An unusual case of co-existing classic mantle cell lymphoma and transformed lymphoma with Burkitt-like features with leukemic presentation

Geling Li1, Yi Zhou1, Sindhu Cherian1, Emily Stevens2, Ryan Cassaday2,3, Xueyan Chen1
1Department of Laboratory Medicine, University of Washington, Seattle, USA
2Division of Hematology, University of Washington, Seattle, USA
3

Tóm tắt

Mantle cell lymphoma (MCL) is an aggressive mature B cell lymphoma characterized by the t(11;14) IGH-CCND1 translocation. The majority of the MCL harbors secondary genetic aberrations and the MYC gene rearrangement is occasionally detected. We reported a unique case of co-existence of a typical MCL and a transformed component with morphologic and immunophenotypic features resembling a Burkitt lymphoma in leukemic phase at disease presentation. Two distinct abnormal B cell populations were identified in the peripheral blood and bone marrow: a CD5+/CD10− population primarily in the peripheral blood (47.6 %) and a CD5−/CD10+ population predominantly in the marrow (83.8 %), which shared the same surface light chain restriction and identical immunoglobulin gene rearrangements. By cytogenetic studies, the CD10+ cells harbored both t(11;14) IGH-CCND1 and t(8;14) IGH-MYC whereas the CD5+ population only carried t(11;14) IGH-CCND1. The combined findings indicate that the Burkitt-like component represents a transformation from a typical MCL by acquiring t(8;14) and that the MYC rearrangement represents a secondary oncogenic event in MCL that drives the disease progression. This unique case described co-existence of clonally related MCL and a transformed component otherwise typical of a Burkitt lymphoma, both in leukemic phase at disease presentation, which provided direct evidence on the lymphomagenesis of MCL.

