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03.09.2022 | Review

Diagnostic approaches and future directions in Burkitt lymphoma and high-grade B-cell lymphoma

verfasst von: Rebecca L. King, Eric D. Hsi, Wing C. Chan, Miguel A. Piris, James R. Cook, David W. Scott, Steven H. Swerdlow

Erschienen in: Virchows Archiv | Ausgabe 1/2023

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Abstract

Since the 2016 WHO update, progress has been made in understanding the biology of Burkitt lymphoma (BL) and the concept of high-grade B-cell lymphomas (HGBCL) that allows some degree of refinement. The summary presented here reviews in detail the discussions of the Clinical Advisory Committee and expands upon the newly published 2022 International Consensus Classification for lymphoid malignancies (Campo et al. Blood, 2022). BL remains the prototypic HGBCL and diagnostic criteria are largely unchanged. HGBCL with MYC and BCL2 and HGBCL with MYC and BCL6 rearrangements are now separated to reflect biologic and pathologic differences. HGBCL, NOS remains a diagnosis of exclusion that should be used only in rare cases. FISH strategies for diffuse large B-cell lymphoma (DLBCL) and HGBCL are discussed in detail for these diseases. Advances in integrative analysis of mutations, structural abnormalities, copy number, and gene expression signatures allow a more nuanced view of the heterogeneity of DLBCL, NOS as well as definitions of HGBCL and point to where the future may be headed for classification of these diseases.

Pasqualucci L (2019) Molecular pathogenesis of germinal center-derived B cell lymphomas. Immunol Rev 288:240–261. https://doi.org/10.1111/imr.12745CrossRef

Swerdlow SH CE, Harris NL et al (2017) WHO classification of tumors of haematopoetic and lymphoid tissues (Revised 4th edn). IARC: Lyon 2017

Gebauer N, Witte HM, Merz H, Oschlies I, Klapper W, Caliebe A, Tharun L, Spielmann M, von Bubnoff N, Feller AC, MurgaPenas EM (2021) Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma. Blood Adv 5:5220–5225. https://doi.org/10.1182/bloodadvances.2021004635CrossRef

Offor UT, Akyea RK, Neequaye JE, Renner LA, Segbefia CI (2018) The changing clinical pattern of endemic Burkitt lymphoma in Western Africa: experience from a tertiary center in Ghana. Pediatr Blood Cancer 65:e27275. https://doi.org/10.1002/pbc.27275CrossRef

Rochford R (2021) Reframing Burkitt lymphoma: virology not epidemiology defines clinical variants. Ann Lymphoma. https://doi.org/10.21037/aol-21-18

Mbulaiteye SM, Anderson WF, Ferlay J, Bhatia K, Chang C, Rosenberg PS, Devesa SS, Parkin DM (2012) Pediatric, elderly, and emerging adult-onset peaks in Burkitt’s lymphoma incidence diagnosed in four continents, excluding Africa. Am J Hematol 87:573–578. https://doi.org/10.1002/ajh.23187CrossRef

Gibson TM, Morton LM, Shiels MS, Clarke CA, Engels EA (2014) Risk of non-Hodgkin lymphoma subtypes in HIV-infected people during the HAART era: a population-based study. AIDS 28:2313–2318. https://doi.org/10.1097/qad.0000000000000428CrossRef

Lim ST, Karim R, Nathwani BN, Tulpule A, Espina B, Levine AM (2005) AIDS-related Burkitt’s lymphoma versus diffuse large-cell lymphoma in the pre-highly active antiretroviral therapy (HAART) and HAART eras: significant differences in survival with standard chemotherapy. J Clin Oncol 23:4430–4438. https://doi.org/10.1200/jco.2005.11.973CrossRef

Alderuccio JP, Olszewski AJ, Evens AM, Collins GP, Danilov AV, Bower M, Jagadeesh D, Zhu C, Sperling A, Kim SH, Vaca R, Wei C, Sundaram S, Reddy N, Dalla Pria A, D’Angelo C, Farooq U, Bond DA, Berg S, Churnetski MC, Godara A, Khan N, Choi YK, Kassam S, Yazdy M, Rabinovich E, Post FA, Varma G, Karmali R, Burkart M, Martin P, Ren A, Chauhan A, Diefenbach C, Straker-Edwards A, Klein A, Blum KA, Boughan KM, Mian A, Haverkos BM, Orellana-Noia VM, Kenkre VP, Zayac A, Maliske SM, Epperla N, Caimi P, Smith SE, Kamdar M, Venugopal P, Feldman TA, Rector D, Smith SD, Stadnik A, Portell CA, Lin Y, Naik S, Montoto S, Lossos IS, Cwynarski K (2021) HIV-associated Burkitt lymphoma: outcomes from a US-UK collaborative analysis. Blood Adv 5:2852–2862. https://doi.org/10.1182/bloodadvances.2021004458CrossRef

10.

Gloghini A, Dolcetti R, Carbone A (2013) Lymphomas occurring specifically in HIV-infected patients: from pathogenesis to pathology. Semin Cancer Biol 23:457–467. https://doi.org/10.1016/j.semcancer.2013.08.004CrossRef

11.

