Waldenström's macroglobulinemia diagnostic study of choice: Difference between revisions

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*There is no single diagnostic study of choice for the diagnosis of Waldenström macroglobulinemia, but WM can be diagnosed based on a bone marrow biopsy and an analysis of serum protein components.
__NOTOC__
{{Waldenström's macroglobulinemia}}
{{CMG}}; {{AE}} {{S.M.}}, {{shyam}}, {{RAK}}; {{GRR}} {{Nat}}
 
== Overview ==
The [[diagnosis]] of [[Waldenström's macroglobulinemia|Waldenstrom's macroglobulinemia]] is [[Based on Symptoms|based]] on [[bone marrow aspiration]] and [[biopsy]] and [[serum]] [[protein]] [[analysis]] [[Study design|studies]] such as [[Immunohistochemistry|immunohistochemistry,]] [[flow cytometry]] and [[cytogenetics]] to [[Differentiate|distinguish]] WM from other types of [[B-cell]] [[lymphomas]]. [[CSF]] [[flow cytometry]], [[protein electrophoresis]] and [[immunofixation]] is [[done]] for the [[diagnosis]] of [[Bing-Neel syndrome]] (a late, but severe, [[rare]] [[Complication (medicine)|complication]]).
 
== Diagnostic Study of Choice ==
*There is no single [[diagnostic study of choice]] for the [[diagnosis]] of [[Waldenström's macroglobulinemia|Waldenstrom's macroglobulinemia]] ([[Waldenström's macroglobulinemia|WM]]), but '''[[bone marrow aspiration]] and [[biopsy]]''' is considered to be [[Mandatory labelling|mandatory]] for the [[Assessment and Plan|assessment]] of [[patients]] with [[Waldenström's macroglobulinemia|WM]] and further [[Support|supported]] by [[monoclonal]] [[protein]]/[[Immunophenotyping|immunophenotypic studies]] such as [[immunohistochemistry]], [[flow cytometry]] and [[cytogenetics]] to distinguish [[Waldenström's macroglobulinemia|WM]] from other types of [[B-cell]] [[lymphomas]].<ref name="pmid15735132">{{cite journal| author=Dimopoulos MA, Kyle RA, Anagnostopoulos A, Treon SP| title=Diagnosis and management of Waldenstrom's macroglobulinemia. | journal=J Clin Oncol | year= 2005 | volume= 23 | issue= 7 | pages= 1564-77 | pmid=15735132 | doi=10.1200/JCO.2005.03.144 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15735132  }} </ref><ref name="pmid26980727">{{cite journal| author=Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R et al.| title=The 2016 revision of the World Health Organization classification of lymphoid neoplasms. | journal=Blood | year= 2016 | volume= 127 | issue= 20 | pages= 2375-90 | pmid=26980727 | doi=10.1182/blood-2016-01-643569 | pmc=4874220 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26980727  }} </ref>
*Not all the [[diagnostic]] [[Test|tests]] mentioned are [[Performance status|performed]] in a [[patient]] with [[Waldenström's macroglobulinemia|Waldenstrom's macroglobulinemia]]. A [[Doctor of Medicine|doctor]] takes into account the following factors before choosing [[diagnostic]] [[Test|tests]] in a particular [[patient]]:
** Suspected type of [[cancer]]
** [[Signs and Symptoms|Signs]] and [[symptoms]]
** [[Age]]
** [[Medical condition]] of the [[patient]]
** [[Result|Results]] of earlier [[medical]] [[Test|tests]]
 
===Diagnostic Criteria:===
====Diagnostic criteria presented in second International Workshop, Greece, 2002====
 
In September 26-30, 2002, in Athens, Greece,the '''Second International Workshop''' was held in which a '''[[diagnostic criteria]]''' for [[Waldenström's macroglobulinemia|Waldenstrom's Macroglobulinemia]] was [[Proposition|proposed]]. According to this [[criteria]], the following findings on [[Performance status|performing]] [[Bone marrow examination|bone marrow biopsy]] and '''[[Serum protein electrophoresis|serum protein analysis]]''' are [[Confirmatory factor analysis|confirmatory]] of [[Waldenström macroglobulinemia]] and [[Exclusion criteria|exclude]] other small [[B cell]] [[lymphoid]] [[neoplasms]] with plasmacytic [[differentiation]]:<ref name="pmid15735132" />
 
