p.2
Thyroid Cancer Types and Genetics
Where do the common RAS mutations occur in thyroid cancers, as opposed to most other cancers?
At codon 61 for NRAS and HRAS.
p.5
Gastric Cancer Classification and Genetics
What molecular feature is frequently seen in intestinal-type GC?
A high level of microsatellite instability (MSI-H) is frequently seen in intestinal-type GC.
p.5
Gastric Cancer Classification and Genetics
How is Her2/neu involved in gastric cancer?
The oncogene product Her2/neu is frequently amplified in intestinal-type GC.
p.3
Molecular Mechanisms in Hepatocellular Carcinoma
What is the only curative therapy for Hepatocellular Carcinoma (HCC)?
Surgical resection or liver transplantation.
p.4
Molecular Mechanisms in Hepatocellular Carcinoma
Which gene is involved in IL-22 signaling and immune response and is inhibited in hepatocellular carcinoma (HCC)?
Mitogen-activated protein kinase 1 (MAPK1).
p.2
EGFR Mutations in Lung Cancer
What are the recommended exons to include in routine EGFR assays for NSCLC?
EGFR exon 19 for deletions and insertions, EGFR exon 18 for E709 and G719 mutations.
p.5
Gastric Cancer Classification and Genetics
What other genes or gene products are frequently altered in diffuse-type GC?
The met proto-oncogene and the SC-1 antigen.
p.5
Gastric Cancer Classification and Genetics
What is the most valuable predictive and prognostic factor for GC currently?
Clinical staging independent of cancer type.
p.5
Gastric Cancer Classification and Genetics
How does HER2/neu overexpression relate to the treatment of gastric cancer?
Molecular therapy targeting HER2/neu, such as trastuzumab (Herceptin), is effective in prolonging survival in patients with HER2/neu-positive adenocarcinoma of the stomach and the gastroesophageal junction.
p.3
EGFR Mutations in Lung Cancer
Which mutations are commonly tested for in EGFR-mutated lung adenocarcinomas?
S768I, T790M, L858R, T854, L861Q, and exon 21 mutations.
p.3
EGFR Mutations in Lung Cancer
What is the recommended method for detecting T790M mutation in relapse cases of lung adenocarcinoma?
Cell-free circulating DNA.
p.2
Thyroid Cancer Types and Genetics
What type of cancer shows somatic mutations of RET in 20% to 80% of cases?
Sporadic medullary thyroid carcinoma (MTC).
p.3
Molecular Mechanisms in Hepatocellular Carcinoma
Which genetic alterations are frequent in dysplastic nodules and HCC?
Somatic mutations with TERT.
p.5
Gastric Cancer Classification and Genetics
Which phenotype, originally found in colorectal cancer, has been detected in 24% to 47% of GCs?
The CpG island methylator phenotype.
p.4
Molecular Mechanisms in Hepatocellular Carcinoma
What are the histological features of fibrolamellar carcinoma?
A proliferation of large hepatocytes with abundant granular eosinophilic cytoplasm and round nuclei with prominent, centrally placed nucleoli.
p.3
EGFR Mutations in Lung Cancer
What groups have the highest response rates to TKIs for EGFR-mutated lung adenocarcinoma?
Females, Asians, and nonsmokers with adenocarcinoma.
p.3
Lung Cancer Molecular Pathology
What is the gold standard for detecting ALK rearrangements?
FISH using break-apart probes.
p.4
Molecular Mechanisms in Hepatocellular Carcinoma
What is the defining molecular feature of fibrolamellar carcinoma?
Activation of protein kinase A, typically involving fusion of DNAJB1 and PRKACA genes.
p.4
Molecular Mechanisms in Hepatocellular Carcinoma
What gene is known as TCF1 and acts as a tumor suppressor involved in liver tumorigenesis?
HNF1A (hepatocyte nuclear factor 1a).
p.5
Gastric Cancer Classification and Genetics
What is indicated in the development of GC associated with Helicobacter pylori infection in a mouse model?
Mutation in p73, a member of the p53 family, is indicated in the development of GC associated with H. pylori infection.
p.3
Lung Cancer Molecular Pathology
What type of lung cancer should undergo EGFR and ALK molecular testing according to recent guidelines?
All patients with a lung adenocarcinoma component.
p.4
Molecular Mechanisms in Hepatocellular Carcinoma
What is the status of miR-1249-5p and NUPR1 in non-alcoholic fatty liver disease (NAFLD) related HCC?
miR-1249-5p is activated, and NUPR1 is inhibited.
p.2
Thyroid Cancer Types and Genetics
What is the clinical significance of RAS mutations in thyroid cancers?
