Research Topics
Genomes and GenesSpecies | Marina N NikiforovaSummaryAffiliation: University of Pittsburgh Country: USA Publications
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Publications
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinomaMarina N Nikiforova
Department of Pathology and Laboratory Medicine, University of Cincinnati, Cincinnati, Ohio 45267 0529, USA
J Clin Endocrinol Metab 88:2318-26. 2003..These results suggest that conventional follicular thyroid carcinomas develop through at least two distinct and virtually nonoverlapping molecular pathways initiated by either RAS point mutation or PAX8-PPAR gamma rearrangement...- Molecular genetics of thyroid cancer: implications for diagnosis, treatment and prognosisMarina N Nikiforova
Department of Pathology, University of Pittsburgh, 3550 Terrace Street, Pittsburgh, PA 15261, USA
Expert Rev Mol Diagn 8:83-95. 2008..Detection of these genetic alterations using molecular techniques is important for preoperative fine-needle aspiration diagnosis, prognosis and treatment of thyroid cancer... 
Molecular diagnostics of gliomasMarina N Nikiforova
Department of Pathology, University of Pittsburgh, 200 Lothrop Ave, Pittsburgh, PA 15213, USA
Arch Pathol Lab Med 135:558-68. 2011..Some of these markers have shown diagnostic value, whereas others are useful prognosticators for patient survival and therapeutic response...
MicroRNA expression profiling of thyroid tumors: biological significance and diagnostic utilityMarina N Nikiforova
Department of Pathology, University of Pittsburgh, 3550 Terrace Street, Pittsburgh, PA 15261, USA
J Clin Endocrinol Metab 93:1600-8. 2008....- Detection of clonal IGH gene rearrangements: summary of molecular oncology surveys of the College of American PathologistsMarina N Nikiforova
Department of Pathology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
Arch Pathol Lab Med 131:185-9. 2007.... - MicroRNA expression profiles in thyroid tumorsMarina N Nikiforova
Department of Pathology, University of Pittsburgh School of Medicine, 200 Lothrop Street, Pittsburgh, PA 15213, USA
Endocr Pathol 20:85-91. 2009..The purpose of this review is to summarize the existing findings of miRNA deregulation in thyroid tumors and its potential role in thyroid cancer biology and molecular diagnostics... - IDH1 mutations are common in malignant gliomas arising in adolescents: a report from the Children's Oncology GroupIan F Pollack
Department of Neurosurgery, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
Childs Nerv Syst 27:87-94. 2011..Because pediatric malignant gliomas share some molecular features with adult secondary gliomas, we questioned whether a subset of these tumors also exhibited IDH mutations... - EGFR fluorescence in situ hybridization-positive lung adenocarcinoma: incidence of coexisting KRAS and BRAF mutationsSimion Chiosea
Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15213, USA
Hum Pathol 41:1053-60. 2010..Observations presented here indicate that the patient selection for EGFR-targeted therapies should include EGFR and KRAS mutational analysis, probably complemented by EGFR FISH studies... - Prevalence of RET/PTC rearrangements in thyroid papillary carcinomas: effects of the detection methods and genetic heterogeneityZhaowen Zhu
Department of Pathology, University of Cincinnati, 231 Albert Sabin Way, P.O. Box 670529, Cincinnati, Ohio 45267-0529, USA
J Clin Endocrinol Metab 91:3603-10. 2006..CONCLUSIONS: Our data suggest that broad variability in the reported prevalence of RET/PTC rearrangement is at least in part a result of the use of different detection methods and tumor genetic heterogeneity... - Molecular profile and clinical-pathologic features of the follicular variant of papillary thyroid carcinoma. An unusually high prevalence of ras mutationsZhaowen Zhu
Departments of Pathology and Laboratory Medicine, University of Cincinnati, Cincinnati, 231 Albert Sabin Way, PO Box 670529, Cincinnati, OH 45267-0529, USA
Am J Clin Pathol 120:71-7. 2003..These data indicate that the FV of papillary carcinoma has a distinct set of molecular alterations and is characterized by a high frequency of ras point mutations... - Contribution of molecular testing to thyroid fine-needle aspiration cytology of "follicular lesion of undetermined significance/atypia of undetermined significance"N Paul Ohori
