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Professor Maureen J O'Sullivan
Clinical Professor, Histopathology

Publications and Further Research Outputs

Peer-Reviewed Publications

Kelly,Lorna L., Bryan,Kenneth K., Kim,Suyoung S., Janeway,Katherine A. K.A., Killian,Jonathan Keith J.K., Schildhaus,Hans Ulrich H.U., Miettinen,Markku M A M.M.A., Helman,Lee J R F L.J.R.F., Meltzer,Paul S. P.S., Van De Rijn,Matt M., DÈ©biec-Rychter,Maria M., O'Sullivan,Maureen J. M.J., Post-Transcriptional Dysregulation by miRNAs Is Implicated in the Pathogenesis of Gastrointestinal Stromal Tumor [GIST], PLoS ONE, 8, (5), 2013 Journal Article, 2013 TARA - Full Text DOI

Oudijk L, Gaal J, Korpershoek E, van Nederveen FH, Kelly L, Schiavon G, Verweij J, Mathijssen RH, den Bakker MA, Oldenburg RA, van Loon RL, O'Sullivan MJ, de Krijger RR, Dinjens WN, SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors., Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 26, (3), 2013, p456-63 Journal Article, 2013

Watson JA, Bryan K, Williams R, Popov S, Vujanic G, Coulomb A, Boccon-Gibod L, Graf N, Pritchard-Jones K, O'Sullivan M, miRNA profiles as a predictor of chemoresponsiveness in Wilms' tumor blastema., PloS one, 8, (1), 2013, pe53417 Journal Article, 2013 TARA - Full Text DOI

Lynn M, Wang Y, Slater J, Shah N, Conroy J, Ennis S, Morris T, Betts DR, Fletcher JA, O'Sullivan MJ, High-resolution Genome-wide Copy-number Analyses Identify Localized Copy-number Alterations in Ewing Sarcoma., Diagnostic molecular pathology : the American journal of surgical pathology, part B, 22, (2), 2013, p76-84 Journal Article, 2013

Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S, Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation., American journal of human genetics, 92, (1), 2013, p131-6 Journal Article, 2013 DOI TARA - Full Text

Conlon N, Teoh CW, Pears J, O'Sullivan M, Bilateral botryoid nephroblastoma: a rare cause of renal failure., BMJ case reports, 2012, 2012 Journal Article, 2012

Howley S, Stack D, Morris T, McDermott M, Capra M, Betts D, O'Sullivan MJ, Ectomesenchymoma with t(1;12)(p32;p13) evolving from embryonal rhabdomyosarcoma shows no rearrangement of ETV6., Human pathology, 43, (2), 2012, p299-302 Journal Article, 2012 DOI

M Lynn, Y Wang, J Slater, N Shah, J Conroy, S Ennis, T Morris, D R. Betts, JA. Fletcher, M J O' Sullivan. , High-Resolution Genome-Wide Copy Number Analyses Identifies Localized Copy-Number Alterations in Ewing Sarcoma., Diagnostic Molecular Pathology, 2012 Journal Article, 2012

O'Meara E, Stack D, Lee CH, Garvin AJ, Morris T, Argani P, Han JS, Karlsson J, Gisselson D, Leuschner I, Gessler M, Graf N, Fletcher JA, O'Sullivan MJ, Characterization of the chromosomal translocation t(10;17)(q22;p13) in clear cell sarcoma of kidney., The Journal of pathology, 227, (1), 2012, p72-80 Journal Article, 2012

Teo M, Crotty P, O'Sullivan M, French CA, Walshe JM, NUT midline carcinoma in a young woman., Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 29, (12), 2011, pe336-9 Journal Article, 2011

McDowell DT, Nguyen T, O'Sullivan MJ, Corbally M, When is a scrotal swelling not a scrotal swelling?, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie, 21, (5), 2011, p342-3 Journal Article, 2011

Hayes BD, O'Sullivan MJ, Intranodal hybrid benign nerve sheath tumor., Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 14, (4), 2011, p313-7 Journal Article, 2011

