How does the fusion of TMPRSS2 to ETS family genes affect their expression?
Click to see answer
It leads to overexpression of the ETS family of genes.
Click to see question
How does the fusion of TMPRSS2 to ETS family genes affect their expression?
It leads to overexpression of the ETS family of genes.
What roles do HPV E6 and E7 proteins play in cervical carcinogenesis?
E6 protein binds to p53 tumor suppressor protein and E7 protein binds to retinoblastoma TSG product pRB, leading to inactivation and initiating cervical carcinogenesis.
What gene located at 9p21.3 acts as a tumor suppressor in cervical cancer?
The p16 (CDKN2A or MTS1) gene.
What clinical significance do angiogenesis genes have in RCC?
Angiogenesis genes are overexpressed in clear-cell RCC, related to VHL and HIF1A dysregulation, leading to the activation of multiple angiogenic tyrosine kinase molecules.
What regulates TMPRSS2 in prostate cancer?
Androgen and estrogen.
What fusion genes are commonly associated with Xp11 translocation renal cell carcinoma?
ASPL-TFE3 and PRCC-TFE3 fusion genes.
What primary cause is responsible for cervical cancer?
HPV infection.
Which proteins' expression levels are often analyzed in endometrial cancer types like serous adenocarcinoma and clear-cell adenocarcinoma?
Estrogen receptor (ER), progesterone receptor (PR), Ki-67, and p53.
What translocation is associated with ALK Translocation RCC?
The t(2;10)(p23;q22) translocation.
What combination has significantly improved the sensitivity and specificity of the diagnosis of precancerous lesions and cervical cancer?
The combination of HPV testing and Pap smear evaluation.
Which gene is associated with endometrioid adenocarcinoma showing 26% mutation rates?
The K-Ras gene.
What syndrome is characterized by a predilection to pheochromocytoma, paraganglioma, and type 2 gastrointestinal stromal tumors?
Pheochromocytoma/paraganglioma syndrome type 4 (PGL4).
What significance does the loss of PTEN have in LGNETs?
Loss of PTEN correlates significantly with the positive expression of pAKT and aggressive behavior of LGNETs.
Which oncogene is highly expressed and amplified in primary and metastatic prostate cancer?
Myc oncogene located at 8q24.
What does the Prolaris test measure to assess prostate cancer progression risk?
Measures tumor cell growth characteristics by testing 46 different gene expressions including 31 cell-cycle progression genes and 15 housekeeper genes.
What percentage of CIN3 and invasive cervical cancers showed diffuse p16 expression?
96%.
Which chromosomal alterations are common in flat (and papillary) urothelial hyperplasia associated with low-grade UC?
Genetic alterations in chromosome 9.
What are some histologic features associated with the presence of gene fusion in prostate cancer?
Blue-tinged mucin, cribriform growth pattern, macronucleoli, intraductal tumor spread, and signet ring cell features.
What does the Aptima HPV assay target for detection?
It targets the detection of E6/E7 mRNA.
What is a key function of the p16 protein in cell cycle regulation?
It inhibits interactions between CDK4/CDK6 and cyclin D1, blocking G1 to S phase progression.
What percentage of bladder cancer cases are urothelial carcinoma?
About 90%.
What are the common chromosomal abnormalities associated with papillary RCC?
Trisomies of chromosomes 7 and 17 and loss of chromosome Y.
What is the function of Oncotype DX in prostate cancer diagnosis?
Measures the expression of 12 cancer-related genes to calculate the Genomic Prostate Score (GPS) for risk discrimination.
Which test can report individually on HPV-16 and HPV-18 subtypes within a pool of high-risk subtypes?
The Cobas HPV test.
What markers do t(6;11) RCCs consistently express?
They consistently express melanocytic IHC markers such as HMB-45 and Melan-A, but are either negative or only focally positive for epithelial markers such as cytokeratins.
What genes are involved in the fusion observed in ALK Translocation RCC?
The fusion involves the gene for the cytoskeletal protein vinculin (VCL) with the anaplastic lymphoma kinase (ALK) gene.
What chromosomal rearrangement is recurrent in prostate cancer?
Fusion of TMPRSS2 (21q22.3) to ETS family transcription factors.
Which transcription factors are involved in translocation renal tumors?
Transcription factors binding to IGHM enhancer 3 (TFE3) and transcription factor EB (TFEB).