Department of Pathology, University of Pittsburgh Medical Center Presbyterian, Pittsburgh, Pennsylvania 15213, USA
Cancer Cytopathol 118:17-23. 2010..The use of ancillary molecular studies has not been widely explored for this diagnosis... - Optimizing surgical treatment of papillary thyroid carcinoma associated with BRAF mutationLinwah Yip
Department of Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
Surgery 146:1215-23. 2009..It is not known whether pre-operative identification of BRAF mutations in cytologic specimens should alter surgical management... - A reappraisal of the MECT1/MAML2 translocation in salivary mucoepidermoid carcinomasRaja R Seethala
Pathology and Laboratory Medicine, University of Pittsburgh, Pittsburgh, PA, USA
Am J Surg Pathol 34:1106-21. 2010..There are 2 distinct subgroups within high-grade MEC, and the translocation negative tumors may actually be more appropriately categorized as another tumor type (such as adenosquamous carcinoma)... - A comparison of EGFR and KRAS status in primary lung carcinoma and matched metastasesSara E Monaco
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15232, USA
Hum Pathol 41:94-102. 2010..Our results suggest that the EGFR and KRAS status of primary lung carcinomas may not predict the status in the corresponding metastases. This observation may have important implications for molecular testing for targeted therapies... - Low prevalence of BRAF mutations in radiation-induced thyroid tumors in contrast to sporadic papillary carcinomasMarina N Nikiforova
Department of Pathology and Laboratory Medicine, University of Cincinnati, 231 Albert Sabin Way, P O Box 670529, Cincinnati, OH 45267 0529, USA
Cancer Lett 209:1-6. 2004..These results demonstrate a significant difference in the molecular genetic profile of sporadic and radiation-induced thyroid tumors... - Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancerRaffaele Ciampi
Department of Pathology and Laboratory Medicine and Division of Endocrinology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267 0529, USA
J Clin Invest 115:94-101. 2005.... - Both BRAF V600E mutation and older age (≥ 65 years) are associated with recurrent papillary thyroid cancerGina M Howell
Department of Surgery, University of Pittsburgh, Pittsburgh, PA, USA
Ann Surg Oncol 18:3566-71. 2011..This study was designed to examine the aggressive features of BRAF-positive papillary thyroid cancer (PTC) and association with age... - Molecular diagnostics and predictors in thyroid cancerMarina N Nikiforova
Department of Pathology and Laboratory Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
Thyroid 19:1351-61. 2009.... - Cost impact of molecular testing for indeterminate thyroid nodule fine-needle aspiration biopsiesLinwah Yip
Department of Surgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA
J Clin Endocrinol Metab 97:1905-12. 2012..We hypothesized that FNA molecular testing of two indeterminate categories (follicular lesion of undetermined significance and follicular/Hürthle cell neoplasm) can be cost saving... - Tumor-to-tumor metastases to follicular variant of papillary thyroid carcinoma: histologic, immunohistochemical, and molecular studies of two unusual casesJing Yu
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA
Endocr Pathol 20:235-42. 2009..A brief review of literature and discussion of tumor-to-tumor metastasis in thyroid neoplasms is also presented... - MicroRNA signature distinguishes the degree of aggressiveness of papillary thyroid carcinomaLinwah Yip
Department of Surgery, Section of Endocrine Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
Ann Surg Oncol 18:2035-41. 2011..MicroRNAs (miRNAs) are dysregulated in various tumors types, and some of them serve as markers of poor prognosis. In this study, we evaluated miRNA expression as a marker of more aggressive behavior in PTC... - BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomasMarina N Nikiforova
Department of Pathology and Laboratory Medicine, University of Cincinnati, Cincinnati, Ohio 45267, USA
J Clin Endocrinol Metab 88:5399-404. 2003..They are associated with distinct phenotypical and biological properties of papillary carcinomas and may participate in progression to poorly differentiated and anaplastic carcinomas... - Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samplesYuri E Nikiforov
Department of Pathology and Laboratory Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA
J Clin Endocrinol Metab 96:3390-7. 2011..Fine-needle aspiration (FNA) cytology provides a definitive diagnosis of benign or malignant disease in many cases, whereas about 25% of nodules are indeterminate, hindering most appropriate management... - Detection of IDH1 and IDH2 mutations by fluorescence melting curve analysis as a diagnostic tool for brain biopsiesCraig Horbinski
Department of Pathology, University of Kentucky, Lexington, Kentucky, USA
J Mol Diagn 12:487-92. 2010.... - Interplay among BRAF, p16, p53, and MIB1 in pediatric low-grade gliomasCraig Horbinski
Department of Pathology, University of Kentucky, MS 155, 800 Rose Street, Lexington, KY 40536, USA
Neuro Oncol 14:777-89. 2012.... - Paradoxical relationship between the degree of EGFR amplification and outcome in glioblastomasJonathan Hobbs
Department of Pathology, University of Kentucky, Lexington, KY 40536, USA
Am J Surg Pathol 36:1186-93. 2012..91, respectively). These results suggest that GBMs with EGFR amplification are a heterogenous group of tumors and that behavior might differ according to the degree of amplification, although not in a straightforward dose-response manner... - The importance of 10q status in an outcomes-based comparison between 1p/19q fluorescence in situ hybridization and polymerase chain reaction-based microsatellite loss of heterozygosity analysis of oligodendrogliomasCraig Horbinski
Department of Pathology, University of Kentucky, Lexington, Kentucky, USA
J Neuropathol Exp Neurol 71:73-82. 2012..Thus, although PCR-based LOH is a better stratifier of 1p/19q status, FISH still has clinical and prognostic utility, especially if 10q data can be incorporated... - Micropapillary lung adenocarcinoma: EGFR, K-ras, and BRAF mutational profileRosane De Oliveira Duarte Achcar
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213 2582, USA
Am J Clin Pathol 131:694-700. 2009..We conclude that K-ras, EGFR, and BRAF mutations are disproportionately seen in adenocarcinomas of lung with a dominant micropapillary growth pattern compared with conventional adenocarcinoma in our institutional experience... - MicroRNA expression array identifies novel diagnostic markers for conventional and oncocytic follicular thyroid carcinomasMatthias Dettmer
Department of Pathology and Laboratory Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania 15213, USA
J Clin Endocrinol Metab 98:E1-7. 2013..The aim of this study was to explore miRNA deregulation and find candidate miRNA markers for follicular carcinomas that can be used diagnostically... - BRAF V600E mutation independently predicts central compartment lymph node metastasis in patients with papillary thyroid cancerGina M Howell
Department of Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
Ann Surg Oncol 20:47-52. 2013..This study was designed to examine whether available preoperative clinical parameters, including B-type Raf kinase (BRAF) V600E mutation status, can identify patients at risk for central compartment lymph node metastasis (CLNM)... - miRNA expression profiling of lung adenocarcinomas: correlation with mutational statusSanja Dacic
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA
Mod Pathol 23:1577-82. 2010..These miRNAs can be further explored for their diagnostic and prognostic use... - Mismatch repair deficiency is an uncommon mechanism of alkylator resistance in pediatric malignant gliomas: a report from the Children's Oncology GroupIan F Pollack
Department of Neurosurgery, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
Pediatr Blood Cancer 55:1066-71. 2010..However, the frequency of this abnormality as a clinical resistance mechanism in childhood malignant gliomas has not been well characterized... - The prognostic value of Ki-67, p53, epidermal growth factor receptor, 1p36, 9p21, 10q23, and 17p13 in skull base chordomasCraig Horbinski
Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
Arch Pathol Lab Med 134:1170-6. 2010..Skull base chordomas are rare, locally aggressive, notochord-derived neoplasms for which prognostically relevant biomarkers are not well established... - Cytomorphological and molecular genetic findings in pediatric thyroid fine-needle aspirationSara E Monaco
Department of Pathology, University of Pittsburgh Medical Center, Pennsylvania, USA
