Splenic marginal zone lymphoma diagnostic study of choice: Difference between revisions

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===Immunohistochemistry===
===Immunohistochemistry===
** [[Splenic marginal zone lymphoma]] ([[SMZL]]) is typically positive [[CD20]], [[CD79a]], BCL2 and surface [[immunoglobulin M]] ([[IgM]]).<ref name="pmid17325486">{{cite journal |vauthors=Papadaki T, Stamatopoulos K, Belessi C, Pouliou E, Parasi A, Douka V, Laoutaris N, Fassas A, Anagnostopoulos A, Anagnostou D |title=Splenic marginal-zone lymphoma: one or more entities? A histologic, immunohistochemical, and molecular study of 42 cases |journal=Am. J. Surg. Pathol. |volume=31 |issue=3 |pages=438–46 |date=March 2007 |pmid=17325486 |doi=10.1097/01.pas.0000213419.08009.b0 |url=}}</ref><ref name="pmid8123845">{{cite journal |vauthors=Matutes E, Morilla R, Owusu-Ankomah K, Houlihan A, Catovsky D |title=The immunophenotype of splenic lymphoma with villous lymphocytes and its relevance to the differential diagnosis with other B-cell disorders |journal=Blood |volume=83 |issue=6 |pages=1558–62 |date=March 1994 |pmid=8123845 |doi= |url=}}</ref>
* [[Splenic marginal zone lymphoma]] ([[SMZL]]) is typically positive [[CD20]], [[CD79a]], BCL2 and surface [[immunoglobulin M]] ([[IgM]]).<ref name="pmid17325486">{{cite journal |vauthors=Papadaki T, Stamatopoulos K, Belessi C, Pouliou E, Parasi A, Douka V, Laoutaris N, Fassas A, Anagnostopoulos A, Anagnostou D |title=Splenic marginal-zone lymphoma: one or more entities? A histologic, immunohistochemical, and molecular study of 42 cases |journal=Am. J. Surg. Pathol. |volume=31 |issue=3 |pages=438–46 |date=March 2007 |pmid=17325486 |doi=10.1097/01.pas.0000213419.08009.b0 |url=}}</ref><ref name="pmid8123845">{{cite journal |vauthors=Matutes E, Morilla R, Owusu-Ankomah K, Houlihan A, Catovsky D |title=The immunophenotype of splenic lymphoma with villous lymphocytes and its relevance to the differential diagnosis with other B-cell disorders |journal=Blood |volume=83 |issue=6 |pages=1558–62 |date=March 1994 |pmid=8123845 |doi= |url=}}</ref>
** Surface [[immunoglobulin D]] ([[IgD]]) and DBA44 are variably expressed.<ref name="pmid9009248">{{cite journal |vauthors=Salomon-Nguyen F, Valensi F, Troussard X, Flandrin G |title=The value of the monoclonal antibody, DBA.44, in the diagnosis of B-lymphoid disorders |journal=Leuk. Res. |volume=20 |issue=11-12 |pages=909–13 |date=1996 |pmid=9009248 |doi= |url=}}</ref>
* Surface [[immunoglobulin D]] ([[IgD]]) and DBA44 are variably expressed.<ref name="pmid9009248">{{cite journal |vauthors=Salomon-Nguyen F, Valensi F, Troussard X, Flandrin G |title=The value of the monoclonal antibody, DBA.44, in the diagnosis of B-lymphoid disorders |journal=Leuk. Res. |volume=20 |issue=11-12 |pages=909–13 |date=1996 |pmid=9009248 |doi= |url=}}</ref>
** [[Splenic marginal zone lymphoma]] (SMZL]]) is typically negative for [[CD5]], [[CD10]], [[CD43]], [[CD103]], CD123, [[Annexin A1]], [[BCL6]] and LEF1.<ref name="pmid20004934">{{cite journal |vauthors=Dufresne SD, Felgar RE, Sargent RL, Surti U, Gollin SM, McPhail ED, Cook JR, Swerdlow SH |title=Defining the borders of splenic marginal zone lymphoma: a multiparameter study |journal=Hum. Pathol. |volume=41 |issue=4 |pages=540–51 |date=April 2010 |pmid=20004934 |doi=10.1016/j.humpath.2009.09.007 |url=}}</ref><ref name="pmid25268192">{{cite journal |vauthors=Behdad A, Bailey NG |title=Diagnosis of splenic B-cell lymphomas in the bone marrow: a review of histopathologic, immunophenotypic, and genetic findings |journal=Arch. Pathol. Lab. Med. |volume=138 |issue=10 |pages=1295–301 |date=October 2014 |pmid=25268192 |doi=10.5858/arpa.2014-0291-CC |url=}}</ref><ref name="pmid21917686">{{cite journal |vauthors=Venkataraman G, Aguhar C, Kreitman RJ, Yuan CM, Stetler-Stevenson M |title=Characteristic CD103 and CD123 expression pattern defines hairy cell leukemia: usefulness of CD123 and CD103 in the diagnosis of mature B-cell lymphoproliferative disorders |journal=Am. J. Clin. Pathol. |volume=136 |issue=4 |pages=625–30 |date=October 2011 |pmid=21917686 |doi=10.1309/AJCPKUM9J4IXCWEU |url=}}</ref>
* [[Splenic marginal zone lymphoma]] (SMZL]]) is typically negative for [[CD5]], [[CD10]], [[CD43]], [[CD103]], CD123, [[Annexin A1]], [[BCL6]] and LEF1.<ref name="pmid20004934">{{cite journal |vauthors=Dufresne SD, Felgar RE, Sargent RL, Surti U, Gollin SM, McPhail ED, Cook JR, Swerdlow SH |title=Defining the borders of splenic marginal zone lymphoma: a multiparameter study |journal=Hum. Pathol. |volume=41 |issue=4 |pages=540–51 |date=April 2010 |pmid=20004934 |doi=10.1016/j.humpath.2009.09.007 |url=}}</ref><ref name="pmid21917686">{{cite journal |vauthors=Venkataraman G, Aguhar C, Kreitman RJ, Yuan CM, Stetler-Stevenson M |title=Characteristic CD103 and CD123 expression pattern defines hairy cell leukemia: usefulness of CD123 and CD103 in the diagnosis of mature B-cell lymphoproliferative disorders |journal=Am. J. Clin. Pathol. |volume=136 |issue=4 |pages=625–30 |date=October 2011 |pmid=21917686 |doi=10.1309/AJCPKUM9J4IXCWEU |url=}}</ref>