Janeway, KA; Kim, SY; Lodish, M; Nose, V; Rustin, P; Gaal, J; Dahia, P; Liegl, B; Ball, ER; Raygada, M; Lai, A; Kelly, L Hornick, J; O'Sullivan, M; de Krijger RR, Dinjens WN, Demetri, GD; Antonescu, C; Fletcher, JA; Helman, L and Stratakis, CA., Defects in succinate dehydrogenase in gastrointestinal stromal tumors without KIT and PDFGRA mutations, Proc Natl Acad Sci U S A, 108, (1), 2011, p314 - 318 Journal Article, 2011

Chan JC, Sullivan PJ, O'Sullivan MJ, Eadie PA, Full thickness burn caused by exposure to giant hogweed: delayed presentation, histological features and surgical management., Journal of plastic, reconstructive & aesthetic surgery : JPRAS, 64, (1), 2011, p128-30 Journal Article, 2011

Rizkalla H, Wildgrove H, Quinn F, Capra M, O'Sullivan MJ, Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review., Fetal and pediatric pathology, 30, (3), 2011, p156-60 Journal Article, 2011 DOI

Gaal J, Stratakis CA, Carney JA, Ball ER, Korpershoek E, Lodish MB, Levy I, Xekouki P, van Nederveen FH, den Bakker MA, O'Sullivan M, Dinjens WN, de Krijger RR, SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors., Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 24, (1), 2011, p147-51 Journal Article, 2011

Lockwood WW, Stack D, Morris T, Grehan D, O'Keane C, Stewart GL, Cumiskey J, Lam WL, Squire JA, Thomas DM, O'Sullivan MJ, Cyclin E1 is amplified and overexpressed in osteosarcoma., The Journal of molecular diagnostics : JMD, 13, (3), 2011, p289-96 Journal Article, 2011

Kevin K; Storey L; O' Sullivan M; Butler K; McDermott M; Corbally M; McMahon C; Smith O P; O' Marcaigh A., Esophageal strictures during treatment for acute lymphoblastic leukemia, Journal of Pediatric Hematology / Oncology., 32, (2), 2010, p124 - 127 Journal Article, 2010

Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T, The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers., PLoS genetics, 6, (6), 2010, pe1000992 Journal Article, 2010

Foley NH, Bray IM, Tivnan A, Bryan K, Murphy DM, Buckley PG, Ryan J, O'Meara A, O'Sullivan M, Stallings RL, MicroRNA-184 inhibits neuroblastoma cell survival through targeting the serine/threonine kinase AKT2., Molecular cancer, 9, 2010, p83 Journal Article, 2010

Sargent J, O'Marcaigh A, Smith O, Butler K, Gavin P, O'Sullivan M, Candida albicans-associated necrotizing vasculitis producing life-threatening gastrointestinal hemorrhage., Human pathology, 41, (4), 2010, p602-4 Journal Article, 2010

Mulligan L, Nosherwan A, Hayes R, Pears J, McDermott MB, O'Sullivan M, Wilms Tumor arising in extra-coelomic paravertebral soft tissues., Pediatr Dev Pathol, 2010 Journal Article, 2010

Curry S, Ibrahim F, Grehan D, McDermott MB, Capra M, Betts D, O'Sullivan M., Rhabdomyosarcoma-associated renal cell carcinoma - A link with constitutional TP53 mutation. , Pediatr Dev Pathol. , 14, (3), 2010, p248 - 251 Journal Article, 2010 DOI

"Cytogenetics and Molecular Genetics" [chapter 5] in, editor(s)Orkin, Fisher, Look, Lux, Ginsburg and Nathan (Eds). "Oncology of Infancy and Childhood" 1st Edition 2009. Revisions for 2nd Edition now in progress. , Oncology and Hematology of Infancy and Childhood, China, Saunders, an imprint of Elsevier Inc., 2009, pp99 - 171, [O'Sullivan MJ; Fletcher JA and Felix CA.] Book Chapter, 2009