Cancer Cytopathol 120:342-50. 2012..Although thyroid nodules in children are rare, the rate of malignancy is high. The authors' aim was to analyze the cytomorphology and mutational profiles in pediatric thyroid fine-needle aspirations (FNAs)... - MicroRNA dysregulation in human thyroid cells following exposure to ionizing radiationMarina N Nikiforova
Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
Thyroid 21:261-6. 2011..The goal of this study was to investigate the effects of acute exposure to 1 and 10 Gy of γ-irradiation on miRNA expression in normal human thyroid cells... - Prospective testing of mucoepidermoid carcinoma for the MAML2 translocation: clinical implicationsSimion I Chiosea
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA
Laryngoscope 122:1690-4. 2012..Mucoepidermoid carcinoma (MEC) with MAML2 translocation is believed to be associated with lower clinical stage, lower histologic grade, and better outcome. We summarized our prospective experience testing MEC for the MAML2 translocation... - Mammalian mastermind like 2 11q21 gene rearrangement in bronchopulmonary mucoepidermoid carcinomaRosane de Oliveira Duarte Achcar
Department of Pathology, University of Pittsburgh Medical Center, Presbyterian University Hospital, PA 15213, USA
Hum Pathol 40:854-60. 2009.... - High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinomaEdna T Kimura
Division of Endocrinology and Metabolism, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA
Cancer Res 63:1454-7. 2003..Because these signaling proteins function along the same pathway in thyroid cells, this represents a unique paradigm of human tumorigenesis through mutation of three signaling effectors lying in tandem... - Detection of SYT-SSX rearrangements in synovial sarcomas by real-time one-step RT-PCRMarina N Nikiforova
Department of Pathology, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
Pediatr Dev Pathol 8:162-7. 2005..In conclusion, we have developed a fast, accurate, and simple method for the detection of 2 major types of SYT-SSX rearrangement by using LightCycler RT-PCR and melting curve analysis... - Diagnostic use of IDH1/2 mutation analysis in routine clinical testing of formalin-fixed, paraffin-embedded glioma tissuesCraig Horbinski
Department of Pathology, University of Kentucky, Kentucky, University of Pittsburgh, Pittsburgh, PA 15213, USA
J Neuropathol Exp Neurol 68:1319-25. 2009..These results indicate that testing for IDH1/2 mutations can be effectively performed in a clinical setting and can enhance the accuracy of diagnosis of gliomas when traditional diagnostic methods are not definitive... - Akt activation is a common event in pediatric malignant gliomas and a potential adverse prognostic marker: a report from the Children's Oncology GroupIan F Pollack
Department of Neurosurgery, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
J Neurooncol 99:155-63. 2010..In view of the frequency of Akt activation, the evaluation of molecularly targeted therapies that inhibit this pathway warrants consideration for these tumors... - Loss of heterozygosity predicts poor survival after resection of pancreatic adenocarcinomaJan Franko
UPMC Pancreatic Cancer Center, Division of Surgical Oncology, 497 Scaife Hall, 3550 Terrace Street, Pittsburgh, PA 15261, USA
J Gastrointest Surg 12:1664-72; discussion 1672-3. 2008..We hypothesized that genetic analysis of resected cancers would correlate with tumor biology and postoperative survival... - PAX8-PPARgamma rearrangement in thyroid tumors: RT-PCR and immunohistochemical analysesMarina N Nikiforova
Department of Pathology and Laboratory Medicine, University of Cincinnati, Cincinnati, Ohio 45267 0529, USA
Am J Surg Pathol 26:1016-23. 2002..The absence of PAX8-PPARgamma rearrangements in Hurthle cell tumors and papillary thyroid carcinomas highlights the differences in the molecular pathogenesis of these thyroid tumors... - Homologous chromosomes make contact at the sites of double-strand breaks in genes in somatic G0/G1-phase human cellsManoj Gandhi
Department of Pathology and Laboratory Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA
Proc Natl Acad Sci U S A 109:9454-9. 2012..Our findings provide documentation of a common transcription-related and ATM kinase-dependent mechanism that induces contact between allelic regions of homologous chromosomes at sites of DSBs in human somatic cells... - Grade II oligodendroglioma localized to the corpus callosumEdward A Monaco
