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Case Reports
. 2017;56(7):847-851.
doi: 10.2169/internalmedicine.56.7340. Epub 2017 Apr 1.

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

Masaya Fukushima  1 , Yasushi Okoshi, Keiko Fukazawa, Mayuko Koshino, Shingo Ishiguro, Shoichi Mitsuhashi, Hitoaki Saitoh, Tatsuo Iijima, Hiroshi Kojima, Mitsuo Hori
Affiliations
Case Reports

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

Masaya Fukushima et al. Intern Med. 2017.

Abstract

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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Figures

Figure 1.
Figure 1.
Representative computed tomography and positron emission tomography (PET) images. (A) Swollen lymph nodes were observed in the right axilla (arrows) and abdominal para-aortic region (arrowhead). (B) A PET scan showed a 20 mm-nodule in the right lobe of the thyroid with the uptake of fluorodeoxyglucose (FDG) (maximum standardized uptake value, 11.13 units). The swollen lymph nodes, including those shown in (A), did not show the significant uptake of FDG.
Figure 2.
Figure 2.
The histology of the sigmoid colon biopsy specimens. (A) The infiltration of inflammatory cells (mostly plasma cells) was observed (arrows). Malignant findings were not indicated (Hematoxylin and Eosin staining, magnification ×400). (B) Most of the plasma cells were positive for immunoglobulin light chain kappa (arrowheads) (In situ hybridization for immunoglobulin light chains; magnification: ×400).
Figure 3.
Figure 3.
The bone marrow histology (clot section). (A) A bone marrow section revealed the infiltration of lymphocyte- and plasmacyte-like atypical cells of various sizes (Hematoxylin and Eosin staining; magnification: ×400). (B) The tumor cells showed the restriction of the immunoglobulin light chain, with an elevated kappa/lambda ratio, consistent with the findings in sigmoid colon tissue (In situ hybridization for immunoglobulin light chains; magnification: ×400).
See this image and copyright information in PMC

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