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“Hepatoblastoma 3q”, Victor McKusick, “Mendelian Inheritance in Man”, 1966. 肝母細胞瘤。(PIK3CA).

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Here I present: “Hepatoblastoma 3q”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 肝母細胞瘤。(PIK3CA).

INTRODUCTION.

Chromosome #3 has two (2) different genes that have been identified in hepatoblastoma: CTNNB1on 3p22.1  & PIK3CA on 3q26.32.  Hepatoblastoma is a malignant liver cancer occurring in infants and children and composed of tissue resembling fetal liver cells, mature liver cells, or bile duct cells. They usually present with an abdominal mass. The disease is most commonly diagnosed during a child’s first three years of life.  Alpha-fetoprotein (AFP) levels are commonly elevated, but when AFP is not elevated at diagnosis the prognosis is poor.

There is evidence hepatoblastoma is caused by mutation in the phosphatidylinositol 3-kinase (PIK3CA) gene on cytogenetic location 3q26.32 and genomic coordinates 3:179,148,126-179,240,093.  The screenshot of the PIK3CA gene 91,968 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PIK3CA in the cytogenetic location are listed BENEATH.

Coordinate Symbol Genomic Name
3:174,440,982 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2
3:177,019,344 TBL1XR1 Transducin-beta-like 1 receptor 1
3:178,536,436 KCNMB2 Potassium channel, calcium-activated, large, M, beta  2
3:179,017,223 WIG1 Wildtype p53-induced gene
3:179,148,126  PIK3CA Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide
3:179,239,703 KCNMB3 Potassium large conductance calcium channel, M, beta 3
3:179,322,876 ZNF639 Zinc finger protein 639
3:179,347,709 MFN1 Mitofusin 1
3:179,396,088 GNB4 Guanine nucleotide-binding protein, beta-4
3:179,562,926 ACTL6A Actin-like 6A

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