Prevalence of MYD88 L265P mutation in histologically proven, diffuse large B-cell vitreoretinal lymphoma

Harish Raja, Diva R. Salomão, David S. Viswanatha, Jose S Pulido

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Purpose: Myeloid differentiation primary response gene 88 (MYD88) is a universal adaptor protein in the innate immune system. When associated with a proline for leucine substitution mutation at position 265 (L265P), the protein becomes constitutively activated, amplifying the intracellular pro-inflammatory signal. Recently, we reported two cases of vitreoretinal lymphoma (VRL) that were positive for the mutation. The purpose of this study was to determine prevalence of the MYD88 L265P mutation in a larger series of VRL. Methods: Retrospective chart review of 25 patients with histologically confirmed VRL evaluated at Mayo Clinic, Rochester, between January 2000 and March 2015. Paraffinembedded blocks from the vitreous were submitted for polymerase chain reaction testing of the L265P mutation. Results: The mutation was positive in 82.4% of all VRL cases and 86.7% of primary VRL cases. The minimum necessary DNA concentration needed for the polymerase chain reaction assay was 4.93 ng/mL. Conclusion: MYD88 gene analysis is a helpful ancillary tool for diagnosing VRL. It often requires fewer cells than flow cytometry or cytology and may be especially useful in early cases where a sufficient number of cells may not be available.

Original languageEnglish (US)
Pages (from-to)624-628
Number of pages5
JournalRetina
Volume36
Issue number3
DOIs
StatePublished - 2016

Fingerprint

Lymphoma, Large B-Cell, Diffuse
Lymphoma
Mutation
Polymerase Chain Reaction
Proline
Leucine
Genes
Cell Biology
Immune System
Flow Cytometry
Proteins
Cell Count
DNA

Keywords

  • Diffuse large B-cell lymphoma
  • Myeloid differentiation primary response gene 88 (MYD88)
  • Vitreoretinal lymphoma

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Prevalence of MYD88 L265P mutation in histologically proven, diffuse large B-cell vitreoretinal lymphoma. / Raja, Harish; Salomão, Diva R.; Viswanatha, David S.; Pulido, Jose S.

In: Retina, Vol. 36, No. 3, 2016, p. 624-628.

Research output: Contribution to journalArticle

Raja, Harish ; Salomão, Diva R. ; Viswanatha, David S. ; Pulido, Jose S. / Prevalence of MYD88 L265P mutation in histologically proven, diffuse large B-cell vitreoretinal lymphoma. In: Retina. 2016 ; Vol. 36, No. 3. pp. 624-628.
@article{37ff53d44c5940ef8ea1a1ddf7240359,
title = "Prevalence of MYD88 L265P mutation in histologically proven, diffuse large B-cell vitreoretinal lymphoma",
abstract = "Purpose: Myeloid differentiation primary response gene 88 (MYD88) is a universal adaptor protein in the innate immune system. When associated with a proline for leucine substitution mutation at position 265 (L265P), the protein becomes constitutively activated, amplifying the intracellular pro-inflammatory signal. Recently, we reported two cases of vitreoretinal lymphoma (VRL) that were positive for the mutation. The purpose of this study was to determine prevalence of the MYD88 L265P mutation in a larger series of VRL. Methods: Retrospective chart review of 25 patients with histologically confirmed VRL evaluated at Mayo Clinic, Rochester, between January 2000 and March 2015. Paraffinembedded blocks from the vitreous were submitted for polymerase chain reaction testing of the L265P mutation. Results: The mutation was positive in 82.4{\%} of all VRL cases and 86.7{\%} of primary VRL cases. The minimum necessary DNA concentration needed for the polymerase chain reaction assay was 4.93 ng/mL. Conclusion: MYD88 gene analysis is a helpful ancillary tool for diagnosing VRL. It often requires fewer cells than flow cytometry or cytology and may be especially useful in early cases where a sufficient number of cells may not be available.",
keywords = "Diffuse large B-cell lymphoma, Myeloid differentiation primary response gene 88 (MYD88), Vitreoretinal lymphoma",
author = "Harish Raja and Salom{\~a}o, {Diva R.} and Viswanatha, {David S.} and Pulido, {Jose S}",
year = "2016",
doi = "10.1097/IAE.0000000000000996",
language = "English (US)",
volume = "36",
pages = "624--628",
journal = "Retina",
issn = "0275-004X",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

TY - JOUR

T1 - Prevalence of MYD88 L265P mutation in histologically proven, diffuse large B-cell vitreoretinal lymphoma

AU - Raja, Harish

AU - Salomão, Diva R.

AU - Viswanatha, David S.

AU - Pulido, Jose S

PY - 2016

Y1 - 2016

N2 - Purpose: Myeloid differentiation primary response gene 88 (MYD88) is a universal adaptor protein in the innate immune system. When associated with a proline for leucine substitution mutation at position 265 (L265P), the protein becomes constitutively activated, amplifying the intracellular pro-inflammatory signal. Recently, we reported two cases of vitreoretinal lymphoma (VRL) that were positive for the mutation. The purpose of this study was to determine prevalence of the MYD88 L265P mutation in a larger series of VRL. Methods: Retrospective chart review of 25 patients with histologically confirmed VRL evaluated at Mayo Clinic, Rochester, between January 2000 and March 2015. Paraffinembedded blocks from the vitreous were submitted for polymerase chain reaction testing of the L265P mutation. Results: The mutation was positive in 82.4% of all VRL cases and 86.7% of primary VRL cases. The minimum necessary DNA concentration needed for the polymerase chain reaction assay was 4.93 ng/mL. Conclusion: MYD88 gene analysis is a helpful ancillary tool for diagnosing VRL. It often requires fewer cells than flow cytometry or cytology and may be especially useful in early cases where a sufficient number of cells may not be available.

AB - Purpose: Myeloid differentiation primary response gene 88 (MYD88) is a universal adaptor protein in the innate immune system. When associated with a proline for leucine substitution mutation at position 265 (L265P), the protein becomes constitutively activated, amplifying the intracellular pro-inflammatory signal. Recently, we reported two cases of vitreoretinal lymphoma (VRL) that were positive for the mutation. The purpose of this study was to determine prevalence of the MYD88 L265P mutation in a larger series of VRL. Methods: Retrospective chart review of 25 patients with histologically confirmed VRL evaluated at Mayo Clinic, Rochester, between January 2000 and March 2015. Paraffinembedded blocks from the vitreous were submitted for polymerase chain reaction testing of the L265P mutation. Results: The mutation was positive in 82.4% of all VRL cases and 86.7% of primary VRL cases. The minimum necessary DNA concentration needed for the polymerase chain reaction assay was 4.93 ng/mL. Conclusion: MYD88 gene analysis is a helpful ancillary tool for diagnosing VRL. It often requires fewer cells than flow cytometry or cytology and may be especially useful in early cases where a sufficient number of cells may not be available.

KW - Diffuse large B-cell lymphoma

KW - Myeloid differentiation primary response gene 88 (MYD88)

KW - Vitreoretinal lymphoma

UR - http://www.scopus.com/inward/record.url?scp=84962026510&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84962026510&partnerID=8YFLogxK

U2 - 10.1097/IAE.0000000000000996

DO - 10.1097/IAE.0000000000000996

M3 - Article

C2 - 26900675

AN - SCOPUS:84962026510

VL - 36

SP - 624

EP - 628

JO - Retina

JF - Retina

SN - 0275-004X

IS - 3

ER -