Gualco G, Queiroga EM, Weiss LM, Klumb CE, Harrington WJ Jr, Bacchi CE (2009) Frequent expression of multiple myeloma 1/interferon regulatory factor 4 in Burkitt lymphoma. Hum Pathol 40:565–571. https://doi.org/10.1016/j.humpath.2008.07.021CrossRef

12.

Haralambieva E, Rosati S, van Noesel C, Boers E, van Marwijk KM, Schuuring E, Kluin P (2004) Florid granulomatous reaction in Epstein-Barr virus-positive nonendemic Burkitt lymphomas: report of four cases. Am J Surg Pathol 28:379–383. https://doi.org/10.1097/00000478-200403000-00011CrossRef

13.

Schrager JA, Pittaluga S, Raffeld M, Jaffe ES (2005) Granulomatous reaction in Burkitt lymphoma: correlation with EBV positivity and clinical outcome. Am J Surg Pathol 29:1115–1116CrossRef

14.

Li JN, Gao LM, Wang WY, Chen M, Li GD, Liu WP, Zhang WY (2014) HIV-related Burkitt lymphoma with florid granulomatous reaction: an unusual case with good outcome Int J. Clin Exp Pathol 7:7049–7053

15.

Campo E, Jaffe ES, Cook JR, Quintanilla-Martinez L, Swerdlow SH, Anderson KC, Brousset P, Cerroni L, de Leval L, Dirnhofer S, Dogan A, Feldman A, Fend F, Friedberg JW, Gaulard P, Ghia P, Horwitz SM, King RL, Salles GA, San-Miguel JF, Seymour JF, Treon SP, Vose J, Zucca E, Advani R, Ansell SM, Au WY, Barrionuevo C, Bergsagel PL, Chan WC, Cohen JI, d'Amore F, Davies AJ, Falini B, Ghobrial IM, Goodlad JR, Gribben JG, Hsi ED, Kahl BS, Kim WS, Kumar SK, LaCasce AS, Laurent C, Lenz G, Leonard JP, Link MP, López-Guillermo A, Mateos MV, Macintyre EA, Melnick AM, Morschhauser F, Nakamura S, Narbaitz M, Pavlovsky A, Pileri SA, Piris MA, Pro B, Rajkumar SVV, Rosen ST, Sander B, Sehn LH, Shipp MA, Smith SM, Staudt LM, Thieblemont C, Tousseyn T, Wilson WH, Yoshino T, Zinzani PL, Dreyling M, Scott DW, Winter JN, Zelenetz AD (2022) The international consensus classification of mature lymphoid neoplasms: a report from the Clinical Advisory Committee. Blood. https://doi.org/10.1182/blood.2022015851

16.

Wagener R, López C, Kleinheinz K, Bausinger J, Aukema SM, Nagel I, Toprak UH, Seufert J, Altmüller J, Thiele H, Schneider C, Kolarova J, Park J, Hübschmann D, MurgaPenas EM, Drexler HG, Attarbaschi A, Hovland R, Kjeldsen E, Kneba M, Kontny U, de Leval L, Nürnberg P, Oschlies I, Oscier D, Schlegelberger B, Stilgenbauer S, Wössmann W, Schlesner M, Burkhardt B, Klapper W, Jaffe ES, Küppers R, Siebert R (2018) IG-MYC (+) neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas. Blood 132:2280–2285. https://doi.org/10.1182/blood-2018-03-842088CrossRef

17.

López C, Kleinheinz K, Aukema SM, Rohde M, Bernhart SH, Hübschmann D, Wagener R, Toprak UH, Raimondi F, Kreuz M, Waszak SM, Huang Z, Sieverling L, Paramasivam N, Seufert J, Sungalee S, Russell RB, Bausinger J, Kretzmer H, Ammerpohl O, Bergmann AK, Binder H, Borkhardt A, Brors B, Claviez A, Doose G, Feuerbach L, Haake A, Hansmann ML, Hoell J, Hummel M, Korbel JO, Lawerenz C, Lenze D, Radlwimmer B, Richter J, Rosenstiel P, Rosenwald A, Schilhabel MB, Stein H, Stilgenbauer S, Stadler PF, Szczepanowski M, Weniger MA, Zapatka M, Eils R, Lichter P, Loeffler M, Möller P, Trümper L, Klapper W, Hoffmann S, Küppers R, Burkhardt B, Schlesner M, Siebert R (2019) Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma. Nat Commun 10:1459. https://doi.org/10.1038/s41467-019-08578-3CrossRef

18.

Grande BM, Gerhard DS, Jiang A, Griner NB, Abramson JS, Alexander TB, Allen H, Ayers LW, Bethony JM, Bhatia K, Bowen J, Casper C, Choi JK, Culibrk L, Davidsen TM, Dyer MA, Gastier-Foster JM, Gesuwan P, Greiner TC, Gross TG, Hanf B, Harris NL, He Y, Irvin JD, Jaffe ES, Jones SJM, Kerchan P, Knoetze N, Leal FE, Lichtenberg TM, Ma Y, Martin JP, Martin MR, Mbulaiteye SM, Mullighan CG, Mungall AJ, Namirembe C, Novik K, Noy A, Ogwang MD, Omoding A, Orem J, Reynolds SJ, Rushton CK, Sandlund JT, Schmitz R, Taylor C, Wilson WH, Wright GW, Zhao EY, Marra MA, Morin RD, Staudt LM (2019) Genome-wide discovery of somatic coding and noncoding mutations in pediatric endemic and sporadic Burkitt lymphoma. Blood 133:1313–1324. https://doi.org/10.1182/blood-2018-09-871418CrossRef

19.