{| class="wikitable"
|+
! colspan="3" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Diagnostic criteria presented in second International Workshop, Greece, 2002}}
|-
| colspan="2" |'''1:'''[[Presenting symptom|Presence]] of [[Immunoglobulin M|IgM]] [[monoclonal gammopathy]] of any [[concentration]] on [[Serum protein electrophoresis|serum protein analysis]]
|'''[[Necessary and sufficient|Necessary]]''' [[criteria]]
|-
| rowspan="3" |'''2:'''A [[bone marrow]] [[biopsy]] demonstrating more than 10% [[Infiltration (medical)|infiltration]] by small [[lymphocytes]], [[plasmacytoid]] [[lymphocytes]], and [[plasma cells]], (with [[variable]] [[Number|numbers]] of admixed [[Immunoblast|immunoblasts]]), with an intertrabecular [[pattern]] consistent with [[lymphoplasmacytic lymphoma]]
|[[Proliferation]] centers ([[pathognomonic]] of [[CLL]]/[[SLL]]) and [[Paleness|paler]]-[[Appearance|appearing]] [[marginal zone]] type [[differentiation]] (seen in [[marginal zone lymphoma]]) are absent
| rowspan="3" |'''[[Necessary and sufficient|Necessary]]''' [[criteria]]
|-
|[[IgM]] [[concentration]] [[Wide and fast|widely]] [[Variable|varies]] in [[Waldenström's macroglobulinemia|WM]], and it is not [[Possibility theory|possible]] to define a [[concentration]] that reliably distinguishes [[Waldenström's macroglobulinemia|WM]] from other [[lymphoproliferative disorders]]. Hence, a [[diagnosis]] of [[Waldenström's macroglobulinemia|WM]] can be made irrespective of [[IgM]] [[concentration]] if there is an [[evidence]] of [[bone marrow]] [[Infiltration (medical)|infiltration]] by lymphoplasmacytoid [[lymphoma]] as defined by the Revised European-American [[Lymphoma]] [[classification]] and [[WHO]] [[criteria]]. This is a [[tumor]] of small [[lymphocytes]] showing [[evidence]] of [[plasmacytoid]] or [[plasma cell]] [[differentiation]].
|-
|A [[Recent changes|recent]] [[Study design|study]] found that, in 39% of [[patients]], the [[bone marrow]] [[aspirate]] contained a [[spectrum]] of small [[lymphocytes]], [[plasmacytoid]] [[lymphocytes]], and [[plasma cells]]; in 39% of [[patients]], there was a [[Predominance diagram|predominance]] of small [[lymphocytes]] with [[Fewmets|fewer]] [[plasmacytoid]] [[lymphocytes]] or [[plasma cells]], and 22% of the [[patients]] contained a [[mixture]] of small [[lymphocytes]] and [[plasma cells]], with [[rare]] [[plasmacytoid]] [[Cells (biology)|cells]]. [[Mast cells]] were increased in 26% of [[patients]].
|-
| colspan="2" |'''3:'''Intertrabecular [[pattern]] of [[bone marrow]] [[Infiltration (medical)|infiltration]]
|'''[[Support|Supportive]]''' [[criteria]]
|-
| colspan="2" |'''4:'''[[Immunophenotype]] of the [[Lymphoplasmacytic lymphoma|lymphoplasmacytic]] [[Infiltration (medical)|infiltrate]] consistent with [[Waldenström's macroglobulinemia|Waldenstrom's macroglobulinemia]]. This includes: [[IgM]]+, [[CD5]]-, [[CD10]]-, [[CD11c]]-, [[CD19]]+, [[CD20]]+, [[CD22]]+, [[CD23]]-, [[CD25]]+, [[CD27]]+, [[FMC7]]+, [[CD103]]- and [[CD138]]+
|'''[[Support|Supportive]]''' [[criteria]]
|}
====mSMART guidelines for diagnosis of Waldenstrom macroglobulinemia and associated disorders====
