Marina N Nikiforova

Summary

Affiliation: University of Pittsburgh
Country: USA

Publications

  1. ncbi request reprint RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma
    Marina N Nikiforova
    Department of Pathology and Laboratory Medicine, University of Cincinnati, Cincinnati, Ohio 45267 0529, USA
    J Clin Endocrinol Metab 88:2318-26. 2003
  2. doi request reprint Molecular diagnostics of gliomas
    Marina N Nikiforova
    Department of Pathology, University of Pittsburgh, 200 Lothrop Ave, Pittsburgh, PA 15213, USA
    Arch Pathol Lab Med 135:558-68. 2011
  3. pmc MicroRNA expression profiling of thyroid tumors: biological significance and diagnostic utility
    Marina N Nikiforova
    Department of Pathology, University of Pittsburgh, 3550 Terrace Street, Pittsburgh, PA 15261, USA
    J Clin Endocrinol Metab 93:1600-8. 2008
  4. ncbi request reprint Detection of clonal IGH gene rearrangements: summary of molecular oncology surveys of the College of American Pathologists
    Marina N Nikiforova
    Department of Pathology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Arch Pathol Lab Med 131:185-9. 2007
  5. doi request reprint MicroRNA expression profiles in thyroid tumors
    Marina N Nikiforova
    Department of Pathology, University of Pittsburgh School of Medicine, 200 Lothrop Street, Pittsburgh, PA 15213, USA
    Endocr Pathol 20:85-91. 2009
  6. ncbi request reprint Molecular genetics of thyroid cancer: implications for diagnosis, treatment and prognosis
    Marina N Nikiforova
    Department of Pathology, University of Pittsburgh, 3550 Terrace Street, Pittsburgh, PA 15261, USA
    Expert Rev Mol Diagn 8:83-95. 2008
  7. pmc IDH1 mutations are common in malignant gliomas arising in adolescents: a report from the Children's Oncology Group
    Ian 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
  8. doi request reprint EGFR fluorescence in situ hybridization-positive lung adenocarcinoma: incidence of coexisting KRAS and BRAF mutations
    Simion Chiosea
    Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15213, USA
    Hum Pathol 41:1053-60. 2010
  9. ncbi request reprint Molecular profile and clinical-pathologic features of the follicular variant of papillary thyroid carcinoma. An unusually high prevalence of ras mutations
    Zhaowen 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
  10. ncbi request reprint Prevalence of RET/PTC rearrangements in thyroid papillary carcinomas: effects of the detection methods and genetic heterogeneity
    Zhaowen 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

