Charles G. Mullighan, MBBS(Hons), MSc, MD

Charles G. Mullighan, MBBS(Hons), MSc, MD

Member, St. Jude Faculty



Contact Information

Charles Mullighan, MBBS(Hons), MSc, MD
MS 342, Room D-4047E
St. Jude Children's Research Hospital
262 Danny Thomas Place
Memphis, TN 38105-3678
Phone: (901) 595-3387
FAX: (901) 595-5947


MBBS(Hons) - University of Adelaide (1993)
MSc - University of London (1997)
MD - University of Adelaide (1998)
Fellowship of the Royal College of Pathologists of Australasia – 2004
Fellowship of the Royal Australasian College of Physicians - 2004

Honors & Awards

Research Interests

Selected Publications

Mullighan CG. Genome sequencing of lymphoid malignancies. Blood 2013; in press. [review].

Zuurbier L, Gutierrez A, Mullighan CG, Canté-Barrett K, Gevaert AO, de Rooi J, Li Y, Smits WK, Buijs-Gladdines JGCAM, Sonneveld E, Look AT, Horstmann M, Pieters R, Meijerink JPP. Immature MEF2C-dysregulated T-cell leukemia patients have an early T-cell precursor acute lymphoblastic leukemia gene signature and typically have non-rearranged T-cell receptors. Hematologica 2013; in press.

Mangum DS, Downie J, Mason C, Jahromi MS, Joshi D, Rodic V, Muschen M, Meeker N, Trede N, Frazer JK, Willman CL, Harvey RC, Hunger SP, Yang JJ, Barnette P, Mullighan CG, Miles RR,. Schiffman JD. VPREB1 Deletions Occur Independent of Lambda-Light Chain Rearrangement in Childhood Acute Lymphoblastic Leukemia. Leukemia 2013; in press.

Shah S*, KA Schrader*, Waanders E*, Timms A*, Vijai J*, Miething C*, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, Ma J, Chen S-C, Song G, Meyers P, Bhojwani D, Jhanwar S, Maslak P, Fleisher M, Littman J, Offit L, Rau-Murthy R, Fleischut MH, Gao X, Manschreck C, Kitzing T, Murty VV, Raimondi S, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler D, Ritter D, Ziegler DS, Tucker K, Sutton R, Chenevix-Trench G, Li J, Huntsman DG, Hansford S, Senz J, Walsh T, Lee M, Hahn CN, King M-C, Lipkin SM, Lo SM, Levine RL, Viale A, Socci ND, Nathanson KL, Daly M, Scott HS, Lowe SW, Downing JR, Altshuler D, Sandlund JT, Horwitz MS^, Mullighan CG^, Offit K^. Identification of a recurrent germline PAX5 mutation and susceptibility ot pre-B acute lymphoblastic leukemia. Nat Genet 2013; in press. *co-contributing, ^co-corresponding

Pounds SB, Cheng C, Li S, Liu Z, Zhang J, Mullighan CG. A Genomic Random Interval Model for Statistical Analysis of Genomic Lesion Data. Bioinformatics 2013; in press.

Figueroa ME, Chen S-C, Andersson AK, Phillips LA, Li Y, Sotzen J, Kundu M, Downing JR, Melnick AM, Mullighan CG. Integrated Genetic and Epigenetic Analysis of Childhood Acute Lymphoblastic Leukemia. J Clin Invest 2013; in press.

Defective K-Ras Oncoproteins Overcome Impaired Effector Activation to Initiate Leukemia In Vivo. Shieh A, Ward AF, Warner KL, Harding-Theobald ER, Xu J, Mullighan CG, Zhang C, Chen S-C., Su X, Downing JR, Bollag GE, Shannon KM. Defective K-Ras Oncoproteins Overcome Impaired Effector Activation to Initiate Leukemia In Vivo. Blood 2013;121:4884-93Gang EJ, Hsieh Y-T, Pham J, Zhao Y, Nguyen C, Huantes S, Park E, Naing K, Klemm L, Swaminathan S, Conway EM, Pelus L, Crispino J, Mullighan CG, MacMillan M, Müschen M, Kahn M, Kim Y-M. Small molecule inhibition of CBP/catenin interactions eliminates drug resistant clones in acute lymphoblastic leukemia Oncogene June 10, 2013 doi:10.1038/onc.2013.269; in press.

