Splenic marginal zone lymphoma differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sowminya Arikapudi, M.B,B.S. [2]

Overview

Splenic marginal zone lymphoma must be differentiated from other diseases such as chronic lymphocytic leukemia, follicular lymphoma, and mantle cell lymphoma.[1]

Differential Diagnosis

Splenic marginal zone lymphoma(SMZL) must be differentiated from other splenic B-cell lymphomas with the help of clincal, morphological, immunophenotypic and genetic data as the treatment of all these conditions are different from each other.[2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][23][28][29]

Differential Diagnosis Cytogenetics Morphological Features Immunophenotype

Splenic marginal zone lymphoma

Splenic diffuse red pulp lymphoma

  • Uncommon: 7q deletion, trisomy 18, 17p deletion ( TP53)

Hairy cell leukemia variant

  • Common: Deletion 17p ( TP53),
  • Uncommon: 5q gain, deletion 7q
  • Gene mutation: MAP2K1

Hairy cell leukemia

  • Uncommon: 5q gain, 7q deletion
  • gene mutation: BRAF V600E

Lymphoplasmacytic lymphoma

  • Common: 6q deletion,
  • Uncommon: 13q deletion, 7q deletion
  • Gene mutation: MYD88 L265P

Chronic lymphocytic leukemia

Follicular lymphoma

Mantle cell lymphoma

References

  1. ↑ Splenic marginal zone lymphoma. Surveillance, Epidemiology, and End Results Program. http://seer.cancer.gov/seertools/hemelymph/51f6cf57e3e27c3994bd5327/. Accessed on January 14, 2016
  2. ↑ Matutes E, Oscier D, Montalban C, Berger F, Callet-Bauchu E, Dogan A, Felman P, Franco V, Iannitto E, Mollejo M, Papadaki T, Remstein ED, Salar A, Solé F, Stamatopoulos K, Thieblemont C, Traverse-Glehen A, Wotherspoon A, Coiffier B, Piris MA (March 2008). "Splenic marginal zone lymphoma proposals for a revision of diagnostic, staging and therapeutic criteria". Leukemia. 22 (3): 487–95. doi:10.1038/sj.leu.2405068. PMID 18094718.
  3. ↑ Salido M, Baró C, Oscier D, Stamatopoulos K, Dierlamm J, Matutes E, Traverse-Glehen A, Berger F, Felman P, Thieblemont C, Gesk S, Athanasiadou A, Davis Z, Gardiner A, Milla F, Ferrer A, Mollejo M, Calasanz MJ, Florensa L, Espinet B, Luño E, Wlodarska I, Verhoef G, García-Granero M, Salar A, Papadaki T, Serrano S, Piris MA, Solé F (September 2010). "Cytogenetic aberrations and their prognostic value in a series of 330 splenic marginal zone B-cell lymphomas: a multicenter study of the Splenic B-Cell Lymphoma Group". Blood. 116 (9): 1479–88. doi:10.1182/blood-2010-02-267476. PMID 20479288.
  4. ↑ Kiel MJ, Velusamy T, Betz BL, Zhao L, Weigelin HG, Chiang MY, Huebner-Chan DR, Bailey NG, Yang DT, Bhagat G, Miranda RN, Bahler DW, Medeiros LJ, Lim MS, Elenitoba-Johnson KS (August 2012). "Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma". J. Exp. Med. 209 (9): 1553–65. doi:10.1084/jem.20120910. PMC 3428949. PMID 22891276.
  5. ↑ Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G (August 2012). "The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development". J. Exp. Med. 209 (9): 1537–51. doi:10.1084/jem.20120904. PMC 3428941. PMID 22891273.
  6. ↑ Tiacci E, Trifonov V, Schiavoni G, Holmes A, Kern W, Martelli MP, Pucciarini A, Bigerna B, Pacini R, Wells VA, Sportoletti P, Pettirossi V, Mannucci R, Elliott O, Liso A, Ambrosetti A, Pulsoni A, Forconi F, Trentin L, Semenzato G, Inghirami G, Capponi M, Di Raimondo F, Patti C, Arcaini L, Musto P, Pileri S, Haferlach C, Schnittger S, Pizzolo G, Foà R, Farinelli L, Haferlach T, Pasqualucci L, Rabadan R, Falini B (June 2011). "BRAF mutations in hairy-cell leukemia". N. Engl. J. Med. 364 (24): 2305–15. doi:10.1056/NEJMoa1014209. PMID 21663470.
