scholarly journals New advances in the molecular classification of pediatric mesenchymal tumors

2018 ◽  
Vol 58 (2) ◽  
pp. 100-110 ◽  
Author(s):  
Albert J. H. Suurmeijer ◽  
Yu-Chien Kao ◽  
Cristina R. Antonescu
2018 ◽  
Vol 31 (05) ◽  
pp. 295-300 ◽  
Author(s):  
Katherine Kelley ◽  
Raphael Byrne ◽  
Kim Lu

AbstractGastrointestinal stromal tumors (GISTs) are rare in occurrence, but comprise the most common mesenchymal tumors of the gastrointestinal tract and affect between 15 and 20 individuals per million per year. Due to recent advancements in molecular classification of these tumors, medical therapy has provided improved outcomes to a historically surgically managed disease. This review article briefly discusses the molecular characteristics, medical and surgical therapies, and future of GIST management.


Author(s):  
Gerald Fine ◽  
Azorides R. Morales

For years the separation of carcinoma and sarcoma and the subclassification of sarcomas has been based on the appearance of the tumor cells and their microscopic growth pattern and information derived from certain histochemical and special stains. Although this method of study has produced good agreement among pathologists in the separation of carcinoma from sarcoma, it has given less uniform results in the subclassification of sarcomas. There remain examples of neoplasms of different histogenesis, the classification of which is questionable because of similar cytologic and growth patterns at the light microscopic level; i.e. amelanotic melanoma versus carcinoma and occasionally sarcoma, sarcomas with an epithelial pattern of growth simulating carcinoma, histologically similar mesenchymal tumors of different histogenesis (histiocytoma versus rhabdomyosarcoma, lytic osteogenic sarcoma versus rhabdomyosarcoma), and myxomatous mesenchymal tumors of diverse histogenesis (myxoid rhabdo and liposarcomas, cardiac myxoma, myxoid neurofibroma, etc.)


Author(s):  
Antonio Pico ◽  
Laura Sanchez-Tejada ◽  
Ruth Sanchez-Ortiga ◽  
Rosa Camara ◽  
Cristina Lamas ◽  
...  

Author(s):  
Rodrigo Madurga ◽  
Noemí García-Romero ◽  
Beatriz Jiménez ◽  
Ana Collazo ◽  
Francisco Pérez-Rodríguez ◽  
...  

Abstract Molecular classification of glioblastoma has enabled a deeper understanding of the disease. The four-subtype model (including Proneural, Classical, Mesenchymal and Neural) has been replaced by a model that discards the Neural subtype, found to be associated with samples with a high content of normal tissue. These samples can be misclassified preventing biological and clinical insights into the different tumor subtypes from coming to light. In this work, we present a model that tackles both the molecular classification of samples and discrimination of those with a high content of normal cells. We performed a transcriptomic in silico analysis on glioblastoma (GBM) samples (n = 810) and tested different criteria to optimize the number of genes needed for molecular classification. We used gene expression of normal brain samples (n = 555) to design an additional gene signature to detect samples with a high normal tissue content. Microdissection samples of different structures within GBM (n = 122) have been used to validate the final model. Finally, the model was tested in a cohort of 43 patients and confirmed by histology. Based on the expression of 20 genes, our model is able to discriminate samples with a high content of normal tissue and to classify the remaining ones. We have shown that taking into consideration normal cells can prevent errors in the classification and the subsequent misinterpretation of the results. Moreover, considering only samples with a low content of normal cells, we found an association between the complexity of the samples and survival for the three molecular subtypes.


Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 733
Author(s):  
Nobutaka Ebata ◽  
Masashi Fujita ◽  
Shota Sasagawa ◽  
Kazuhiro Maejima ◽  
Yuki Okawa ◽  
...  

Gallbladder cancer (GBC), a rare but lethal disease, is often diagnosed at advanced stages. So far, molecular characterization of GBC is insufficient, and a comprehensive molecular portrait is warranted to uncover new targets and classify GBC. We performed a transcriptome analysis of both coding and non-coding RNAs from 36 GBC fresh-frozen samples. The results were integrated with those of comprehensive mutation profiling based on whole-genome or exome sequencing. The clustering analysis of RNA-seq data facilitated the classification of GBCs into two subclasses, characterized by high or low expression levels of TME (tumor microenvironment) genes. A correlation was observed between gene expression and pathological immunostaining. TME-rich tumors showed significantly poor prognosis and higher recurrence rate than TME-poor tumors. TME-rich tumors showed overexpression of genes involved in epithelial-to-mesenchymal transition (EMT) and inflammation or immune suppression, which was validated by immunostaining. One non-coding RNA, miR125B1, exhibited elevated expression in stroma-rich tumors, and miR125B1 knockout in GBC cell lines decreased its invasion ability and altered the EMT pathway. Mutation profiles revealed TP53 (47%) as the most commonly mutated gene, followed by ELF3 (13%) and ARID1A (11%). Mutations of ARID1A, ERBB3, and the genes related to the TGF-β signaling pathway were enriched in TME-rich tumors. This comprehensive analysis demonstrated that TME, EMT, and TGF-β pathway alterations are the main drivers of GBC and provides a new classification of GBCs that may be useful for therapeutic decision-making.


Algorithms ◽  
2021 ◽  
Vol 14 (5) ◽  
pp. 134
Author(s):  
Loai Abdallah ◽  
Murad Badarna ◽  
Waleed Khalifa ◽  
Malik Yousef

In the computational biology community there are many biological cases that are considered as multi-one-class classification problems. Examples include the classification of multiple tumor types, protein fold recognition and the molecular classification of multiple cancer types. In all of these cases the real world appropriately characterized negative cases or outliers are impractical to achieve and the positive cases might consist of different clusters, which in turn might lead to accuracy degradation. In this paper we present a novel algorithm named MultiKOC multi-one-class classifiers based K-means to deal with this problem. The main idea is to execute a clustering algorithm over the positive samples to capture the hidden subdata of the given positive data, and then building up a one-class classifier for every cluster member’s examples separately: in other word, train the OC classifier on each piece of subdata. For a given new sample, the generated classifiers are applied. If it is rejected by all of those classifiers, the given sample is considered as a negative sample, otherwise it is a positive sample. The results of MultiKOC are compared with the traditional one-class, multi-one-class, ensemble one-classes and two-class methods, yielding a significant improvement over the one-class and like the two-class performance.


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