Many different types of genetic alterations have been identified in tumors, including single base mutations, insertions, deletions, gains or losses of specific genes, chromosomal regions and entire chromosomes. No single technology can accurately detect the wide variety of possible mutations. At ProPath, our experts are highly trained and experienced in the use, and interpretation, of a wide variety of molecular technologies. Our experts select technology platforms best suited for the sensitive, and specific analyses, of tumors. The technologies available in our state-of-the-art laboratory include cytogenetic (karyotype) analysis, fluorescence in-situ hybridization (FISH), PCR, RT-PCR, quantitative real-time PCR, Next-Generation Sequencing, Sanger sequencing, pyrosequencing, transcription-mediated amplification, and others.
Molecular Diagnostics Publications
T-cell Leukemia/Lymphoma
Hosler GA, Liégeois N, Anhalt GJ, Moresi JM. Transformation of cutaneous gamma/delta T-cell lymphoma following 15 years of indolent behavior. J Cutan Pathol. 2008;35(11):1063-1067.
Hosler GA, Bash R, Scheuermann RH. Kinetics of early therapeutic response as measured by quantitative PCR predicts survival in a murine xenograft model of human T cell acute lymphoblastic leukemia. Leukemia. 2000;14(7):1215-1224.
Hosler GA, Bash RO, Bai X, Jain V, Scheuermann RH. Development and validation of a quantitative polymerase chain reaction assay to evaluate minimal residual disease for T-cell acute lymphoblastic leukemia and follicular lymphoma. Am J Pathol. 1999;154(4):1023-1035.
Berg KD, Brinster NK, Huhn KM, Goggins MG, Jones RJ, Makary A, Murphy KM, Griffin CA, Rosenblum-Vos LS, Borowitz MJ, Nousari HC, Eshleman JR. Transmission of a T-cell lymphoma by allogeneic bone marrow transplantation. N Engl J Med. 2001;345(20):1458-1463.
Batista DAS, Vonderheid EC, Hawkins A, Morsberger L, Long P, Murphy KM, Griffin CA. Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sé zary syndrome: search for recurrent chromosome abnormalities. Genes Chromosomes Cancer. 2006;45:383-391.
Acute Myelogenous Leukemia (AML)/FLT3
Murphy KM, Levis M, Hafez MJ, et al. Detection of FLT3 internal tandem duplication and D835 mutations by a multiplex polymerase chain reaction and capillary electrophoresis assay. J Mol Diagn. 2003;5(2):96-102.
Ansari-Lari MA, Yang CF, Tinawi-Aljundi R, Cooper L, Long P, Allan RH, Borowitz MJ, Berg KD, Murphy KM. FLT3 mutations in myeloid sarcoma. Br J Haematol. 2004;126(6):785-791.
Smith BD, Levis M, Beran M, Giles F, Kantarjian H, Berg K, Murphy KM, Dauses T, Allebach J, Small D. Single agent CEP 701, a novel FLT3 inhibitor, shows biologic and clinical activity in patients with relapsed or refractory acute myeloid leukaemia. Blood. 2004;103(10):3669-3676.
Levis M, Murphy KM, Pham R, Kim KT, Stine A, Li L, McNiece I, Smith BD, Small D. Internal tandem duplications of the FLT3 gene are present in leukemia stem cells. Blood. 2005; 106(2):673-680.
Pratz KW, Sato T, Murphy KM, Stine A, Rajkhowa T, Levis M. FLT3-mutant allelic burden and clinical status are predictive of response to FLT3 inhibitors in AML. Blood. 2010;115(7):1425-1432.
Chronic Myelogenous Leukemia (CML)/BCR-ABL
Jinawath N, Norris-Kirby A, Smith BD, Gocke CD, Batista DA, Griffin CA, Murphy KM. A rare e14a3 (b3a3) BCR-ABL fusion transcript in chronic myeloid leukemia: diagnostic challenges in clinical laboratory practice. J Mol Diagn. 2009;11(4):359-363.
Smith BD, Kasamon YL, Kowalski J, Gocke C, Murphy KM, Miller CB, Garrett-Mayer E, Tsai HL, Qin L, Chia C, Biedrzycki B, Harding TC, Tu GH, Jones R, Hege K, Levitsky HI. K562/GM-CSF immunotherapy reduces tumor burden in chronic myeloid leukemia patients with residual disease on imatinib mesylate. Clin Cancer Res. 2010;16(1):338-347.
Batista DAS, Hawkins A, Murphy KM, Griffin CA. BCR/ABL rearrangement in two cases of Philadelphia chromosome negative chronic myeloid leukemia: Deletion on the derivative chromosome 9 may or not be present. Cancer Genet Cytogenet. 2005;163(2):164-167.
Gliomas
Peaston AE, Gardaneh M, Franco A, Hocker JE, Murphy KM, Farnsworth ML, Catchpoole DR, Haber M, Norris MD, Lock RB, Marshall GM. MRP1 gene expression level regulates the death and differentiation response of neuroblastoma cells. Br J Cancer. 2001;85(10):1564-1571.
