13 patients with sporadic CRC diagnosed at age 50 years or older. Overall, we found 9 (13.8%) large genomic deletions or duplications: 7 out of 45 CRC patients with family history and 2 out of 20 young CRC patients. In all alterations, five genomic deletions were uncovered in the MSH2 gene, as well as one deletion and three duplications in the MLH1 gene. Furthermore, two of the duplications unveiled in this study may have more than a four-copy increase of the exon showing duplication in MLH1. The results indicate that genomic aberrations, large-fragment deletions and duplications, in both MSH2 and MLH1 genes play a role in the pathogenesis of Chinese CRC patients with a family history, as reported in western populations. Moreover, the genomic aberrations in these genes might also be a frequent cause of CRC at a young age in China.