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 must be differentiated from other splenic B-cell lymphomas with the help of clinical, morphological, immunophenotypic and genetic data.^[2]^[3]^[4]^[5]^[6]^[7]^[8]^[9]^[10]^[11]


Differential Diagnosis	Cytogenetics	Morphology	Immunophenotype

Splenic marginal zone lymphoma	Deletion 7q, trisomy 3, trisomy 12, trisomy 18, Genes mutation NOTCH2, NFkB pathway genes (BIRC3, TNFAIP3, MAP3K14, IKBKB, MYD88 L265P)	Negative	CD20+, CD79a+IgM+ CD11c+, IgD+, DBA44+ in more than 50% of the cases CD5+, CD25+, CD103+, IgG+ in less than 50% of the cases
Splenic Diffuse red Pulp lymphoma	Uncommon: 7q deletion, trisomy 18, 17p deletion ( TP53)	Negative	CD11c+,CD20+, CD79a+ DBA44+ IgM+, IgD+, IgG+ in more than 50% of the cases CD5+, CD103+, CD123+ in less than 50% of the cases
Hairy cell leukemia variant	Common: Deletion 17p ( TP53), Uncommon: 5q gain, deletion 7q Gene mutation: MAP2K1	Positive	CD11c+, CD20+, CD79a+, CD103+, DBA44+ IgG+ in more than 50% of the cases IgD+, IgM+ in less than 50% of the cases
Hairy cell leukemia	Uncommon: 5q gain, 7q deletion gene mutation: BRAF V600E	Negative	CD11c+, CD20+, CD79a+, CD25+, CD103+, CD123+, Annexin A1+, IgM+, IgD+, IgG+ CD10+ in less than 50% of the cases
lymphoplasmacytic lymphoma	Common: 6q deletion, Uncommon: 13q deletion, 7q deletion Gene mutation: MYD88 L265P	Positive	CD11+,CD20+, CD79a+ IgM+ CD25+ in more than 50% of the cases CD5+ in less than 50% of the cases
Chronic lymphocytic leukemia	Positive	Negative	IgM+, IgD+, CD5+, CD23+, CD43+, CD79a+, LEF1+ CD20+, DBA44+ in less than 50%
Follicular lymphoma	t(14;18) translocation gene mutation: BCL2	Positive	IgM+, IgD+, CD20+, CD79a+, BCL6+ CD10+ in more than 50% CD23+ in less than 50%
Mantle cell lymphoma	t (11;14) translocation Gene mutation: CCND1	Negative	IgM+, IgD+, CD5+, CD20+, CD43+, CD79a+, BCL1+, SOX11+ BCL6+ and LEF1+ in less than 50% for the cases

References

↑ Splenic marginal zone lymphoma. Surveillance, Epidemiology, and End Results Program. http://seer.cancer.gov/seertools/hemelymph/51f6cf57e3e27c3994bd5327/. Accessed on January 14, 2016
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.

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[cancer.gov-1] Splenic marginal zone lymphoma. Surveillance, Epidemiology, and End Results Program. http://seer.cancer.gov/seertools/hemelymph/51f6cf57e3e27c3994bd5327/. Accessed on January 14, 2016

[pmid18094718-2] 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.

[pmid20479288-3] 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.

[pmid22891276-4] 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.

[pmid22891273-5] 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.

[pmid21663470-6] 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.

[pmid24241536-7] 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.

[pmid18042795-8] 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.

[pmid22301699-9] 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.

[pmid23611359-10] 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.

[pmid22210875-11] 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.

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Splenic marginal zone lymphoma differential diagnosis

Overview

Differential Diagnosis

References

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