Weston BW, Hayden MA, Roberts KG, Bowyer S, Hsu J, Fedoriw G, Rao K, Mullighan CG. Tyrosine kinase inhibitor therapy induces remission in a patient with refractory EBF-PDGFRB positive acute lymphoblastic leukemia. J Clin Oncol 2013: in press. Published adead of print on July 8

Xu H, Yang W, Perez-Andreu V, Devidas M, Fan Y, Cheng C, Pei D, Scheet P, Gonzales Burchard E, Eng C, Huntsman S, Torgeson DG, Dean M, Winick NJ, Martin PL, Camitta BM, Bowman WP, Willman CL, Carroll WL, Mullighan CG, Bhojwani D, Hunger SP, Pui C-H, Evans WE, Relling MV, Loh M, Yang JJ. Novel Susceptibility Variants at 10p12.31-12.2 for Childhood Acute Lymphoblastic Leukemia in Ethnically diverse populations. J Natl Cancer Inst 105:733-42, 2013.

St. Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project, Zhang J, Wu G, Miller CP, Tatevossian RG, Dalton J, Tang B, Orisme W, Punchihewa C, Qaddoumi I, Boop FA, Lu C, Kandoth C, Ding L, Parker M, Lee R, Huether R, Chen X, Hedlund E, Nagahawatte P, Rusch M, Boggs K, Cheng J, Becksfort J, Ma J, Song G, Li Y, Wei L, Wang J, Shurtleff S, Easton J,Zhao D, Fulton RS, Fulton LA, Dooling DJ, Vadodaria B, Mulder HL, Tang C, Ochoa K, Mullighan CG, Gajjar A, Kriwacki R, Sheer D, Gilbertson RJ, Mardis ER, Wilson RK, Downing JR, Baker SJ, Ellison DW. Novel genetic alterations in pediatric low-grade gliomas: therapeutic targets for challenging disease subtypes. Nat Genet 45:602, 2013.

Inaba H, Greaves M, Mullighan CG. Acute Lymphoblastic Leukemia. Lancet 381:1943-55, 2013.

Cleveland SM, Smith S, Tripathi R, Mathias EM, Goodings C, Elliott N, Peng D, El-Rifai W, Yi D, Chen X, Li L, Mullighan C, Downing JR, Love P, Davé UP. Lmo2 induces hematopoietic stem cell like features in T-cell progenitor cells Prior to leukemia. Stem Cells 31:882-94, 2013.

Holmfeldt L, Wei L, Diaz-Flores E, Walsh M, Zhang J, Ding L, Payne-Turner D, Churchman M, Andersson A, Chen S-C, McCastlain K, Becksfort J, Ma J, Wu G, Patel SN, Heatley SL, Phillips LA, Song G, Easton J, Parker M, Chen X, Rusch M, Boggs K, Vadodaria B, Hedlund E, Drenberg C, Baker S, Pei D, Cheng C, Lu C, Fulton RS, Fulton L, Tabib Y, Dooling DJ, Ochoa K, Minden M, Lewis ID, To LB, Marlton P,  Roberts AW, Raca G, Stock W, Neale G, Drexler HG, Dickins RA, Ellison DW, Shurtleff SA, Pui C-H, Ribeiro RC, Devidas M, Carroll AJ, Heerema NA, Wood B, MJ Borowitz, Gastier-Foster JM, Raimondi SC, Mardis ER, Wilson RK, Downing JR, Hunger SP, Loh ML, Mullighan CG. The Genomic Landscape of Hypodiploid acute lymphoblastic leukemia. Nat Genet 45:242-52, 2013.

*Comment: This study used genomic analysis including whole genome sequencing to define the genetic basis of hypodiploid ALL, and aggressive form of leukemia. The study defined two distinct subtypes of hypodiploid ALL, identified a high frequency of mutations activating Ras signaling, inactivating mutations targeting the IKAROS family of transcription factors, and demonstrated low hypodiploid ALL to be a manifestation of Li Fraumeni syndrome.

Kreso A, O'Brien CA, van Galen P, Gan O, Notta F, Brown AM, Ng K, Ma J, Wienholds E, Dunant C, Pollett A, Gallinger S, McPherson J, Mullighan CG, Shibata D, Dick JE. Variable Clonal Repopulation Dynamics Influence Chemotherapy Response in Colorectal Cancer. Science. 339:543-8, 2013.

*See comment: Marusyk A, Polyak K. Cancer cell phenotypes, in fifty shades of grey. Science 339:528-9, 2013. doi: 10.1126/science.1234415.

