Browsing by Subject "Fluorescence in situ hybridization"

Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q
    (Wiley, 1998-02-26) Vance, Gail H.; Nickerson, Catherine; Sarnat, Lauren; Zhang, Aiwu; Henegariu, Octavian; Morichon-Delvallez, Nicole; Butler, Merlin G.; Palmer, Catherine G.; Medical and Molecular Genetics, School of Medicine
    The holoprosencephaly (HPE) sequence is a malformation complex with abnormal midline cleavage of the embryonic forebrain. HPE is genetically heterogeneous with at least 6 different chromosome regions containing genes involved in the expression of the phenotype. HPE3, recently identified as the human Sonic hedgehog gene, is localized to 7q36. We have used fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) amplification in 5 cell lines from patients with HPE (3 cases), HPE and sacral agenesis (1 case), and microcephaly (1 case) to further define the structural rearrangements of the long arm of chromosome 7 in each case. All cell lines demonstrated loss of material in the critical region of HPE3 at band 7q36, which includes the Sonic hedgehog gene. We report here the analysis of these patient cell lines.
  • Thumbnail Image
    Item
    Molecular subtyping of metastatic renal cell carcinoma: implications for targeted therapy
    (Springer Nature, 2014-02-26) Wang, Lisha; Williamson, Sean R.; Wang, Mingsheng; Davidson, Darrell D.; Zhang, Shaobo; Baldridge, Lee Ann; Du, Xiang; Cheng, Liang; Pathology and Laboratory Medicine, School of Medicine
    Background: Renal cell carcinoma (RCC) is known for its ability to metastasize synchronously or metachronously to various anatomic sites. Distinguishing histologic subtypes of metastatic RCC has become increasingly important, as prognosis and therapy can differ dramatically between subtypes. We propose a combination of immunohistochemistry (IHC) and molecular cytogenetics for subtyping metastatic RCC in light of these potential therapeutic implications. Results: Specimens from 103 cases of metastatic RCC were retrieved, including 32 cases originally diagnosed as metastatic clear cell renal cell carcinoma (CCRCC), 8 as metastatic papillary renal cell carcinoma (PRCC), and 63 metastatic RCC without a specific subtype. Immunohistochemistry was performed with antibodies against cytokeratin 7 (CK7) and alpha-methylacyl-CoA racemase (AMACR). Dual color interphase fluorescence in situ hybridization was utilized to assess for deletion of chromosome 3p and trisomy of chromosomes 7 and 17 in all tumors. Chromosome 3p deletion was detected in 41% of all metastatic RCC specimens, and trisomy of chromosomes 7 and/or 17 was detected in 16%. Of metastatic CCRCC, chromosome 3p deletion was detected in 63%. Of metastatic PRCC, 75% showed trisomy of chromosomes 7 and/or 17. Of the tumors not previously classified, 6% were positive for CK7, and 64% were positive for AMACR; 35% showed chromosome 3p deletion, and 16% showed trisomy of chromosomes 7 and/or 17. Combined analysis of immunohistochemistry and cytogenetics enabled reclassification of 52% of these metastatic tumors not previously classified. Conclusion: Our findings support the utility of immunohistochemistry and cytogenetics for subtyping metastatic RCC.