Targeted gene sequencing and bioinformatics analysis of patients with gallbladder neuroendocrine carcinoma: A case report

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Jan 15, 2025 (publication date) through Dec 23, 2024

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World Journal of Gastrointestinal Oncology

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1948-5204

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Report

World J Gastrointest Oncol. Jan 15, 2025; 17(1): 100757
Published online Jan 15, 2025. doi: 10.4251/wjgo.v17.i1.100757

Table 1 The information of neuroendocrine carcinoma of gallbladder-related mutated genes

Genes	Original name	Cytoband	Exon count	Variant type	Abundance variation
APC	APC regulator of WNT signaling pathway	5q22.2	20	Copy number variation	CN: 1.2
ARID2	AT-rich interaction domain 2	12q12	22	c.3382C>T (p.Q1128)	77.3%
IFNA6	interferon alpha 6	9p21.3	1	c.53C>G (p.S18)	42.8%
KEAP1	Kelch like ECH associated protein 1	19p13.2	7	c.1408C>T (p.R470C)	87.9%
RB1	RB transcriptional corepressor 1	13q14.2	27	c.772-776del (p.N258Efs1)	76.1%
SMAD4	SMAD family member 4	18q21.2	12	Copy number variation	CN: 1.1
TP53	tumor protein p53	17p13.1	11	Copy number variation	CN: 1.1
TP53	tumor protein p53	17p13.1	11	c.574C>T (p.Q192)	81.3%
BTK	Bruton tyrosine kinase	Xq22.1	21	c.574C>T (p.D232V)	48.6%
GATA1	GATA binding protein 1	Xp11.23	6	c.173C>A (p.A58E)	42.5%
GNAS	GNAS complex locus	20q13.32	22	c.1048G>C (p.E350Q)	42.9%
MECOM	MDS1 and EVI1 complex locus	3q26.2	24	c.1161G>T (p.Q387H)	2.4%

Table 2 Key regulated factor of neuroendocrine carcinoma of gallbladder-related genes

	Key TF	Description	Overlapped genes	P value	FDR
1	YY1	YY1 transcription factor	APC, GNAS, TP53	1.74E-05	1.32E-04
2	KAT2B	K(lysine) acetyltransferase 2B	RB1, SMAD4	2.40E-05	1.32E-04
3	PAX5	Paired box 5	RB1, TP53	6.45E-05	2.36E-04
4	DNMT1	DNA (cytosine-5-)-methyltransferase 1	RB1, TP53	1.42E-04	3.91E-04
5	EZH2	Enhancer of zeste homolog 2 (Drosophila)	APC, TP53	2.38E-04	5.24E-04
6	FOS	FBJ murine osteosarcoma viral oncogene homolog	SMAD4, TP53	4.85E-04	7.61E-04
7	GATA1	GATA binding protein 1 (globin transcription factor 1)	GATA1, GNAS	4.85E-04	7.61E-04
8	SPI1	SFFV proviral integration oncogene spi1	BTK, GATA1	5.73E-04	7.88E-04
9	MYC	V-myc myelocytomatosis viral oncogene homolog (avian)	GATA1, TP53	1.48E-03	1.81E-03
10	E2F1	E2F transcription factor 1	RB1, TP53	2.64E-03	2.90E-03
11	TP53	Tumor protein p53	RB1, TP53	3.92E-03	3.92E-03

TF: Transcription factor; FDR: False discovery rate; SFFV: Spleen focus forming virus.

Citation: Yang YC, Chen ZT, Wan DL, Tang H, Liu ML. Targeted gene sequencing and bioinformatics analysis of patients with gallbladder neuroendocrine carcinoma: A case report. World J Gastrointest Oncol 2025; 17(1): 100757
URL: https://www.wjgnet.com/1948-5204/full/v17/i1/100757.htm
DOI: https://dx.doi.org/10.4251/wjgo.v17.i1.100757