Journal Article Lymphoplasmacytic Lymphoma Presenting with Diarrhea and Joint Pain Which was Successfully Diagnosed by an MYD88 Mutation Analysis

Fukushima, Masaya  ,  Okoshi, Yasushi  ,  Fukazawa, Keiko  ,  Koshino, Mayuko  ,  Ishiguro, Shingo  ,  Mitsuhashi, Shoichi  ,  Saitoh, Hitoaki  ,  Iijima, Tatsuo  ,  Kojima, Hiroshi  ,  Hori, Mitsuo

56 ( 7 )  , pp.847 - 851 , 2017-04 , Japanese Society of Internal Medicine
A 55-year-old man presented to our department with diarrhea, weight loss, fatigability, and polyarthralgia. Blood tests revealed elevated soluble interleukin-2 receptor levels and IgG-type M protein positivity, without any findings that were suggestive of collagen disease. After computed tomography (CT) detected enlarged lymph nodes in the abdominal para-aortic region, lymphoma was suspected. CT-guided needle biopsy of the lymph node did not help to achieve a definitive diagnosis; however, a bone marrow test showed the pathological features of B-cell lymphoma. A genetic examination detected a MYD88 L265P mutation; the mutation analysis was valuable in diagnosing lymphoplasmacytic lymphoma in a IgM-type M protein-negative patient.

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