Diagnostic challenges in Waldenstrőm macroglobulinemia: a case report

Stella Pravita; Ugroseno Yudho Bintoro; Putu Niken Ayu Amrita

doi:10.15562/bmj.v11i1.3160

Diagnostic challenges in Waldenstrőm macroglobulinemia: a case report

Stella Pravita ,

Ugroseno Yudho Bintoro ,

Putu Niken Ayu Amrita ,

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DOI: https://doi.org/10.15562/bmj.v11i1.3160 |
Published: 2022-04-08

Abstract

Background: Waldenstrom macroglobulinemia (WM) is a rare, dormant hematologic disease. It often manifests in people over 60 years of age and considered a hereditary disorder with MYD88 and CXCR4 genes mutation. In Indonesia, WM medical records is limited, causing potential misdiagnose or mistreatment. This article reported a case of WM patient and its challenging diagnosis establishment.

Case Presentation: A 67-year-old woman was referred with chief complaints of extremities swelling with recurrent anemia, bone pain, and elevated renal function. Protein electrophoresis indicated monoclonal gammopathy, suspected as multiple myeloma. However, further examinations did not support the diagnosis of multiple myeloma as the results revealed increased B2 microglobulin (5.65mg/L). IgM immunofixation suggested IgM lambda monoclonal gammopathy. Bone marrow aspiration (BMA) showed dominant lymphoplasmacytic cells (68%) and flowcytometry test of serum plasma indicated positive CD10 and CD34, whereas CD5 and CD19 were negative. The differential diagnoses have also been ruled out one by one to provide appropriate treatment for the patient. After all examinations, the patient was finally diagnosed with WM and treated with bortezomib, low-dose dexamethasone, and rituximab (BDR) regimen for five cycles.

Conclusion: WM is rare case of hematologic disease and the diagnosis of the case could face challenges due to diagnostic difficulty. Protein electrophoresis and BMA could help to improve the diagnosis process.

References

Teras LR, DeSantis CE, Cerhan JR, Morton LM, Jemal A, Flowers CR. 2016 US lymphoid malignancy statistics by World Health Organization subtypes. CA Cancer J Clin. 2016;66(6):443-59.
Monge J, Braggio E, Ansell SM. Genetic factors and pathogenesis of Waldenström’s macroglobulinemia. Curr Oncol Rep. 2013;15(5):450-6.
Kastritis E, Leblond V, Dimopoulos MA, Kimby E, Staber P, Kersten MJ, et al. Waldenström’s macroglobulinaemia: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2018;29:iv41-iv50.
Owen RG, editor Developing diagnostic criteria in Waldenstrom's macroglobulinemia. Semin Oncol; 2003: Elsevier.
Gertz MA. Waldenström macroglobulinemia treatment algorithm 2018. Blood Cancer J. 2018;8(4):1-7.
Ansell SM, Kyle RA, Reeder CB, Fonseca R, Mikhael JR, Morice WG, et al., editors. Diagnosis and management of Waldenström macroglobulinemia: Mayo stratification of macroglobulinemia and risk-adapted therapy (mSMART) guidelines. Mayo Clinic Proceedings; 2010: Elsevier.
Swerdlow S, Cook J, Sohani A, Pileri S, Harris N, Jaffe E. Lymphoplasmacytic Lymphoma in WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. WHO. 2017:232-5.
Vijay A, Gertz MA. Waldenström macroglobulinemia. Blood, The Journal of the American Society of Hematology. 2007;109(12):5096-103.
Gertz MA. Waldenström macroglobulinemia: 2019 update on diagnosis, risk stratification, and management. Am J Hematol. 2019;94(2):266-76.
Dimopoulos MA, Tedeschi A, Trotman J, García-Sanz R, Macdonald D, Leblond V, et al. Phase 3 trial of ibrutinib plus rituximab in Waldenström’s macroglobulinemia. New Engl J Med. 2018;378(25):2399-410.
Ghobrial IM, Fonseca R, Gertz MA, Plevak MF, Larson DR, Therneau TM, et al. Prognostic model for disease‐specific and overall mortality in newly diagnosed symptomatic patients with Waldenstrom macroglobulinaemia. Br J Haematol. 2006;133(2):158-64.
Dimopoulos MA, Gika D, Zervas K, Kyrtsonis MC, Symeonidis A, Anagnostopoulos A, et al. The international staging system for multiple myeloma is applicable in symptomatic Waldenstrom's macroglobulinemia. Leuk Lymphoma. 2004;45(9):1809-13.
Morel P, Duhamel A, Gobbi P, Dimopoulos MA, Dhodapkar MV, McCoy J, et al. International prognostic scoring system for Waldenström macroglobulinemia. Blood. 2009;113(18):4163-70.

