Difference between revisions of "HAEM5:Splenic diffuse red pulp small B-cell lymphoma"

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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-12-04. The original page can be found at [[HAEM4:Splenic Diffuse Red Pulp Small B-cell Lymphoma]].
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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Splenic Diffuse Red Pulp Small B-cell Lymphoma]].
 
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==Primary Author(s)*==
 
==Primary Author(s)*==

Revision as of 16:22, 7 December 2023

Haematolymphoid Tumours (5th ed.)

editHAEM5 Conversion Notes
This page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:Splenic Diffuse Red Pulp Small B-cell Lymphoma.

Primary Author(s)*

  • Snehal Patel, MD, PhD

Cancer Category / Type

Cancer Sub-Classification / Subtype

Definition / Description of Disease

  • Splenic diffuse red pulp small B-cell lymphoma (SDRPL) is an extremely rare indolent B-cell neoplasm of adults (provisional WHO entity)
  • Name derives from diffuse involvement of the splenic red pulp by small mature-appearing B-cells
  • Marked splenomegaly and marrow infiltration result in left flank discomfort, fatigue, and susceptibility to infections

Synonyms / Terminology

  • Splenic marginal zone lymphoma, diffuse variant
  • Splenic red pulp lymphoma with numerous basophilic villous lymphocytes
  • Splenic lymphoma with villous lymphocytes

Epidemiology / Prevalence

  • <1% of all non-Hodgkin lymphomas
  • Median age ~ 66 to 80 years
  • M:F 1.8:1 to 2.4:1


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[1][2][3]

Clinical Features

Put your text here and fill in the table (Instruction: Can include references in the table)

Signs and Symptoms EXAMPLE Asymptomatic (incidental finding on complete blood counts)

EXAMPLE B-symptoms (weight loss, fever, night sweats)

EXAMPLE Fatigue

EXAMPLE Lymphadenopathy (uncommon)

Laboratory Findings EXAMPLE Cytopenias

EXAMPLE Lymphocytosis (low level)


editv4:Clinical Features
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Signs & Symptoms

  • Splenic enlargement and/or discomfort
  • Fatigue
  • B-symptoms - weight loss, fever, night sweats (variable)
  • Lymphadenopathy (uncommon)

Laboratory findings

  • Cytopenias (uncommon)
  • Lymphocytosis (moderate)
  • No monocytopenia


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[1][4]

Sites of Involvement

  • Spleen (red pulp)
  • Bone marrow (sinusoidal > interstitial)
  • Blood
  • Liver
  • Lymph node (uncommon)


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[1]

Morphologic Features

  • Monomorphic small lymphocytes
  • Villous projections
  • Scant cytoplasm
  • Condensed chromatin
  • Smooth nuclear contours
  • Inconspicuous nucleoli
  • Involvement of red pulp (cords & sinusoids)
  • Residual white pulp
  • No/minimal reticulin fibrosis


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[1]

Immunophenotype

Finding Marker
Positive (B-cell lineage markers) CD19, CD20 (bright), CD22, CD79a, CD79b, PAX5, FMC7, sIg (monotypic), IgG
Positive DBA-44, BCL2 (weak), CD11c*
Negative CD5, CD10, CD23, BCL1, BCL6
Negative (HCL markers) CD25, CD43, CD103 (variable), CD123, CD138, CD200, annexin A1, TRAP
MIB-1 proliferative index 2-4%

*Reports of CD11c expression are conflicting in the literature.


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[1][2][4][5][6]

Chromosomal Rearrangements (Gene Fusions)

Put your text here and fill in the table

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 20% (COSMIC)

EXAMPLE 30% (add reference)

Yes No Yes EXAMPLE

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).


editv4:Chromosomal Rearrangements (Gene Fusions)
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  • No consistent gene fusion


editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).
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  • Chromosomal Rearrangements (Gene Fusions)
  • Individual Region Genomic Gain/Loss/LOH
  • Characteristic Chromosomal Patterns
  • Gene Mutations (SNV/INDEL)
Alteration Significance Note
BRAF p.Val600Glu Possible role in diagnosis (exclusion) Prevalent in HCL but rare/absent in SDRPL[3]
MAP2K1 Possible role in diagnosis (exclusion) Prevalent in HCL-v and a subset of cases classified as HCL but uncommon in SDRPL[3]
KLF2 and TNFAIP3 Possible role in diagnosis (exclusion) Prevalent in SMZL but rare/absent in SDRPL[3]
MYD88 Possible role in diagnosis (exclusion) Prevalent in LPL and SMZL but rare/absent in SDRPL[3]
BCOR Possible role in diagnosis (inclusion) Prevalent in SDRPL but rare/absent in HCL, HCL-v, and SMZL[3]

Individual Region Genomic Gain / Loss / LOH

Put your text here and fill in the table (Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.)

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE

7

EXAMPLE Loss EXAMPLE

chr7:1- 159,335,973 [hg38]

EXAMPLE

chr7

Yes Yes No EXAMPLE

Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).