O'Sullivan MJ, Gastrointestinal stromal tumors., Pediatric surgery international, 25, (10), 2009, p841-50 Journal Article, 2009

Bray I, Bryan K, Prenter S, Buckley PG, Foley NH, Murphy DM, Alcock L, Mestdagh P, Vandesompele J, Speleman F, London WB, McGrady PW, Higgins DG, O'Meara A, O'Sullivan M, Stallings RL, Widespread dysregulation of MiRNAs by MYCN amplification and chromosomal imbalances in neuroblastoma: association of miRNA expression with survival., PloS one, 4, (11), 2009, pe7850 Journal Article, 2009

Viswanathan SR, Powers JT, Einhorn W, Hoshida Y, Ng TL, Toffanin S, O'Sullivan M, Lu J, Phillips LA, Lockhart VL, Shah SP, Tanwar PS, Mermel CH, Beroukhim R, Azam M, Teixeira J, Meyerson M, Hughes TP, Llovet JM, Radich J, Mullighan CG, Golub TR, Sorensen PH, Daley GQ., Lin28 promotes transformation and is associated with advanced human malignancies. , Nat Genet, 1, (7), 2009, p843 - 848 Journal Article, 2009

Shahdadpuri R, O'Meara A, O'Sullivan M, Reardon W., Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome. , Clin Dysmorphol., 17, (3), 2008, p199 - 202 Journal Article, 2008

Weidinger S, O'Sullivan M, Illig T, Baurecht H, Depner M, Rodriguez E, Ruether A, Klopp N, Vogelberg C, Weiland SK, McLean WH, von Mutius E, Irvine AD, Kabesch M. J, Filaggrin mutations, atopic eczema, hay fever, and asthma in children, Allergy Clin Immunol. , 121, (5), 2008, p1203 - 1209 Journal Article, 2008

O'Sullivan, MJ*; Nielsen TO; Hayes M; Pallen C; Sorensen P and Horsman D, Novel translocation t(2;16) producing an in-frame fusion of FUS and FEV in an Ewing family tumour. Ng, T*;, Journal of Molecular Diagnostics, 9, (4), 2007, p459 - 463 Journal Article, 2007

Zhang, L; Anglesio, MS; O'Sullivan, MJ; Zhang, F; Yang, G; Sarao, R; Nghien, M; Cronin, S; Hara, H; Arya, S; Wada, T; Liu, PP; Sorensen, PHB; Penninger, JM. , The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor involved in multiple cancers., Nature Medicine, 13, (9), 2007, p1060 - 1069 Journal Article, 2007

Arestis NJ; Clark, C; Munro, FD; Micallef, C; O'Sullivan, MJ. , Congenital Pouch Colon Associated with Anorectal Agenesis: A Case Report and Review of the Literature, Pediatr. Devel. Pathol, , 8, (6), 2005, p701 - 705 Journal Article, 2005

O'Sullivan, MJ; McCabe, A; Gillett, P; Penman, I; MacKinlay, G A; Pritchard, J. , Multiple Gastric Stromal Tumours in a Child without Syndromic Association and Lacking Common KIT or PDGFRα Mutations. , Pediatr. Devel. Pathol,, 8, (6), 2005, p685 - 689 Journal Article, 2005

M O'Sullivan, V Budhraja, Y Sadovsky, and JD. Pfeifer., Tumor heterogeneity affects the precision of microarray analysis., Diagn. Mol. Pathol, , 14, (2), 2005, p65 - 71 Journal Article, 2005

Murphy A, Stallings RL, Howard J, O'Sullivan M, Hayes R, Breatnach F, McDermott MB., Primary Desmoplastic Small Round Cell Tumour of Bone: Report of a Case with Cytogenetic Confirmation. , Cancer Genet Cytogenet,, 156, (2), 2005, p167 - 71 Journal Article, 2005

Plowman SJ, Williamson DJ, O'Sullivan MJ, Doig J, Ritchie AM, Harrison DJ, Melton DW, Arends MJ, Hooper ML, Patek CE., While K-ras is essential for mouse development, expression of the K-ras 4A splice variant is dispensable. , Mol Cell Biol., 23, (24), 2003, p9245 - 9250 Journal Article, 2003