[1] Teras LR, DeSantis CE, Cerhan JR, Morton LM, Jemal A, Flowers CR. 2016 US lymphoid malignancy statistics by World Health Organization subtypes. CA Cancer J Clin. 2016;66(6):443-59.

[2] Monge J, Braggio E, Ansell SM. Genetic factors and pathogenesis of Waldenström’s macroglobulinemia. Curr Oncol Rep. 2013;15(5):450-6.

[3] Kastritis E, Leblond V, Dimopoulos MA, Kimby E, Staber P, Kersten MJ, et al. Waldenström’s macroglobulinaemia: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2018;29:iv41-iv50.

[4] Owen RG, editor Developing diagnostic criteria in Waldenstrom's macroglobulinemia. Semin Oncol; 2003: Elsevier.

[5] Gertz MA. Waldenström macroglobulinemia treatment algorithm 2018. Blood Cancer J. 2018;8(4):1-7.

[6] Ansell SM, Kyle RA, Reeder CB, Fonseca R, Mikhael JR, Morice WG, et al., editors. Diagnosis and management of Waldenström macroglobulinemia: Mayo stratification of macroglobulinemia and risk-adapted therapy (mSMART) guidelines. Mayo Clinic Proceedings; 2010: Elsevier.

[7] Swerdlow S, Cook J, Sohani A, Pileri S, Harris N, Jaffe E. Lymphoplasmacytic Lymphoma in WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. WHO. 2017:232-5.

[8] Vijay A, Gertz MA. Waldenström macroglobulinemia. Blood, The Journal of the American Society of Hematology. 2007;109(12):5096-103.

[9] Gertz MA. Waldenström macroglobulinemia: 2019 update on diagnosis, risk stratification, and management. Am J Hematol. 2019;94(2):266-76.

[10] Dimopoulos MA, Tedeschi A, Trotman J, García-Sanz R, Macdonald D, Leblond V, et al. Phase 3 trial of ibrutinib plus rituximab in Waldenström’s macroglobulinemia. New Engl J Med. 2018;378(25):2399-410.

[11] Ghobrial IM, Fonseca R, Gertz MA, Plevak MF, Larson DR, Therneau TM, et al. Prognostic model for disease‐specific and overall mortality in newly diagnosed symptomatic patients with Waldenstrom macroglobulinaemia. Br J Haematol. 2006;133(2):158-64.

[12] Dimopoulos MA, Gika D, Zervas K, Kyrtsonis MC, Symeonidis A, Anagnostopoulos A, et al. The international staging system for multiple myeloma is applicable in symptomatic Waldenstrom's macroglobulinemia. Leuk Lymphoma. 2004;45(9):1809-13.

[13] Morel P, Duhamel A, Gobbi P, Dimopoulos MA, Dhodapkar MV, McCoy J, et al. International prognostic scoring system for Waldenström macroglobulinemia. Blood. 2009;113(18):4163-70.

Diagnostic challenges in Waldenstrőm macroglobulinemia: a case report

Abstract

References

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