Detail Information

Publications70

  1. ncbi request reprint RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma
    Marina 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...
  2. doi request reprint Molecular diagnostics of gliomas
    Marina 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...
  3. pmc MicroRNA expression profiling of thyroid tumors: biological significance and diagnostic utility
    Marina N Nikiforova
    Department of Pathology, University of Pittsburgh, 3550 Terrace Street, Pittsburgh, PA 15261, USA
    J Clin Endocrinol Metab 93:1600-8. 2008
    ....
  4. ncbi request reprint Detection of clonal IGH gene rearrangements: summary of molecular oncology surveys of the College of American Pathologists
    Marina N Nikiforova
    Department of Pathology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Arch Pathol Lab Med 131:185-9. 2007
    ....
  5. doi request reprint MicroRNA expression profiles in thyroid tumors
    Marina 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...
  6. ncbi request reprint Molecular genetics of thyroid cancer: implications for diagnosis, treatment and prognosis
    Marina 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...
  7. pmc IDH1 mutations are common in malignant gliomas arising in adolescents: a report from the Children's Oncology Group
    Ian 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...
  8. doi request reprint EGFR fluorescence in situ hybridization-positive lung adenocarcinoma: incidence of coexisting KRAS and BRAF mutations
    Simion 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...
  9. ncbi request reprint Molecular profile and clinical-pathologic features of the follicular variant of papillary thyroid carcinoma. An unusually high prevalence of ras mutations
    Zhaowen 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...
  10. ncbi request reprint Prevalence of RET/PTC rearrangements in thyroid papillary carcinomas: effects of the detection methods and genetic heterogeneity
    Zhaowen 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
    ..RET/PTC rearrangements have been reported in papillary thyroid carcinomas with variable frequency in studies that used different detection methods...
  11. ncbi request reprint "Colloid-rich" follicular neoplasm/suspicious for follicular neoplasm thyroid fine-needle aspiration specimens: cytologic, histologic, and molecular basis for considering an alternate view
    N Paul Ohori
    Department of Pathology, University of Pittsburgh Medical Center Presbyterian, Pittsburgh, Pennsylvania
    Cancer Cytopathol 121:718-28. 2013
    ..Recently, cases have been noted with microfollicular cellularity in the background of moderate to abundant amount of colloid. The purpose of this study was to compare these "colloid-rich" FN/SFN cases to the typical FN/SFN cases...
  12. doi request reprint BRAF V600E mutation independently predicts central compartment lymph node metastasis in patients with papillary thyroid cancer
    Gina 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)...
  13. ncbi request reprint Optimizing surgical treatment of papillary thyroid carcinoma associated with BRAF mutation
    Linwah 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...
  14. doi request reprint 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...
  15. ncbi request reprint A reappraisal of the MECT1/MAML2 translocation in salivary mucoepidermoid carcinomas
    Raja 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)...
  16. pmc Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer
    Raffaele 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
    ....
  17. doi request reprint A comparison of EGFR and KRAS status in primary lung carcinoma and matched metastases
    Sara 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...
  18. ncbi request reprint Low prevalence of BRAF mutations in radiation-induced thyroid tumors in contrast to sporadic papillary carcinomas
    Marina 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...
  19. ncbi request reprint Integration of KRAS testing in the diagnosis of pancreatic cystic lesions: a clinical experience of 618 pancreatic cysts
    Marina N Nikiforova
    Department of Pathology, The University of Pittsburgh Medical Center, Pittsburgh, PA, USA
    Mod Pathol 26:1478-87. 2013
    ..Future molecular studies and the combination of other fluid markers are required to improve the detection and classification of pancreatic mucinous neoplasms by endoscopic ultrasound fine-needle aspiration. ..
  20. doi request reprint Molecular and histopathologic characteristics of multifocal papillary thyroid carcinoma
    Mona Bansal
    Departments of Pathology and Laboratory Medicine Otolaryngology, Head Neck Surgery Division of Endocrine Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA
    Am J Surg Pathol 37:1586-91. 2013
    ..Histopathologically, MSPTs are typically located in different lobes, have distinct growth patterns, and do not show microscopic peritumoral dissemination. ..
  21. doi request reprint Clinicopathologic features of synchronous colorectal carcinoma: A distinct subset arising from multiple sessile serrated adenomas and associated with high levels of microsatellite instability and favorable prognosis
    Huankai Hu
    Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pa Department of Radiation Oncology, Stanford University, Stanford, CA
    Am J Surg Pathol 37:1660-70. 2013
    ..We demonstrate that SSA-associated synchronous colorectal carcinomas have a striking predilection for elderly women, are associated with a favorable prognosis, and are MSI-H and BRAF V600E positive...
  22. doi request reprint BRAF mutation detection in indeterminate thyroid cytology specimens: underlying cytologic, molecular, and pathologic characteristics of papillary thyroid carcinoma
    N Paul Ohori
    Department of Pathology, University of Pittsburgh Medical Center Presbyterian, Pittsburgh, Pennsylvania 15213, USA
    Cancer Cytopathol 121:197-205. 2013