Department of Neurological Surgery, UPMC Presbyterian, University of Pittsburgh Medical Center, Suite B 400, 200 Lothrop Street, Pittsburgh, PA 15213, USA
Brain Tumor Pathol 28:305-9. 2011..Histopathologic diagnosis is essential to appropriately guide therapy of callosal tumors... - Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodulesYuri E Nikiforov
Department of Pathology, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA
J Clin Endocrinol Metab 94:2092-8. 2009..However, 10-40% of nodules are diagnosed as indeterminate by cytology, making it difficult to optimally manage these patients... - Clinical laboratory reports in molecular pathologyMargaret L Gulley
Department of Pathology, 913 Brinkhous Bullitt Bldg, University of North Carolina, Chapel Hill, NC 27599 7525, USA
Arch Pathol Lab Med 131:852-63. 2007..The recent introduction of array technology has added another layer of complexity involving massive parallel analysis of multiple genes, transcripts, or proteins... - Gene position within chromosome territories correlates with their involvement in distinct rearrangement types in thyroid cancer cellsManoj S Gandhi
Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15261, USA
Genes Chromosomes Cancer 48:222-8. 2009.... - Molecular genetics and diagnosis of thyroid cancerYuri E Nikiforov
Department of Pathology and Laboratory Medicine, University of Pittsburgh School of Medicine, PUH C 606, 200 Lothrop Street, Pittsburgh, PA 15213, USA
Nat Rev Endocrinol 7:569-80. 2011.... - LOH in the HLA Class I Region at 6p21 Is Associated with Shorter Survival in Newly Diagnosed Adult GlioblastomaJacky T Yeung
Authors Affiliations Departments of Neurological Surgery, Pathology, Surgery and Immunology, and Pediatrics, University of Pittsburgh School of Medicine Department of Biostatistics, Graduate School of Public Health and Brain Tumor Program and Biostatistics Facility, University of Pittsburgh Cancer Institute, University of Pittsburgh, Pittsburgh, Pennsylvania
Clin Cancer Res 19:1816-26. 2013..In this study, we examined the prevalence of these LOH events and their relations with overall survival in GBM... - A novel COLD-PCR/FMCA assay enhances the detection of low-abundance IDH1 mutations in gliomasBrendan Pang
Division of Molecular Anatomic Pathology, University of Pittsburgh, Pittsburgh, PA 15213, USA
Diagn Mol Pathol 22:28-34. 2013..In summary, we report a novel COLD-PCR/FMCA method that provides rapid and sensitive detection of IDH1 mutations in formalin-fixed paraffin-embedded tissue and can be used in the clinical setting to assess the small brain biopsies... - Challenging cases encountered in colorectal cancer screening for Lynch syndrome reveal novel findings: nucleolar MSH6 staining and impact of prior chemoradiation therapyOana M Radu
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213 2546, USA
Hum Pathol 42:1247-58. 2011..We feel that it is important to report these cases so that potential pitfalls in screening for Lynch syndrome can be avoided... - Loss of heterozygosity of selected tumor suppressor genes in parathyroid carcinomaLinwah Yip
Division of Endocrine Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
Surgery 144:949-55; discussion 954-5. 2008..The histologic diagnosis of parathyroid carcinoma (PC) is challenging. We evaluated a large PC series for loss of heterozygosity (LOH) of selected tumor suppressor genes with histopathologic correlation... - Prevalence of RET/PTC rearrangements in Hashimoto's thyroiditis and papillary thyroid carcinomasMarina N Nikiforova
Department of Pathology and Laboratory Medicine, University of Cincinnati, 231 Albert Sabin Way, Cincinnati, OH 45267 0529, USA
Int J Surg Pathol 10:15-22. 2002..These results suggest that, if the association between HT and thyroid cancer exists, its molecular basis is different from RET/PTC rearrangement... - Regulation of p27Kip1 protein levels contributes to mitogenic effects of the RET/PTC kinase in thyroid carcinoma cellsDonata Vitagliano
Dipartimento di Biologia e Patologia Cellulare e Molecolare, University 'Federico II' c/o Istituto di Endocrinologia ed Oncologia Sperimentale, Consiglio Nazionale delle Ricerche, Naples, Italy
Cancer Res 64:3823-9. 2004..Therefore, in thyroid cancer, RET/PTC-mediated MAPK activation contributes to p27Kip1 deregulation. This pathway is implicated in cell cycle progression and in response to small molecule kinase inhibitors...