National Cancer Institute (US) (2002) Childhood non-Hodgkin lymphoma treatment (PDQ®): health professional version. PDQ Cancer Information Summaries. National Cancer Institute (US), Bethesda (MD)

20.

Crombie J, LaCasce A (2021) The treatment of Burkitt lymphoma in adults. Blood 137:743–750. https://doi.org/10.1182/blood.2019004099CrossRef

21.

Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R, Advani R, Ghielmini M, Salles GA, Zelenetz AD, Jaffe ES (2016) The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood 127:2375–2390. https://doi.org/10.1182/blood-2016-01-643569CrossRef

22.

Copie-Bergman C, Cuillière-Dartigues P, Baia M, Briere J, Delarue R, Canioni D, Salles G, Parrens M, Belhadj K, Fabiani B, Recher C, Petrella T, Ketterer N, Peyrade F, Haioun C, Nagel I, Siebert R, Jardin F, Leroy K, Jais JP, Tilly H, Molina TJ, Gaulard P (2015) MYC-IG rearrangements are negative predictors of survival in DLBCL patients treated with immunochemotherapy: a GELA/LYSA study. Blood 126:2466–2474. https://doi.org/10.1182/blood-2015-05-647602CrossRef

23.

Horn H, Ziepert M, Becher C, Barth TF, Bernd HW, Feller AC, Klapper W, Hummel M, Stein H, Hansmann ML, Schmelter C, Moller P, Cogliatti S, Pfreundschuh M, Schmitz N, Trumper L, Siebert R, Loeffler M, Rosenwald A, Ott G, German High-Grade Non-Hodgkin Lymphoma Study G (2013) MYC status in concert with BCL2 and BCL6 expression predicts outcome in diffuse large B-cell lymphoma. Blood 121:2253–2263. https://doi.org/10.1182/blood-2012-06-435842CrossRef

24.

Johnson NA, Savage KJ, Ludkovski O, Ben-Neriah S, Woods R, Steidl C, Dyer MJ, Siebert R, Kuruvilla J, Klasa R, Connors JM, Gascoyne RD, Horsman DE (2009) Lymphomas with concurrent BCL2 and MYC translocations: the critical factors associated with survival. Blood 114:2273–2279. https://doi.org/10.1182/blood-2009-03-212191CrossRef

25.

Klapper W, Stoecklein H, Zeynalova S, Ott G, Kosari F, Rosenwald A, Loeffler M, Trümper L, Pfreundschuh M, Siebert R (2008) Structural aberrations affecting the MYC locus indicate a poor prognosis independent of clinical risk factors in diffuse large B-cell lymphomas treated within randomized trials of the German High-Grade Non-Hodgkin’s Lymphoma Study Group (DSHNHL). Leukemia 22:2226–2229. https://doi.org/10.1038/leu.2008.230CrossRef

26.

McPhail ED, Maurer MJ, Macon WR, Feldman AL, Kurtin PJ, Ketterling RP, Vaidya R, Cerhan JR, Ansell SM, Porrata LF, Nowakowski GS, Witzig TE, Habermann TM (2018) Inferior survival in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements is not associated with MYC/IG gene rearrangements. Haematologica 103:1899–1907. https://doi.org/10.3324/haematol.2018.190157CrossRef

27.

Rosenwald A, Bens S, Advani R, Barrans S, Copie-Bergman C, Elsensohn MH, Natkunam Y, Calaminici M, Sander B, Baia M, Smith A, Painter D, Pham L, Zhao S, Ziepert M, Jordanova ES, Molina TJ, Kersten MJ, Kimby E, Klapper W, Raemaekers J, Schmitz N, Jardin F, Stevens WBC, Hoster E, Hagenbeek A, Gribben JG, Siebert R, Gascoyne RD, Scott DW, Gaulard P, Salles G, Burton C, de Jong D, Sehn LH, Maucort-Boulch D (2019) Prognostic significance of MYC rearrangement and translocation partner in diffuse large B-cell lymphoma: a study by the Lunenburg Lymphoma Biomarker Consortium. J Clin Oncol 37:3359–3368. https://doi.org/10.1200/jco.19.00743CrossRef

28.

Savage KJ, Johnson NA, Ben-Neriah S, Connors JM, Sehn LH, Farinha P, Horsman DE, Gascoyne RD (2009) MYC gene rearrangements are associated with a poor prognosis in diffuse large B-cell lymphoma patients treated with R-CHOP chemotherapy. Blood 114:3533–3537. https://doi.org/10.1182/blood-2009-05-220095CrossRef

29.

Cucco F, Barrans S, Sha C, Clipson A, Crouch S, Dobson R, Chen Z, Thompson JS, Care MA, Cummin T, Caddy J, Liu H, Robinson A, Schuh A, Fitzgibbon J, Painter D, Smith A, Roman E, Tooze R, Burton C, Davies AJ, Westhead DR, Johnson PWM, Du MQ (2020) Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit. Leukemia 34:1329–1341. https://doi.org/10.1038/s41375-019-0691-6CrossRef

30.