    ..However, indeterminate thyroid cytology cases are inevitable and understanding the significance of the BRAF mutation within the context of the Bethesda System for Reporting Thyroid Cytopathology would be valuable...
  23. doi request reprint Both BRAF V600E mutation and older age (≥ 65 years) are associated with recurrent papillary thyroid cancer
    Gina 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...
  24. doi request reprint Molecular diagnostics and predictors in thyroid cancer
    Marina N Nikiforova
    Department of Pathology and Laboratory Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Thyroid 19:1351-61. 2009
    ....
  25. doi request reprint RAS mutations in thyroid FNA specimens are highly predictive of predominantly low-risk follicular-pattern cancers
    Nikhil Gupta
    Division of Endocrinology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA
    J Clin Endocrinol Metab 98:E914-22. 2013
    ..RAS mutations are common in thyroid tumors and confer a high risk of cancer when detected in fine-needle aspiration (FNA) specimens. Specific characteristics of RAS-positive thyroid cancers are not well described...
  26. pmc Cost impact of molecular testing for indeterminate thyroid nodule fine-needle aspiration biopsies
    Linwah 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...
  27. doi request reprint Tumor-to-tumor metastases to follicular variant of papillary thyroid carcinoma: histologic, immunohistochemical, and molecular studies of two unusual cases
    Jing 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...
  28. pmc Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples
    Yuri 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...
  29. pmc MicroRNA signature distinguishes the degree of aggressiveness of papillary thyroid carcinoma
    Linwah 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...
  30. ncbi request reprint BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas
    Marina 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...
  31. doi request reprint Lynch syndrome-associated colorectal carcinoma: frequent involvement of the left colon and rectum and late-onset presentation supports a universal screening approach
    Douglas J Hartman
    Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213
    Hum Pathol 44:2518-28. 2013
    ..A significant proportion (32%) of LS-associated colorectal carcinoma is identified in patients >60 years. Finally, our results demonstrate similar morphologic features between LS-associated and sporadic MSI-H colorectal carcinomas. ..
  32. pmc Identification of the transforming STRN-ALK fusion as a potential therapeutic target in the aggressive forms of thyroid cancer
    Lindsey M Kelly
    Department of Pathology and Laboratory Medicine, Department of Pharmacology and Chemical Biology, Department of Otolaryngology, Department of Surgery, Division of Endocrine Surgery, and Department of Medicine, Division of Endocrinology and Metabolism, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213
    Proc Natl Acad Sci U S A 111:4233-8. 2014
    ..Our data demonstrate that STRN-ALK fusion occurs in a subset of patients with highly aggressive types of thyroid cancer and provide initial evidence suggesting that it may represent a therapeutic target for these patients. ..
  33. doi request reprint Nodule size is an independent predictor of malignancy in mutation-negative nodules with follicular lesion of undetermined significance cytology
    Rohtesh S Mehta
    Department of Surgery, University of Pittsburgh, Pittsburgh, PA
    Surgery 154:730-6; discussion 736-8. 2013
    ..However, negative testing does not exclude malignancy. The study objective was to identify clinical and imaging features that predict cancer in mutation-negative AUS/FLUS thyroid nodules...
  34. pmc Detection of IDH1 and IDH2 mutations by fluorescence melting curve analysis as a diagnostic tool for brain biopsies
    Craig Horbinski
    Department of Pathology, University of Kentucky, Lexington, Kentucky, USA
    J Mol Diagn 12:487-92. 2010
    ....
  35. pmc Paradoxical relationship between the degree of EGFR amplification and outcome in glioblastomas
    Jonathan 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...
  36. pmc Interplay among BRAF, p16, p53, and MIB1 in pediatric low-grade gliomas
    Craig Horbinski
    Department of Pathology, University of Kentucky, MS 155, 800 Rose Street, Lexington, KY 40536, USA
    Neuro Oncol 14:777-89. 2012
    ....
  37. pmc 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 oligodendrogliomas
    Craig 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...
  38. doi request reprint Micropapillary lung adenocarcinoma: EGFR, K-ras, and BRAF mutational profile
    Rosane 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...
  39. pmc MicroRNA expression array identifies novel diagnostic markers for conventional and oncocytic follicular thyroid carcinomas
    Matthias 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...
  40. pmc Mismatch repair deficiency is an uncommon mechanism of alkylator resistance in pediatric malignant gliomas: a report from the Children's Oncology Group
    Ian 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...
  41. pmc The prognostic value of Ki-67, p53, epidermal growth factor receptor, 1p36, 9p21, 10q23, and 17p13 in skull base chordomas
    Craig 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...
  42. doi request reprint miRNA expression profiling of lung adenocarcinomas: correlation with mutational status
    Sanja 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...
  43. doi request reprint A novel COLD-PCR/FMCA assay enhances the detection of low-abundance IDH1 mutations in gliomas
    Brendan 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...
  44. doi request reprint Cytomorphological and molecular genetic findings in pediatric thyroid fine-needle aspiration
    Sara 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)...
  45. pmc MicroRNA dysregulation in human thyroid cells following exposure to ionizing radiation