Miles CG, Slight J, Spraggon L, O'Sullivan M, Patek C, Hastie ND. , Mice lacking the 68-amino-acid, mammal-specific N-terminal extension of WT1 develop normally and are fertile., Mol Cell Biol., 23, (7), 2003, p2608 - 2613 Journal Article, 2003

D.A. Hill; M.J. O'Sullivan; X. Zhu; R.T. Vollmer; P.A. Humphrey; L.P. Dehner; J.D. Pfeifer. Am , Practical Application of Molecular Genetic Testing as an Aid to the Surgical Pathologic Diagnosis of Soft Tissue Neoplasms: A Prospective Study., J Surg Pathol,, 26, (8), 2002, p965 - 977 Journal Article, 2002

M.J. O'Sullivan, P.A. Humphrey, L.P. Dehner, and J.D. Pfeifer. , t(X;18) Reverse Transcriptase-Polymerase Chain Reaction Demonstrating a Variant Transcript., J Mol Diagn. , 4, (3), 2002, p178 - 180 Journal Article, 2002

C. Harrison, A-M. Ketchen , N. J. Redhead, M. J. O'Sullivan and D. W. Melton. , Replication failure, apoptosis, genome instability and increased cancer susceptibility in mice with a point mutation in the DNA ligase I gene, Cancer Res, 62, (14), 2002, p4065 - 4074 Journal Article, 2002

M.J. O'Sullivan; P.E. Swanson; J. Knoll; E.M. Taboada and L.P. Dehner., Undifferentiated Embryonal Sarcoma with unusual Features arising within Mesenchymal Hamartoma of the Liver - Report of a Case and Review of the Literature. , Pediatr Devel Pathol, , 4, (5), 2001, p482 - 489 Journal Article, 2001

O'Sullivan M.J., Perlman E.J., Furman J., Humphrey P.A., Dehner L.P., Pfeifer, J.D., Visceral primitive peripheral neuroectodermal tumors - a clinicopathologic and molecular study. , Hum Pathol,, 32, 2001, p1109 - 1115 Journal Article, 2001

M.J. O'Sullivan, MD, J.S. Rader, MD, D.S. Gerhard, Y. Li, MD, K.M.Trinkaus, D.J. Gersell, MD, P.C. Huettner, MD , Loss of Heterozygosity at 11q23.3 in Vasculo-invasive and Metastatic Squamous Cell Carcinoma of the Cervix., Hum Pathol,, 32, (5), 2001, p475 - 478 Journal Article, 2001

J.D. Pfeifer, D.A. Hill, M.J. O'Sullivan and L.P Dehner., Diagnostic Gold Standard in Soft Tissue Tumors: Morphology or Molecular Genetics? , Histopathol, 37, (6), 2000, p485 - 500 Journal Article, 2000

MJ. O'Sullivan; KE. Sirgi and LP. Dehner., Hyalinizing Spindle Cell Tumor with Giant Rosettes with Extensive Pulmonary Metastases - A Case Report and Review of the Literature. , Int J Surg Pathol,, 10, (3), 2000, p211 - 216 Journal Article, 2000

M.J. O'Sullivan, M. Kyriakos, X. Zhu, M.R. Wick, P.E. Swanson, L.P. Dehner, P.A. Humphrey and J.D. Pfeifer. , Malignant Peripheral Nerve Sheath Tumors with t(X;18). A Pathologic and Molecular Genetic Study, Mod. Pathol.,, 13, 2000, p1336 - 1346 Journal Article, 2000

O'Sullivan, M.J., Kaleem, Z., Bolger, M., Swanson, P. E. and Zutter, M., Composite Prolymphocytoid and Hodgkin Transformation of Chronic Lymphocytic Leukemia., Arch. Pathol. Lab. Med.,, 124, 2000, p907 - 909 Journal Article, 2000