[[Mayo Clinic|Mayo]] [[Stratification]] of [[Macroglobulinemia]] and [[RiskMetrics|Risk]]-[[Adapted process|Adapted]] [[Therapy]] (mSMART) [[Medical guideline|Guidelines]] 2016 for [[diagnosis]] of [[Waldenstrom macroglobulinemia]] and [[Association (statistics)|associated]] [[disorders]] are as follows:<ref name="AnsellKyle2010">{{cite journal|last1=Ansell|first1=Stephen M.|last2=Kyle|first2=Robert A.|last3=Reeder|first3=Craig B.|last4=Fonseca|first4=Rafael|last5=Mikhael|first5=Joseph R.|last6=Morice|first6=William G.|last7=Bergsagel|first7=P. Leif|last8=Buadi|first8=Francis K.|last9=Colgan|first9=Joseph P.|last10=Dingli|first10=David|last11=Dispenzieri|first11=Angela|last12=Greipp|first12=Philip R.|last13=Habermann|first13=Thomas M.|last14=Hayman|first14=Suzanne R.|last15=Inwards|first15=David J.|last16=Johnston|first16=Patrick B.|last17=Kumar|first17=Shaji K.|last18=Lacy|first18=Martha Q.|last19=Lust|first19=John A.|last20=Markovic|first20=Svetomir N.|last21=Micallef|first21=Ivana N.M.|last22=Nowakowski|first22=Grzegorz S.|last23=Porrata|first23=Luis F.|last24=Roy|first24=Vivek|last25=Russell|first25=Stephen J.|last26=Short|first26=Kristen E. Detweiler|last27=Stewart|first27=A. Keith|last28=Thompson|first28=Carrie A.|last29=Witzig|first29=Thomas E.|last30=Zeldenrust|first30=Steven R.|last31=Dalton|first31=Robert J.|last32=Rajkumar|first32=S. Vincent|last33=Gertz|first33=Morie A.|title=Diagnosis and Management of Waldenström Macroglobulinemia: Mayo Stratification of Macroglobulinemia and Risk-Adapted Therapy (mSMART) Guidelines|journal=Mayo Clinic Proceedings|volume=85|issue=9|year=2010|pages=824–833|issn=00256196|doi=10.4065/mcp.2010.0304}}</ref>
{| class="wikitable"
|+
! colspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|mSMART guidelines 2016 for diagnosis of Waldenstrom macroglobulinemia and associated disorders}}
|-
|style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[Waldenström macroglobulinemia]]
|[[IgM]] [[monoclonal gammopathy]] (regardless of the [[Size consistency|size]] of the [[M protein]]) with >10% [[bone marrow]] lymphoplasmacytic [[Infiltration (medical)|infiltration]] (usually intertrabecular) by small [[lymphocytes]] that exhibit plasmacytoid or [[plasma cell]] [[differentiation]] and a [[Typical set|typical]] [[immunophenotype]] ([[Surface chemistry|surface]] [[IgM]]+, [[CD5]]–, [[CD10]]–, [[CD19]]+, [[CD20]]+, [[CD23]]–) that satisfactorily [[Exclusion criteria|excludes]] other [[lymphoproliferative disorders]], including [[chronic lymphocytic leukemia]] and [[mantle cell lymphoma]]
|-
|style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[IgM]] [[MGUS]]
|[[Serum]] [[IgM monoclonal protein]] level <3 g/dL, [[bone marrow]] lymphoplasmacytic [[Infiltration (medical)|infiltration]] <10%, and no [[evidence]] of [[anemia]], constitutional [[symptoms]], [[hyperviscosity]], [[lymphadenopathy]], or [[hepatosplenomegaly]]
|-
|style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Smoldering [[Waldenström macroglobulinemia]] (indolent /[[asymptomatic]] [[Waldenström macroglobulinemia]])
|[[Serum]] [[IgM monoclonal protein]] level ≥3 g/dL and/or [[bone marrow]] lymphoplasmacytic [[Infiltration (medical)|infiltration]] ≥10% and no [[evidence]] of [[End organ damage|end-organ damage]], such as [[anemia]], constitutional [[symptoms]], [[hyperviscosity]], [[lymphadenopathy]], or [[hepatosplenomegaly]], that can be [[Attribution (psychology)|attributed]] to a lymphoplasmacytic [[Proliferation|proliferative]] [[Disorder (medicine)|disorder]]
|}
 