How are LGSC carcinomas characterized in terms of genetic mutations?
They are characterized by KRAS or BRAF mutations but lack TP53 mutations.
What is a sensitive and specific marker for SDHB mutation-associated RCCs?
Loss of the SDHB protein by IHC.
Why do invasive UCs demonstrate immunoreactivity for cytokeratins 7 and 20, p63, and CK903?
These markers are commonly associated with the molecular alterations in invasive UCs.
Which gene is consistently inactivated in familial renal cancer syndromes and in many sporadic cases?
The VHL gene located on chromosome 3p25.
What role does FOXP3 play in relation to Myc expression in prostate cancer?
FOXP3 binds to the promoter region of Myc and represses its transcription. Loss of FOXP3 leads to increased Myc expression.
What does the Decipher test predict in prostate cancer?
Predicts treatment response using a 22-gene panel spanning genes involved in cell proliferation, cell cycle, differentiation, adhesion, and androgen pathway.
What are the frequent genetic mutations in low-grade serous and mucinous adenocarcinomas of ovarian cancer?
KRAS and B-RAF mutations.
Which protein's mutations are associated with destabilizing histone-DNA complexes in endometrial cancer?
Mutations in the ARID1A protein.
What is the most frequently used serum biomarker in diagnosing prostate cancer?
Prostate-specific antigen (PSA).
What percentage of clear cell RCC cases show chromosome 3p deletion?
70% to 90% of cases.
What is the characteristic feature of translocation renal cell carcinoma?
It involves somatic translocations of transcription factors that are members of the MiT family.
What does the Digene Hybrid Capture test detect?
The test detects 14 HPV types, including high-risk types HPV 16, 18, 31, 33, 35, 45, 51, 52, and 56, and low-risk types HPV 6, 11, 42, 43, and 44.
What genetic mutation is commonly found in high-grade serous carcinomas of ovarian cancer?
TP53 gene mutations.
What is the characteristic morphology of RCCs associated with SDHB mutations?
These neoplasms are usually unencapsulated and composed of compact nests of eosinophilic polygonal cells, with entrapped renal tubules at the periphery.
What percentage of high-grade papillary UC tumors with FGFR3 mutations have distinctive histologic features?
Approximately 70% to 80%.
What is the role of the VHL protein in tumor growth?
The VHL protein regulates the expression of the transcription factor, hypoxia-inducible factor (HIF), which is implicated in tumor growth and angiogenesis.
What is the significance of PTEN loss in prostate cancer?
PTEN loss correlates with high Gleason score, advanced stage, and results in a hyperactive PI3K/Akt pathway promoting cancer progression.
How is chemiluminescence measured in the Hybrid Capture test?
It is measured in relative light units (RLUs) after being detected by a signaling antibody conjugated to alkaline phosphatase.
What is the typical morphology of t(6;11) RCC?
It typically demonstrates a distinctive biphasic morphology, comprising larger and smaller epithelioid cells, with the latter often clustered around basement membrane material.
What is the fourth most common type of cancer in incidence among women in Western countries?
Endometrial cancer.
What genetic alterations are associated with type I and type II hereditary papillary renal cell carcinoma (PRCC)?
Type I PRCCs are characterized by MET alterations, whereas type II PRCCs involve CDKN2A silencing, SETD2 mutations, and increased expression of the NRF2-antioxidant response element pathway.
What types of HPV are most responsible for cervical cancer cases worldwide?
HPV-16 and HPV-18.
What is a sensitive and specific assay for t(6;11) RCC?
Nuclear labeling for TFEB protein by IHC.
What is a common mutation found in the chromophobe histology in hereditary RCC syndrome (Birt-Hogg-Dubé [BHD] syndrome)?
Mutations in the folliculin (FLCN) gene.
What are the distinct immunohistochemical features of Xp11.2-associated renal carcinomas?
They characteristically underexpress cytokeratin, epithelial membrane, and vimentin antigen but consistently label for the RCC marker antigen and CD10.
What percentage of endometrioid carcinomas are associated with Lynch syndrome?
Approximately 5%.
What mutation is associated with pheochromocytoma/paraganglioma syndrome type 4 (PGL4) in renal carcinomas?
Succinate Dehydrogenase B (SDHB) mutation.
What mutation is commonly associated with noninvasive low-grade papillary UCs?
Activating mutations in the fibroblast growth factor receptor-3 (FGFR3) gene.
