Mark J. Pettenati

Professor, Pediatrics/Medical Genetics;
Surgical Sciences/Ophthalmology; Pathology
Director, Cytogenetics and Molecular Cytogenetics Laboratory
Director, Molecular Genetics Laboratory
Director, MSAFP Laboratory and Program
Director, Pediatric Genetics Laboratory
 

B.S., 1978 St. Bonaventure University 
Ph.D., 1983 West Virginia University 
Postdoctorate, 1985 Indiana University School of Medicine 
Postdoctorate: University of Chicago Medical Center, 1986 
Board Certification in Clinical Cytogenetics, 1987 

The Cytogenetic Laboratory of WFUSM is one of the largest cytogenetic laboratories in the southeast with expertise in all areas of clinical cytogenetics. Major areas of clinical research include cytogenetic analysis of leukemia subgroups in relation to clinical presentation and balanced and unbalanced chromosome rearrangements and their clinical relevance to gene localization.

We currently have a Molecular Cytogenetic laboratory with cutting edge technology in the field of image analysis. Research in this laboratory uses Fluorescent in situ Hybridization (FISH) and M-FISH to perform clinical evaluations, determine chromosome aberrations and rearrangements and perform gene mapping and order. In addition the laboratory has chromosome microdissection ability. Ongoing projects in this laboratory include the application and evaluation of FISH for: 1) Prenatal, postnatal and leukemia diagnosis; 2) gene mapping of Autism, eye development (cornea and Blepharophimosis) 3) microchip array analysis of the dic(9;20) in pediatric ALL 4) detection of the development myelodysplastic syndromes in patients with bone marrow transplantation using
FISH 5) determination of syteny groups of primate chromosomes; 6) development and application of molecular cytogenetics for laboratory testing in forensic science. 7) mapping Prostate Cancer Susceptibility Genes using FISH.

Professional Interests

High-resolution chromosome analysis of clinical genetic syndromes as related to gene mapping.

Application of molecular cytogenetics for diagnosis in clinical genetic cases, leukemia, solid tumors and in gene mapping, ordering and rearrangement.

Application of molecular cytogenetics for determining synteny of primates.

Application and development of image analysis to molecular cytogenetics.

Development and application of molecular cytogenetics for laboratory testing in Forensic Science as it applies to sexual assault and child molestation.

Development of medical genetic database systems – MedGIS

Recent Publications (selected):

1.      Renno SI, Moreland WS, Pettenati MJ, Beaty MW, Keung Y-K. Primary malignant lymphoma of uterine corpus: Case report and review of literature. Ann Hematol 2002;81:44-47.

2.      Pettenati MJ, Von Kap-Herr C,  Jackle B, Bobby P, Mowrey P, Schwartz S, Rao PN, Rosnes J. Rapid prenatal interphase analysis of translocation carriers using subtelomeric probes. Prenat Diag 2002:22;193-197.

3.      Pettenati MJ, Jackle B, Bobby P, Stewart W, Mowrey P, May KM, Von Kap-Herr C, Rao PN. Unexpected Positioning of Subtelomeric DNA Probes in Chromosome Anomalies: Potential effects on chromosome pairing and clinical consequences. Am J Med Genet 2002:111;48-53.

4.      Keung Yi-K, Buss D, Powell BL, Pettenati M. Central diabetes insipidus and inv(3)(q21q26) and monosomy 7 in acute myeloid leukemia Cancer Genet Cytogenet 2002:136:78-81.

5.      Zhang Y, Hart PS, Moretti AJ, Bouwsma OJ, Fisher EM, Dudlicek L, Pettenati MJ, Hart TC. Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefèvre syndrome. Human Mutation. 2002:20;75.

6.      Farag SS, Archer KJ, Mrozek K, Vardiman JW, Carroll AJ, Pettenati MJ, Moore JO, Kolitz JE, Mayer RJ, Stone RM, Larson RA, Bloomfield CD.  Isolated trisomy of chromosomes 8, 11, 13 and 21 is an adverse prognostic factor in adults with de novo acute myeloid leukemia: Results from Cancer and Leukemia Group B 8461. Int J Oncol 2002;21:1041-51.

7.      Byrd JC, Mrózek K, Dodge RK, Carroll AJ, Edwards C, Arthur DC, Pettenati MJ, Patil SR, Rao KW, Watson MS, Moore JO, Stone RM, Mayer RJ, Davey FR, Schiffer CA, Larson RA, Bloomfield CD. Pre-treatment primary but not secondary cytogenetic abnormalities are predictive of induction success and overall survival in adult patients with de novo acute myeloid leukemia: Results from CALGB 8461. Blood 2002:100;4325-4330.

8.      Yi-Kong K, Beaty M, Stewart W, Jackle B, Pettenati MJ. Chronic myeloid leukemia with eosinophilia, t(9;12)(q34;p13) and etv6-abl gene rearrangement - case report and review of literature. Can Genet Cytogenet 2002:138;139-142.

9.      Yi-Kong K, Chauvent A, Buss D, Pettenati MJ. Hematological malignancies and Klinefelter syndrome: A chance association? Can Genet Cytogenet 2002;139:9-13.

10.  Zamkoff KW, Bergman S, Beaty M, Buss D, Pettenati MJ, Hurd D. Fatal EBV Related post transplant lymphoproliferative disorder (lpd) after matched related donor non-myeloablative peripheral blood progenitor cell transplant (nmasct) conditioned with fludarabine, cyclophosphamide and rabbit antithymocyte globulin. BMT 2003:31;219-222.

11.  Hagenstad CT, Kilpatrick SE, Pettenati MJ, Savage PD. Inflammatory myofibroblastic tumor with bone marrow involvement a case report and review of the literature. Arch Path Lab Med. 2003:127;865–867.