====Definitive Diagnostic Tests====
*[[Genetic]] [[Testing]]:
**ARIDA
**[[Immunoglobulin|IG]] [[gene]] [[rearrangement]]
**[[CXCR4]] 5338X
**[[MYD88]] L265P
*[[Immunophenotyping]]
*[[Serum]] [[paraprotein]]
 
===Bone Marrow Aspirate:===
* A [[Bone marrow aspiration|bone marrow aspirate]] is [[Essential medicines|essential]] in the [[diagnosis]] of [[Waldenström's macroglobulinemia|Waldenstrom's macroglobulinemia]]
* Findings [[Suggestion|suggestive]] of [[Waldenström's macroglobulinemia|Waldenstrom's macroglobulinemia]] include:<ref name="pmid18555588">{{cite journal| author=Leleu X, Roccaro AM, Moreau AS, Dupire S, Robu D, Gay J et al.| title=Waldenstrom macroglobulinemia. | journal=Cancer Lett | year= 2008 | volume= 270 | issue= 1 | pages= 95-107 | pmid=18555588 | doi=10.1016/j.canlet.2008.04.040 | pmc=3133633 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18555588  }} </ref>
** Hypercellular [[bone marrow]] [[aspirate]]
** Lymphoplasmacytic [[Infiltration (medical)|infiltrate]] with [[Characteristic function (probability theory)|characteristic]] [[immunophenotype]]
 
{|
|
[[File:Wm bm aspirate.png|thumb|250px|none| Bone marrow aspirate. Lymphocytes with lymphoplasmacytoid appearance (arrows).[https://openi.nlm.nih.gov/detailedresult.php?img=PMC3894394_br-48-300-g001&query=waldenstrom+macroglobulinaemia&it=xg&req=4&npos=91 Source: D'Angelo G. et al, Laboratorio di Chimica-Clinica, Ematologia e Microbiologia (Ematologia/Coagulazione), Azienda Ospedaliera "S. Antonio Abate" di Gallarate, Varese, Italy.]]]
|}
 
=== Bone Marrow Biopsy: ===
*A [[bone marrow biopsy]] may be [[Help desk|helpful]] in the [[diagnosis]] of [[Waldenström's macroglobulinemia|Waldenstrom's macroglobulinemia]] <ref name="pmid18555588">{{cite journal| author=Leleu X, Roccaro AM, Moreau AS, Dupire S, Robu D, Gay J et al.| title=Waldenstrom macroglobulinemia. | journal=Cancer Lett | year= 2008 | volume= 270 | issue= 1 | pages= 95-107 | pmid=18555588 | doi=10.1016/j.canlet.2008.04.040 | pmc=3133633 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18555588  }} </ref>
*Findings on the [[biopsy]] [[Suggestion|suggestive]] of [[lymphoplasmacytic lymphoma|Waldenstrom's macroglobulinemia]] include:<ref name="pmid18555588">{{cite journal| author=Leleu X, Roccaro AM, Moreau AS, Dupire S, Robu D, Gay J et al.| title=Waldenstrom macroglobulinemia. | journal=Cancer Lett | year= 2008 | volume= 270 | issue= 1 | pages= 95-107 | pmid=18555588 | doi=10.1016/j.canlet.2008.04.040 | pmc=3133633 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18555588  }} </ref>
**Hypercellular and [[Infiltration (medical)|infiltrated]] with [[lymphoid]] and [[Plasmacytoid|plasmacytoid cells]]
**Dutcher [[Body|bodies]] ([[PAS stain|PAS]] positive intra-nuclear [[vacuoles]] containing [[IgM]] [[monoclonal]] [[protein]])
***[[Characteristic function (probability theory)|Characteristic]] [[Features (pattern recognition)|feature]] of [[lymphoplasmacytic lymphoma|Waldenstrom's macroglobulinemia]]
*Three [[Pattern|patterns]] of [[Bone marrow|marrow]] involvement are described, as follows:
**Lymphoplasmacytoid [[Cells (biology)|cells]] (lymphoplasmacytic and small [[lymphocytes]]) in a [[nodular]] [[pattern]]
**Lymphoplasmacytic [[Cells (biology)|cells]] (small [[lymphocytes]], mature [[plasma cells]], [[mast cells]]) in an [[interstitial]]/[[nodular]] [[pattern]]
**A polymorphous [[Infiltration (medical)|infiltrate]] (small [[lymphocytes]], [[plasma cells]], [[plasmacytoid]] [[Cells (biology)|cells]], [[Immunoblast|immunoblasts]] with [[mitotic]] figures)
 