Moore EM, Aggarwal N, Surti U, Swerdlow SH (2017) Further exploration of the complexities of large B-cell lymphomas with MYC abnormalities and the importance of a blastoid morphology. Am J Surg Pathol 41:1155–1166. https://doi.org/10.1097/pas.0000000000000818CrossRef

31.

Collinge BJ, Hilton LK, Wong J, Ben-Neriah S, Rushton CK, Slack GW, Farinha P, Cook JR, Ott G, Rosenwald A, Campo E, Amador C, Greiner TC, Raess PW, Song JY, Inghirami G, Jaffe ES, Weisenburger DD, Chan WC, Holte H, Beiske K, Fu K, Delabie J, Pittaluga S, Feldman AL, Savage KJ, Mungall AJ, Staudt LM, Steidl C, Rimsza LM, Morin RD, Scott DW (2021) Characterization of the genetic landscape of high-grade B-cell lymphoma, NOS– an LLMPP project. Hematol Oncol 39. https://doi.org/10.1002/hon.13_2880

32.

Künstner A, Witte HM, Riedl J, Bernard V, Stölting S, Merz H, Olschewski V, Peter W, Ketzer J, Busch Y, Trojok P, Bubnoff NV, Busch H, Feller AC, Gebauer N (2021) Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing. Haematologica. 107(8):1850–1863. https://doi.org/10.3324/haematol.2021.279631

33.

Merron B, Davies A (2018) Double hit lymphoma: how do we define it and how do we treat it? Best Pract Res Clin Haematol 31:233–240. https://doi.org/10.1016/j.beha.2018.07.012CrossRef

34.

Oki Y, Noorani M, Lin P, Davis RE, Neelapu SS, Ma L, Ahmed M, Rodriguez MA, Hagemeister FB, Fowler N, Wang M, Fanale MA, Nastoupil L, Samaniego F, Lee HJ, Dabaja BS, Pinnix CC, Medeiros LJ, Nieto Y, Khouri I, Kwak LW, Turturro F, Romaguera JE, Fayad LE, Westin JR (2014) Double hit lymphoma: the MD Anderson Cancer Center clinical experience. Br J Haematol 166:891–901. https://doi.org/10.1111/bjh.12982CrossRef

35.

Petrich AM, Gandhi M, Jovanovic B, Castillo JJ, Rajguru S, Yang DT, Shah KA, Whyman JD, Lansigan F, Hernandez-Ilizaliturri FJ, Lee LX, Barta SK, Melinamani S, Karmali R, Adeimy C, Smith S, Dalal N, Nabhan C, Peace D, Vose J, Evens AM, Shah N, Fenske TS, Zelenetz AD, Landsburg DJ, Howlett C, Mato A, Jaglal M, Chavez JC, Tsai JP, Reddy N, Li S, Handler C, Flowers CR, Cohen JB, Blum KA, Song K, Sun HL, Press O, Cassaday R, Jaso J, Medeiros LJ, Sohani AR, Abramson JS (2014) Impact of induction regimen and stem cell transplantation on outcomes in double-hit lymphoma: a multicenter retrospective analysis. Blood 124:2354–2361. https://doi.org/10.1182/blood-2014-05-578963CrossRef

36.

Snuderl M, Kolman OK, Chen YB, Hsu JJ, Ackerman AM, Dal Cin P, Ferry JA, Harris NL, Hasserjian RP, Zukerberg LR, Abramson JS, Hochberg EP, Lee H, Lee AI, Toomey CE, Sohani AR (2010) B-cell lymphomas with concurrent IGH-BCL2 and MYC rearrangements are aggressive neoplasms with clinical and pathologic features distinct from Burkitt lymphoma and diffuse large B-cell lymphoma. Am J Surg Pathol 34:327–340. https://doi.org/10.1097/PAS.0b013e3181cd3aebCrossRef

37.

Miao Y, Hu S, Lu X, Li S, Wang W, Medeiros LJ, Lin P (2016) Double-hit follicular lymphoma with MYC and BCL2 translocations: a study of 7 cases with a review of literature. Hum Pathol 58:72–77. https://doi.org/10.1016/j.humpath.2016.07.025CrossRef

38.

Miyaoka M, Kikuti YY, Carreras J, Ikoma H, Hiraiwa S, Ichiki A, Kojima M, Ando K, Yokose T, Sakai R, Hoshikawa M, Tomita N, Miura I, Takata K, Yoshino T, Takizawa J, Bea S, Campo E, Nakamura N (2018) Clinicopathological and genomic analysis of double-hit follicular lymphoma: comparison with high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements. Mod Pathol 31:313–326. https://doi.org/10.1038/modpathol.2017.134CrossRef

39.

Chaudhary S, Brown N, Song JY, Yang L, Skrabek P, Nasr MR, Wong JT, Bedell V, Murata-Collins J, Kochan L, Li J, Zhang W, Chan WC, Weisenburger DD, Perry AM (2021) Relative frequency and clinicopathologic characteristics of MYC-rearranged follicular lymphoma. Hum Pathol 114:19–27. https://doi.org/10.1016/j.humpath.2021.04.014CrossRef

40.