  7. ↑ Waterfall JJ, Arons E, Walker RL, Pineda M, Roth L, Killian JK, Abaan OD, Davis SR, Kreitman RJ, Meltzer PS (January 2014). "High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias". Nat. Genet. 46 (1): 8–10. doi:10.1038/ng.2828. PMC 3905739. PMID 24241536.
  8. ↑ Traverse-Glehen A, Baseggio L, Bauchu EC, Morel D, Gazzo S, Ffrench M, Verney A, Rolland D, Thieblemont C, Magaud JP, Salles G, Coiffier B, Berger F, Felman P (February 2008). "Splenic red pulp lymphoma with numerous basophilic villous lymphocytes: a distinct clinicopathologic and molecular entity?". Blood. 111 (4): 2253–60. doi:10.1182/blood-2007-07-098848. PMID 18042795.
  9. ↑ Braggio E, Dogan A, Keats JJ, Chng WJ, Huang G, Matthews JM, Maurer MJ, Law ME, Bosler DS, Barrett M, Lossos IS, Witzig TE, Fonseca R (May 2012). "Genomic analysis of marginal zone and lymphoplasmacytic lymphomas identified common and disease-specific abnormalities". Mod. Pathol. 25 (5): 651–60. doi:10.1038/modpathol.2011.213. PMC 3341516. PMID 22301699.
  10. ↑ Traverse-Glehen A, Bachy E, Baseggio L, Callet-Bauchu E, Gazzo S, Verney A, Hayette S, Jallades L, Ffrench M, Salles G, Coiffier B, Felman P, Berger F (May 2013). "Immunoarchitectural patterns in splenic marginal zone lymphoma: correlations with chromosomal aberrations, IGHV mutations, and survival. A study of 76 cases". Histopathology. 62 (6): 876–93. doi:10.1111/his.12092. PMID 23611359.
  11. ↑ Xi L, Arons E, Navarro W, Calvo KR, Stetler-Stevenson M, Raffeld M, Kreitman RJ (April 2012). "Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation". Blood. 119 (14): 3330–2. doi:10.1182/blood-2011-09-379339. PMC 3321859. PMID 22210875.
  12. ↑ Matutes E, Morilla R, Owusu-Ankomah K, Houlihan A, Catovsky D (March 1994). "The immunophenotype of splenic lymphoma with villous lymphocytes and its relevance to the differential diagnosis with other B-cell disorders". Blood. 83 (6): 1558–62. PMID 8123845.
  13. ↑ Venkataraman G, Aguhar C, Kreitman RJ, Yuan CM, Stetler-Stevenson M (October 2011). "Characteristic CD103 and CD123 expression pattern defines hairy cell leukemia: usefulness of CD123 and CD103 in the diagnosis of mature B-cell lymphoproliferative disorders". Am. J. Clin. Pathol. 136 (4): 625–30. doi:10.1309/AJCPKUM9J4IXCWEU. PMID 21917686.
  14. ↑ Ponzoni M, Kanellis G, Pouliou E, Baliakas P, Scarfò L, Ferreri AJ, Doglioni C, Bikos V, Dagklis A, Anagnostopoulos A, Ghia P, Stamatopoulos K, Papadaki T (November 2012). "Bone marrow histopathology in the diagnostic evaluation of splenic marginal-zone and splenic diffuse red pulp small B-cell lymphoma: a reliable substitute for spleen histopathology?". Am. J. Surg. Pathol. 36 (11): 1609–18. doi:10.1097/PAS.0b013e318271243d. PMID 23073320.
  15. ↑ Falini B, Tiacci E, Liso A, Basso K, Sabattini E, Pacini R, Foa R, Pulsoni A, Dalla Favera R, Pileri S (June 2004). "Simple diagnostic assay for hairy cell leukaemia by immunocytochemical detection of annexin A1 (ANXA1)". Lancet. 363 (9424): 1869–70. doi:10.1016/S0140-6736(04)16356-3. PMID 15183626.
  16. ↑ Kanellis G, Mollejo M, Montes-Moreno S, Rodriguez-Pinilla SM, Cigudosa JC, Algara P, Montalban C, Matutes E, Wotherspoon A, Piris MA (July 2010). "Splenic diffuse red pulp small B-cell lymphoma: revision of a series of cases reveals characteristic clinico-pathological features". Haematologica. 95 (7): 1122–9. doi:10.3324/haematol.2009.013714. PMID 20220064.
