Xinjie Xu, Ph.D.

  1. Medical Geneticist

Publications

  1. Koleilat A, Smadbeck JB, Zepeda-Mendoza CJ, Williamson CM, Pitel BA, Golden CL, Xu X, Greipp PT, Ketterling RP, Hoppman NL, Peterson JF, Harrison CJ, Akkari YMN, Tsuchiya KD, Shago M, Baughn LB. Characterization of unusual iAMP21 B-lymphoblastic leukemia (iAMP21-ALL) from the Mayo Clinic and Children's Oncology Group. Genes Chromosomes Cancer. 2022 Dec; 61 (12):710-719 Epub 2022 July 19
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  2. Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2022 Nov 14 [Epub ahead of print]
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  3. Gagnon MF, Berg HE, Meyer RG, Sukov WR, Van Dyke DL, Jenkins RB, Greipp PT, Thorland EC, Hoppman NL, Xu X, Baughn LB, Reichard KK, Ketterling RP, Peterson JF. Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual-color dual-fusion FISH studies. Genes Chromosomes Cancer. 2022 Oct; 61 (10):629-634 Epub 2022 June 10
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  4. Gagnon MF, Smadbeck JB, Sharma N, Blackburn PR, Demasi Benevides J, Akkari YMN, Jaroscak JJ, Znoyko I, Wolff DJ, Schandl CA, Meyer R, Greipp PT, Xu X, Hoppman NL, Ketterling RP, Peterson JF, Baughn LB. Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL. Leuk Lymphoma 2022 Sep; 63 (9):2243-2246 Epub 2022 May 04
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  5. Macke EL, Meyer RG, Hoppman NL, Ketterling RP, Greipp PT, Xu X, Baughn LB, Shafer DA, He RR, Peterson JF. Identification of a Cryptic t(8;20;21)(q22;p13;q22) Resulting in RUNX1T1/RUNX1 Fusion in a Patient with Newly Diagnosed Acute Myeloid Leukemia. Lab Med. 2022 Jul 4; 53 (4):e87-e90
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  6. Gagnon MF, Smadbeck JB, Vasmatzis G, Olteanu H, Wood AJ, Lewis DJ, Sharma N, Meyer RG, Greipp PT, Xu X, Hoppman NL, Baughn LB, Ketterling RP, Chiu A, Peterson JF. Identification of EWSR1 rearrangements in patients with immature hematopoietic neoplasms: A case series and review of literature. Ann Diagn Pathol. 2022 Jun; 58:151942 Epub 2022 Mar 23
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  7. Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 May; 3 (5):522-525
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  8. Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, Warner JL, Rao S, Natesan M, Shen H, Venstrom J, Roy S, Tao K, Kanagal-Shamanna R, Xu X, Ritter DI, Pagel K, Krysiak K, Dubuc A, Akkari YM, Li XS, Lee J, King I, Raca G, Wagner AH, Li MM, Plon SE, Kulkarni S, Griffith OL, Chakravarty D, Sonkin D. Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genet Med. 2022 May; 24 (5):986-998 Epub 2022 Jan 29
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  9. Akkari YMN, Baughn LB, Dubuc AM, Smith AC, Mallo M, Dal Cin P, Diez Campelo M, Gallego MS, Granada Font I, Haase DT, Schlegelberger B, Slavutsky I, Mecucci C, Levine RL, Hasserjian RP, Sole F, Levy B, Xu X. Guiding the global evolution of cytogenetic testing for hematologic malignancies. Blood. 2022 Apr 14; 139 (15):2273-2284
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  10. Begna KH, Xu X, Gangat N, Alkhateeb H, Patnaik MM, Al-Kali A, Elliott MA, Hogan WJ, Litzow MR, Hook CC, Wolanskyj-Spinner AP, Mangaonkar A, He R, Pardanani A, Shah M, Ketterling RP, Tefferi A. Core-binding factor acute myeloid leukemia: long-term outcome of 70 patients uniformly treated with "7+3". Blood Cancer J 2022 Apr 7; 12 (4):55 Epub 2022 Apr 07
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  11. Koleilat A, McGarrah PW, Olteanu H, Van Dyke DL, Smadbeck JB, Johnson SH, Vasmatzis G, Hoppman NL, Xu X, Ketterling RP, Greipp PT, Baughn LB, Patnaik MS, Peterson JF. Utilizing next-generation sequencing to characterize a case of acute myeloid leukemia with t(4;12)(q12;p13) in the absence of ETV6/CHIC2 and ETV6/PDGFRA gene fusions. Cancer Genet. 2022 Jan; 260-261:1-5 Epub 2021 Nov 06