They are associated with tumor dedifferentiation, a less favorable prognosis, and metastasis to bone.
p.2
Lung Cancer Molecular Pathology
What are the four principal types of epithelial tumors of the lung?
Squamous cell carcinoma, adenocarcinoma, large cell carcinoma, and small cell carcinoma.
p.4
Molecular Mechanisms in Hepatocellular Carcinoma
Which genes are activated and inhibited in alcohol consumption-related hepatocellular carcinoma (HCC)?
ERBB2 is activated, whereas HNF4A and NUPR1 are inhibited.
p.3
Molecular Mechanisms in Hepatocellular Carcinoma
What subtype of HCC is associated with MYC, mTOR, and NOTCH signaling pathways?
Stem cell subclass of HCC.
p.5
Gastric Cancer Classification and Genetics
What molecular classification did The Cancer Genome Atlas project propose for GC?
The Cancer Genome Atlas project proposed a molecular classification dividing GC into four subtypes: Epstein-Barr virus–associated tumors, microsatellite unstable tumors, genomically stable tumors, and tumors with chromosomal instability.
p.5
Colorectal Cancer Genetic Alterations
What percentage of colorectal cancers (CRCs) show EGFR overexpression?
Up to 80% of CRCs show EGFR overexpression.
p.5
Gastric Cancer Classification and Genetics
How can CDH1 mutations be detected in gastric cancer?
CDH1 mutations can be detected by PCR on paraffin-embedded tissue.
p.2
Thyroid Cancer Types and Genetics
What gene rearrangement results from the translocation t(2;3)(q13;p25) in follicular carcinomas?
The PAX8-PPARG gene rearrangement.
p.2
Thyroid Cancer Types and Genetics
What is the prevalence of germline RET mutations in patients with familial forms of medullary carcinoma?
Almost all patients with familial forms have germline RET mutations.
p.5
Gastric Cancer Classification and Genetics
What percentage of gastric carcinomas (GCs) show mutations of the tumor suppressor gene p53?
38% to 71% of GCs show mutations of the tumor suppressor gene p53.
p.2
EGFR Mutations in Lung Cancer
Which EGFR mutations are most associated with increased sensitivity to TKIs in lung cancer?
Mutations in exons 18 to 21, particularly L858R in exon 21 and small in-frame deletions in exon 19.
p.3
Molecular Mechanisms in Hepatocellular Carcinoma
What is the clinical significance of differential expression of miRNA in HCC?
It has prognostic value and pathogenesis significance.
p.4
Molecular Mechanisms in Hepatocellular Carcinoma
What are the six subtypes of hepatic adenomas (HAs)?
1) HAs with inactivating mutations of hepatocyte nuclear factor 1a (HNF1A; HCA-H), 2) HAs with activating mutations of β-catenin gene (HCA-B) in exon 3, 3) HAs with activating mutations of β-catenin gene (HCA-B) in exons 7 and 8, 4) HAs with inflammatory features and associated with activation of JAK/STAT pathway (HCA-I), 5) HAs with activation of sonic hedgehog signaling (sh-HCA), 6) Unclassified HAs (HCA-U).
p.5
Colorectal Cancer Genetic Alterations
How is colorectal cancer (CRC) development associated with genetic mutations and epigenetic alterations?
Mutations and/or epigenetic alterations in TSGs (e.g., APC, DCC, SMAD-2, SMAD-4, p53) and oncogenes (e.g., KRAS, p53) are molecular determinants during the development of sporadic CRC.
p.2
EGFR Mutations in Lung Cancer
How do EGFR mutations affect EGFR protein function?
They activate its tyrosine kinase activity, leading to uncontrolled cell proliferation, tumor invasion, angiogenesis, and resistance to apoptotic signals.
p.3
Hepatocellular Carcinoma Risk Factors
What are the major risk factors for Hepatocellular Carcinoma (HCC)?
Chronic viral infection (HBV and HCV), alcoholic/nonalcoholic liver disease, environmental carcinogens, and inherited genetic disorders.
p.4
Molecular Mechanisms in Hepatocellular Carcinoma
What are the main characteristics of hepatic adenomas (HAs)?
HAs are benign hepatic neoplasms typically occurring in women of childbearing age, often with a history of long-term use of oral contraceptive drugs. They have various recurrent mutations and are classified into six subtypes based on molecular pathways.
p.3
Molecular Mechanisms in Hepatocellular Carcinoma
What are the two major subtypes of Hepatocellular Carcinoma (HCC) based on genetic mutations?
