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Assessing the genomic feature of Chinese patients with ampullary adenocarcinoma: potential therapeutic targets
BackgroundsAmpullary adenocarcinoma (AMPAC) is a rare malignancy, treated as pancreatic or intestinal cancer based on its histologic subtype. Little...
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Airway epithelial cell identity and plasticity are constrained by Sox2 during lung homeostasis, tissue regeneration, and in human disease
Maintenance of the cellular boundary between airway and alveolar compartments during homeostasis and after injury is essential to prohibit...
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Development and validation of a multivariable model for prediction of malignant transformation and recurrence of oral epithelial dysplasia
BackgroundOral epithelial dysplasia (OED) is the precursor to oral squamous cell carcinoma which is amongst the top ten cancers worldwide. Prognostic...
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Imaging of Malformations of the Hindbrain and Craniocervical Junction
Primary hindbrain malformations are much less frequent than those of the cerebrum or combined anomalies. Cerebellar malformations may affect both...
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CD98hc has a pivotal role in maintaining the immuno-barrier integrity of basal layer cells in esophageal epithelium
ObjectivesThe current study aims to find the linker between esophageal epithelial carcinogenesis and chronic inflammation and the origin of...
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Machine learning-based improvement of MDS-CBC score brings platelets into the limelight to optimize smear review in the hematology laboratory
BackgroundMyelodysplastic syndromes (MDS) are clonal hematopoietic diseases of the elderly characterized by chronic cytopenias, ineffective and...
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A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome
BackgroundWiedemann–Steiner syndrome (WDSTS) is a rare autosomal dominant disorder caused by mutations in the KMT2A gene and is usually...
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H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components
The recently described malignant neuro-epithelial tumors with histone H3F3A point mutations at G34 (NET-H3-G34) occur most often in cerebral...
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Cervical cell classification with deep-learning algorithms
Cervical cancer is a serious threat to the lives and health of women. The accurate analysis of cervical cell smear images is an important diagnostic...
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Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2
Most patients with congenital anomalies of the kidney and urinary tract (CAKUT) remain genetically unexplained. In search of novel genes associated...
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Bone Marrow-Derived Alk1 Mutant Endothelial Cells and Clonally Expanded Somatic Alk1 Mutant Endothelial Cells Contribute to the Development of Brain Arteriovenous Malformations in Mice
We have previously demonstrated that deletion of activin receptor-like kinase 1 ( Alk1 ) or endoglin in a fraction of endothelial cells (ECs) induces...
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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in Noonan syndrome (NS). Gain-of-function variants in RAF1 are...
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A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report
BackgroundA patient with a myelodysplastic neoplasm exhibited a karyotype with multiple complex chromosome 5 rearrangements. This patient appeared to...
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Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis
Complete trisomy 22 is a rare chromosomal condition that is incompatible with life. However, mosaic trisomy 22 usually has prolonged survival...
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Nuclear receptor subfamily 2 group F member 2 ( NR2F2 or COUP-TF2 ) encodes a transcription factor which is expressed at high levels during mammalian...
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Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment
In solid tumor oncology, circulating tumor DNA (ctDNA) is poised to transform care through accurate assessment of minimal residual disease (MRD) and...
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Other Less Prevalent Tumors of the Central Nervous System
The presented tumors in this chapter are somewhat very rare, and their management is still debated due to the scarcity of information about their...
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Stromal Changes in Colon Blastomogenesis Associated with Development of Hypoxia in the Foci of Dysplasia
We studied the features of reaction of the colon stromal cells (lymphohistiocytic population, fibroblasts, and blood vessels) to the appearance and...
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Pitfalls in Cutaneous Melanoma Diagnosis and the Need for New Reliable Markers
Cutaneous melanoma is one of the most aggressive forms of skin cancer, with the development of advanced stage disease resulting in a high rate of...
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Benign Spinal Tumors
BenignBenign spinal intraduralIntradural tumors are relatively rare and include intramedullaryIntramedullary tumors with a favorable...