    Marina 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...
  46. doi request reprint Prospective testing of mucoepidermoid carcinoma for the MAML2 translocation: clinical implications
    Simion 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...
  47. ncbi request reprint High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma
    Edna 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...
  48. doi request reprint Mammalian mastermind like 2 11q21 gene rearrangement in bronchopulmonary mucoepidermoid carcinoma
    Rosane de Oliveira Duarte Achcar
    Department of Pathology, University of Pittsburgh Medical Center, Presbyterian University Hospital, PA 15213, USA
    Hum Pathol 40:854-60. 2009
    ....
  49. pmc ETV6-NTRK3 is a common chromosomal rearrangement in radiation-associated thyroid cancer
    Rebecca J Leeman-Neill
    Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania
    Cancer 120:799-807. 2014
    ....
  50. pmc Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer
    Marina N Nikiforova
    Division of Molecular and Genomic Pathology, Department of Pathology, University of Pittsburgh, 200 Lothrop Street, Pittsburgh, Pennsylvania 15261
    J Clin Endocrinol Metab 98:E1852-60. 2013
    ..Next-generation sequencing (NGS) allows for high-throughput sequencing analysis of large regions of the human genome. We explored the use of targeted NGS for simultaneous testing for multiple mutations in thyroid cancer...
  51. doi request reprint New strategies in diagnosing cancer in thyroid nodules: impact of molecular markers
    Yuri E Nikiforov
    Department of Pathology and Laboratory Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA
    Clin Cancer Res 19:2283-8. 2013
    ....
  52. pmc LOH in the HLA class I region at 6p21 is associated with shorter survival in newly diagnosed adult glioblastoma
    Jacky T Yeung
    Department of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
    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...
  53. doi request reprint Signet ring cell colorectal carcinoma: a distinct subset of mucin-poor microsatellite-stable signet ring cell carcinoma associated with dismal prognosis
    Douglas J Hartman
    Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA
    Am J Surg Pathol 37:969-77. 2013
    ..Further, our results confirm that MSI does not affect survival in colorectal signet ring cell carcinomas...
  54. ncbi request reprint Detection of SYT-SSX rearrangements in synovial sarcomas by real-time one-step RT-PCR
    Marina 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...
  55. doi request reprint Loss of heterozygosity predicts poor survival after resection of pancreatic adenocarcinoma
    Jan 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...
  56. ncbi request reprint Diagnostic use of IDH1/2 mutation analysis in routine clinical testing of formalin-fixed, paraffin-embedded glioma tissues
    Craig 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...
  57. pmc Akt activation is a common event in pediatric malignant gliomas and a potential adverse prognostic marker: a report from the Children's Oncology Group
    Ian 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...
  58. ncbi request reprint PAX8-PPARgamma rearrangement in thyroid tumors: RT-PCR and immunohistochemical analyses
    Marina 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...
  59. ncbi request reprint The role of MGMT testing in clinical practice: a report of the association for molecular pathology
    Milena Cankovic
    Department of Pathology, Henry Ford Hospital, Detroit, Michigan, USA
    J Mol Diagn 15:539-55. 2013
    ..Various molecular testing platforms for evaluation of MGMT methylation status are also discussed. ..
  60. pmc Homologous chromosomes make contact at the sites of double-strand breaks in genes in somatic G0/G1-phase human cells
    Manoj 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...
  61. doi request reprint Grade II oligodendroglioma localized to the corpus callosum
    Edward 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...
  62. doi request reprint Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodules
    Yuri 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...
  63. ncbi request reprint Clinical laboratory reports in molecular pathology
    Margaret 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...
  64. pmc Gene position within chromosome territories correlates with their involvement in distinct rearrangement types in thyroid cancer cells
    Manoj S Gandhi
    Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15261, USA
    Genes Chromosomes Cancer 48:222-8. 2009
    ....
  65. doi request reprint SeqReporter: automating next-generation sequencing result interpretation and reporting workflow in a clinical laboratory
    Somak Roy
    Division of Molecular and Genomic Pathology, Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania Electronic address
    J Mol Diagn 16:11-22. 2014
    ..We propose it as a model that may envisage the development of a comprehensive clinical informatics solution...
  66. doi request reprint Molecular genetics and diagnosis of thyroid cancer
    Yuri 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
    ....
  67. ncbi request reprint Prevalence of RET/PTC rearrangements in Hashimoto's thyroiditis and papillary thyroid carcinomas
    Marina 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...
  68. ncbi request reprint Loss of heterozygosity of selected tumor suppressor genes in parathyroid carcinoma
    Linwah 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...
  69. ncbi request reprint Challenging cases encountered in colorectal cancer screening for Lynch syndrome reveal novel findings: nucleolar MSH6 staining and impact of prior chemoradiation therapy
    Oana 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...
  70. ncbi request reprint Regulation of p27Kip1 protein levels contributes to mitogenic effects of the RET/PTC kinase in thyroid carcinoma cells
    Donata 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...