Mullighan CG. The Molecular Genetic Makeup of Acute Lymphoblastic Leukemia. Hematology Am Soc Hematol Educ Program 2012:389-96, 2012. doi: 10.1182/asheducation-2012.1.389

Parker M, Chen X, Bahrami A, Dalton J, Rusch M, Wu G, Easton J, Cheung NK, Dyer M, Mardis ER, Wilson RK, Mullighan C, Gilbertson R, Baker SJ, Zambetti G, Ellison DW, Downing JR, Zhang J. Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data. Genome Biol. 13:R113, 2012.

Hussin J, Sinnett D, Casals F, Idaghdour Y, Bruat V, Saillour V, Healy J, Grenier JC, De Malliard T, Spinella JF, Lariviere M, Busche S, Gibson G, Andersson A, Holmfeldt L, Ma J, Wei L, Zhang J, Andelfinger G, Downing J, Mullighan C, Awadalla P. Rare allelic forms of PRDM9 associated with childhood leukemogenesis. Genome Res. 23:419-30, 2013. doi: 10.1101/gr.144188.112. Epub 2012 Dec 5.

Loh ML, Zhang J, Harvey RC, Roberts KG, Payne-Turner DL, Kang H, Wu G, Chen X, Becksfort J, Edmonson M, Buetow KE, Carroll WL, Chen I, Wood BL, Borowitz MJ, Devidas M, Gerhard DS, Bowman WP, Larsen EC, Winick NC, Raetz E, Smith M, Downing JR, Willman CL*, Mullighan CG*, Hunger SP* Tyrosine Kinome Sequencing of Pediatric Acute Lymphoblastic Leukemia: A Report from The Children’s Oncology Group TARGET Project. Blood 121:485-8 2013. doi: 10.1182/blood-2012-04-422691. Epub 2012 Dec 4. *Co-corresponding authors.

Yu S, Zhou X, Steinke FC, Liu C, Chen S-C, Zagorodna O, Jing X, Yokota Y, Meyerholz D, Mullighan CG, Knudson CM, Zhao D-M, Xue H-H. The TCF-1 and LEF-1 Transcription Factors Have Cooperative and Opposing Roles in T Cell Development and Malignancy. Immunity 37:813-26, 2012.

Maude SL, Tasian SK, Vincent T, Hall JW, Roberts KG, Mullighan CG, Hunger SP, Willman CL, Fridman JS, Loh ML, Grupp SA, Teachey ST. Targeting JAK1/2 and mTOR in Xenograft Models of Ph-like Acute Lymphoblastic Leukemia (ALL). Blood 120:3510-3518, 2012.

Tasian SK, Doral MY, Borowitz MJ, Wood BL, Chen I-M, Harvey RC, Gastier-Foster JM, Willman CL, Hunger SP, Mullighan CG, Loh ML. Aberrant STAT5 and PI3K/mTOR pathway signaling occurs in human CRLF2-rearranged B-precursor acute lymphoblastic leukemia. Blood 120:833-42, 2012.

Roberts KG*, Morin RD*, Zhang J, Hirst M, Zhao Y, Su X, Payne-Turner D, Chen X, Harvey RC, Kasap C, Yan C, Churchman M, Chen S-C, Becksfort J, Finney R, Teachey DT, Maude SL, Tse K, Moore R, Jones S, Mungall K, Birol I, Edmonson MN, Hu Y, Buetow KE, Chen I-M, Carroll WL, Wei L, Ma J, Larsen E, Shah NP, Devidas M, Reaman G, Smith M, Evans WE, Paugh SW, Grupp SA, Pui C-H, Gerhard DS, Downing JR, Willman CL, Loh M, Hunger SP, Marra M and Mullighan CG. Novel genetic alterations activating kinase and cytokine receptor signaling in high risk acute lymphoblastic leukemia. Cancer Cell 22:153-66, 2012.

Pui CH, Mullighan CG, Evans WE, Relling MV. Pediatric acute lymphoblastic leukemia: where are we going and how do we get there? Blood June 22, 2012.

Venn NC, van der Velden VH, de Bie M, Waanders E, Giles JE, Law T, Kuiper RP, de Haas V, Mullighan CG, Haber M, Marshall GM, Md N, van Dongen JJ, Sutton R. Highly sensitive MRD tests for ALL based on the IKZF1 Δ3-6 microdeletion. Leukemia 26(6):1414-16, 2012.

Loh ML, Mullighan CG. Advances in the genetics of high-risk childhood B-progenitor acute lymphoblastic leukemia and juvenile myelomonocytic leukemia: implications for therapy. Clin Cancer Res 18(10):2754-67, 2012.

