Difference between revisions of "Splenic Diffuse Red Pulp Small B-cell Lymphoma"

From Compendium of Cancer Genome Aberrations
Jump to: navigation, search
 
(2 intermediate revisions by the same user not shown)
Line 1: Line 1:
{{Under Construction}}
 
 
==Primary Author(s)*==
 
==Primary Author(s)*==
  
Put your text here
+
Snehal Patel, MD, PhD
  
 
__TOC__
 
__TOC__
Line 8: Line 7:
 
==Cancer Category/Type==
 
==Cancer Category/Type==
  
Put your text here
+
*[[Mature B-Cell Neoplasms|Mature B-Cell Neoplasm]]
  
 
==Cancer Sub-Classification / Subtype==
 
==Cancer Sub-Classification / Subtype==
  
Put your text here
+
*[[Splenic B-cell Lymphoma/Leukemia, Unclassifiable]]
  
 
==Definition / Description of Disease==
 
==Definition / Description of Disease==
  
Put your text here
+
*Splenic diffuse red pulp small B-cell lymphoma (SDRPL) is an extremely rare indolent B-cell neoplasm of adults (provisional 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==
 
==Synonyms / Terminology==
  
Put your text here
+
*N/A
 +
 
 +
==Epidemiology / Prevalence<ref name=":0">{{Cite journal|last=T|first=Vig|last2=Ta|first2=Kodiatte|last3=Mt|first3=Manipadam|last4=Fn|first4=Aboobacker|date=2018|title=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|url=https://pubmed.ncbi.nlm.nih.gov/29662866/|language=en|doi=10.5045/br.2018.53.1.74|pmc=PMC5898999|pmid=29662866}}</ref><ref name=":1">{{Cite journal|last=J|first=Tóth-Lipták|last2=K|first2=Piukovics|last3=Z|first3=Borbényi|last4=J|first4=Demeter|last5=E|first5=Bagdi|last6=L|first6=Krenács|date=2015|title=A Comprehensive Immunophenotypic Marker Analysis of Hairy Cell Leukemia in Paraffin-Embedded Bone Marrow Trephine Biopsies--A Tissue Microarray Study|url=https://pubmed.ncbi.nlm.nih.gov/24903677/|language=en|pmid=24903677}}</ref><ref name=":3">{{Cite journal|last=L|first=Jallades|last2=L|first2=Baseggio|last3=P|first3=Sujobert|last4=S|first4=Huet|last5=K|first5=Chabane|last6=E|first6=Callet-Bauchu|last7=A|first7=Verney|last8=S|first8=Hayette|last9=Jp|first9=Desvignes|date=2017|title=Exome Sequencing Identifies Recurrent BCOR Alterations and the Absence of KLF2, TNFAIP3 and MYD88 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/28751561/|language=en|doi=10.3324/haematol.2016.160192|pmc=PMC5622860|pmid=28751561}}</ref>==
 +
 
 +
*<1% of all non-Hodgkin lymphomas
 +
*Median age ~ 66 to 80 years
 +
*M:F 1.8:1 to  2.4:1
  
==Epidemiology / Prevalence==
+
==Clinical Features<ref name=":0" /><ref name=":2">{{Cite journal|last=Wy|first=Cheng|last2=Ym|first2=Zhu|last3=S|first3=Cheng|last4=Ys|first4=Chen|last5=Y|first5=Shen|date=2018|title=Development of B-cell Prolymphocytic Leukemia in a Patient With Splenic Diffuse Red Pulp Small B-cell Lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/29199492/|language=en|pmid=29199492}}</ref>==
  
Put your text here
+
'''Signs & Symptoms'''
  
==Clinical Features==
+
*Splenic enlargement and/or discomfort
 +
*Fatigue
 +
*B-symptoms - weight loss, fever, night sweats (variable)
 +
*Lymphadenopathy (uncommon)
  
Put your text here
+
'''Laboratory findings'''
  
==Sites of Involvement==
+
*Cytopenias (uncommon)
 +
*Lymphocytosis (moderate)
 +
*No monocytopenia
  
Put your text here
+
==Sites of Involvement<ref name=":0" />==
  
==Morphologic Features==
+
*Spleen (red pulp)
 +
*Bone marrow (sinusoidal > interstitial)
 +
*Blood
 +
*Liver
 +
*Lymph node (uncommon)
  
