MYD88 vitreous positivity in patients with uveitis
Purpose
Three female patients have been considered in differential diagnosis from vitreo-retinal lymphoma (VRL) for the presence of the characteristic vitreous sheets and/or retinal and subretinal infiltrates.
Methods
All patients underwent diagnostic vitrectomy which did not show a decisive cytology for lymphoma. Ancillary tests were found to be conflicting; in all 3 cases, the presence of the MYD88 L265P mutation was identified, while interleukin (IL)-10: IL-6 ratio was well below 1; two out of 3 cases showed the presence of clonality through the search for rearrangements of the immunoglobulin heavy (IgH) chains. All patients were followed up for at least 2 years after excluding a definitive diagnosis of lymphoma.
Results
They underwent an extensive diagnostic uveitis work-up: one patient was found to have birdshot chorioretinopathy, another to have panuveitis associated with sarcoidosis, while the third remained idiopathic. Brain magnetic resonance imaging repeated every six months always resulted negative for lymphoma lesions during follow-up. In conclusion, patients didn’t result affected by VRL but uveitis despite the MYD88 L265P mutation being positive.
Conclusion
Testing for MYD88 gene mutation on intraocular fluid is highly advised by recent consensus recommendations for the diagnosis of VRL because it is considered a strong indicator due to its high specificity despite relatively low sensitivity. Further studies are needed to evaluate the real specificity of MYD88 in the diagnosis of VRL considering cases here presented.
Conflict of interest
No
Authors 1
Last name
GOZZI
Initials of first name(s)
F
City
Reggio Emilia
Country
Italy
Authors 2
Last name
GENTILL
Initials of first name(s)
P
City
Reggio Emilia
Country
Italy
Authors 3
Last name
DE SIMONE
Initials of first name(s)
L
City
Reggio Emilia
Country
Italy
Authors 4
Last name
BOLLETTA
Initials of first name(s)
E
City
Reggio Emilia
Country
Italy
Authors 5
Last name
ADANI
Initials of first name(s)
Ch
City
Reggio Emilia
Country
Italy
Authors 6
Last name
MASTROFILIPPO
Initials of first name(s)
V
City
Reggio Emilia
Country
Italy
Authors 7
Last name
CIMINO
Initials of first name(s)
L
City
Modena
Country
Italy
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