Chen IM, Harvey RC, Mullighan CG, Gastier-Foster J, Wharton W, Kang H, Borowitz MJ, Camitta BM, Carroll AJ, Devidas M, Pullen DJ, Payne-Turner D, Taisan SK, Reshmi S, Cottrell CE, Reaman GH, Bowman WP, Carroll WL, Loh ML, Winick NJ, Hunger SP, Willman CL. Outcome modeling with CRLF2, IKZF1, JAK and minimal residual disease in pediatric acute lymphoblastic leukemia: a Children's Oncology Group study. Blood 119(15):3512-22, 2012.

St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project, Wu G, Broniscer A, McEachron TA, Lu C, Paugh BS, Becksfort J, Qu C, Ding L, Huether R, Parker M, Zhang J, Gajjar A, Dyer MA, Mullighan CG, Gilbertson RJ, Mardis ER, Wilson RK, Downing JR, Ellison DW, Zhang J, Baker SJ. Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. Nat Genet January 29, 2012.

Zhang J, Benavente CA, McEvoy J, Flores-Otero J, Ding L, Chen X, Ulyanov A, Wu G, Wilson M, Wang J, Brennan R, Rusch M, Manning AL, Ma J, Easton J, Shurtleff S, Mullighan C, Pounds S, Mukatira S, Gupta P, Neale G, Zhao D, Lu C, Fulton RS, Fulton LL, Hong X, Dooling DJ, Ochoa K, Naeve C, Dyson NJ, Mardis ER, Bahrami A, Ellison D, Wilson RK, Downing JR, Dyer MA. A novel retinoblastoma therapy from genomic and epigenetic analyses. Nature 481(7381):329-34, 2012.

Zhang J, Ding L, Holmfeldt L, Wu G, Heatley SL, Payne-Turner D, Easton J, Chen X, Wang J, Rusch M, Lu C, Chen SC, Wei L, Collins-Underwood JR, Ma J, Roberts KG, Pounds SB, Ulyanov A, Becksfort J, Gupta P, Huether R, Kriwacki RW, Parker M, McGoldrick DJ, Zhao D, Alford D, Espy S, Bobba KC, Song G, Pei D, Cheng C, Roberts S, Barbato MI, Campana D, Coustan-Smith E, Shurtleff SA, Raimondi SC, Kleppe M, Cools J, Shimano KA, Hermiston ML, Doulatov S, Eppert K, Laurenti E, Notta F, Dick JE, Basso G, Hunger SP, Loh ML, Devidas M, Wood B, Winter S, Dunsmore KP, Fulton RS, Fulton LL, Hong X, Harris CC, Dooling DJ, Ochoa K, Johnson KJ, Obenauer JC, Evans WE, Pui CH, Naeve CW, Ley TJ, Mardis ER, Wilson RK, Downing JR, Mullighan CG. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 481(7380):157-63, 2012.

Mullighan CG. Genomic profiling of B-progenitor acute lymphoblastic leukemia. Best Pract Res Clin Haematol 24(4):489-503, 2011.

Berquam-Vrieze KE, Nannapaneni K, Brett BT, Holmfeldt L, Ma J, Zagorodna O, Jenkins NA, Copeland NG, Meyerholz DK, Knudson CM, Mullighan CG, Scheetz TE, Dupuy AJ. Cell of origin strongly influences genetic selection in a mouse model of T-ALL. Blood 118(17):4646-56, 2011.

Rudner LA, Brown KH, Dobrinski KP, Bradley DF, Garcia MI, Smith ACH, Downie JM, Meeker ND, Look AT, Downing JR, Gutierrez A, Mullighan CG, Schiffman JD, Lee C, Trede NS, Frazer JK. Shared acquired genomic changes in zebrafish and human T-ALL. Oncogene 30(41):4289-96, 2011.

Diouf B, Cheng Q, Krynetskaia NF, Yang W, Cheok M, Pei D, Fan Y, Cheng C, Krynetskiy EY, Geng H, Chen S, Thierfelder WE, Mullighan CG, Downing JR, Hsieh P, Pui CH, Relling MV, Evans WE. Somatic deletions of genes regulating MSH2 protein stability cause DNA mismatch repair deficiency and drug resistance in human leukemia cells. Nat Med 17(10):1298-1303, 2011.