CTNNB1 (β-catenin) mutations and p53 mutations.
p.3
Lung Cancer Molecular Pathology
In which patient group is the EML4-ALK fusion product commonly found?
Younger patients with lung adenocarcinomas who have either no or only light smoking history.
p.3
Lung Cancer Molecular Pathology
What is the association between KRAS mutations and response to EGFR-TKIs in lung adenocarcinoma?
KRAS mutations are associated with resistance to EGFR-TKIs.
p.3
Lung Cancer Molecular Pathology
What is the role of NGS in lung adenocarcinoma molecular testing?
NGS enables the use of small specimens for multiple molecular marker detection, avoiding the risks associated with obtaining surgical biopsies.
p.1
BRCA1 and BRCA2 Mutations
Which markers do BRCA1-mutated breast carcinomas commonly stain for?
Basal cytokeratins 5/6 and 14, and they are negative for estrogen receptor staining. They also commonly stain for EGFR.
p.1
Thyroid Cancer Types and Genetics
What genetic alterations are involved in thyroid cancer?
Alterations involve BRAF, RAS, RET, and PAX8 genes.
p.5
Gastric Cancer Classification and Genetics
What unique molecular abnormality is associated with diffuse-type GC?
Deficiency in cell-cell adhesion caused by loss or downregulation of the E-cadherin gene (CDH1).
p.1
Thyroid Cancer Types and Genetics
What frequency of RET/PTC rearrangements is found in thyroid cancers?
Up to 20% of sporadic papillary thyroid carcinomas.
p.5
Colorectal Cancer Genetic Alterations
What are cetuximab and panitumumab used for in colorectal cancer (CRC) treatment?
Cetuximab and panitumumab are anti-EGFR monoclonal antibodies used in the treatment of CRCs.
p.1
Papillary Thyroid Carcinoma and BRAF Mutations
What is the most common genetic alteration in papillary carcinoma?
The BRAF mutation, found in approximately 45% of these tumors.
p.4
Molecular Mechanisms in Hepatocellular Carcinoma
What is the significance of mutations in the β-catenin gene (CTNNB1) in hepatocellular carcinoma (HCC) and hepatic adenomas (HAs)?
Mutations in β-catenin can lead to decreased degradation, sustained activation, and nuclear accumulation of β-catenin protein, which is associated with malignant transformation in HCC and HAs.
p.4
Molecular Mechanisms in Hepatocellular Carcinoma
How does the activation of IL-6 receptor signaling affect certain hepatic adenomas (HA-I)?
It promotes activation of the JAK/STAT3 signaling pathway, inducing an acute-phase inflammatory response.
p.1
BRCA1 and BRCA2 Mutations
What has become widespread since the discovery of BRCA genes?
The identification of BRCA-mutation carriers during clinical management of familial cancer cases.
p.1
BRCA1 and BRCA2 Mutations
What increased cancer risks are associated with BRCA2 mutations?
BRCA2 mutations increase the risk for male breast cancer (≈ 75-fold), pancreatic cancer (four-fold to eightfold), and prostate cancer (twofold to fourfold).
p.1
Thyroid Cancer Types and Genetics
What percentage of thyroid cancers are papillary and follicular carcinomas?
Papillary carcinomas constitute approximately 80% and follicular carcinomas about 15% of all thyroid cancers.
p.1
Papillary Thyroid Carcinoma and BRAF Mutations
How prevalent is BRAF V600E mutation in poorly differentiated and anaplastic thyroid carcinomas?
It occurs in 20% to 40% of poorly differentiated and 30% to 40% of anaplastic thyroid carcinomas.
p.1
Papillary Thyroid Carcinoma and BRAF Mutations
What is a defining feature of the cribriform morular variant of papillary carcinoma?
Nuclear β-catenin accumulation.
p.1
BRCA1 and BRCA2 Mutations
What is a hallmark of BRCA-deficient cells?
Spontaneous instability of chromosome structure and number.
p.1
Papillary Thyroid Carcinoma and BRAF Mutations
What are the two classes of papillary thyroid carcinoma (PTC)?
BRAF-V600E-like and RAS-like.
p.1
BRCA1 and BRCA2 Mutations
What is the prognosis for BRCA1-associated tumors?
They commonly carry a poor prognosis and tend to occur in younger women.
p.1
Papillary Thyroid Carcinoma and BRAF Mutations
What is the specific mutation in the BRAF gene that is commonly found in papillary thyroid carcinoma?
T1799A transversion mutation in exon 15, causing a V600E amino acid change.