EXAMPLE

8

EXAMPLE Gain EXAMPLE

chr8:1-145,138,636 [hg38]

EXAMPLE

chr8

No No No EXAMPLE

Common recurrent secondary finding for t(8;21) (add reference).

editv4:Genomic Gain/Loss/LOH
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  • In a study of 13 cases, 10q23, 14q31-q32, and 17p13 deletions in 3 cases; 9p21 deletions in 2 cases; 7q31.3-q32.3 deletion in 1 case; no trisomies 3 or 18[7]
  • In a study of 24 cases, 7q deletion in 6 cases; trisomy 3 and 18 in 1 case; trisomy 12 in 3 case[3]

Characteristic Chromosomal Patterns

Put your text here (EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis)

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE

Co-deletion of 1p and 18q

Yes No No EXAMPLE:

See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).

editv4:Characteristic Chromosomal Aberrations / Patterns
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  • BCOR copy number loss in 10% and often with BCOR point mutations[3]
  • Copy number alterations in 69%[7]
  • Complex karyotypes in 13%[3]

Gene Mutations (SNV / INDEL)

Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.)

Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: TP53; Variable LOF mutations

EXAMPLE:

EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations

EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).


Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


editv4:Gene Mutations (SNV/INDEL)
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Gene* Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence[3]
CCND3 Oncogene GOF 21%
BCOR Tumor Suppressor LOF 14%

Specific mutations in these genes can be found in cBioPortal, COSMIC, and elsewhere[3]

Epigenomic Alterations

  • Not studied

Genes and Main Pathways Involved

Put your text here and fill in the table (Instructions: Can include references in the table.)

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations EXAMPLE: MAPK signaling EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE:  KMT2C and ARID1A; Inactivating mutations EXAMPLE:  Histone modification, chromatin remodeling EXAMPLE:  Abnormal gene expression program
editv4:Genes and Main Pathways Involved
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Molecular feature Pathway
BCOR LoF alterations (point mutations & copy number loss; 24% of SDRPL) germinal center formation & apoptosis
CCND3 GoF alterations (point mutations; 21% of SDRPL) cell cycle regulation

Genetic Diagnostic Testing Methods

  • SDRPL is a provisional WHO entity and definitive diagnostic criteria have not been determined
    • Diagnosis of exclusion
      • Differential of splenic lymphomas with cytoplasmic projections: HCL, HCL-v, SMZL
    • Distinction is by clinical history, morphology, and immunohistochemistry
      • No pathognomonic diagnostic markers (molecular or otherwise)
      • Mutations seen in other entities in DDx are absent/rare in SDRPL and vice versa[3] and may be diagnostically useful (see Clinical Significance below)
        • Next-generation sequencing with targeted lymphoid malignancy panels or exome sequencing may be considered in challenging cases

Familial Forms

  • Not described

Additional Information

  • None

Links

References

(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference.)

  1. 1.0 1.1 1.2 1.3 1.4 T, Vig; et al. (2018). "A Rare Case of Splenic Diffuse Red Pulp Small B-cell Lymphoma (SDRPL): A Review of the Literature on Primary Splenic Lymphoma With Hairy Cells". doi:10.5045/br.2018.53.1.74. PMC 5898999. PMID 29662866.CS1 maint: PMC format (link)
  2. 2.0 2.1 J, Tóth-Lipták; et al. (2015). "A Comprehensive Immunophenotypic Marker Analysis of Hairy Cell Leukemia in Paraffin-Embedded Bone Marrow Trephine Biopsies--A Tissue Microarray Study". PMID 24903677.
  3. 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 L, Jallades; et al. (2017). "Exome Sequencing Identifies Recurrent BCOR Alterations and the Absence of KLF2, TNFAIP3 and MYD88 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma". doi:10.3324/haematol.2016.160192. PMC 5622860. PMID 28751561.CS1 maint: PMC format (link)
  4. 4.0 4.1 Wy, Cheng; et al. (2018). "Development of B-cell Prolymphocytic Leukemia in a Patient With Splenic Diffuse Red Pulp Small B-cell Lymphoma". PMID 29199492.
  5. Y, Yamada; et al. (2018). "[Splenic Diffuse Red Pulp Small B-cell Lymphoma Diagnosed by Splenectomy Initially Mimicking Hairy Cell leukemia-Japanese Variant]". PMID 29618685.
  6. G, Kanellis; et al. (2010). "Splenic diffuse red pulp small B-cell lymphoma: revision of a series of cases reveals characteristic clinico-pathological features". doi:10.3324/haematol.2009.013714. PMC 2895036. PMID 20220064.CS1 maint: PMC format (link)
  7. 7.0 7.1 D, Martinez; et al. (2016). "NOTCH1, TP53, and MAP2K1 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma Are Associated With Progressive Disease". PMID 26426381.

Notes

*Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome. *Citation of this Page: “Splenic diffuse red pulp small B-cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 12/7/2023, https://ccga.io/index.php/HAEM5:Splenic_diffuse_red_pulp_small_B-cell_lymphoma.