Pasqualucci L, Trifonov V, Fabbri G, Ma J, Rossi D, Chiarenza A, Wells VA, Grunn A, Messina M, Elliot O, Chan J, Bhagat G, Chadburn A, Gaidano G, Mullighan CG, Rabadan R, Dalla-Favera R. Analysis of the coding genome of diffuse large B-cell lymphoma. Nat Genet 43(9):830-7, 2011.

van der Weyden L, Giotopoulos G, Rust AG, Matheson LS, van Delft FW, Kong J, Corcoran AE, Greaves MF, Mullighan CG, Huntly BJ, Adams DJ. Modeling the evolution of ETV6-RUNX1-induced B-cell precursor acute lymphoblastic leukemia in mice. Blood 118(4):1041-51, 2011.

Hauer J, Mullighan C, Morillon E, Wang G, Bruneau J, Brousse N, Lelorc'h M, Romana S, Boudil A, Tiedau D, Kracker S, Bushmann FD, Borkhardt A, Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M. Loss of p19Arf in a Rag1(-/-) B-cell precursor population initiates acute B-lymphoblastic leukemia. Blood 118(3):544-53, 2011.

Fabbri G, Rasi S, Rossi D, Trifonov V, Khiabanian H, Ma J, Grunn A, Fangazio M, Capello D, Monti S, Cresta S, Gargiulo E, Forconi F, Guarini A, Arcaini L, Paulli M, Laurenti L, Larocca LM, Marasca R, Gattei V, Oscier D, Bertoni F, Mullighan CG, Foa R, Pasqualucci L, Rabadan R, Dalla-Favera R, Gaidano G. Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. J Exp Med 208(7):1389-1401, 2011.

Holmfeldt L, Mullighan CG. The role of TET2 in hematologic neoplasms. Cancer Cell 20(1):1-2, 2011.

Zhang J, Mullighan CG, Harvey RC, Wu G, Chen X, Edmonson M, Buetow KH, Carroll WL, Chen IM, Devidas M, Gerhard DS, Loh ML, Reaman GH, Relling MV, Camitta BM, Bowman WP, Smith MA, Willman CL, Downing JR, Hunger SP. Key pathways are frequently mutated in high risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood June 16, 2011.

Wang J, Mullighan CG, Easton J, Roberts S, Heatley SL, Ma J, Rusch MC, Chen K, Harris CC, Ding L, Holmfeldt L, Payne-Turner D, Fan X, Wei L, Zhao D, Obenauer JC, Naeve C, Mardis ER, Wilson RK, Downing JR, Zhang J. CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat Methods June 12, 2011.

Andersson AK, Miller DW, Lynch JA, Lemoff AS, Cai Z, Pounds SB, Radtke I, Yan B, Schuetz JD, Rubnitz JE, Ribeiro RC, Raimondi SC, Zhang J, Mullighan CG, Shurtleff SA, Schulman BA, Downing JR. IDH1 and IDH2 mutations in pediatric acute leukemia. Leukemia June 7, 2011.

Kannan S, Fang W, Song G, Mullighan CG, Hammitt R, McMurray J, Zweidler-McKay PA. Notch/HES1-mediated PARP1 activation: a cell type-specific mechanism for tumor suppression. Blood 117(10):2891-900, 2011.

Yang HC, Chang LC, Huggins RM, Chen CH, Mullighan CG. LOHAS: loss-of-heterozygosity analysis suite. Genet Epidemiol 35(4):247-260, 2011.

Collins-Underwood JR, Mullighan CG. Genetic alterations targeting lymphoid development in acute lymphoblastic leukemia. Curr Top Dev Biol, 94:171-96, 2011.

Hunger SP, Raetz EA, Loh ML, Mullighan CG. Improving outcomes for high-risk ALL: translating new discoveries into clinical care. Pediatr Blood Cancer, 56(6):984-93, 2011.

Mullighan CG. Single nucleotide polymorphism microarray analysis of genetic alterations in cancer. Methods Mol Biol, 730:235-58, 2011.

Pasqualucci L, Dominguez-Sola D, Chiarenza A, Fabbri G, Grunn A, Trifonov V, Kasper LH, Lerach S, Tang H, Ma J, Rossi D, Chadburn A, Murty VV, Mullighan CG, Gaidano G, Rabadan R, Brindle PK, Dalla-Favera R. Inactivating mutations of acetyltransferase genes in B-cell lymphoma. Nature, 471(7337):189, 2011.

Mullighan CG, Zhang J, Kasper LH, Lerach S, Payne-Turner D, Phillips LA, Heatley SL, Holmfeldt L, Collins-Underwood JR, Ma J, Buetow KH, Pui CH, Baker SD, Brindle PK, Downing JR. CREBBP mutations in relapsed acute lymphoblastic leukaemia. Nature, 471(7337):235-9, 2011.