Put your text here
+
==Morphologic Features<ref name=":0" />==
  
==Immunophenotype==
+
*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
  
Put your text here and/or fill in the table
+
==Immunophenotype<ref name=":0" /><ref name=":1" /><ref name=":2" /><ref>{{Cite journal|last=Y|first=Yamada|last2=M|first2=Miura|last3=M|first3=Tagari|last4=K|first4=Oshimi|last5=T|first5=Shiragata|last6=W|first6=Suga|last7=T|first7=Takahashi|last8=K|first8=Shimizu|last9=K|first9=Ohshima|date=2018|title=[Splenic Diffuse Red Pulp Small B-cell Lymphoma Diagnosed by Splenectomy Initially Mimicking Hairy Cell leukemia-Japanese Variant]|url=https://pubmed.ncbi.nlm.nih.gov/29618685/|language=en|pmid=29618685}}</ref>==
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
Line 46: Line 70:
 
!Finding!!Marker
 
!Finding!!Marker
 
|-
 
|-
|Positive (universal)||EXAMPLE CD1
+
|Positive (B-cell lineage markers)||CD19, CD20, CD22, CD79a, CD79b, PAX5, FMC7, sIg (monotypic), IgG
 
|-
 
|-
|Positive (subset)||EXAMPLE CD2
+
|Positive||DBA-44, CD11c*
 
|-
 
|-
|Negative (universal)||EXAMPLE CD3
+
|Negative||CD5, CD10, CD23, BCL1, BCL6
 
|-
 
|-
|Negative (subset)||EXAMPLE CD4
+
|Negative (HCL markers)||CD25, CD43, CD103 (variable), CD123, CD138, CD200, annexin A1, TRAP
 +
|-
 +
|MIB-1 proliferative index
 +
|2-4%
 
|}
 
|}
 +
<nowiki>*</nowiki>Reports of CD11c expression are conflicting in the literature.
  
 
==Chromosomal Rearrangements (Gene Fusions)==
 
==Chromosomal Rearrangements (Gene Fusions)==
  
Put your text here and/or fill in the table
+
* No consistent gene fusion
  
{| class="wikitable sortable"
 
|-
 
!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
 
|-
 
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 5%
 
|-
 
|EXAMPLE t(8;21)(q22;q22)||EXAMPLE 5'RUNX1 / 3'RUNXT1||EXAMPLE der(8)||EXAMPLE 5%
 
|}
 
 
 
==Characteristic Chromosomal Aberrations / Patterns==
 
==Characteristic Chromosomal Aberrations / Patterns==
  
 
Put your text here
 
Put your text here
  
==Genomic Gain/Loss/LOH==
+
==Genomic Gain/Loss/LOH<ref name=":0" />==
  
 
Put your text here and/or fill in the table
 
Put your text here and/or fill in the table
Line 80: Line 99:
 
!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
 
!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
 
|-
 
|-
|EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000
+
|7q||Loss||EXAMPLE chr8:0-1000000
 
|-
 
|-
|EXAMPLE 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000
+
|17p||Loss||EXAMPLE chr7:0-1000000
 +
|-
 +
|18
 +
|Gain
 +
|
 
|}
 
|}
 
 
 
==Gene Mutations (SNV/INDEL)==
 
==Gene Mutations (SNV/INDEL)==
 
Put your text here and/or fill in the tables
 
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
Line 93: Line 114:
 
!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
 
!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
 
|-
 
|-
|EXAMPLE TP53||EXAMPLE R273H||EXAMPLE Tumor Suppressor||EXAMPLE LOF||EXAMPLE 20%
+
|BCOR||EXAMPLE R273H||EXAMPLE Tumor Suppressor||EXAMPLE LOF||EXAMPLE 20%
 
|}
 
|}
 
 
===Other Mutations===
+
==Epigenomics (Methylation)==
{| class="wikitable sortable"
+
 
|-
+
==Genes and Main Pathways Involved==
!Type!!Gene/Region/Other
+
{| class="wikitable"
 +
!Molecular feature
 +
!Pathway
 +
!Physiologic outcome
 
|-
 
|-
|Concomitant Mutations||EXAMPLE IDH1 R123H
+
|
 +
|
 +
|
 
|-
 
|-
|Secondary Mutations||EXAMPLE Trisomy 7
+
|
 +
|
 +
|
 
|-
 
|-
|Mutually Exclusive||EXAMPLE EGFR Amplification
+
|
 +
|
 +
|
 
|}
 
|}
 
==Epigenomics (Methylation)==
 
 
Put your text here
 
 
==Genes and Main Pathways Involved==
 
 
Put your text here
 
  
 
