Full-Length Sequence of the HLA-DQB1*05:02:01:17 Allele Using Next-Generation Sequencing.
The HLA-DQB1*05:02:01:17 allele differs from HLA-DQB1*05:02:01:01 by a single nucleotide substitution in intron 3.
Humans↗
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Identification of the Novel HLA-A*25:95 Allele by Next Generation Sequencing.
The novel HLA-A*25:95 allele differs from HLA-A*25:01:01:01 by one nucleotide substitution in exon 2.
Humans↗
The Novel HLA-DQA1*03:63 Allele Was Identified by Next-Generation Sequencing.
HLA-DQA1*03:63 differs from HLA-DQA1*03:02:01:01 by a single nucleotide substitution at position 722 G>A.
Humans↗
The Novel HLA-C*15:02:01:66 Allele Identified Through Next-Generation Sequencing in a Greek Individual.
The HLA-C*15:02:01:66 allele differs from HLA-C*15:02:01:01 by a single-nucleotide substitution in Intron 6.
Humans↗
Using Next Generation Sequencing, Identification of the Novel Allele HLA-C*04:547 in a Saudi Individual.
The HLA-C*04:547 allele differs from HLA-C*04:04:01:01 by a single non-synonymous change in exon 7.
Humans↗
The HLA-C*12:72 Allele, Confirmed by Next-Generation Sequencing in an Indian Individual.
The HLA-C*12:72 allele, differs from HLA-C*12:02:02:01, by one nonsynonymous substitution, c.312C>A in exon 2.
Humans↗
Identification of the Novel HLA-B*55:135 Allele by Next-Generation Sequencing.
Compared with the HLA-B*55:04 allele, HLA-B*55:135 shows two nucleotide substitutions in exon 2 (codon 63 AAC>GAG).
Humans↗
Characterisation of the Novel HLA-A*23:23:02 Allele by Next Generation Sequencing.
HLA-A*23:23:02 differs from the most closely related allele A*23:23:01 by a single synonymous substitution in exon 3.
Humans↗
Characterisation of the Novel HLA-B*08:01:80 Allele Identified by Next-Generation Sequencing.
HLA-B*08:01:80 differs from HLA-B*08:01:01:01 by one nucleotide substitution in exon 2-437 G>A.
Humans↗
Characterisation of the Novel HLA-C*08:01:37 Allele by Next-Generation Sequencing.
HLA-C*08:01:37 differs from HLA-C*08:01:01:01 by one single nucleotide substitution at position 927 G>A in exon 5.
Humans↗
The Novel HLA-C*07:1193 Allele Was Identified by Next-Generation Sequencing.
HLA-C*07:1193 differs from HLA-C*07:02:01:03 in exon 5 codon 292 (GCT>GTT).
Humans↗
Identification of the Novel HLA-A*02:540:02N Allele by Next-Generation Sequencing.
HLA-A*02:540:02N differs from A*02:01:01:01 by one nucleotide substitution in codon 99 in exon 3.
Humans↗
Characterisation of the Novel HLA-A*23:163 Allele by Next-Generation Sequencing.
HLA-A*23:163 differs from HLA-A*23:01:01:03 by a single nucleotide substitution at position 925 of the cDNA.
Humans↗
The Novel HLA-DQB1*06:03:60 Allele Identified by Next-Generation Sequencing and Confirmed by Nanopore Sequencing.
HLA-DQB1*06:03:60 differs from HLA-DQB1*06:03:01:01 by a single synonymous nucleotide substitution at position 174 in Exon 2.
Humans↗
Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.
HLA-DQB1*05:386 differs from HLA-DQB1*05:01:01:01 by a non-synonymous substitution in exon 4.
Humans↗
Identification of the Novel HLA-DQB1*02:02:41 Allele by Next-Generation Sequencing.
HLA-DQB1*02:02:41 differs from HLA-DQB1*02:02:01:01 by one synonymous nucleotide substitution at Codon 39 in Exon 2.
Humans↗
The Novel HLA-A*02:1229 Allele Was Identified by Next-Generation Sequencing.
HLA-A*02:1229 differs from HLA-A*02:07:01:01 by a single nucleotide substitution at position 1014 T>A.
Humans↗
Characteristics of p53 and Smad4 immunohistochemistry in pancreatic ductal adenocarcinoma and validation by next-generation sequencing.
BACKGROUND: Mutations in four major driver genes -KRAS, CDKN2A, TP53, and SMAD4- are central to the pathogenesis of pancreatic ductal adenocarcinoma (PDAC) and critically inform diagnosis, therapeutic decision-making, and prognostic assessment. Although next-generation sequencing (NGS) is widely regarded as the gold standard for detecting these mutations, its clinical application is often limited by suboptimal analytical efficiency and substantial economic cost. Among these genes, immunohistochemical (IHC) staining for the proteins encoded by TP53 and SMAD4 has been extensively adopted in routine pathology practice. However, standardized IHC pattern classification schemes and rigorous validation of their predictive accuracy for underlying genomic alterations remain lacking in PDAC. METHODS: We retrospectively enrolled 63 PDAC patients and systematically characterized the typical IHC expression patterns of p53 and Smad4. Targeted NGS was subsequently performed on all available tumor specimens, and the resulting mutational profiles were correlated with corresponding IHC findings. Diagnostic performance including sensitivity, specificity and accuracy of p53 IHC for predicting TP53 mutations and of Smad4 IHC for predicting SMAD4 mutations was rigorously evaluated. RESULTS: Among the four canonical driver genes, co-occurring double- or triple-gene mutations were prevalent; within TP53 and SMAD4, missense mutations constituted the most frequent variant type. Using NGS as the reference standard, we validated the diagnostic utility of a three-tiered p53 IHC classification system, particularly in fine-needle biopsy (FNB) specimens. Furthermore, we proposed a novel, refined Smad4 IHC pattern classification that incorporates an "intermediate" category, thereby expanding upon conventional binary interpretation. This new scheme achieved markedly improved mutation prediction accuracy (0.76) compared with traditional approaches (0.57). CONCLUSION: Our study highlights the complementary diagnostic value of p53 and Smad4 IHC relative to molecular testing in PDAC, especially when tissue is limited, as commonly encountered in FNB specimens. The newly established Smad4 IHC classification system, which integrates an intermediate expression category into the conventional two-tier framework, demonstrates superior clinical utility and enhances predictive accuracy for SMAD4 genomic alterations.
Humans↗