Bhavsar S, Liu YC, Gibson SE, Moore EM, Swerdlow SH (2022) Mutational landscape of TdT+ large B-cell lymphomas supports their distinction from B-lymphoblastic neoplasms: a multiparameter study of a rare and aggressive entity. Am J Surg Pathol 46:71–82. https://doi.org/10.1097/pas.0000000000001750CrossRef

41.

Khanlari M, Medeiros LJ, Lin P, Xu J, You MJ, Tang G, Yin CC, Wang W, Qiu L, Miranda RN, Bueso-Ramos CE, Li S (2021) Blastoid high-grade B-cell lymphoma initially presenting in bone marrow: a diagnostic challenge. Mod Pathol (2022 Mar) 35(3):419–426. https://doi.org/10.1038/s41379-021-00909-4

42.

Nie K, Redmond D, Eng KW, Zhang T, Cheng S, Mathew S, Elemento O, Tam W (2021) Mutation landscape, clonal evolution pattern, and potential pathogenic pathways in B-lymphoblastic transformation of follicular lymphoma. Leukemia 35:1203–1208. https://doi.org/10.1038/s41375-020-01014-2CrossRef

43.

Ok CY, Medeiros LJ, Thakral B, Tang G, Jain N, Jabbour E, Pierce SA, Konoplev S (2019) High-grade B-cell lymphomas with TdT expression: a diagnostic and classification dilemma. Mod Pathol 32:48–58. https://doi.org/10.1038/s41379-018-0112-9CrossRef

44.

Alsuwaidan A, Pirruccello E, Jaso J, Koduru P, Garcia R, Krueger J, Doucet M, Chaudhry R, Fuda F, Chen W (2019) Bright CD38 expression by flow cytometric analysis is a biomarker for double/triple hit lymphomas with a moderate sensitivity and high specificity. Cytometry B Clin Cytom 96:368–374. https://doi.org/10.1002/cyto.b.21770CrossRef

45.

Moench L, Sachs Z, Aasen G, Dolan M, Dayton V, Courville EL (2016) Double- and triple-hit lymphomas can present with features suggestive of immaturity, including TdT expression, and create diagnostic challenges. Leuk Lymphoma 57:2626–2635. https://doi.org/10.3109/10428194.2016.1143939CrossRef

46.

Scott DW, King RL, Staiger AM, Ben-Neriah S, Jiang A, Horn H, Mottok A, Farinha P, Slack GW, Ennishi D, Schmitz N, Pfreundschuh M, Nowakowski GS, Kahl BS, Connors JM, Gascoyne RD, Ott G, Macon WR, Rosenwald A (2018) High-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements with diffuse large B-cell lymphoma morphology. Blood 131:2060–2064. https://doi.org/10.1182/blood-2017-12-820605CrossRef

47.

Collinge B, Ben-Neriah S, Chong L, Boyle M, Jiang A, Miyata-Takata T, Farinha P, Craig JW, Slack GW, Ennishi D, Mottok A, Meissner B, Chavez EA, Gerrie AS, Villa D, Freeman C, Savage KJ, Sehn LH, Morin RD, Mungall AJ, Gascoyne RD, Marra MA, Connors JM, Steidl C, Scott DW (2021) The impact of MYC and BCL2 structural variants in tumors of DLBCL morphology and mechanisms of false-negative MYC IHC. Blood 137:2196–2208. https://doi.org/10.1182/blood.2020007193CrossRef

48.

Chisholm KM, Bangs CD, Bacchi CE, Molina-Kirsch H, Cherry A, Natkunam Y (2015) Expression profiles of MYC protein and MYC gene rearrangement in lymphomas. Am J Surg Pathol 39:294–303. https://doi.org/10.1097/pas.0000000000000365CrossRef

49.

Aukema SM, Siebert R, Schuuring E, van Imhoff GW, Kluin-Nelemans HC, Boerma EJ, Kluin PM (2011) Double-hit B-cell lymphomas. Blood 117:2319–2331. https://doi.org/10.1182/blood-2010-09-297879CrossRef

50.

Evrard SM, Péricart S, Grand D, Amara N, Escudié F, Gilhodes J, Bories P, Traverse-Glehen A, Dubois R, Brousset P, Parrens M, Laurent C (2019) Targeted next generation sequencing reveals high mutation frequency of CREBBP, BCL2 and KMT2D in high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements. Haematologica 104:e154–e157. https://doi.org/10.3324/haematol.2018.198572CrossRef

51.

Gebauer N, Bernard V, Feller AC, Merz H (2013) ID3 Mutations are recurrent events in double-hit B-cell lymphomas. Anticancer Res 33:4771–4778

52.

Momose S, Weißbach S, Pischimarov J, Nedeva T, Bach E, Rudelius M, Geissinger E, Staiger AM, Ott G, Rosenwald A (2015) The diagnostic gray zone between Burkitt lymphoma and diffuse large B-cell lymphoma is also a gray zone of the mutational spectrum. Leukemia 29:1789–1791. https://doi.org/10.1038/leu.2015.34CrossRef

53.

Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA (2018) Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med 24:679–690. https://doi.org/10.1038/s41591-018-0016-8CrossRef

54.

Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, TayKuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM (2018) Genetics and pathogenesis of diffuse large B-cell lymphoma. N Engl J Med 378:1396–1407. https://doi.org/10.1056/NEJMoa1801445CrossRef

55.

Wright GW, Huang DW, Phelan JD, Coulibaly ZA, Roulland S, Young RM, Wang JQ, Schmitz R, Morin RD, Tang J, Jiang A, Bagaev A, Plotnikova O, Kotlov N, Johnson CA, Wilson WH, Scott DW, Staudt LM (2020) A probabilistic classification tool for genetic subtypes of diffuse large B cell lymphoma with therapeutic implications. Cancer Cell 37:551-568.e514. https://doi.org/10.1016/j.ccell.2020.03.015CrossRef

56.

Ye Q, Xu-Monette ZY, Tzankov A, Deng L, Wang X, Manyam GC, Visco C, Montes-Moreno S, Zhang L, Dybkær K, Chiu A, Orazi A, Zu Y, Bhagat G, Richards KL, Hsi ED, Choi WW, van Krieken JH, Huh J, Ponzoni M, Ferreri AJ, Parsons BM, Møller MB, Piris MA, Winter JN, Medeiros LJ, Hu S, Young KH (2016) Prognostic impact of concurrent MYC and BCL6 rearrangements and expression in de novo diffuse large B-cell lymphoma. Oncotarget 7:2401–2416. https://doi.org/10.18632/oncotarget.6262CrossRef

57.

Li S, Desai P, Lin P, Yin CC, Tang G, Wang XJ, Konoplev SN, Khoury JD, Bueso-Ramos CE, Medeiros LJ (2016) MYC/BCL6 double-hit lymphoma (DHL): a tumour associated with an aggressive clinical course and poor prognosis. Histopathology 68:1090–1098. https://doi.org/10.1111/his.12884CrossRef

58.

Pillai RK, Sathanoori M, Van Oss SB, Swerdlow SH (2013) Double-hit B-cell lymphomas with BCL6 and MYC translocations are aggressive, frequently extranodal lymphomas distinct from BCL2 double-hit B-cell lymphomas. Am J Surg Pathol 37:323–332. https://doi.org/10.1097/PAS.0b013e31826cebadCrossRef

59.

Johnson SM, Umakanthan JM, Yuan J, Fedoriw Y, Bociek RG, Kaiser-Rogers K, Sanmann JN, Montgomery ND (2018) Lymphomas with pseudo-double-hit BCL6-MYC translocations due to t(3;8)(q27;q24) are associated with a germinal center immunophenotype, extranodal involvement, and frequent BCL2 translocations. Hum Pathol 80:192–200. https://doi.org/10.1016/j.humpath.2018.06.006CrossRef

60.

Ryan RJH, Drier Y, Whitton H, Cotton MJ, Kaur J, Issner R, Gillespie S, Epstein CB, Nardi V, Sohani AR, Hochberg EP, Bernstein BE (2015) Detection of enhancer-associated rearrangements reveals mechanisms of oncogene dysregulation in B-cell lymphoma Cancer. Discovery 5:1058–1071. https://doi.org/10.1158/2159-8290.Cd-15-0370CrossRef

61.

Chong LC, Ben-Neriah S, Slack GW, Freeman C, Ennishi D, Mottok A, Collinge B, Abrisqueta P, Farinha P, Boyle M, Meissner B, Kridel R, Gerrie AS, Villa D, Savage KJ, Sehn LH, Siebert R, Morin RD, Gascoyne RD, Marra MA, Connors JM, Mungall AJ, Steidl C, Scott DW (2018) High-resolution architecture and partner genes of MYC rearrangements in lymphoma with DLBCL morphology. Blood Adv 2:2755–2765. https://doi.org/10.1182/bloodadvances.2018023572CrossRef

62.

Stengel A, Kern W, Meggendorfer M, Haferlach T, Haferlach C (2019) Detailed molecular analysis and evaluation of prognosis in cases with high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements. Br J Haematol 185:951–954. https://doi.org/10.1111/bjh.15653CrossRef

63.

Bertrand P, Bastard C, Maingonnat C, Jardin F, Maisonneuve C, Courel MN, Ruminy P, Picquenot JM, Tilly H (2007) Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas. Leukemia 21:515–523. https://doi.org/10.1038/sj.leu.2404529CrossRef

64.

Muñoz-Mármol AM, Sanz C, Tapia G, Marginet R, Ariza A, Mate JL (2013) MYC status determination in aggressive B-cell lymphoma: the impact of FISH probe selection. Histopathology 63:418–424. https://doi.org/10.1111/his.12178CrossRef

65.

King RL, McPhail ED, Meyer RG, Vasmatzis G, Pearce K, Smadbeck JB, Ketterling RP, Smoley SA, Greipp PT, Hoppman NL, Peterson JF, Baughn LB (2019) False-negative rates for MYC fluorescence in situ hybridization probes in B-cell neoplasms. Haematologica 104:e248–e251. https://doi.org/10.3324/haematol.2018.207290CrossRef

66.

Dalla-Favera R, Bregni M, Erikson J, Patterson D, Gallo RC, Croce CM (1982) Human c-myc onc gene is located on the region of chromosome 8 that is translocated in Burkitt lymphoma cells. Proc Natl Acad Sci U S A 79:7824–7827. https://doi.org/10.1073/pnas.79.24.7824CrossRef

67.