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  12. Gagnon MF, Pearce KE, Greipp PT, Xu X, Hoppman NL, Ketterling RP, McPhail ED, King RL, Baughn LB, Peterson JF. MYC break-apart FISH probe set reveals frequent unbalanced patterns of uncertain significance when evaluating aggressive B-cell lymphoma. Blood Cancer J 2021 Nov 24; 11 (11):184
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  13. Guenzel AJ, Smadbeck JB, Golden CL, Williamson CM, Benevides Demasi JC, Vasmatzis G, Pearce KE, Olteanu H, Xu X, Hoppman NL, Greipp PT, Baughn LB, Ketterling RP, Peterson JF. Clinical utility of next generation sequencing to detect IGH/IL3 rearrangements [t(5;14)(q31.1;q32.1)] in B-lymphoblastic leukemia/lymphoma. Ann Diagn Pathol. 2021 Aug; 53:151761 Epub 2021 May 10
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  14. Xu X, Paxton CN, Hayashi RJ, Dunsmore KP, Winter SS, Hunger SP, Winick NJ, Carroll WL, Loh ML, Devidas M, Gross TG, Bollard CM, Perkins SL, Miles RR. Genomic and clinical characterization of early T-cell precursor lymphoblastic lymphoma. Blood Adv. 2021 Jul 27; 5 (14):2890-2900
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  15. Berg HE, Blackburn PR, Smadbeck JB, Swanson KE, Rice CS, Webley MR, Johnson SH, Vasmatzis G, Xu X, Greipp PT, Hoppman NL, Ketterling RP, Baughn LB, Boston CH, Sutton LM, Peterson JF. Detection of a Cryptic EP300/ZNF384 Gene Fusion by Chromosomal Microarray and Next-Generation Sequencing Studies in a Pediatric Patient with B-Lymphoblastic Leukemia. Lab Med. 2021 May 4; 52 (3):297-302
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  16. Pitel BA, Sharma N, Zepeda-Mendoza C, Smadbeck JB, Pearce KE, Cook JM, Vasmatzis G, Sachs Z, Kanagal-Shamanna R, Viswanatha D, Xiao S, Jenkins RB, Xu X, Hoppman NL, Ketterling RP, Peterson JF, Greipp PT, Baughn LB. Myeloid malignancies with 5q and 7q deletions are associated with extreme genomic complexity, biallelic TP53 variants, and very poor prognosis. Blood Cancer J 2021 Feb 8; 11 (2):18 Epub 2021 Feb 08
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  17. Berg HE, Blackburn PR, Baughn LB, Ketterling RP, Xu X, Greipp PT, Hoppman NL, Smadbeck JB, Vasmatzis G, Shi M, Reichard KK, Viswanatha DS, Jevremovic D, Maher GM, Peterson JF. Identification of a novel KMT2A/GIMAP8 gene fusion in a pediatric patient with acute undifferentiated leukemia. Genes Chromosomes Cancer. 2021 Feb; 60 (2):108-111 Epub 2020 Oct 21
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  18. Martig DS, Williamson CM, Xu X, Sukov WR, Greipp PT, Hoppman NL, Baughn LB, Ketterling RP, Peterson JF. Siblings with ETV6/RUNX1-positive B-lymphoblastic leukemia: A single site experience and review of the literature. Ann Diagn Pathol. 2020 Oct; 48:151588 Epub 2020 Aug 14
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  19. Blackburn PR, Smadbeck JB, Znoyko I, Webley MR, Pitel BA, Vasmatzis G, Xu X, Greipp PT, Hoppman NL, Ketterling RP, Baughn LB, Lindsey KG, Schandl CA, Wolff DJ, Peterson JF. Cryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia. Genes Chromosomes Cancer. 2020 Jul; 59 (7):422-427 Epub 2020 Mar 26
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  20. Polonis K, Schultz MJ, Olteanu H, Smadbeck JB, Johnson SH, Vasmatzis G, Xu X, Greipp PT, Ketterling RP, Hoppman NL, Baughn LB, Peterson JF. Detection of cryptic CCND1 rearrangements in mantle cell lymphoma by next generation sequencing. Ann Diagn Pathol. 2020 Jun; 46:151533 Epub 2020 May 06
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  21. Szankasi P, Bolia A, Liew M, Schumacher JA, Gee, Matynia AP, Li KD, Patel JL, Xu X, Salama M, Kelley TW. Comprehensive detection of chromosomal translocations in lymphoproliferative disorders by massively parallel sequencing J of Hematopahtology. 2019; 12(3):121-133.