===Electrophoresis and Immunofixation===
*[[Serum protein electrophoresis]] is important for the [[diagnosis]] of [[lymphoplasmacytic lymphoma|Waldenstrom's macroglobulinemia]]
*Findings on an [[electrophoresis]] [[diagnostic]] of [[Waldenström's macroglobulinemia|Waldenstrom's macroglobulinemia]]<nowiki/> include:<ref name="pmid1872571">{{cite journal| author=Riches PG, Sheldon J, Smith AM, Hobbs JR| title=Overestimation of monoclonal immunoglobulin by immunochemical methods. | journal=Ann Clin Biochem | year= 1991 | volume= 28 ( Pt 3) | issue=  | pages= 253-9 | pmid=1872571 | doi=10.1177/000456329102800310 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1872571  }} </ref>
**Sharp, narrow [[Spike sorting|spike]] of [[monoclonal]] [[IgM]] [[protein]]
**[[Dense]] band of [[monoclonal]] [[IgM]] [[protein]]
**The [[paraprotein]] can be of any [[Size consistency|size]]
*[[Serum]] [[immunofixation]] is important for the [[diagnosis]] of [[Waldenström's macroglobulinemia|Waldenstrom's macroglobulinemia]]. It helps in [[Confirmatory factor analysis|confirming]] the [[Presenting symptom|presence]] of a [[Monoclonal|monoclonal protein]], in [[Addition reaction|addition]] to determining its type<ref name="pmid1872571">{{cite journal| author=Riches PG, Sheldon J, Smith AM, Hobbs JR| title=Overestimation of monoclonal immunoglobulin by immunochemical methods. | journal=Ann Clin Biochem | year= 1991 | volume= 28 ( Pt 3) | issue=  | pages= 253-9 | pmid=1872571 | doi=10.1177/000456329102800310 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1872571  }} </ref>
 
{|
|
[[File:Serum immunofixation electrophoresis.png|thumb|250px|none| Serum immunofixation electrophoresis. (A) There is a slightly dense band with IgM, kappa antisera, suggestive of monoclonal gammopathy (B) After the treatment, a dense band with IgM was disappeared.[https://openi.nlm.nih.gov/detailedresult.php?img=PMC3102879_jkms-26-824-g002&query=waldenstrom+macroglobulinaemia&it=xg&req=4&npos=41 Source: Kim YL. et al, Department of Internal Medicine, Eulji University College of Medicine, Seoul, Korea.]]]
|}
 
