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Inherited KDM6AA649T facilitates tumor-immune escape and exacerbates colorectal signet-ring cell carcinoma outcomes
Childhood onset of colorectal signet-ring cell carcinoma (CR-SRCC) is extremely rare and featured as highly malignant with poor prognosis. Here we...
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Inactivation of KDM6A promotes the progression of colorectal cancer by enhancing the glycolysis
KDM6A (lysine demethylase 6A) has been reported to undergo inactivating mutations in colorectal cancer, but its function in the progression of...
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KDM6 demethylases integrate DNA repair gene regulation and loss of KDM6A sensitizes human acute myeloid leukemia to PARP and BCL2 inhibition
Acute myeloid leukemia (AML) is a heterogeneous, aggressive malignancy with dismal prognosis and with limited availability of targeted therapies....
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Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction
BackgroundKabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome...
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Commonalities and differences in the mutational signature and somatic driver mutation landscape across solid and hollow viscus organs
Advances in sequencing have revealed a highly variegated landscape of mutational signatures and somatic driver mutations in a range of normal...
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Ipsilateral synchronous papillary renal neoplasm with reverse polarity and urothelial carcinoma in a renal transplant recipient: a rare case report with molecular analysis and literature review
BackgroundRenal transplant recipients (RTRs) have a 3- to 5-fold higher risk of develo** malignant tumors than the general population, with new...
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RUNX1 mutation has no prognostic significance in paediatric AML: a retrospective study of the AML-BFM study group
In acute myeloid leukaemia (AML) RUNX1 mutation is characterised by certain clinicopathological features with poor prognosis and adverse risk by the...
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Pediatric acute myeloid leukemia with t(8;21) and KIT mutation treatment with avapritinib post-stem cell transplantation: a report of four cases
Acute myeloid leukemia (AML) with t(8;21) (q22;q22), which forms RUNX1::RUNX1T1 fusion gene, is classified as a favorable-risk group. However, the...
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Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report
BackgroundBiliary atresia (BA) cases are generally not associated with congenital abnormalities. However, accurate diagnosis of BA is often...
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Multi-omics analysis reveals critical metabolic regulators in bladder cancer
BackgroundThe crosstalk between genomic alterations and metabolic dysregulation in bladder cancer is largely unknown. A deep understanding of the...
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Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
BackgroundCongenital maxillomandibular syngnathia is a rare craniofacial anomaly leading to difficulties in feeding, breathing and ability to thrive....
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Pleomorphic giant cell carcinoma of the prostate: clinicopathologic analysis and oncological outcomes
We report on the clinicopathologic features of 27 pleomorphic giant cell carcinoma (PGCC) cases of the prostate identified in 20 patients with an age...
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KDM6B protects T-ALL cells from NOTCH1-induced oncogenic stress
T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematopoietic neoplasm resulting from the malignant transformation of T-cell...
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Predictors of Long-Term Survival in Pancreatic Ductal Adenocarcinoma after Pancreatectomy: TP53 and SMAD4 Mutation Scoring in Combination with CA19-9
BackgroundPancreatic ductal adenocarcinoma (PDA) is a fatal cancer for which even unfavorable clinicopathological factors occasionally fail to...
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Loss of KDM6A confers drug resistance in acute myeloid leukemia
Acute myeloid leukemia (AML) is an aggressive hematologic neoplasm resulting from the malignant transformation of myeloid progenitors. Despite...
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Mutation profile of non-small cell lung cancer revealed by next generation sequencing
BackgroundPrecision therapy for lung cancer requires comprehensive genomic analyses. Specific effects of targeted therapies have been reported in...
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Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study
BackgroundKabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations....
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Comprehensive analyses of prognostic biomarkers and immune infiltrates among histone lysine demethylases (KDMs) in hepatocellular carcinoma
BackgroundHistone lysine demethylases (KDMs) are closely related to the occurrence and development of different tumors through epigenetic mechanisms....
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Advances in the Treatment of Hairy Cell Leukemia Variant
Hairy cell leukemia variant (HCL-V) is a rare B cell lymphoproliferative disorder with a clinical-pathological distinction from the classic form of...
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X chromosome agents of sexual differentiation
Understanding sex differences in physiology and disease requires the identification of the molecular agents that cause phenotypic sex differences....