  17. ↑ Hunter ZR, Xu L, Yang G, Zhou Y, Liu X, Cao Y, Manning RJ, Tripsas C, Patterson CJ, Sheehy P, Treon SP (March 2014). "The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis". Blood. 123 (11): 1637–46. doi:10.1182/blood-2013-09-525808. PMID 24366360.
  18. ↑ Went PT, Zimpfer A, Pehrs AC, Sabattini E, Pileri SA, Maurer R, Terracciano L, Tzankov A, Sauter G, Dirnhofer S (April 2005). "High specificity of combined TRAP and DBA.44 expression for hairy cell leukemia". Am. J. Surg. Pathol. 29 (4): 474–8. PMID 15767800.
  19. ↑ Morice WG, Chen D, Kurtin PJ, Hanson CA, McPhail ED (June 2009). "Novel immunophenotypic features of marrow lymphoplasmacytic lymphoma and correlation with Waldenström's macroglobulinemia". Mod. Pathol. 22 (6): 807–16. doi:10.1038/modpathol.2009.34. PMID 19287458.
  20. ↑ Behdad A, Bailey NG (October 2014). "Diagnosis of splenic B-cell lymphomas in the bone marrow: a review of histopathologic, immunophenotypic, and genetic findings". Arch. Pathol. Lab. Med. 138 (10): 1295–301. doi:10.5858/arpa.2014-0291-CC. PMID 25268192.
  21. ↑ Shao H, Calvo KR, Grönborg M, Tembhare PR, Kreitman RJ, Stetler-Stevenson M, Yuan CM (April 2013). "Distinguishing hairy cell leukemia variant from hairy cell leukemia: development and validation of diagnostic criteria". Leuk. Res. 37 (4): 401–409. doi:10.1016/j.leukres.2012.11.021. PMC 5575750. PMID 23347903.
  22. ↑ Konkay K, Uppin MS, Uppin SG, Raghunadha Rao D, Geetha C, Paul TR (September 2014). "Hairy cell leukemia: clinicopathological and immunophenotypic study". Indian J Hematol Blood Transfus. 30 (3): 180–6. doi:10.1007/s12288-013-0231-x. PMC 4115087. PMID 25114404. Vancouver style error: initials (help)
  23. ↑ 23.0 23.1 Rudolf-Oliveira RC, Pirolli MM, de Souza FS, Michels J, Santos-Silva MC (2015). "Hairy cell leukemia variant: the importance of differential diagnosis". Rev Bras Hematol Hemoter. 37 (2): 132–5. doi:10.1016/j.bjhh.2015.01.003. PMC 4382572. PMID 25818826.
  24. ↑ Pileri SA, Falini B (November 2009). "Mantle cell lymphoma". Haematologica. 94 (11): 1488–92. doi:10.3324/haematol.2009.013359. PMC 2770958. PMID 19880776.
  25. ↑ Traverse-Glehen A, Baseggio L, Salles G, Coiffier B, Felman P, Berger F (April 2012). "Splenic diffuse red pulp small-B cell lymphoma: toward the emergence of a new lymphoma entity". Discov Med. 13 (71): 253–65. PMID 22541613.
  26. ↑ Rahman K, Subramanian PG, Kadam PA, Gadage V, Galani K, Mittal N, Ghogale S, Badrinath Y, Ansari R, Kushte S, Nair R, Sengar M, Menon H, Gujral S (2012). "Morphological spectrum of leukemic mantle cell lymphoma". Indian J Pathol Microbiol. 55 (1): 66–71. doi:10.4103/0377-4929.94860. PMID 22499304.
  27. ↑ Cessna MH, Hartung L, Tripp S, Perkins SL, Bahler DW (January 2005). "Hairy cell leukemia variant: fact or fiction". Am. J. Clin. Pathol. 123 (1): 132–8. PMID 15762289.
  28. ↑ Kansal R, Singleton TP, Ross CW, Finn WG, Padmore RF, Schnitzer B (January 2002). "Follicular hodgkin lymphoma: a histopathologic study". Am. J. Clin. Pathol. 117 (1): 29–35. doi:10.1309/M7YV-V8V2-A5VA-J1Y4. PMID 11789727.
  29. ↑ Autore F, Strati P, Laurenti L, Ferrajoli A (June 2018). "Morphological, immunophenotypic, and genetic features of chronic lymphocytic leukemia with trisomy 12: a comprehensive review". Haematologica. 103 (6): 931–938. doi:10.3324/haematol.2017.186684. PMC 6058775. PMID 29748447.

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