title: The Application of Molecular Diagnostics to Stained Cytology Smears.
abstract: Detection of mutational alterations is important for guiding treatment decisions of lung non-small-cell carcinomas and thyroid nodules with atypical cytologic findings. Inoperable lung tumors requiring further testing for staging and thyroid lesions often are diagnosed using only cytology material. Molecular diagnostic tests of these samples typically are performed on cell blocks; however, insufficient cellularity of cell blocks is a limitation for test performance. In addition, some of the fixatives used while preparing cell blocks often introduces artifacts for mutation detection. Here, we applied qClamp xenonucleic technology and quantitative RT-PCR to cells microdissected directly from stained cytology smears to detect common alterations including mutations and translocations in non-small-cell carcinomas and thyroid lesions. By using this approach, we achieved a 1% molecular alteration detection rate from as few as 50 cells. Ultrasensitive methods of molecular alteration detection similar to the one described here will be increasingly important for the evaluation of molecular alterations in clinical scenarios when only tissue samples that are small are available.
authors.affiliation: Department of Pathology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York. Electronic address: moktay@montefiore.org.
authors.forename: Maja H
authors.initials: MH
authors.lastname: Oktay
authors.affiliation: Department of Pathology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.
authors.forename: Esther
authors.initials: E
authors.lastname: Adler
authors.affiliation: Department of Pathology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.
authors.forename: Laleh
authors.initials: L
authors.lastname: Hakima
authors.affiliation: Department of Biology, Yeshiva University, New York, New York.
authors.forename: Eli
authors.initials: E
authors.lastname: Grunblatt
authors.affiliation: Department of Biology, Yeshiva University, New York, New York.
authors.forename: Evan
authors.initials: E
authors.lastname: Pieri
authors.affiliation: Department of Pathology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.
authors.forename: Andrew
authors.initials: A
authors.lastname: Seymour
authors.affiliation: Department of Pathology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.
authors.forename: Samer
authors.initials: S
authors.lastname: Khader
authors.affiliation: Department of Pathology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.
authors.forename: Antonio
authors.initials: A
authors.lastname: Cajigas
authors.affiliation: Department of Pathology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.
authors.forename: Mark
authors.initials: M
authors.lastname: Suhrland
authors.affiliation: Department of Biology, Yeshiva University, New York, New York. Electronic address: goswami@yu.edu.
authors.forename: Sumanta
authors.initials: S
authors.lastname: Goswami
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor; D003581:Cytodiagnosis / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf; D060888:Real-Time Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D014408:Biomarkers, Tumor; C522504:EML4-ALK fusion protein, human; D015514:Oncogene Proteins, Fusion; D048493:Proto-Oncogene Proteins B-raf