Hilton LK, Tang J, Ben-Neriah S, Alcaide M, Jiang A, Grande BM, Rushton CK, Boyle M, Meissner B, Scott DW, Morin RD (2019) The double-hit signature identifies double-hit diffuse large B-cell lymphoma with genetic events cryptic to FISH. Blood 134:1528–1532. https://doi.org/10.1182/blood.2019002600CrossRef

68.

Landsburg DJ, Falkiewicz MK, Petrich AM, Chu BA, Behdad A, Li S, Medeiros LJ, Cassaday RD, Reddy NM, Bast MA, Vose JM, Kruczek KR, Smith SE, Patel P, Hernandez-Ilizaliturri F, Karmali R, Rajguru S, Yang DT, Maly JJ, Blum KA, Zhao W, Vanslambrouck C, Nabhan C (2016) Sole rearrangement but not amplification of MYC is associated with a poor prognosis in patients with diffuse large B cell lymphoma and B cell lymphoma unclassifiable. Br J Haematol 175:631–640. https://doi.org/10.1111/bjh.14282CrossRef

69.

Krull JE, Wenzl K, Hartert KT, Manske MK, Sarangi V, Maurer MJ, Larson MC, Nowakowski GS, Ansell SM, McPhail E, Habermann TM, Link BK, King RL, Cerhan JR, Novak AJ (2020) Somatic copy number gains in MYC, BCL2, and BCL6 identifies a subset of aggressive alternative-DH/TH DLBCL patients. Blood Cancer J 10:117. https://doi.org/10.1038/s41408-020-00382-3CrossRef

70.

Li S, Seegmiller AC, Lin P, Wang XJ, Miranda RN, Bhagavathi S, Medeiros LJ (2015) B-cell lymphomas with concurrent MYC and BCL2 abnormalities other than translocations behave similarly to MYC/BCL2 double-hit lymphomas. Mod Pathol 28:208–217. https://doi.org/10.1038/modpathol.2014.95CrossRef

71.

Schieppati F, Balzarini P, Fisogni S, Re A, Pagani C, Bianchetti N, Micheli L, Passi A, Ferrari S, Maifredi A, Bottelli C, Leopaldo R, Pellegrini V, Facchetti F, Rossi G, Tucci A (2020) An increase in MYC copy number has a progressive negative prognostic impact in patients with diffuse large B-cell and high-grade lymphoma, who may benefit from intensified treatment regimens. Haematologica 105:1369–1378. https://doi.org/10.3324/haematol.2019.223891CrossRef

72.

Sermer D, Bobillo S, Dogan A, Zhang Y, Seshan V, Lavery JA, Batlevi C, Caron P, Hamilton A, Hamlin P, Horwitz S, Joffe E, Kumar A, Matasar M, Noy A, Owens C, Moskowitz A, Palomba ML, Straus D, von Keudell G, Rodriguez-Rivera I, Falchi L, Zelenetz A, Yahalom J, Younes A (2020) Extra copies of MYC, BCL2, and BCL6 and outcome in patients with diffuse large B-cell lymphoma. Blood Adv 4:3382–3390. https://doi.org/10.1182/bloodadvances.2020001551CrossRef

73.

Stasik CJ, Nitta H, Zhang W, Mosher CH, Cook JR, Tubbs RR, Unger JM, Brooks TA, Persky DO, Wilkinson ST, Grogan TM, Rimsza LM (2010) Increased MYC gene copy number correlates with increased mRNA levels in diffuse large B-cell lymphoma. Haematologica 95:597–603. https://doi.org/10.3324/haematol.2009.012864CrossRef

74.

Testoni M, Kwee I, Greiner TC, Montes-Moreno S, Vose J, Chan WC, Chiappella A, Baldini L, Ferreri AJ, Gaidano G, Mian M, Zucca E, Bertoni F (2011) Gains of MYC locus and outcome in patients with diffuse large B-cell lymphoma treated with R-CHOP. Br J Haematol 155:274–277. https://doi.org/10.1111/j.1365-2141.2011.08675.xCrossRef

75.

Yoon SO, Jeon YK, Paik JH, Kim WY, Kim YA, Kim JE, Kim CW (2008) MYC translocation and an increased copy number predict poor prognosis in adult diffuse large B-cell lymphoma (DLBCL), especially in germinal centre-like B cell (GCB) type. Histopathology 53:205–217. https://doi.org/10.1111/j.1365-2559.2008.03076.xCrossRef

76.

Ennishi D, Jiang A, Boyle M, Collinge B, Grande BM, Ben-Neriah S, Rushton C, Tang J, Thomas N, Slack GW, Farinha P, Takata K, Miyata-Takata T, Craig J, Mottok A, Meissner B, Saberi S, Bashashati A, Villa D, Savage KJ, Sehn LH, Kridel R, Mungall AJ, Marra MA, Shah SP, Steidl C, Connors JM, Gascoyne RD, Morin RD, Scott DW (2019) Double-Hit gene expression signature defines a distinct subgroup of germinal center B-cell-like diffuse large B-cell lymphoma. J Clin Oncol 37:190–201. https://doi.org/10.1200/jco.18.01583CrossRef

77.

