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12 Possible Causes for Hepatomegaly, Mutation in the CDK6 Gene

  • Pancreatic Neoplasm

    Physical examination may reveal jaundice, temporal wasting, peripheral lymphadenopathy, hepatomegaly, and ascites.[ncbi.nlm.nih.gov] Thus when mutations in the CDKN2A gene disrupt the function of p16(INK4), there is improper progression from the G1 to the S phase, allowing continued, uncontrolled cell proliferation[ncbi.nlm.nih.gov] Patients presenting with or developing advanced intra-abdominal disease may have ascites, a palpable abdominal mass, hepatomegaly from liver metastases, or splenomegaly from[emedicine.medscape.com]

  • Biliary Carcinoma

    Other features include fatigue, acholic stool, a palpable mass, hepatomegaly, or a distended gallbladder (Courvoisier sign, with distal cholangiocarcinoma).[msdmanuals.com] This tendency is the same as that for K-ras mutations and the pancreaticobiliary maljunction may override the effect of p53 gene mutations.[atlasgeneticsoncology.org] […] gastric outlet, gastroesophageal junction, or small bowel Bleeding in the stomach from esophageal varices or at the anastomosis after surgery Intrahepatic jaundice caused by hepatomegaly[emedicine.medscape.com]

  • Malignant Gastric Neoplasm

    Signs may include a palpable enlarged stomach with succussion splash; hepatomegaly; periumbilical metastasis (Sister Mary Joseph nodule); and enlarged lymph nodes such as[emedicine.medscape.com] Figure 5: Integrated molecular description of gastric cancer. a , Mutations, copy-number changes and translocations for select genes are shown across samples organized by[nature.com] Physical exam The most common finding in advanced cases is palpable abdominal mass, which may be accompanied by succussion splash and hepatomegaly.[symptoma.com]

  • Gallbladder Carcinoma

    Ultrasound of the abdomen revealed hepatomegaly with thick-walled gallbladder with multiple stones and a mass at the fundus, but normal uterus and ovary.[ncbi.nlm.nih.gov] This tendency is the same as that for K-ras mutations and the pancreaticobiliary maljunction may override the effect of p53 gene mutations.[atlasgeneticsoncology.org] Gene Name CDKN2A (cyclin dependent kinase 2a / p16) Location 9p21.3 Dna / Rna 3 exons Protein Regulatory protein in the cell cycle and cyclin-dependent kinase ( cdk4 / cdk6[atlasgeneticsoncology.org]

  • Gastric Cancer

    An ultrasound of the abdomen showed mild hepatomegaly with multiple hyperechoic lesions and wall thickening of the pyloric antrum.[ncbi.nlm.nih.gov] Figure 5: Integrated molecular description of gastric cancer. a, Mutations, copy-number changes and translocations for select genes are shown across samples organized by molecular[nature.com] Important signs for advanced disease include hepatomegaly and supraclavicular lymphadenopathy (Virchow's node).[ozradonc.wikidot.com]

  • Gastric Adenocarcinoma

    Late in the course, abnormalities include an epigastric mass; umbilical, left supraclavicular, or left axillary lymph nodes; hepatomegaly; and an ovarian or rectal mass.[merckmanuals.com] In Pt2, the SETBP1 gene (p.S944N) was mutated, as it is in myeloid malignancies ( 20 ), together with amplification of AKAP9 and CDK6 (cyclin-dependent kinase 6).[pnas.org] […] advanced , the doctor’s examination may reveal: Abdominal mass/es; Enlarged lymph nodes (lymphadenopathy) Bowel obstruction; Fluid in the abdomen (ascites); Enlarged liver (hepatomegaly[myvmc.com]

  • Acute Myelomonocytic Leukemia

    Symptoms occurring in both AML and ALL Fatigue , pallor , and weakness (caused by anemia ) Bleeding ( petechiae , epistaxis ; , or hematoma , caused by thrombocytopenia ) Hepatomegaly[amboss.com] In one-third we observed chromosome abnormalities (e.g. trisomy 8, del20q) and gain or loss of genes (e.g. NF1, RB1 and CDK6 ).[bmccancer.biomedcentral.com] Abdominal ultrasonograhy revealed hepatomegaly, splenomegaly and intraabdominal effusion.[ispub.com]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    , cough, poor weight gain, a maculopapular rash (discolored but not raised, or small and raised but not containing pus), lymphadenopathy (enlarged lymph nodes), moderate hepatomegaly[en.wikipedia.org] In one-third we observed chromosome abnormalities (e.g. trisomy 8, del20q) and gain or loss of genes (e.g. NF1, RB1 and CDK6 ).[bmccancer.biomedcentral.com] RAS mutations were detected in 4 cases (including an uncommon codon 146 mutation in KRAS ) and PTPN11 mutations in 3 cases.[bmccancer.biomedcentral.com]

  • Autosomal Recessive Primary Microcephaly Type 13

    Stunted growth, hepatomegaly, hypoglycemia.[kumc.edu] […] in the ZNF335 gene ({610827}) on 20q13; MCPH11 ({615414}), caused by mutation in the PHC1 gene ({602978}) on 12p13; MCPH12 ({616080}), caused by mutation in the CDK6 gene[diseaseinfosearch.org] Cardiomegaly, hepatomegaly, and systemic findings, leading to early death.[kumc.edu]

  • Neuroectodermal Tumor

    One patient presented with Budd-Chiari syndrome More Details with hepatomegaly, ascites and jaundice.[indianjcancer.com] Poor prognosis: Group 3, MYC amplification, photoreceptor/GABAergic gene expression Intermediate prognosis: Group 4, gene expression of neuronal/glutamatergic, CDK6 amplification[en.wikipedia.org] […] this is the second case to be reported of PNET primarily involving the liver: the other case published in the literature was of a 20-year-old woman presenting with massive hepatomegaly[elsevier.es]

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