===CSF flow cytometry, protein electrophoresis and immunofixation for diagnosis of Bing-Neel syndrome:===
*For [[Diagnosis|diagnosing]] [[Bing-Neel syndrome]], after [[lumbar puncture]], [[CSF]] [[flow cytometry]] is [[done]] which shows a [[Lambda (anatomy)|lambda]] [[light chain]]-[[Restriction|restricted]] [[population]] of [[B-cells]] consistent with a [[CD5]]+ [[CD10]]+ [[B-cell lymphoma]]
*Furthermore, [[protein electrophoresis]] and [[immunofixation]] should be [[done]] for the [[Detection theory|detection]] and [[classification]] of a [[monoclonal]] [[protein]] as well as [[molecular]] [[diagnostic testing]] for [[immunoglobulin]] [[gene]] [[rearrangement]] and [[mutated]] [[MYD88]]<ref name="pmid30228918">{{cite journal| author=O'Neil DS, Francescone MA, Khan K, Bachir A, O'Connor OA, Sawas A| title=A Case of Bing-Neel Syndrome Successfully Treated with Ibrutinib. | journal=Case Rep Hematol | year= 2018 | volume= 2018 | issue=  | pages= 8573105 | pmid=30228918 | doi=10.1155/2018/8573105 | pmc=6136466 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30228918  }} </ref><ref name="pmid27758817">{{cite journal| author=Minnema MC, Kimby E, D'Sa S, Fornecker LM, Poulain S, Snijders TJ et al.| title=Guideline for the diagnosis, treatment and response criteria for Bing-Neel syndrome. | journal=Haematologica | year= 2017 | volume= 102 | issue= 1 | pages= 43-51 | pmid=27758817 | doi=10.3324/haematol.2016.147728 | pmc=5210231 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27758817  }} </ref><ref name="pmid30279255">{{cite journal| author=Tallant A, Selig D, Wanko SO, Roswarski J| title=First-line ibrutinib for Bing-Neel syndrome. | journal=BMJ Case Rep | year= 2018 | volume= 2018 | issue=  | pages=  | pmid=30279255 | doi=10.1136/bcr-2018-226102 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30279255  }} </ref>
 
{|
|
[[File:Brain biopsy gif.gif|thumb|250px|none| Stereostactic brain biopsy showing diffuse infiltration of atypical plasmacytoid lymphocytes into the dural fibrous tissue (A) Hematoxylin & eosin (original magnification ×200); (B) Positive immunohistochemical staining for CD20 (original magnification ×40). [https://openi.nlm.nih.gov/detailedresult.php?img=PMC2694623_jkms-22-1079-g002&query=waldenstrom+macroglobulinaemia&it=xg&req=4&npos=29 Source: Kim HD. et al, Department of Internal Medicine, Yeoungnam University College of Medicine, Daegu, Korea.]]]
|
[[File:Csf plasmacytoid cells.png|thumb|250px|none| Plasmacytoid cells found on cytospin of the cerebrospinal fluid confirming cellular infiltration of the central nervous system.[https://openi.nlm.nih.gov/detailedresult.php?img=PMC4837273_CRIHEM2016-3931709.004&query=waldenstrom+macroglobulinaemia&it=xg&req=4&npos=71 Source: Halperin D. et al, Whipps Cross Hospital, London E11 1NR, UK.]]]
|}
 
==References==
{{Reflist|2}}
{{WH}}
{{WS}}
[[Category:Disease]]
[[Category:Blood]]
[[Category:Hematology]]

Latest revision as of 18:36, 15 August 2019

Waldenström's macroglobulinemia Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2], Shyam Patel [3], Roukoz A. Karam, M.D.[4]; Grammar Reviewer: Natalie Harpenau, B.S.[5]

Overview

The diagnosis of Waldenstrom's macroglobulinemia is based on bone marrow aspiration and biopsy and serum protein analysis studies such as immunohistochemistry, flow cytometry and cytogenetics to distinguish WM from other types of B-cell lymphomas. CSF flow cytometry, protein electrophoresis and immunofixation is done for the diagnosis of Bing-Neel syndrome (a late, but severe, rare complication).

Diagnostic Study of Choice

Diagnostic Criteria:

Diagnostic criteria presented in second International Workshop, Greece, 2002

In September 26-30, 2002, in Athens, Greece,the Second International Workshop was held in which a diagnostic criteria for Waldenstrom's Macroglobulinemia was proposed. According to this criteria, the following findings on performing bone marrow biopsy and serum protein analysis are confirmatory of Waldenström macroglobulinemia and exclude other small B cell lymphoid neoplasms with plasmacytic differentiation:[1]