Mullighan CG. New strategies in acute lymphoblastic leukemia: translating advances in genomics into clinical practice. Clin Cancer Res, 17(3):396-400, 2011.

Notta F, Mullighan CG, Wang JCY, Poeppl A, Doulatov S, Phillips LA, Ma J, Minden MD, Downing JR, Dick JE. Evolution of human BCR-ABL1 lymphoblastic leukaemia-initiating cells. Nature, 469(7330):108-114, 2011.

*See also commentary in:
Burgess DJ. Cancer genetics: Initially complex, always heterogeneous. Nat Rev Cancer 12(3):154-5, 2011.
Vyas P, Jacobsen SE. Clever leukemic stem cells branch out. Cell Stem Cell 8(3):242-4, 2011.

Mullighan C, Petersdorf E, Davies SM, DiPersio J. From trees to the forest: genes to genomics. Biol Blood Marrow Transplant, 17(1 Suppl):S52-S57, 2011.

Roberts KG, Mullighan CG. How new advances in genetic analysis are influencing the understanding and treatment of childhood acute leukemia. Curr Opin Pediatr, 2010.

Harvey RC, Mullighan CG, Wang X, Dobbin KK, Davidson GS, Bedrick EJ, Chen IM, Atlas SR, Kang H, Ar K, Wilson CS, Wharton W, Murphy M, Devidas M, Carroll AJ, Borowitz MJ, Bowman WP, Downing JR, Relling M, Yang J, Bhojwani D, Carroll WL, Camitta B, Reaman GH, Smith M, Hunger SP, Willman CL. Identification of novel cluster groups in pediatric high-risk B-precursor acute lymphoblastic leukemia with gene expression profiling: correlation with genome-wide DNA copy number alterations, clinical characteristics, and outcome. Blood 116(23):4874-4884, 2010.

Espinosa L, Cathelin S, D'Altri T, Trimarchi T, Statnikov A, Guiu J, Rodilla V, Ingles-Esteve J, Nomdedeu J, Bellosillo B, Besses C, Abdel-Wahab O, Kucine N, Sun SC, Song G, Mullighan CG, Levine RL, Rajewsky K, Aifantis I, Bigas A. The Notch/Hes1 pathway sustains NF-?B activation through CYLD repression in T cell leukemia. Cancer Cell 18(3):268-281, 2010.

Mullighan CG. T-lineage lymphoblastic lymphoma and leukemia-a MASSive problem. Cancer Cell 18(4):297-299, 2010.

Gutierrez A, Dahlberg SE, Neuberg DS, Zhang J, Grebliunaite R, Sanda T, Protopopov A, Tosello V, Kutok J, Larson RS, Borowitz MJ, Loh ML, Ferrando AA, Winter SS, Mullighan CG, Silverman LB, Chin L, Hunger SP, Sallan SE, Look AT. Absence of biallelic TCR? deletion predicts early treatment failure in pediatric T-cell acute lymphoblastic leukemia. J Clin Oncol July 19, 2010.

Holmfeldt L, Mullighan CG. PHF6 mutations in T-lineage acute lymphoblastic leukemia. Pediatr Blood Cancer June 29, 2010.

Stow P, Key L, Chen X, Pan Q, Neale GA, Coustan-Smith E, Mullighan CG, Zhou Y, Pui CH, Campana D. Clinical significance of low levels of minimal residual disease at the end of remission induction therapy in childhood acute lymphoblastic leukemia. Blood 115(23):4657-4663, 2010.

Mullighan CG. Genetic variation and the risk of acute lymphoblastic leukemia. Leuk Res June 8, 2010.

Kang H, Chen IM, Wilson CS, Bedrick EJ, Harvey RC, Atlas SR, Devidas M, Mullighan CG, Wang X, Murphy M, Ar K, Wharton W, Borowitz MJ, Bowman WP, Bhojwani D, Carroll WL, Camitta BM, Reaman GH, Smith MA, Downing JR, Hunger SP, Willman CL. Gene expression classifiers for relapse-free survival and minimal residual disease improve risk classification and outcome prediction in pediatric B-precursor acute lymphoblastic leukemia. Blood 115(7):1394-1205, 2010.

Mullighan CG, Collins-Underwood JR, Phillips LAA, Loudin MG, Liu W, Zhang J, Ma J, Coustan-Smith E, Harvey RC, Willman CL, Mikhail FM, Meyer J, Carroll AJ, Williams RT, Cheng J, Heerema NA, Basso G, Pession A, Pui CH, Raimondi SC, Hunger SP, Downing JR, Carroll WL, Rabin KR. Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. Nat Genet 41(11):1243-1246, 2009.

