Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma

Hamadeh, Fatima; MacNamara, Stephen; Bacon, Chris M.; Sohani, Aliyah R.; Swerdlow, Steven H.; Cook, James R.

doi:10.3324/haematol.2014.108688

Cited by 10 publications

(9 citation statements)

References 14 publications

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“…Specifically, other than in cases undergoing transformation (see discussion below), the lack of MYD88 mutations in “polymorphic LPL” suggests that these cases are better classified as something else [19]. Similarly, gamma heavy chain disease, which can resemble LPL, also lacks the mutation and thus does not represent a form of LPL [18]. It has been suggested that the lymphoplasmacytic proliferations associated with primary cold agglutinin disease are also not MYD88 mutated [38, 47], but 27 % of MYD88 -mutated WM in one study were reported to have associated cold agglutinin disease [37].…”

Section: Lymphoplasmacytic Lymphoma and The Impact Of Myd88 L265p Mutmentioning

confidence: 99%

“…9a–e). The reported absence of MYD88 L265P mutations in gamma heavy chain disease helps in the distinction from LPL [18]. The workshop also highlighted how MALT lymphomas can mimic IgG4-related disease or arise in the setting of IgG4-related disease, emphasizing the importance of establishing whether or not the IgG4+ plasma cells are light chain class restricted.…”

Section: Marginal Zone Lymphomas (With An Emphasis On Plasmacytic Difmentioning

confidence: 99%

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The many faces of small B cell lymphomas with plasmacytic differentiation and the contribution of MYD88 testing

et al. 2015

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Plasmacytic differentiation may occur in almost all small B cell lymphomas (SBLs), although it varies from being uniformly present (as in lymphoplasmacytic lymphoma (LPL)) to very uncommon (as in mantle cell lymphomas (MCLs)). The discovery of MYD88 L265P mutations in the vast majority of LPLs has had a major impact on the study of these lymphomas. Review of the cases contributed to the 2014 European Association for Haematopathology/Society for Hematopathology slide workshop illustrated how mutational testing has helped refine the diagnostic criteria for LPL, emphasizing the importance of identifying a clonal monotonous lymphoplasmacytic population and highlighting how LPL can still be diagnosed with extensive nodal architectural effacement, very subtle plasmacytic differentiation, follicular colonization, or uncommon phenotypes such as CD5 or CD10 expression. MYD88 L265P mutations were found in 11/11 LPL cases versus only 2 of 28 other SBLs included in its differential diagnosis. Mutational testing also helped to exclude other cases that would have been considered LPL in the past. The workshop also highlighted how plasmacytic differentiation can occur in chronic lymphocytic leukemia/small lymphocytic lymphoma, follicular lymphoma, SOX11 negative MCL, and particularly in marginal zone lymphomas, all of which can cause diagnostic confusion with LPL. The cases also highlighted the difficulty in distinguishing lymphomas with marked plasmacytic differentiation from plasma cell neoplasms. Some SBLs with plasmacytic differentiation can be associated with amyloid, other immunoglobulin deposition, or crystal-storing histiocytosis, which may obscure the underlying neoplasm. Finally, although generally indolent, LPL may transform, with the workshop cases suggesting a role for TP53 abnormalities.

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Section: Lymphoplasmacytic Lymphoma and The Impact Of Myd88 L265p Mutmentioning

confidence: 99%

Section: Marginal Zone Lymphomas (With An Emphasis On Plasmacytic Difmentioning

confidence: 99%

The many faces of small B cell lymphomas with plasmacytic differentiation and the contribution of MYD88 testing

et al. 2015

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“…Hastalık patogenezi ile ilişkili sorumlu mutasyonun bulunmasına rağmen, MYD88 L265P nokta mutasyonunun nodal marjinal zon lenfomalarda da bulunabileceği bilindiğinden mutasyonun gösterilmesi WS makroglobulinemi tanısını kesinleştiren bir bulgu olarak değerlendirilmemelidir (15)(16)(17). Bu hastalarda mutlaka klinikopatolojik verilerin bir bütün halinde moleküler ve diğer laboratuvar bulgularla birlikte değerlendirilmesi gerekmektedir.…”

Section: Lenfoplazmasitik Lenfoma (Lpl)unclassified

What are the Changes on B Cell Lymphomas in World Health Organization Lymphoma Classification Updated in 2016?

