Primary breast sarcomas are extraordinary rare, in particular undifferentiated pleomorphic sarcoma (UPS). UPS with neoplastic fever (UPS-NF) of the breast has not been reported yet. Here, we present an extended UPS-NF of the breast including its comprehensive molecular workup.A 58-year-old female presented with general malaise, fever spikes, weight loss, and a massively swollen left breast. C-reactive protein and blood leucocytes were significantly increased. However, repeated blood cultures and smears were all sterile. Histopathology of the abscess-forming tumor revealed an undifferentiated malignancy with numerous of tumor giant cells as well as spindle-shaped cells with nuclear pleomorphism and hyperchromasia. Immunohistochemistry demonstrated partial, patchy desmin staining and weak heterogonous neuron-specific enolase immunoreactivity of tumor cells, but a focal staining for Melan-A.Neither common melanoma driver mutations nor an ultraviolet mutational signature was detected by whole genome sequencing. Using FISH and RT-PCR we also excluded translocations characteristic for clear cell sarcoma. Thus, the diagnosis of inflammatory UPS-NF of the breast was considered highly probable. Despite a complete mastectomy, the tumor recurred after only three months. This recurrence was treated with a combination of ipilimumab and nivolumab based on the primary tumor's TPS score for PD-L1 of 30%. After an initial response, however, the tumor was progressive again.We describe here the first case of UPS-NF of the breast, which shows great clinical and histopathologic resemblances to previously reported UPS-NF of other anatomic localizations. 

/pdf/undifferentiated-pleomorphic-sarcoma-of-the-breast-with-1be5vxqo.pdf

Undifferentiated pleomorphic sarcoma of the breast with neoplastic fever: case report and genomic characterization

Objective: To highlight the clinical characteristics of primary biliary cholangitis on the basis of gender in terms of the extent of liver injury and extra-liver autoimmune expressions.
Methods: The retrospective study was conducted at the Tri-Service General Hospital, Taiwan, and comprised data of patients aged >20 years diagnosed with primary biliary cholangitis between January 2000 and December 2018. Patients in the control group were randomly selected from the health examination centre. Liver injury manifestations and susceptibilities were analysed along gender lines. The gene expression microarray data from the National Centre for Biotechnology Information Gene Expression Omnibus database was also used to explore the relationship between autoimmune-induced inflammation and androgen response expression. Statistical analysis was done using Graph-Pad Prism 7.0.
Results: Of the 75 cases, 63(84%) were females with a mean age of 64.6±1.78 years, and 12(16%%) were males with a mean age of 46.6±5.6 years. Of the 66 controls, 55(83.3%) were females with a mean age of 51.67 years, and 11(16.6%) were males with a mean age of 45.9 years. There were no significant differences in terms of liver profiles related to gender in the control group (p>0.05). Among the cases, male patients showed fewer extrahepatic autoimmune disorders and more severe liver injuries before or after ursodeoxycholic acid treatment (p<0.05). There was a positive correlation between androgen receptor response and the extent of systemic inflammation (p<0.05).
Conclusion: The association between androgen receptor responses and inflammation was linked to gender-related hepatic injuries, 
--Ciontinue

New insights into sex differences in primary biliary cholangitis. Gender difference in primary biliary cholangitis

Human type 2 taste receptor (TAS2R) genes encode bitter-taste receptors that are activated by various bitter ligands. It has been said that TAS2R38 may detect bitter substances and then suppress their intake by controlling gustatory or digestive responses. The major haplotypes of TAS2R38 involve three non-synonymous, closely-linked single-nucleotide polymorphisms (SNPs), leading to three amino acid substitutions (A49P, V262A and I296V) and resulting in a PAV or AVI allele. The allele frequency of AVI/PAV was 0.42/0.58 in this study. The genotype frequency distributions of TAS2R38 were 18.32%, 46.95% and 33.95% for AVI/AVI, AVI/PAV and PAV/PAV, respectively, and were in Hardy-Weinberg equilibrium. Five haplotype combinations of minor alleles were identified: AVI/AAV, AVI/AVV, AAI/PAV, AVI/PVV, AVI/AAI, with corresponding frequencies of 0.49%, 0.10%, 0.10%, 0.05%, 0.05%, respectively, in 2,047 Japanese Tohoku Medical Megabank Organization (ToMMo) subjects (2KJPN). The 16 subjects with these minor alleles were excluded from the questionnaire analysis, which found no significant differences among the major TAS2R38 genotypes (AVI/AVI, AVI/PAV and PAV/PAV) in the intake frequency of cruciferous vegetables or in the frequency of drinking alcohol. This result differs from previous data using American and European subjects. This is the first study to analyze the relationship between TAS2R38 genotype and the eating and drinking habits of Japanese subjects. It was also shown that there were no relationships at all between the genetic polymorphism of TAS2R46 and the phenotypes such as clinical BMI, eating and drinking habits among the 3 genotypes of TAS2R46 (∗/∗, ∗/W, W/W) at position W250∗ (∗stop codon).

Analysis of Genetic Polymorphism of Bitter Taste Receptor TAS2R38 and TAS2R46, and Its Relationship with Eating and Drinking Habits in Japanese ToMMo Subjects.

OBJECTIVE
To highlight the clinical characteristics of primary biliary cholangitis on the basis of gender in terms of the extent of liver injury and extra-liver autoimmune expressions.