Mullighan CG. Genomic analysis of acute leukemia. Int J Lab Hematol May 18, 2009. [Epub ahead of print]

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 May 31, 2009. [Epub ahead of print]

Mullighan CG, Zhang J, Harvey RC, Collins-Underwood JR, Schulman BA, Phillips LAA, Tasian SK, Loh ML, Su X, Liu W, Devidas M, Atlas SR, Chen I-M, Clifford RJ, Gerhard DS, Carroll WL, Reaman GH, Smith M, Downing JR, Hunger SP and Willman CL. JAK mutations in high-risk childhood acute lymphoblastic leukemia. Proc Natl Acad Sci USA May 22, 2009 [Epub ahead of print]

Fujisaki H, Kakuda H, Imai C, Mullighan CG, Campana D. Replicative potential of human natural killer cells. Br J Haematol 145(5):606-613, 2009.

Worthley DG, Ruszkiewicz A, Davies R, Moore S, Nivison-Smith I, To LB, Browett P, Western R, Durrant S, So J, Young GP, Mullighan CG, Bardy PG, Michael MZ. Human gastrointestinal neoplasia-associated myofibroblasts can develop from bone marrow-derived cells following allogeneic stem cell transplantation. Stem Cells 12:1463, 2009.

Mullighan CG and Downing JR. Genome-wide profiling of genetic alterations in acute lymphoblastic leukemia - recent insights and future directions. Leukemia Feb 26, 2009. [Epub ahead of print]

Coustan-Smith E, Mullighan CG, Onciu M, Behm FG, Raimondi SC, Pei D, Cheng C, Su X, Rubnitz JE, Basso G, Biondi A, Pui CH, Downing JR, Campana D. Early T-cell precursor leukaemia: a subtype of very high-risk acute lymphoblastic leukaemia. Lancet Oncol Feb;10(2):147-56, 2009.

Worthley DL, Johnson DF, Eisen DP, Dean MM, Heatley SL, Tung J, Scott J, Padbury RT, Harley HA, Bardy PG, Angus PW, Mullighan CG. Donor mannose-binding lectin deficiency increases the likelihood of clinically significant infection after liver transplantation. Clin Infect Dis Jan 1, 2009. [Epub ahead of print]

Mullighan CG, Su X, Zhang J, Radtke I, Phillips LA, Miller CB, Ma J, Liu W, Cheng C, Schulman BA, Harvey RC, Chen I-M, Clifford RJ, Carroll WL, Reaman G, Bowman WP, Devidas M, Gerhard DS, Yang W, Relling MV, Shurtleff SA, Campana D, Borowitz M, Pui C-H, Smith M, Hunger SP, Willman C, Downing JR, and the Children's Oncology Group. Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia. N Engl J Med 360:470-80, 2009.

Mullighan CG, Downing JR. Global genomic characterization of acute lymphoblastic leukemia. Semin Hematol 46:3-15, 2009.

Pounds S, Cheng C, Mullighan C, Raimondi SC, Shurtleff S, Downing JR. Reference alignment of SNP microarray signals for copy number analysis of tumors. Bioinformatics 25:315-21, 2009.

French D, Yang W, Cheng C, Raimondi S, Mullighan CG, Downing JR, Evans WE, Pui C-H, Relling MV. Acquired variation outweighs inherited variation in whole genome analysis of methotrexate accumulation in leukemia. Blood 113:4512-20, 2009.

Mullighan CG. TET2 mutations in myelodysplasia and myeloid malignancies. Nat Genet 44(7):766-767, 2009.

Mullighan CG, Phillips LA, Su X, Ma J, Miller CB, Shurtleff SA, Downing JR. Genomic analysis of the clonal origins of relapsed acute lymphoblastic leukemia. Science 322:1377-80, 2008.

Mullighan CG. JAK2 - a new player in acute lymphoblastic leukemia. Lancet 372:1448-50, 2008

Mullighan CG, Williams RT, Downing JR, Sherr CJ. Failure of CDKN2A/B (INK4A/B-ARF)-mediated tumor suppression and resistance to targeted therapy in acute lymphoblastic leukemia induced by BCR-ABL1. Genes Dev 22:1411-5, 2008.

Mullighan CG, Downing JR. Ikaros and acute leukemia [review article]. Leuk Lymphoma 49:849-9, 2008.

