Mary Ann Perle, Ph.D.
Assistant Professor of Pathology
Clinical Director, Cytogenetics Laboratory
Laboratory Medicine / Tumor genetics, first trimester fetal loss, molecular cytogenetics (FISH)
perlem01@nyumc.org, (212) 263 6454
Fax: (212) 263 7930
462 First Avenue, NBV 4W43, New York, NY 10016
Research and Clinical Interests
Dr. Perle’s primary interest is in molecular cytogenetics (FISH) and the application to clinical diagnosis. She has worked extensively in tumor genetics and analysis of chromosomal rearrangements by both classical and molecular cytogenetics. Research projects utilizing FISH in paraffin-embedded tissues specimens have involved training several residents who went on to pursue careers in molecular pathology. An additional area of interest is in chromosomal anomalies in first trimester fetal loss.
Selected Publications
Kang SH, Perle MA, Nonaka D, Zhu H, Chan W, Yang GCH. Primary Ewing sarcoma/PNET of the kidney: Fine-needle aspiration, histology, and dual color break apart FISH Assay. Diagn Cytopathol. 2007 Jun;35(6):353-7. Cited in Pubmed; PMID 17497665.
Wei JJ, Zhang XM, Chiriboga L, Yee H, Perle MA, Mittal K. Spatial differences in biologic activity of large uterine leiomyomata. Fertil Steril. 2006 Jan;85(1):179–87. Cited in Pubmed; PMID 16412751.
Koklanaris N, Roman AS, Perle MA, Monteagudo A. Isolated echogenic intracardiac foci in patients with low-risk triple screen results: assessing the risk of Trisomy 21. J Perinat Med. 2005;33(6):539-42. Cited in Pubmed; PMID 16318619.
Xu R, Feiner H, Li P, Yee H, Inghirami G, Delgado Y, Perle MA. Differential amplification and overexpression of Her-2/neu, p53, M1B1, and estrogen receptor/progesterone receptor among medullary carcinoma, atypical medullary carcinoma and high grade invasive ductal carcinoma of the breast. Arch Pathol Lab Med. 2003 Nov;127(11):1458-64. Cited in Pubmed; PMID 14567723.
Li P, Perle MA, Scholes JV, Yang GC. Wilms' tumor in adults: aspiration cytology and cytogenetics. Diagn Cytopathol. 2002 Feb;26(2):99-103. Cited in Pubmed; PMID 11813327.
Xu R, Perle MA, Inghirami G, Chan W, Delgado Y, Feiner H. Amplification of Her-2/neu gene in Her-2/neu-overexpressing and non-expressing breast carcinomas and their synchronous benign, pre-malignant, and metastatic lesions detected by FISH in archival material. Mod Pathol. 2002 Feb;15(2):116-24. Cited in Pubmed; PMID 11850540.
Gerecitano J, Perle MA, Vilcek J. Transcriptional basis for the differences in inducible nitric oxide synthetase (iNOS) expression between nonmetastatic and metastatic murine melanoma cell lines. J Interferon Cytokine Res. 1999 Apr;19(4):393-405. Cited in Pubmed; PMID 10334391.
Schmidt-Sarosi C, Schwartz LB, Lublin J, Kaplan-Grazi D, Sarosi P, Perle MA. Chromosomal analysis of early fetal losses in relation to transvaginal ultrasonographic detection of fetal heart motion after infertility. Fertil Steril. 1998 Feb;69(2):274-7. Cited in Pubmed; PMID 9496341.
Illei P, Feiner H, Yin Z, Chan W, Symmans F, Perle MA. Numerical abnormalities of chromosomes 7, 18 and X in precancerous breast disease defined by fluorescent in situ hybridization. The Breast Journal. 1998;4(4):252-7.
Rosenbluth J, Perle MA, Shirasaki N, Hasegawa, Wolf ME. X-chromosome monosomy in the myelin-deficient rat mutant. Anat Rec. 1990 Mar;226(3):396-402. Cited in Pubmed; PMID 2327608.
Weinstein ME, Grossman A, Perle MA, Wilmot PL, Verma RS, Silver RT, Arlin Z, Allen SL, Amorosi E, Waintraub SE, Shapiro LR, Benn PA. The karyotype of Philadelphia (Ph) chromosome negative, breakpoint cluster region (bcr) rearrangement positive chronic myeloid leukemia (CML). Cancer Genet Cytogenet. 1988 Oct 15;35(2):223-9. Cited in Pubmed; PMID 3180023.
D'Andrea AD, Tantravahi U, Lalande M, Perle MA, Latt SA. High resolution analysis of timing of replication of specific DNA sequences during S phase of mammalian cells. Nucleic Acids Res. 1983 Jul 25;11(14):4753-74. Cited in Pubmed; PMID 6192392.
Perle MA, Leonard CM, Newman SA. Developmentally-regulated nonhistone proteins: evidence for DNA-binding role and localization near DNAase1-sensitive domains of precartilage cell chromatin. Biochemistry. 1982 May 11;21(10):2379-86. Cited in Pubmed; PMID 6284199.
Perle MA, Newman SA. Talpid2 mutant of the chicken with perturbed cartilage development has an altered precartilage-specific chromatin protein. Proc Natl Acad Sci U S A. 1980 Aug;77(8):4828-30. Cited in Pubmed; PMID 6933534.
Selected Books and Reviews
Benn PA, Perle MA. Chromosome staining and banding techniques. In: Rooney DE, Czepulkowski BH, editors. Human Genetics: A Practical Approach. 2nd edition. Oxford: IRL Press; 1992.
Newman SA, Frisch HL, Perle MA, Tomasek JT. Limb development: Aspects of differentiation, pattern formation, and morphogenesis. In: Connelly TG, Brinkley LL, et al, editors. Morphogenesis and Pattern Formation. New York: Raven Press; 1991.
Gray JW, Pinkel D, Trask B, van den Engh G, Segraves R, Collins C, Andreeff M, Haimi J, Perle MA. Application of flow karyotyping and fluorescence in situ hybridization to detection of chromosome aberrations. In: Karr JP, Coffey DS, et al, editors. Prognostic Cytometry and Cytopathology of Prostate Cancer. New York: Elsevier Science Publishing; 1989.
Wolman SR, Camuto PM, Perle MA. Cytogenetic diversity in primary human tumors [review]. J Cell Biochem. 1988 Feb;36(2):147-56. Cited in Pubmed; PMID 3281959.
Benn PA, Perle MA. Chromosome staining and banding techniques. In: Rooney DE, Czepulkowski BH, editors. Human Genetics:A Practical Approach. Oxford: IRL Press Ltd; 1986.
Organizational Associations
Board Member, Board of Directors, NYS Genetics Task Force; American Society for Human Genetics; Children’s Oncology Group (COG); Advisor, Biomedical Advisory Board, Sperm/Oocyte Donation Banks of the Program for In Vitro Fertilization, Reproductive Surgery and Infertility at NYU Medical Center
Hospital Affiliations
Bellevue Hospital
Clinical Pathology Hospital