Hatanpaa KJ, Burger PC, Eshleman JR, Murphy KM, Berg KD. Molecular diagnosis of oligodendroglioma in paraffin sections. Lab Investig. 2003;83(3):419-428.
Wang M, Murphy KM, Kulesza P, Hatanpaa KJ, Olivi A, Tufaro A, Erozan Y, Westra WH, Burger PC, Berg KD. Molecular diagnosis of metastasizing oligodendroglioma: a case report. J Mol Diagn. 2004;6(1):52-57.
Rand V, Huang J, Stockwell T, Ferriera S, Buzko O, Levy S, Busam D, Li K, Edwards JB, Eberhart C, Murphy KM, Tsiamouri A, Beeson K, Simpson AJ, Venter JC, Riggins GJ, Strausberg RL. Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas. Proc Natl Acad Sci U S A. 2005;102(40):14344-14349.
Griffin CA, Burger P, Morsberger L, Yonescu R, Swierczynski S, Weingart JD, Murphy KM. Identification of der(1;19)(q10;p10) in five oligodendrogliomas suggests mechanism of concurrent 1p and 19q loss.
J Neuropathol Exp Neurol. 2006;65(10):988-994.
Colorectal Cancer
Hempen PM, Zhang L, Bansal RK, Iacobuzio-Donahue CA, Murphy KM, Maitra A, Vogelstein B, Whitehead RH, Markowitz SD, Willson JK, Yeo CJ, Hruban RH, Kern SE. Evidence of selection for clones having genetic inactivation of the activin A type II receptor (ACVR2) gene in gastrointestinal cancers. Cancer Res. 2003;63(5):994-999.
Murphy KM, Zhang S, Geiger T, Hafez MJ, Bacher J, Berg KD, Eshleman JR. Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers. J Mol Diagnostics. 2006;8(3):305-311.
Tsiatis AC, Norris-Kirby A, Rich RG, Hafez MJ, Gocke CD, Eshleman JR, Murphy KM. Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications. J Mol Diagn. 2010;12(4):425-432.
Pancreatic Carcinoma
Su GH, Bansal R, Murphy KM, Montgomery E, Yeo CJ, Hruban RH, Kern SE: ACVR1B (ALK4, activin receptor type 1B) gene mutations in pancreatic carcinoma. Proc Natl Acad Sci U S A. 2001;98(6):3254-3257.
Murphy KM, Brune KA, Griffin C, Sollenberger JE, Petersen GM, Bansal R, Hruban RH, Kern SE: Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res. 2002;62(13):3789-3793.
Cao D, Hustinx SR, Sui G, Bala P, Sato N, Martin S, Maitra A, Murphy KM, Cameron JL, Yeo CJ, Kern SE, Goggins M, Pandey A, Hruban RH. Identification of novel highly expressed genes in pancreatic ductal adenocarcinomas through a bioinformatics analysis of expressed sequence tags. Cancer Biol Ther. 2004;3(11):1081-1089.
Rogers CD, Couch FJ, Brune K, Martin ST, Philips J, Murphy KM, Petersen G, Yeo CJ, Hruban RH, Goggins M. Genetics of the FANCA gene in familial pancreatic cancer. J Med Genet. 2004;41(12):e126-e126.
Karanjawala ZE, Illei PB, Ashfaq R, Infante J, Murphy KM, Pandey A, Schulick R, Winter J, Sharma R, Maitra A, Goggins M, Hruban R. New markers of pancreatic cancer identified through differential gene expression analyses: claudin 18 and annexin A8. Am J Surg Pathol. 2008;32(2):188-196.
Thyroid Carcimona
Rosenbaum E, Hosler GA, Zahurak M, Cohen Y, Sidransky D, Westra WH. Mutational activation of BRAF is not a major event in sporadic childhood papillary thyroid carcinoma. Mod Pathol. 2005;18(7):898-902.
Murphy KM, Chen F, Clark DP. Identification of immunohistochemical biomarkers for papillary thyroid carcinoma using gene expression profiling. Hum Pathol. 2008;39(3):420-426.
Identity Testing In The Clinical Lab
Berg KD, Murphy KM. “Floaters” in surgical pathology tissues: genetic identity testing potential and pitfalls. Pathol Case Rev. 2003;8:3103-10.
Cao D, Hafez M, Berg K, Murphy KM, Epstein JI. Little or no residual prostate cancer at radical prostatectomy: vanishing cancer or switched specimen?: a microsatellite analysis of specimen identity. Am J Surg Pathol. 2005;29(4):467-473.
Books
Hosler GA, Murphy KM. Molecular Diagnostics in Dermatology: Practical Applications of Molecular Testing for the Diagnosis and Management of the Dermatology Patient. Berlin, Germany: Springer; 2014.
