Splenic marginal zone lymphoma diagnostic study of choice

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Diagnostic Study of choice

  • Histological examination of the spleen is the gold standard but if it is not available then histological analysis and immunohistochemistry of the bone marrow biopsy specimen and blood are sufficient to make the diagnosis.

Histopathological examination of the spleen

  • To view the histopathological findings, Click here

Histopathological examination of Bone marrow biopsy

Immunohistochemistry

Cytogenetic analysis

    • Chromosomal 7q32 deletion (30-40%)[7]
    • Chromosome 3q gains (20-30%))[8]
    • NOTCH2 and KLF2 are the commonly reported gene mutations.[9][10][11]

Peripheral blood smear

  • Circulating lymphoma cells show short villi at the poles of cells and plasmacytoid differentiation[12]

References

  1. ↑ Papadaki T, Stamatopoulos K, Belessi C, Pouliou E, Parasi A, Douka V, Laoutaris N, Fassas A, Anagnostopoulos A, Anagnostou D (March 2007). "Splenic marginal-zone lymphoma: one or more entities? A histologic, immunohistochemical, and molecular study of 42 cases". Am. J. Surg. Pathol. 31 (3): 438–46. doi:10.1097/01.pas.0000213419.08009.b0. PMID 17325486.
  2. ↑ 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.
  3. ↑ Salomon-Nguyen F, Valensi F, Troussard X, Flandrin G (1996). "The value of the monoclonal antibody, DBA.44, in the diagnosis of B-lymphoid disorders". Leuk. Res. 20 (11–12): 909–13. PMID 9009248.
  4. ↑ Dufresne SD, Felgar RE, Sargent RL, Surti U, Gollin SM, McPhail ED, Cook JR, Swerdlow SH (April 2010). "Defining the borders of splenic marginal zone lymphoma: a multiparameter study". Hum. Pathol. 41 (4): 540–51. doi:10.1016/j.humpath.2009.09.007. PMID 20004934.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ Watkins AJ, Hamoudi RA, Zeng N, Yan Q, Huang Y, Liu H, Zhang J, Braggio E, Fonseca R, de Leval L, Isaacson PG, Wotherspoon A, McPhail ED, Dogan A, Du MQ (2012). "An integrated genomic and expression analysis of 7q deletion in splenic marginal zone lymphoma". PLoS ONE. 7 (9): e44997. doi:10.1371/journal.pone.0044997. PMC 3441634. PMID 23028731.
  8. ↑ Watkins AJ, Huang Y, Ye H, Chanudet E, Johnson N, Hamoudi R, Liu H, Dong G, Attygalle A, McPhail ED, Law ME, Isaacson PG, de Leval L, Wotherspoon A, Du MQ (March 2010). "Splenic marginal zone lymphoma: characterization of 7q deletion and its value in diagnosis". J. Pathol. 220 (4): 461–74. doi:10.1002/path.2665. PMID 20077527.
  9. ↑ Parry M, Rose-Zerilli MJ, Gibson J, Ennis S, Walewska R, Forster J, Parker H, Davis Z, Gardiner A, Collins A, Oscier DG, Strefford JC (2013). "Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma". PLoS ONE. 8 (12): e83244. doi:10.1371/journal.pone.0083244. PMC 3862727. PMID 24349473.
  10. ↑ 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.
  11. ↑ Clipson A, Wang M, de Leval L, Ashton-Key M, Wotherspoon A, Vassiliou G, Bolli N, Grove C, Moody S, Escudero-Ibarz L, Gundem G, Brugger K, Xue X, Mi E, Bench A, Scott M, Liu H, Follows G, Robles EF, Martinez-Climent JA, Oscier D, Watkins AJ, Du MQ (May 2015). "KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype". Leukemia. 29 (5): 1177–85. doi:10.1038/leu.2014.330. PMID 25428260.
  12. ↑ [1] Melo JV, Hegde U, Parreira A, Thompson I, Lampert IA, Catovsky D. "Splenic B cell lymphoma with circulating villous lymphocytes: differential diagnosis of B cell leukaemias with large spleens." J Clin Pathol. 1987 Jun;40(6):642-51. PMID: 3497180

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