==Diagnostic Testing Methods==
 
==Diagnostic Testing Methods==
  
Put your text here
+
*SDRPL is a provisional entity and definitive diagnostic criteria have not been determined
 +
*No pathognomonic diagnostic markers (molecular or otherwise)
 +
**Diagnosis of exclusion
 +
**Differential of splenic lymphomas with cytoplasmic projections:  [[Hairy Cell Leukemia|HCL]], [[Hairy Cell Leukemia Variant|HCL-v]], [[Splenic Marginal Zone Lymphoma|SMZL]]
 +
**Distinction is by clinical history, morphology, and immunohistochemistry
 +
**Mutations seen in other entities in DDx are absent/rare in SDRPL<ref name=":3" /> and may be diagnostically useful (see Clinical Significance below)
 +
***Next-generation sequencing with targeted lymphoid malignancy panels or exome sequencing may be considered
  
 
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
 
==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
 
+
{| class="wikitable"
Put your text here
+
!Alteration
 +
!Significance
 +
!Note
 +
|-
 +
|BRAF p.Val600Glu
 +
|Possible role in diagnosis (exclusion)
 +
|Prevalent in [[Hairy Cell Leukemia|HCL]] but rare/absent in SDRPL<ref name=":3" />
 +
|-
 +
|MAP2K1
 +
|Possible role in diagnosis (exclusion)
 +
|Prevalent in [[Hairy Cell Leukemia Variant|HCL-v]] and a subset of cases classified as [[Hairy Cell Leukemia|HCL]] but rare/absent in SDRPL<ref name=":3" />
 +
|-
 +
|KLF2 and TNFAIP3
 +
|Possible role in diagnosis (exclusion)
 +
|Prevalent in [[Splenic Marginal Zone Lymphoma|SMZL]] but rare/absent in SDRPL<ref name=":3" />
 +
|-
 +
|MYD88
 +
|Possible role in diagnosis (exclusion)
 +
|Prevalent in [[Lymphoplasmacytic Lymphoma|LPL]] and [[Splenic Marginal Zone Lymphoma|SMZL]] but rare/absent in SDRPL<ref name=":3" />
 +
|-
 +
|BCOR
 +
|Possible role in diagnosis (inclusion)
 +
|Prevalent in SDRPL but rare/absent in other lymphomas in DDx
 +
|}
  
 
==Familial Forms==
 
==Familial Forms==
  
Put your text here
+
*Not described
  
 
==Other Information==
 
==Other Information==
  
Put your text here
+
*None
  
 
==Links==
 
==Links==
  
Put your links here (use "Link" icon at top of page)
+
*[[Hairy Cell Leukemia]]
 +
*[[Hairy Cell Leukemia Variant]]
 +
*[[Splenic B-cell Lymphoma/Leukemia, Unclassifiable]]
 +
*[[Splenic Marginal Zone Lymphoma]]
  
 
==References==
 
==References==

Latest revision as of 22:18, 28 June 2020

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 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

  • N/A

Epidemiology / Prevalence[1][2][3]

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

Clinical Features[1][4]

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

Sites of Involvement[1]

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

Morphologic Features[1]

  • 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

Immunophenotype[1][2][4][5]

Finding Marker
Positive (B-cell lineage markers) CD19, CD20, CD22, CD79a, CD79b, PAX5, FMC7, sIg (monotypic), IgG
Positive DBA-44, 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.

Chromosomal Rearrangements (Gene Fusions)

  • No consistent gene fusion

Characteristic Chromosomal Aberrations / Patterns

Put your text here

Genomic Gain/Loss/LOH[1]

Put your text here and/or fill in the table

Chromosome Number Gain/Loss/Amp/LOH Region
7q Loss EXAMPLE chr8:0-1000000
17p Loss EXAMPLE chr7:0-1000000
18 Gain

Gene Mutations (SNV/INDEL)

Gene Mutation Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other)
BCOR EXAMPLE R273H EXAMPLE Tumor Suppressor EXAMPLE LOF EXAMPLE 20%

Epigenomics (Methylation)

Genes and Main Pathways Involved

Molecular feature Pathway Physiologic outcome

Diagnostic Testing Methods

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

Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)

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 rare/absent 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 other lymphomas in DDx

Familial Forms

  • Not described

Other Information

  • None

Links

References

(use "Cite" icon at top of page)

  1. 1.0 1.1 1.2 1.3 1.4 1.5 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. 3.0 3.1 3.2 3.3 3.4 3.5 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.

EXAMPLE Book

  1. Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.

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.