眼内悪性リンパ腫診断におけるMYD88 L265P遺伝子変異検出の有用性

Usefulness of MYD88 L265P mutation detection for diagnosis of intraocular malignant lymphoma

要約　目的：眼内悪性リンパ腫におけるmyeloid differentiation primary response gene 88（MYD88）L265P遺伝子変異検出の有用性を検討する。

症例1：56歳，女性。右眼の網膜下白色滲出斑が出現し，当院を紹介され受診した。硝子体生検を施行し，細胞診陰性，interleukin（IL）-10/6比＞1，MYD88 L265P遺伝子変異陽性であった。

症例2：78歳，女性。右眼の急激な視力低下を伴う網膜下白色滲出斑を認め，当院を紹介され受診した。硝子体生検では細胞診陽性，IL-10/6比＞1，MYD88 L265P遺伝子変異陰性であった。

症例3：58歳，男性。左眼の視力低下を伴う硝子体混濁を認め，当院を紹介され受診した。硝子体生検では細胞診陰性，IL-10/6比＞1，MYD88 L265P遺伝子変異陰性であった。

結論：3例の眼内悪性リンパ腫のうち，MYD88 L265P遺伝子変異は1例のみで陽性であり，その検出率は高くなく，今後検討が必要である。

Abstract　Purpose：The usefulness of myeloid differentiation primary response gene 88（MYD88）L265P mutation detection in intraocular malignant lymphoma has been reported. In this study, we evaluate its usefulness in three cases of intraocular lymphoma.

Case 1：A 56-year-old woman was referred to our hospital because of the appearance of subretinal white exudative spots in her right eye. A vitreous biopsy was performed and revealed cytology negativity, interleukin（IL）-10/6 ratio＞1, and MYD88 L265P mutation positivity.

Case 2：A 78-year-old woman was referred to our hospital because of a retinal white exudative spot with sudden vision loss in her right eye. Vitreous biopsy revealed cytology positivity, IL-10/6 ratio＞1, and MYD88 L265P mutation negativity.

Case 3：A 58-year-old man was referred to our hospital because of vitreous opacity with decreased left visual acuity. Vitreous biopsy revealed cytology negativity, IL-10/6 ratio＞1, and MYD88 L265P mutation negativity.

Conclusion：Of the three intraocular malignant lymphomas, only one was positive for the MYD88 L265P mutation. The detection rate was not high, and further study is needed.