Kuzu¹

2017

LLM Dergi

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2008 yılından sonra özellikle gelişen moleküler teknikler, epigenetik faktörlerin ve mikroRNA'ların lenfosit biyolojisindeki öneminin anlaşılması, yüksek çözünürlükte dizileme teknolojilerinin gelişmesi ile lenfoma biyolojisi ve davranışı ile ilgili pek çok açıklanamayan bulgular aydınlanmaya başlamıştır. Dünya Sağlık Örgütü (DSÖ) Lenfoma Sınıflaması 2016 yılında güncellenmiştir. Lenfoma kitabı henüz basılmamıştır. Sınıflamayı yapan araştırıcıların bir kısmının hazırladığı derlemede sınıflamadaki başlıca değişiklikler ilk olarak yayınlanmıştır. Lenfoma ve lösemilerde tanı yöntemleri gelişmekte, tanı süreçlerinde basamaklar değişmektedir. Bu değişiklikler hastalıklara yaklaşımda eskisinden çok daha fazla klinik, patoloji ve genetik işbirliği gerektiğini göstermektedir. İş birliğinin ve uygun altyapının olmadığı veya tanı basamaklarında trafiğin iyi işlemediği hastalar için tanı gecikmesi ve tedavi yanıtının etkilenmesi kaçınılmazdır. Gecikmiş, eksik veya gereksiz tedaviler, tedavi başarısını ve sağkalımı kötü yönde etkilemektedir. Özellikle lenfoproliferatif hastalıklarla ilgilenen tüm hekimler için güncellenen sınıflama ile gelen en önemli yenilik disiplinler arası maksimum iş birliği olmalıdır. Bu derlemede B hücreli lenfomalarda 2008-2016 sınıflamaları arasındaki değişiklikler özetlenmektedir.

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“…However, recent work using whole genome sequencing revealed the presence of a recurrent point mutation in MYD88, which changes leucine at position 265 into a proline (L265P) in 67-100% of LPL/ WM. [86][87][88][89] MYD88 L265P is found infrequently in other small B-NHL 87,90,91 and is absent from multiple myeloma. 92 MYD88 can also be detected in BM biopsies with best results obtained in formaldehydefixed, ethylenediamine tetraacetic acid (EDTA)-decalcified trephines, making it a valuable diagnostic adjunct for the diagnosis of LPL/WM.…”

Section: Lymphoplasmacytic Lymphoma (Lpl)mentioning

confidence: 99%

Issues in diagnosis of small B cell lymphoid neoplasms involving the bone marrow and peripheral blood. Report on the Bone Marrow Workshop of the XVIIth meeting of the European Association for Haematopathology and the Society for Hematopathology

et al. 2016

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Small B cell lymphoid neoplasms are the most common lymphoproliferative disorders involving peripheral blood (PB) and bone marrow (BM). The Bone Marrow Workshop (BMW) organized by the European Bone Marrow Working Group (EBMWG) of the European Association for Haematopathology (EAHP) during the XVIIth EAHP Meeting in Istanbul, October 2014, was dedicated to discussion of cases illustrating how the recent advances in immunophenotyping, molecular techniques and cytogenetics provide better understanding and classification of these entities. Submitted cases were grouped into following categories: (i) cases illustrating diagnostic difficulties in chronic lymphocytic leukaemia (CLL); (ii) cases of BM manifestations of small B cell lymphoid neoplasms other than CLL; (iii) transformation of small B cell lymphoid neoplasms in the BM; and (iv) multiclonality and composite lymphomas in the BM. This report summarizes presented cases and conclusions of the BMW and provides practical recommendations for classification of the BM manifestations of small B cell lymphoid neoplasms based on the current state of knowledge.

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Gamma heavy chain disease lacks the MYD88 L265p mutation associated with lymphoplasmacytic lymphoma

Cited by 10 publications

References 14 publications

The many faces of small B cell lymphomas with plasmacytic differentiation and the contribution of MYD88 testing

The many faces of small B cell lymphomas with plasmacytic differentiation and the contribution of MYD88 testing

What are the Changes on B Cell Lymphomas in World Health Organization Lymphoma Classification Updated in 2016?

Issues in diagnosis of small B cell lymphoid neoplasms involving the bone marrow and peripheral blood. Report on the Bone Marrow Workshop of the XVIIth meeting of the European Association for Haematopathology and the Society for Hematopathology

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