Diagnostic criteria presented in second International Workshop, Greece, 2002
1:Presence of IgM monoclonal gammopathy of any concentration on serum protein analysis Necessary criteria
2:A bone marrow biopsy demonstrating more than 10% infiltration by small lymphocytes, plasmacytoid lymphocytes, and plasma cells, (with variable numbers of admixed immunoblasts), with an intertrabecular pattern consistent with lymphoplasmacytic lymphoma Proliferation centers (pathognomonic of CLL/SLL) and paler-appearing marginal zone type differentiation (seen in marginal zone lymphoma) are absent Necessary criteria
IgM concentration widely varies in WM, and it is not possible to define a concentration that reliably distinguishes WM from other lymphoproliferative disorders. Hence, a diagnosis of WM can be made irrespective of IgM concentration if there is an evidence of bone marrow infiltration by lymphoplasmacytoid lymphoma as defined by the Revised European-American Lymphoma classification and WHO criteria. This is a tumor of small lymphocytes showing evidence of plasmacytoid or plasma cell differentiation.
A recent study found that, in 39% of patients, the bone marrow aspirate contained a spectrum of small lymphocytes, plasmacytoid lymphocytes, and plasma cells; in 39% of patients, there was a predominance of small lymphocytes with fewer plasmacytoid lymphocytes or plasma cells, and 22% of the patients contained a mixture of small lymphocytes and plasma cells, with rare plasmacytoid cells. Mast cells were increased in 26% of patients.
3:Intertrabecular pattern of bone marrow infiltration Supportive criteria
4:Immunophenotype of the lymphoplasmacytic infiltrate consistent with Waldenstrom's macroglobulinemia. This includes: IgM+, CD5-, CD10-, CD11c-, CD19+, CD20+, CD22+, CD23-, CD25+, CD27+, FMC7+, CD103- and CD138+ Supportive criteria

mSMART guidelines for diagnosis of Waldenstrom macroglobulinemia and associated disorders

Mayo Stratification of Macroglobulinemia and Risk-Adapted Therapy (mSMART) Guidelines 2016 for diagnosis of Waldenstrom macroglobulinemia and associated disorders are as follows:[3]

mSMART guidelines 2016 for diagnosis of Waldenstrom macroglobulinemia and associated disorders
Waldenström macroglobulinemia IgM monoclonal gammopathy (regardless of the size of the M protein) with >10% bone marrow lymphoplasmacytic infiltration (usually intertrabecular) by small lymphocytes that exhibit plasmacytoid or plasma cell differentiation and a typical immunophenotype (surface IgM+, CD5–, CD10–, CD19+, CD20+, CD23–) that satisfactorily excludes other lymphoproliferative disorders, including chronic lymphocytic leukemia and mantle cell lymphoma
IgM MGUS Serum IgM monoclonal protein level <3 g/dL, bone marrow lymphoplasmacytic infiltration <10%, and no evidence of anemia, constitutional symptoms, hyperviscosity, lymphadenopathy, or hepatosplenomegaly
Smoldering Waldenström macroglobulinemia (indolent /asymptomatic Waldenström macroglobulinemia) Serum IgM monoclonal protein level ≥3 g/dL and/or bone marrow lymphoplasmacytic infiltration ≥10% and no evidence of end-organ damage, such as anemia, constitutional symptoms, hyperviscosity, lymphadenopathy, or hepatosplenomegaly, that can be attributed to a lymphoplasmacytic proliferative disorder

Definitive Diagnostic Tests

Bone Marrow Aspirate:

Bone marrow aspirate. Lymphocytes with lymphoplasmacytoid appearance (arrows).Source: D'Angelo G. et al, Laboratorio di Chimica-Clinica, Ematologia e Microbiologia (Ematologia/Coagulazione), Azienda Ospedaliera "S. Antonio Abate" di Gallarate, Varese, Italy.

Bone Marrow Biopsy:

Electrophoresis and Immunofixation

Serum immunofixation electrophoresis. (A) There is a slightly dense band with IgM, kappa antisera, suggestive of monoclonal gammopathy (B) After the treatment, a dense band with IgM was disappeared.Source: Kim YL. et al, Department of Internal Medicine, Eulji University College of Medicine, Seoul, Korea.