METHODS
The retrospective study was conducted at the Tri-Service General Hospital, Taiwan, and comprised data of patients aged >20 years diagnosed with primary biliary cholangitis between January 2000 and December 2018. Patients in the control group were randomly selected from the health examination centre. Liver injury manifestations and susceptibilities were analysed along gender lines. The gene expression microarray data from the National Centre for Biotechnology Information Gene Expression Omnibus database was also used to explore the relationship between autoimmune-induced inflammation and androgen response expression. Statistical analysis was done using Graph-Pad Prism 7.0.


RESULTS
Of the 75 cases, 63(84%) were females with a mean age of 64.6±1.78 years, and 12(16%%) were males with a mean age of 46.6±5.6 years. Of the 66 controls, 55(83.3%) were females with a mean age of 51.67 years, and 11(16.6%) were males with a mean age of 45.9 years. There were no significant differences in terms of liver profiles related to gender in the control group (p>0.05). Among the cases, male patients showed fewer extrahepatic autoimmune disorders and more severe liver injuries before or after ursodeoxycholic acid treatment (p<0.05). There was a positive correlation between androgen receptor response and the extent of systemic inflammation (p<0.05). Conclusion: The association between androgen receptor responses and inflammation was linked to gender-related hepatic injuries, which may explain why liver inflammation in male patients is generally more severe compared to the female patients.


Conclusion
The association between androgen receptor responses and inflammation was linked to gender-related hepatic injuries, which may explain why liver inflammation in male patients is generally more severe compared to the female patients.

New insights into sex differences in primary biliary cholangitis. Gender difference in primary biliary cholangitis.

Although big data from transcriptomic analyses have helped transform our understanding of inflammatory bowel disease (IBD), they remain underexploited. We hypothesized that the application of machine learning using lasso regression to transcriptomic data from IBD patients and controls can help identify previously overlooked genes. Transcriptomic data provided by Ostrowski et al. (ENA PRJEB28822) were subjected to a two-stage process of feature selection to discriminate between IBD and controls. First, a principal component analysis was used for dimensionality reduction. Second, the least absolute shrinkage and selection operator (lasso) regression was employed to identify genes potentially involved in the pathobiology of IBD. The study included data from 294 participants: 100 with ulcerative colitis (48 adults and 52 children), 99 with Crohn’s disease (45 adults and 54 children), and 95 controls (46 adults and 49 children). IBD patients presented a wide range of disease severity. Lasso regression preceded by principal component analysis successfully selected interesting features in the IBD transcriptomic data and yielded 12 models. The models achieved high discriminatory value (range of the area under the receiver operating characteristic curve 0.61–0.95) and identified over 100 genes as potentially associated with IBD. PURA, GALNT14, and FCGR1A were the most consistently selected, highlighting the role of the cell cycle, glycosylation, and immunoglobulin binding. Several known IBD-related genes were among the results. The results included genes involved in the TGF-beta pathway, expressed in NK cells, and they were enriched in ontology terms related to immunity. Future IBD research should emphasize the TGF-beta pathway, immunoglobulins, NK cells, and the role of glycosylation.

/pdf/unexpected-actors-in-inflammatory-bowel-disease-revealed-by-3q1ej6bv.pdf

Unexpected Actors in Inflammatory Bowel Disease Revealed by Machine Learning from Whole-Blood Transcriptomic Data

Background. Patients diagnosed with ulcerative colitis (UC) associated with primary sclerosis cholangitis (PSC) and sessile serrated adenoma (SSA) are rare. The present study aimed to identify the potential causative gene mutation in a patient with UC associated with PSC and SSA. Methods. DNA was extracted from the blood sample and tissue sample of SSA, followed by the whole exome sequencing (WES) analysis. Bioinformatics analysis was utilized to predict the deleteriousness of the identified variants. Multiple sequence alignment and conserved protein domain analyses were performed using online software. Sanger sequencing was used to validate the identified variants. Expression and diagnostic analysis of identified mutated genes was performed in the GSE119600 dataset (peripheral blood samples of PSC and UC) and GSE43841 dataset (tumor samples of SSA). Results. In the present study, a total of 842 single nucleotide variants (SNVs) in 728 genes were identified in the blood sample. Two variants, integrin beta 4 (ITGB4) (c.C2503G; p.P835A) and a mucin 3A (MUC3A) (c.C1019T; p.P340L), were further analyzed. MUC3A was associated with inflammatory bowel disease. Sanger sequence in blood revealed that the ITGB4 mutation was fully cosegregated with the result of WES in the patient. Additionally, a variant, tumor protein p53 gene (TP53) (c.86delA; p.N29Tfs 15) was identified in the tissue sample of SSA. Compared to that in normal controls, ITGB4 was upregulated in both UC and PSC, MUC3A was, respectively, upregulated and downregulated in PSC and UC, and TP53 was downregulated in SSA. ITGB4 and TP53 had a potential diagnostic value for UC, PSC and SSA. Conclusions. The present study demonstrated that the ITGB4 (c.C2503G; p.P835A) and MUC3A (c.C1019T; p.P340L) mutations may be the potential causative variants in a patient with UC associated with PSC and SSA. TP53 (c.86delA; p.N29Tfs 15) mutation may be associated with SSA in this patient.

/pdf/whole-exome-sequencing-identifies-two-novel-mutations-in-a-5gmeql6bgz.pdf

Whole Exome Sequencing Identifies Two Novel Mutations in a Patient with UC Associated with PSC and SSA

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Whole Exome Sequencing Identifies Two Novel Mutations in a Patient with UC Associated with PSC and SSA