Mullighan CG, Heatley SL, Danner S, Dean M, Doherty K, Hahn U, Bradstock KF, Minchinton RM, Schwarer AP, Szer J, Bardy PG. Mannose-binding lectin status is associated with risk of major infection following myeloablative sibling allogeneic hematopoietic stem cell transplantation. Blood 112:2120-8, 2008.

Mullighan CG, Miller CB, Radtke I, Phillips LA, Dalton J, Ma J, White D, Hughes TP, Le Beau MM, Pui C.-H., Relling MV, Shurtleff, SA, Downing JR. BCR-ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros. Nature 453:110-114, 2008.

*See also: ALL-SNP2

Mullighan CG, Kennedy A, Zhou X, Radtke I, Phillips LA, Shurtleff SA, Downing JR. Pediatric acute myeloid leukemia with nucleophosmin mutations is characterized by a gene expression profile with dysregulated HOX gene expression distinct from MLL-rearranged leukemias. Leukemia 21:2000-9, 2007.

Flotho C, Steinemann D, Mullighan CG, Neale G, Mayer K, Kratz CP, Schlegelberger B, Downing JR, Niemeyer CM. Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. Oncogene 26:5816, 2007.

Worthley DL, Bardy PG, Gordon DL, Mullighan CG. Mannose-binding lectin and gastric cancer. Int J Cancer 120:2751, 2007.

Mullighan CG, Goorha S, Radtke I, Miller CB, Coustan-Smith E, Dalton JD, Girtman K, Mathew S, Ma J, Pounds SB, Su X, Pui C-H, Relling MV, Evans WE, Shurtleff SA, Downing JR. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature 446:758-64, 2007.

*See also: ALL-SNP1

*See also commentary in:
Wang Y, Armstrong SA. Genome-wide SNP analysis in cancer: leukemia shows the way. Cancer Cell 11:308, 2007.
Golub TR. Genomics: global views of leukaemia. Nature 446:739, 2007.

Worthley DL*, Mullighan CG*, Dean MM, Gordon DL, Phillips P, Heatley SL, Young GP, Bardy PG. Mannose-binding lectin deficiency does not increase the prevalence of Helicobacter pylori seropositivity. Eur J Gastroenterol and Hepatol 19:147-152, 2007.

Mullighan CG, Bogdanos D-P, Vergani D, Bardy PG. Cytochrome P450 1A2 is a target antigen in hepatitic graft-versus-host disease. Bone Marrow Transplant 38:703-5, 2006.

Worthley DL, Bardy PG, Angus P, Harley H, Mullighan CG. Mannose-binding lectin polymorphisms and liver transplantation. Gastroenterology 129:1805-6, 2005.

Annells MF, Hart PH, Mullighan CG, Heatley SL, Robinson JS, McDonald HM. Polymorphisms in immunoregulatory genes and the risk of histologic chorioamnionitis in Caucasoid women: a case control study. BMC Pregnancy Childbirth 21:4, 2005.

Annells MF, Hart PH, Mullighan CG, Heatley SL, Robinson JS, Bardy P, McDonald HM. Interleukins-1, -4, -6, -10, tumor necrosis factor, transforming growth factor-beta, FAS, and mannose-binding protein C gene polymorphisms in Australian women: Risk of preterm birth. Am J Obstet Gynecol 191:2056-67, 2004.

Mullighan CG, Rischbieth A, Duncan EM, Lloyd JV. Acquired isolated factor VII deficiency associated with severe bleeding and successful treatment with recombinant FVIIa (NovoSeven). Blood Coagul Fibrinolysis 15:347-51, 2004.

Mullighan CG, Heatley S, Doherty K, Szabo F, Grigg A, Hughes T, Schwarer A, Szer J, Tait B, To B, Bardy P. Non-HLA immunogenetic polymorphisms and the risk of complications after allogeneic hemopoietic stem-cell transplantation. Transplantation 77:587-96, 2004.

Jannes J, Haemilton-Bruce MA, Pilotto L, Smith B, Mullighan CG, Bardy PG, Koblar SA. Tissue plasminogen activator .–7351C/T enhancer polymorphism is a risk factor for lacunar stroke. Stroke 35:1090-4, 2004.

Mullighan CG, Heatley S, Lester S, Rischmueller M, Gordon T, Bardy P. Fas gene promoter polymorphisms in primary Sjogren’s syndrome. Ann Rheum Dis 63:98-101, 2004.

Helbig KJ, Heatley SL, Harris RJ, Mullighan CG, Bardy PG, Marmion BP. Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q fever fatigue syndrome. Genes Immun 4:82-5, 2003.

Last updated: September 2013