CSF flow cytometry, protein electrophoresis and immunofixation for diagnosis of Bing-Neel syndrome:

Stereostactic brain biopsy showing diffuse infiltration of atypical plasmacytoid lymphocytes into the dural fibrous tissue (A) Hematoxylin & eosin (original magnification ×200); (B) Positive immunohistochemical staining for CD20 (original magnification ×40). Source: Kim HD. et al, Department of Internal Medicine, Yeoungnam University College of Medicine, Daegu, Korea.
Plasmacytoid cells found on cytospin of the cerebrospinal fluid confirming cellular infiltration of the central nervous system.Source: Halperin D. et al, Whipps Cross Hospital, London E11 1NR, UK.

References

  1. ↑ 1.0 1.1 Dimopoulos MA, Kyle RA, Anagnostopoulos A, Treon SP (2005). "Diagnosis and management of Waldenstrom's macroglobulinemia". J Clin Oncol. 23 (7): 1564–77. doi:10.1200/JCO.2005.03.144. PMID 15735132.
  2. ↑ Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R; et al. (2016). "The 2016 revision of the World Health Organization classification of lymphoid neoplasms". Blood. 127 (20): 2375–90. doi:10.1182/blood-2016-01-643569. PMC 4874220. PMID 26980727.
  3. ↑ Ansell, Stephen M.; Kyle, Robert A.; Reeder, Craig B.; Fonseca, Rafael; Mikhael, Joseph R.; Morice, William G.; Bergsagel, P. Leif; Buadi, Francis K.; Colgan, Joseph P.; Dingli, David; Dispenzieri, Angela; Greipp, Philip R.; Habermann, Thomas M.; Hayman, Suzanne R.; Inwards, David J.; Johnston, Patrick B.; Kumar, Shaji K.; Lacy, Martha Q.; Lust, John A.; Markovic, Svetomir N.; Micallef, Ivana N.M.; Nowakowski, Grzegorz S.; Porrata, Luis F.; Roy, Vivek; Russell, Stephen J.; Short, Kristen E. Detweiler; Stewart, A. Keith; Thompson, Carrie A.; Witzig, Thomas E.; Zeldenrust, Steven R.; Dalton, Robert J.; Rajkumar, S. Vincent; Gertz, Morie A. (2010). "Diagnosis and Management of Waldenström Macroglobulinemia: Mayo Stratification of Macroglobulinemia and Risk-Adapted Therapy (mSMART) Guidelines". Mayo Clinic Proceedings. 85 (9): 824–833. doi:10.4065/mcp.2010.0304. ISSN 0025-6196.
  4. ↑ 4.0 4.1 4.2 Leleu X, Roccaro AM, Moreau AS, Dupire S, Robu D, Gay J; et al. (2008). "Waldenstrom macroglobulinemia". Cancer Lett. 270 (1): 95–107. doi:10.1016/j.canlet.2008.04.040. PMC 3133633. PMID 18555588.
  5. ↑ 5.0 5.1 Riches PG, Sheldon J, Smith AM, Hobbs JR (1991). "Overestimation of monoclonal immunoglobulin by immunochemical methods". Ann Clin Biochem. 28 ( Pt 3): 253–9. doi:10.1177/000456329102800310. PMID 1872571.
  6. ↑ O'Neil DS, Francescone MA, Khan K, Bachir A, O'Connor OA, Sawas A (2018). "A Case of Bing-Neel Syndrome Successfully Treated with Ibrutinib". Case Rep Hematol. 2018: 8573105. doi:10.1155/2018/8573105. PMC 6136466. PMID 30228918.
  7. ↑ Minnema MC, Kimby E, D'Sa S, Fornecker LM, Poulain S, Snijders TJ; et al. (2017). "Guideline for the diagnosis, treatment and response criteria for Bing-Neel syndrome". Haematologica. 102 (1): 43–51. doi:10.3324/haematol.2016.147728. PMC 5210231. PMID 27758817.
  8. ↑ Tallant A, Selig D, Wanko SO, Roswarski J (2018). "First-line ibrutinib for Bing-Neel syndrome". BMJ Case Rep. 2018. doi:10.1136/bcr-2018-226102. PMID 30279255.

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