===Cytogenetic analysis===
===Cytogenetic analysis===
** Chromosomal 7q32 deletion (30-40%)<ref name="pmid23028731">{{cite journal |vauthors=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 |title=An integrated genomic and expression analysis of 7q deletion in splenic marginal zone lymphoma |journal=PLoS ONE |volume=7 |issue=9 |pages=e44997 |date=2012 |pmid=23028731 |pmc=3441634 |doi=10.1371/journal.pone.0044997 |url=}}</ref>
* Chromosomal 7q32 deletion (30-40%)<ref name="pmid23028731">{{cite journal |vauthors=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 |title=An integrated genomic and expression analysis of 7q deletion in splenic marginal zone lymphoma |journal=PLoS ONE |volume=7 |issue=9 |pages=e44997 |date=2012 |pmid=23028731 |pmc=3441634 |doi=10.1371/journal.pone.0044997 |url=}}</ref>
** Chromosome 3q gains (20-30%))<ref name="pmid20077527">{{cite journal |vauthors=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 |title=Splenic marginal zone lymphoma: characterization of 7q deletion and its value in diagnosis |journal=J. Pathol. |volume=220 |issue=4 |pages=461–74 |date=March 2010 |pmid=20077527 |doi=10.1002/path.2665 |url=}}</ref>
* Chromosome 3q gains (20-30%))<ref name="pmid20077527">{{cite journal |vauthors=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 |title=Splenic marginal zone lymphoma: characterization of 7q deletion and its value in diagnosis |journal=J. Pathol. |volume=220 |issue=4 |pages=461–74 |date=March 2010 |pmid=20077527 |doi=10.1002/path.2665 |url=}}</ref>
** [[NOTCH2]] and [[KLF2]] are the commonly reported gene mutations.<ref name="pmid24349473">{{cite journal |vauthors=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 |title=Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma |journal=PLoS ONE |volume=8 |issue=12 |pages=e83244 |date=2013 |pmid=24349473 |pmc=3862727 |doi=10.1371/journal.pone.0083244 |url=}}</ref><ref name="pmid22891273">{{cite journal |vauthors=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 |title=The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development |journal=J. Exp. Med. |volume=209 |issue=9 |pages=1537–51 |date=August 2012 |pmid=22891273 |pmc=3428941 |doi=10.1084/jem.20120904 |url=}}</ref><ref name="pmid25428260">{{cite journal |vauthors=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 |title=KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype |journal=Leukemia |volume=29 |issue=5 |pages=1177–85 |date=May 2015 |pmid=25428260 |doi=10.1038/leu.2014.330 |url=}}</ref>
* [[NOTCH2]] and [[KLF2]] are the commonly reported gene mutations.<ref name="pmid24349473">{{cite journal |vauthors=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 |title=Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma |journal=PLoS ONE |volume=8 |issue=12 |pages=e83244 |date=2013 |pmid=24349473 |pmc=3862727 |doi=10.1371/journal.pone.0083244 |url=}}</ref><ref name="pmid22891273">{{cite journal |vauthors=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 |title=The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development |journal=J. Exp. Med. |volume=209 |issue=9 |pages=1537–51 |date=August 2012 |pmid=22891273 |pmc=3428941 |doi=10.1084/jem.20120904 |url=}}</ref><ref name="pmid25428260">{{cite journal |vauthors=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 |title=KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype |journal=Leukemia |volume=29 |issue=5 |pages=1177–85 |date=May 2015 |pmid=25428260 |doi=10.1038/leu.2014.330 |url=}}</ref>


===Peripheral blood smear===
===Peripheral blood smear===

Latest revision as of 22:50, 5 January 2019


Diagnostic Study of choice

Histopathological examination of the spleen

  • To view the histopathological findings, click here

Histopathological examination of bone marrow biopsy

  • To view the histopathological findings of BMB. click here

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

  • B-cell lymphocytes show irregular cytoplasmic proesses at poles and plasmacytoid differentiation[12]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  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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