12.  Keung Yi-K, Knovich MA, Powell BL, Buss DH, Pettenati M. Constitutional pericentric inversion of chromosome 9 and acute leukemia. Can Genet Cytogenet 2003;145:82-85.

13.  Zheng SL., Mychaleckyj JC, Hawkins GA, Isaacs SD, Wiley KE, Turner A, Chang B-l, von Kap-Herr C, Carpten JD, Pettenati MJ, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB, Jianfeng X. Evaluation of DLC1 as a prostate cancer susceptibility gene: mutation screen and association. Mutat Res. 2003;528:45-53.

14.  Shashi V, White JR, Pettenati MJ, Root SK, Bell WL. Ring chromosome 17: phenotype variation by deletion size. Clin Genet 2003:64;361–365.

15.  Jhala DN, Eltoum I, Carroll AJ, Lopez-Ben R, Lopez-Terrada D, Rao PH, Pettenati MJ, Siegal GP. Osteosarcoma in a patient with McCune-Albright syndrome and Mazabraud’s syndrome: A case report emphasizing the cytological and cytogenetic findings. Hum Path 2003:34;1354-1357.

16.  Inman JL, Kute T, White W, Pettenati MJ, Levine EA. Absence of HER2 overexpression in metastatic malignant melanoma. J Surgical Oncology 2003:84;82-84.

17.  Von Kap-herr C, Cockman T, Rudel L, Saner M, Pettenati MJ. Assignment of Acyl-CoA:cholesterol acyltransferase 1 and 2 (SOAT1, SOAT2) and Diacylglycerol O-acyltransferase 1 (DGAT1) to M. fascicularis chromosome band 1p32, 12q13, 8qter; C. aethiops sabaeus 13q22, 3q12, 1qter; S. sciureus 19q22, 15q21, 16qter by in situ hybridization.  Cytogenet Genome Res 2003;103:203J .

18.  Dodge W, Cruz J, Zamkoff K, Hurd D, Pettenati MJ. Use of Fluorescence In Situ Hybridization to detect minimal residual disease in hematopoietic stem cell assays from peripheral blood stem cells of 2 patients with trisomy 8 and acute myeloid leukemia. Stem Cells Devel 2004;13;23-26.

19.  Byrd JC, Ruppert AS, Mrozek K, Carroll AJ, Edwards CG, Arthur DC, Pettenati MJ, Stamberg J, Koduru PR, Moore JO, Mayer RJ, Davey FR, Larson RA, Bloomfield CD. Repetitive cycles of high-dose cytarabine benefit patients with acute myeloid leukemia and inv(16)(p13q22) or t(16;16)(p13;q22): results from CALGB 8461. J Clin Oncol. 2004;22:1087-1094.

20.  Keung Yi-K, Beaty M, Powell BL, Molnar I, Buss D, Pettenati M. Philadelphia chromosome positive myelodysplastic syndrome and acute myeloid leukemia – retrospective study and review of literature. Leuk Res. 2004:28;579-586.

21.  Bloomfield CD, Ruppert AS, Mrozek K, Kolitz JE, Moore JO, Mayer RJ, Edwards CG, Sterling LJ, Vardiman JW, Carroll AJ, Pettenati MJ, Stamberg J, Byrd JC, Marcucci G, Larson RA.  Core binding factor acute myeloid leukemia. Cancer and Leukemia Group B (CALGB) Study 8461. Ann Hematol. 2004;83:S84-5.

22.  Farag SS, Ruppert AS, Mrozek K, Carroll AJ, Pettenati MJ, Le Beau MM, Peterson BL, Powell BL, Ozer H, Silver RT, Larson RA, Bloomfield CD. Prognostic significance of additional cytogenetic abnormalities in newly diagnosed patients with Philadelphia chromosome-positive chronic myelogenous leukemia treated with interferon-alpha: A Cancer and Leukemia Group B study. Int J Oncol. 2004; 25:143-51.

23.  Marcucci G, Mrozek K, Ruppert AS, Archer KJ, Pettenati MJ, Heerema NA, Carroll AJ, Koduru PR, Kolitz JE, Sterling LJ, Edwards CG, Anastasi J, Larson RA, Bloomfield CD. Abnormal cytogenetics at date of morphologic complete remission predicts short overall and disease-free survival, and higher relapse rate in adult acute myeloid leukemia: results from Cancer and Leukemia Group B study 8461. J Clin Oncol. 2004;15:2410-8.

24.  Blum W,  Mrózek K, Ruppert AS, Carroll AJ, Rao KW, Pettenati MJ, Anastasi J, Larson RA, Bloomfield CD. Early allogeneic transplantation should be considered for adults with de novo acute myeloid leukemia presenting with t(6;11)(q27;q23): results from CALGB 8461 and review of the literature. Cancer 2004;101:1420-7.

25.  Farag SS, Ruppert AS, Mrozek K, Mayer RJ, Stone RM, Carroll AJ, Powell BL, Moore JO, Pettenati MJ, Koduru PR, Stamberg J, Baer MR, Block AW, Vardiman JW, Kolitz JE, Schiffer CA, Larson RA, Bloomfield CD. Outcome of Induction and Postremission Therapy in Younger Adults With Acute Myeloid Leukemia With Normal Karyotype: A Cancer and Leukemia Group B Study. J Clin Oncol. 2005:23;1-12.

26.   Shen Y-J, DeLong CJ, Tercé F, Kute T,  Willingham MC,  Pettenati MJ, Cui Z. Polyploid Formation via Chromosome Duplication Induced by CTP: Phosphocholine Cytidylyltransferase Deficiency and Bcl-2 Overexpression: Identification of Two Novel Endogenous Factors. J Histochem & Cytochem 2005;53:725–733.