Từ khóa


Tài liệu tham khảo

Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW (2008) WHO classification of tumours of haematopoietic and lymphoid tissues, 4th edn. IARC, Lyon Jares P, Colomer D, Campo E (2007) Genetic and molecular pathogenesis of mantle cell lymphoma: perspectives for new targeted therapeutics. Nat Rev Cancer 7(10):750–762. doi:10.1038/nrc2230 Salaverria I, Zettl A, Bea S, Moreno V, Valls J, Hartmann E, Ott G, Wright G, Lopez-Guillermo A, Chan WC, Weisenburger DD, Gascoyne RD, Grogan TM, Delabie J, Jaffe ES, Montserrat E, Muller-Hermelink HK, Staudt LM, Rosenwald A, Campo E (2007) Specific secondary genetic alterations in mantle cell lymphoma provide prognostic information independent of the gene expression-based proliferation signature. J Clin Oncol Off J Am Soc Clin Oncol 25(10):1216–1222. doi:10.1200/JCO.2006.08.4251 Bea S, Valdes-Mas R, Navarro A, Salaverria I, Martin-Garcia D, Jares P, Gine E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizan P, Di Croce L, Puente DA, Lopez-Guerra M, Moros A, Roue G, Aymerich M, Villamor N, Colomo L, Martinez A, Valera A, Martin-Subero JI, Amador V, Hernandez L, Rozman M, Enjuanes A, Forcada P, Muntanola A, Hartmann EM, Calasanz MJ, Rosenwald A, Ott G, Hernandez-Rivas JM, Klapper W, Siebert R, Wiestner A, Wilson WH, Colomer D, Lopez-Guillermo A, Lopez-Otin C, Puente XS, Campo E (2013) Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. Proc Natl Acad Sci U S A 110(45):18250–18255. doi:10.1073/pnas.1314608110 Akhter A, Mahe E, Street L, Pournazari P, Perizzolo M, Shabani-Rad MT, Stewart DA, Mansoor A (2015) CD10-positive mantle cell lymphoma: biologically distinct entity or an aberrant immunophenotype? Insight, through gene expression profile in a unique case series. J Clin Pathol 68(10):844–848. doi:10.1136/jclinpath-2015-202955 Gao J, Peterson L, Nelson B, Goolsby C, Chen YH (2009) Immunophenotypic variations in mantle cell lymphoma. Am J Clin Pathol 132(5):699–706. doi:10.1309/AJCPV8LN5ENMZOVY Vose JM (2012) Mantle cell lymphoma: 2012 update on diagnosis, risk-stratification, and clinical management. Am J Hematol 87(6):604–609. doi:10.1002/ajh.23176 Shrestha R, Bhatt VR, Guru Murthy GS, Armitage JO (2015) Clinicopathologic features and management of blastoid variant of mantle cell lymphoma. Leuk Lymphoma:1–9. doi:10.3109/10428194.2015.1026902 Hsi ED, Martin P (2014) Indolent mantle cell lymphoma. Leuk Lymphoma 55(4):761–767. doi:10.3109/10428194.2013.815353 Martin P, Chadburn A, Christos P, Weil K, Furman RR, Ruan J, Elstrom R, Niesvizky R, Ely S, Diliberto M, Melnick A, Knowles DM, Chen-Kiang S, Coleman M, Leonard JP (2009) Outcome of deferred initial therapy in mantle-cell lymphoma. J Clin Oncol Off J Am Soc Clin Oncol 27(8):1209–1213. doi:10.1200/JCO.2008.19.6121 Wood B (2006) 9-Color and 10-color flow cytometry in the clinical laboratory. Arch Pathol Lab Med 130(5):680–690. doi:10.1043/1543-2165(2006)130[680:CACFCI]2.0.CO;2 Welzel N, Le T, Marculescu R, Mitterbauer G, Chott A, Pott C, Kneba M, Du MQ, Kusec R, Drach J, Raderer M, Mannhalter C, Lechner K, Nadel B, Jaeger U (2001) Templated nucleotide addition and immunoglobulin JH-gene utilization in t(11;14) junctions: implications for the mechanism of translocation and the origin of mantle cell lymphoma. Cancer Res 61(4):1629–1636 Aukema SM, Siebert R, Schuuring E, van Imhoff GW, Kluin-Nelemans HC, Boerma EJ, Kluin PM (2011) Double-hit B-cell lymphomas. Blood 117(8):2319–2331. doi:10.1182/blood-2010-09-297879 Lecluse Y, Lebailly P, Roulland S, Gac AC, Nadel B, Gauduchon P (2009) t(11;14)-Positive clones can persist over a long period of time in the peripheral blood of healthy individuals. Leukemia 23(6):1190–1193. doi:10.1038/leu.2009.31 Hartmann E, Fernandez V, Moreno V, Valls J, Hernandez L, Bosch F, Abrisqueta P, Klapper