O Suilleabhain, C.B., Ryder, D., Marks, C.J., Keohane, C. and O'Sullivan, M.J. , Solitary Intracranial Myofibroma in a Child. , JNNP, 1999, p253 - 254 Journal Article, 1999

Familial Adenomatous Polyposis from bedside to benchside. , O'Sullivan, M.J., McCarthy, T.V. and Doyle, C.T.: , Am.J.Clin.Pathol.,, 109, (5), 1998, p521 - 526 Journal Article, 1998

O'Sullivan, M.J., Mulcahy, T., Cambell, J., O Suilleabhain, C.B., Kirwan, W.O., Doyle, C.T. and McCarthy, T.V.,, Detection of five novel germline mutations in the APC gene in Irish Familial Adenomatous Polyposis Pedigrees., Human Mutation, , 11, 1998, p251 - 253 Journal Article, 1998

O'Sullivan, M.J., Ritter, J.H., Humphrey, P.A. and Wick, M.R., Lymphoid Lesions of the Gastrointestinal Tract -A Histological, Immunophenotypic and Genotypic Analysis of 49 Cases. , Am.J.Clin.Pathol., 110, (4), 1998, p471 - 477 Journal Article, 1998

Rader, J.S., Gerhard, D.S., O'Sullivan, M.J., Li, Y., Li, L. Liapis, H. and Huettner, P.C. , Cervical Intraepithelial Neoplasia III shows frequent Allelic Loss in 3p and 6p., Genes, Chromosomes and Cancer,, 22, 1998, p57 - 65 Journal Article, 1998

O'Sullivan, M.J., Ball, R.H., McAllister, W., Teitelbaum, S., Swanson, P.E., Dehner, L.P. , Morphologic Observations of a case of Lethal Variant (Type I) Metatropic Dysplasia with atypical features., Pediatr Devel Pathol,, 1, (5), 1998, p405 - 412 Journal Article, 1998

The Influence of some perinatal factors on neonatal blood pressure. , O'Sullivan, M.J., Kearney, P.J. & Crowley, M.J, Acta Paed., 85, 1996, p849 - 853 Journal Article, 1996

O'Sullivan, M.J., Mulcahy, T., O Suilleabhain, C.B., Kirwan W.O., Doyle, C.T. and McCarthy, T.V. , Adenomatous polyposis coli gene mutations in Irish pedigrees with familial adenomatous polyposis. , Biochem. Soc. Transactions,, 23, (2), 1995 Journal Article, 1995

O'Sullivan, M.J., Kearney, P.J. & Crowley, M., Reliability of Blood Pressure Readings in Infancy., Irish Medical Journal,, 86, (5), 1993, p171- Journal Article, 1993


Awards and Honours

University Entrance Scholarship, University College Cork.

First Place in Class, Third Medical Year.

British Paediatric Association Bursary, 1992

NUI Travelling Studentship in Pathology Prize, Dublin, September, 1997

ASCP/CAP American Society of Clinical Pathologists/College of American Pathologists, Resident prize, Fall Meeting, 1997. [Short-listed and I withdrew].

INAPS award for best presentation USCAP (US and Canadian Academy of Pathology) meeting, 1999.

BC Research Institute for Children's & Women's Health, Establishment Award, 2004-7.

SPP (Society for Pediatric Pathology) Young Investigator Award, February 2005.

Children's Cancer Fund Young Investigator Award, August, 2005.

Best presentation award, European Workshop for the Cytogenetics and Molecular Genetics of Solid Tumors, Nijmegen, The Netherlands, June 2010.

Best Presentation, International Cancer Conference, TCD, Cancer Genetics Section,September 2011.


Fellow, The Royal College of Pathologists of Great Britain and Ireland.

Member, American Association for Cancer Research.

Member, Societe Internationale d'Oncologie Paediatrique [SIOP].

Member, SIOP Renal Tumor Study Group.

Member, US and Canadian Academy of Pathology.

Member, Connective Tissue Oncology Society.

Member, Paediatric Pathology Society

Member, National Institutes of Health [NIH] Pediatric and Wild-type GIST Clinic