  22. Xu X, Bryke C, Sukhanova M, Huxley E, Dash DP, Dixon-Mciver A, Fang M, Griepp PT, Hodge JC, Iqbal A, Jeffries S, Kanagal-Shamanna R, Quintero-Rivera F, Shetty S, Slovak ML, Yenamandra A, Lennon PA, Raca G. Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group. Cancer Genet. 2018 Dec; 228-229:218-235 Epub 2018 Oct 06
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  23. Kanagal-Shamanna R, Hodge JC, Tucker T, Shetty S, Yenamandra A, Dixon-McIver A, Bryke C, Huxley E, Lennon PA, Raca G, Xu X, Jeffries S, Quintero-Rivera F, Greipp PT, Slovak ML, Iqbal MA, Fang M. Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms. Cancer Genet. 2018 Dec; 228-229:197-217 Epub 2018 Oct 10
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  24. Hiemenz MC, Ostrow DG, Busse TM, Buckley J, Maglinte DT, Bootwalla M, Done J, Ji J, Raca G, Ryutov A, Xu X, Zhen CJ, Conroy JM, Hazard FK, Deignan JL, Rogers BB, Treece AL, Parham DM, Gai X, Judkins AR, Triche TJ, Biegel JA. OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. J Mol Diagn. 2018 Nov; 20 (6):765-776 Epub 2018 Aug 20
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  25. Shen W, Paxton CN, Szankasi P, Longhurst M, Schumacher JA, Frizzell KA, Sorrells SM, Clayton AL, Jattani RP, Patel JL, Toydemir R, Kelley TW, Xu X. Detection of genome-wide copy number variants in myeloid malignancies using next-generation sequencing. J Clin Pathol. 2018 Apr; 71 (4):372-378 Epub 2017 Dec 02
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  26. Maese L, Li KD, Xu X, Afify Z, Paxton CN, Putnam A. Acute Leukemia and Concurrent Mediastinal Germ Cell Tumor: Case Report and Literature Review. Fetal Pediatr Pathol. 2017 Apr; 36 (2):168-176 Epub 2017 Jan 19
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  27. Brown AF, Salama ME, Patel JL, Paxton CN, Xu X, Perkins SL, and Li K. PD-L1 protein expression in most EBV-driven lymphoproliferative disorders is not associated with 9p24.1 amplification Hematopathology. 2017 Mar; 2(2):58-68.
  28. Geiersbach KB, Willmore-Payne C, Pasi AV, Paxton CN, Werner TL, Xu X, Wittwer CT, Gulbahce HE, Downs-Kelly E. Genomic Copy Number Analysis of HER2-Equivocal Breast Cancers. Am J Clin Pathol. 2016 Oct; 146 (4):439-47 Epub 2016 Sept 10
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  29. Shen W, Szankasi P, Sederberg M, Schumacher J, Frizzell KA, Gee EP, Patel JL, South ST, Xu X, Kelley TW. Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy. Br J Haematol. 2016 Apr; 173 (1):49-58 Epub 2016 Jan 05
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  30. Li K, Xu X, Matynia A. Systemic Mastocytosis with Associated Clonal Hematologic Non-mast Cell Lineage Disease (SM-AHNMD) with Chronic Myelogenous Leukemia and Complex Cytogenetics: A Case Report and Literature Review Hematopathology. 2016 Mar; 1(1):61-68.
  31. Xu X, Johnson EB, Leverton L, Arthur A, Watson Q, Chang FL, Raca G, Laffin JJ. The advantage of using SNP array in clinical testing for hematological malignancies--a comparative study of three genetic testing methods. Cancer Genet. 2013 Sep-Oct; 206 (9-10):317-26 Epub 2013 Oct 24
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  32. Laimutis K, Jackson C, Xu X, Warman B, Sarunas R, Andriuskeviciute I, Birute P, Schimmenti LA, Raca G. Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. Am J Med Genet A. 2012 Jun; 158A(6):1437-41. Epub 2012 May 11
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  33. Vasquez-Velasquez AI, Garcia-Castillo HA, Gonzalez-Mercado MG, Davalos IP, Raca G, Xu X, Dwyer E, Xu X, Rivera H. Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism. Cytogenet Genome Res. 2011; 132 (4):233-8 Epub 2010 Nov 10
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  34. Xu X, Kedlaya R, Higuchi H, Ikeda S, Justice MJ, Setaluri V, Ikeda A. Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration. PLoS Genet. 2010 May 20; 6 (5):e1000956
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  35. Hirasawa M, Xu X, Trask RB, Maddatu TP, Johnson BA, Naggert JK, Nishina PM, Ikeda A. Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum. Mol Cell Neurosci. 2007 May; 35 (1):161-70 Epub 2007 Feb 23
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PST-20514989