W, Dreyling M, Hoster E, Muller-Hermelink HK, Ott G, Rosenwald A, Campo E (2008) Five-gene model to predict survival in mantle-cell lymphoma using frozen or formalin-fixed, paraffin-embedded tissue. J Clin Oncol Off J Am Soc Clin Oncol 26(30):4966–4972. doi:10.1200/JCO.2007.12.0410 Hao S, Sanger W, Onciu M, Lai R, Schlette EJ, Medeiros LJ (2002) Mantle cell lymphoma with 8q24 chromosomal abnormalities: a report of 5 cases with blastoid features. Mod Pathol 15(12):1266–1272. doi:10.1097/01.MP.0000037310.82136.99 Au WY, Horsman DE, Viswanatha DS, Connors JM, Klasa RJ, Gascoyne RD (2000) 8q24 Translocations in blastic transformation of mantle cell lymphoma. Haematologica 85(11):1225–1227 Kaneko Y, Rowley JD, Variakojis D, Haren JM, Ueshima Y, Daly K, Kluskens LF (1983) Prognostic implications of karyotype and morphology in patients with non-Hodgkin’s lymphoma. Int J Cancer 32(6):683–692 Leroux D, Le Marc'Hadour F, Gressin R, Jacob MC, Keddari E, Monteil M, Caillot P, Jalbert P, Sotto JJ (1991) Non-Hodgkin’s lymphomas with t(11;14)(q13;q32): a subset of mantle zone/intermediate lymphocytic lymphoma? Br J Haematol 77(3):346–353 Michaux L, Wlodarska I, Theate I, Stul M, Scheiff JM, Deneys V, Ferrant A, Hagemeijer A (2004) Coexistence of BCL1/CCND1 and CMYC aberrations in blastoid mantle cell lymphoma: a rare finding associated with very poor outcome. Ann Hematol 83(9):578–583. doi:10.1007/s00277-004-0879-2 Reddy K, Ansari-Lari M, Dipasquale B (2008) Blastic mantle cell lymphoma with a Burkitt translocation. Leuk Lymphoma 49(4):740–750. doi:10.1080/10428190701852024 Sakurai H, Sugimoto KJ, Shimada A, Imai H, Wakabayashi M, Sekiguchi Y, Ota Y, Izutsu K, Takeuchi K, Komatsu N, Noguchi M (2015) Primary CNS CCND1/MYC-positive double-hit B-cell lymphoma: a case report and review of the literature. J Clin Oncol Off J Am Soc Clin Oncol 33(19):e79–e83. doi:10.1200/JCO.2013.49.1316 Seok Y, Kim J, Choi JR, Kim YR, Park SJ, Kim SJ, Song J, Lee KA (2012) CD5-negative blastoid variant mantle cell lymphoma with complex CCND1/IGH and MYC aberrations. Ann Lab Med 32(1):95–98. doi:10.3343/alm.2012.32.1.95 Tirier C, Zhang Y, Plendl H, Weber-Matthiesen K, Langer W, Heit W, Schlegelberger B (1996) Simultaneous presence of t(11;14) and a variant Burkitt's translocation in the terminal phase of a mantle cell lymphoma. Leukemia 10(2):346–350 Vaishampayan UN, Mohamed AN, Dugan MC, Bloom RE, Palutke M (2001) Blastic mantle cell lymphoma associated with Burkitt-type translocation and hypodiploidy. Br J Haematol 115(1):66–68 Ek S, Dictor M, Jerkeman M, Jirstrom K, Borrebaeck CA (2008) Nuclear expression of the non B-cell lineage Sox11 transcription factor identifies mantle cell lymphoma. Blood 111(2):800–805. doi:10.1182/blood-2007-06-093401 Royo C, Navarro A, Clot G, Salaverria I, Gine E, Jares P, Colomer D, Wiestner A, Wilson WH, Vegliante MC, Fernandez V, Hartmann EM, Trim N, Erber WN, Swerdlow SH, Klapper W, Dyer MJ, Vargas-Pabon M, Ott G, Rosenwald A, Siebert R, Lopez-Guillermo A, Campo E, Bea S (2012) Non-nodal type of mantle cell lymphoma is a specific biological and clinical subgroup of the disease. Leukemia 26(8):1895–1898. doi:10.1038/leu.2012.72 Nygren L, Baumgartner Wennerholm S, Klimkowska M, Christensson B, Kimby E, Sander B (2012) Prognostic role of SOX11 in a population-based cohort of mantle cell lymphoma. Blood 119(18):4215–4223. doi:10.1182/blood-2011-12-400580 Morice WG, Hodnefield JM, Kurtin PJ, Hanson CA (2004) An unusual case of leukemic mantle cell lymphoma with a blastoid component showing loss of CD5 and aberrant expression of CD10. Am J Clin Pathol 122(1):122–127. doi:10.1309/UD2C-6JVP-WHXQ-Q217 Felten CL, Stephenson CF, Ortiz RO, Hertzberg L (2004) Burkitt transformation of mantle cell lymphoma. Leuk Lymphoma 45(10):2143–2147. doi:10.1080/10428190410001711479