Sha C, Barrans S, Cucco F, Bentley MA, Care MA, Cummin T, Kennedy H, Thompson JS, Uddin R, Worrillow L, Chalkley R, van Hoppe M, Ahmed S, Maishman T, Caddy J, Schuh A, Mamot C, Burton C, Tooze R, Davies A, Du MQ, Johnson PWM, Westhead DR (2019) Molecular high-grade B-cell lymphoma: defining a poor-risk group that requires different approaches to therapy. J Clin Oncol 37:202–212. https://doi.org/10.1200/jco.18.01314CrossRef

78.

Dave SS, Fu K, Wright GW, Lam LT, Kluin P, Boerma EJ, Greiner TC, Weisenburger DD, Rosenwald A, Ott G, Müller-Hermelink HK, Gascoyne RD, Delabie J, Rimsza LM, Braziel RM, Grogan TM, Campo E, Jaffe ES, Dave BJ, Sanger W, Bast M, Vose JM, Armitage JO, Connors JM, Smeland EB, Kvaloy S, Holte H, Fisher RI, Miller TP, Montserrat E, Wilson WH, Bahl M, Zhao H, Yang L, Powell J, Simon R, Chan WC, Staudt LM (2006) Molecular diagnosis of Burkitt’s lymphoma. N Engl J Med 354:2431–2442. https://doi.org/10.1056/NEJMoa055759CrossRef

79.

Hummel M, Bentink S, Berger H, Klapper W, Wessendorf S, Barth TF, Bernd HW, Cogliatti SB, Dierlamm J, Feller AC, Hansmann ML, Haralambieva E, Harder L, Hasenclever D, Kühn M, Lenze D, Lichter P, Martin-Subero JI, Möller P, Müller-Hermelink HK, Ott G, Parwaresch RM, Pott C, Rosenwald A, Rosolowski M, Schwaenen C, Stürzenhofecker B, Szczepanowski M, Trautmann H, Wacker HH, Spang R, Loeffler M, Trümper L, Stein H, Siebert R (2006) A biologic definition of Burkitt’s lymphoma from transcriptional and genomic profiling. N Engl J Med 354:2419–2430. https://doi.org/10.1056/NEJMoa055351CrossRef

80.

Mlynarczyk C, Fontán L, Melnick A (2019) Germinal center-derived lymphomas: the darkest side of humoral immunity. Immunol Rev 288:214–239. https://doi.org/10.1111/imr.12755CrossRef

81.

Tripodo C, Zanardi F, Iannelli F, Mazzara S, Vegliante M, Morello G, Di Napoli A, Mangogna A, Facchetti F, Sangaletti S, Chiodoni C, VanShoiack A, Jeyasekharan AD, Casola S, Colombo MP, Ponzoni M, Pileri SA (2020) A Spatially resolved dark- versus light-zone microenvironment signature subdivides germinal center-related aggressive B cell lymphomas. iScience 23:101562. https://doi.org/10.1016/j.isci.2020.101562CrossRef

82.

Song JY, Perry AM, Herrera AF, Chen L, Skrabek P, Nasr MR, Ottesen RA, Nikowitz J, Bedell V, Murata-Collins J, Li Y, McCarthy C, Pillai R, Wang J, Wu X, Zain J, Popplewell L, Kwak LW, Nademanee AP, Niland JC, Scott DW, Gong Q, Chan WC, Weisenburger DD (2021) Double-hit signature with TP53 abnormalities predicts poor survival in patients with germinal center type diffuse large B-cell lymphoma treated with R-CHOP. Clin Cancer Res 27:1671–1680. https://doi.org/10.1158/1078-0432.Ccr-20-2378CrossRef

83.

Li J, Liu X, Yao Z, Zhang M (2020) High-grade B-cell lymphomas, not otherwise specified: a study of 41 cases. Cancer Manag Res 12:1903–1912. https://doi.org/10.2147/cmar.S243753CrossRef

84.

Olszewski A, Kurt H, Evens AM (2021) Defining and treating high-grade B-cell lymphoma. NOS Blood. https://doi.org/10.1182/blood.2020008374CrossRef

85.

Hüttl KS, Staiger AM, Richter J, Ott MM, Kalmbach S, Klapper W, Biesdorf AS, Trümper L, Rosenwald A, Ziepert M, Horn H, Ott G (2021) The “Burkitt-like” immunophenotype and genotype is rarely encountered in diffuse large B cell lymphoma and high-grade B cell lymphoma. NOS Virchows Arch 479:575–583. https://doi.org/10.1007/s00428-021-03050-4CrossRef

Titel: Diagnostic approaches and future directions in Burkitt lymphoma and high-grade B-cell lymphoma
verfasst von: Rebecca L. King
Eric D. Hsi
Wing C. Chan
Miguel A. Piris
James R. Cook
David W. Scott
Steven H. Swerdlow
Publikationsdatum: 03.09.2022
Verlag: Springer Berlin Heidelberg
Erschienen in: Virchows Archiv / Ausgabe 1/2023
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-022-03404-6

Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

Diagnostic approaches and future directions in Burkitt lymphoma and high-grade B-cell lymphoma

Abstract

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

Abstract

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