An unusual case of cutaneous Waldenström macroglobulinemia with the MYD88 L265P mutation

Abstract

Waldenström macroglobulinemia is a lymphoplasmacytic lymphoma with bone marrow involvement and a monoclonal IgM gammopathy. Infiltration of the skin by neoplastic cells is very rare, and it can be difficult to distinguish from marginal zone lymphoma. The MYD88 L265P mutation is strongly associated with Waldenström macroglobulinemia, and it may be helpful in differentiating the two disorders, although the presence of this mutation is not specific, and other factors must be considered when making the final diagnosis. We present a diagnostically challenging case of cutaneous Waldenström macroglobulinemia in which the MYD88 L265P mutation was identified in the skin but not in the bone marrow, due to a low tumor burden.

Successful Implementation of Combined Treatment Methods for a Rare Recurrence of Waldenstrom Macroglobulinemia With Extramedullary Lesions

“…At the time of writing this publication, the authors did not find similar cases of extramedullary lesions in WM in domestic sources. However, colleagues from the National Defense Medical Center (Taipei, Taiwan) described a clinical case of a 62-year-old man with WM with rapid development (within 3 months) of soft tissue, painless, non-adhered to the surrounding subcutaneous fat lesions on the right shoulder (7 × 5 × 4 cm), and in the left elbow joint area (4 × 3 × 2 cm) [ 3 ]. Clonal lymphoplasmacytic cells were present in all lesions according to the IHC study of the biopsy specimen.…”

“…The etiology of WM continues to be unknown. One of the possible reasons affecting the further development of the disease is considered as genetic predisposition (mutation of the MYD88 protein gene) [ 3 , 4 ]. The MYD88 gene is localized on the short arm of chromosome 3 of macrophages and B-lymphocytes and encodes the MYD88 protein of the same name.…”

Beyond Monoclonal Gammopathy of Undetermined Significance, Clinical Spectrum of Immunoglobulin M Gammopathy: A Case Series with Focus on the Diagnostic and Management Challenges

“…Although the mechanism of action is unclear, MYD88 binds to BTK, enhancing phosphorylation and augmenting tumor survival [ 17 ]. The leucine-to-proline amino acid substitution of MYD88 causes activation of signaling cascade NF-κB which enhances cell proliferation and is of clinical significance [ 18 ]. Somatic CXCR4 mutation is seen in patients with WM although not as ubiquitous as MYD88 mutation [ 19 ].…”

Asymptomatic erythematous plaques on the trunk

“…In patients with low tumor burden in the bone marrow, polymerase chain reaction on skin biopsy can have higher sensitivity in detecting this mutation. 4 BRCA1-associated protein 1 – Incorrect. Inherited variants of this mutation are associated with a tumor predisposition syndrome.…”

“…In patients with low tumor burden in the bone marrow, polymerase chain reaction on skin biopsy can have higher sensitivity in detecting this mutation. 4 …”