Tom 2, Nr 3-4 (2022)
PRACA POGLĄDOWA
Opublikowany online: 2023-01-10
Makroglobulinemia Waldenströma — diagnostyka i leczenie
12
Hematologia — Edukacja 2022;2(3-4):132-140.
Streszczenie
Makroglobulinemię Waldenströma (WM), według klasyfikacji Światowej Organizacji Zdrowia z 2017 roku, definiuje się jako współwystępowanie chłoniaka limfoplazmocytowego zajmującego szpik kostny z gammapatią monoklonalną klasy IgM niezależnie od stężenia białka monoklonalnego. Jest to rzadka choroba limfoproliferacyjna o charakterystycznych cechach klinicznych. Charakterystyka diagnostyczna w WM uległa istotnej zmianie wraz z odkryciem dwóch markerów molekularnych: MYD88 i CXCR4. Status mutacyjny tych markerów wpływa zarówno na obraz kliniczny i rokowanie, jak i wykazał implikacje terapeutyczne. Wybór leczenia w WM ściśle zależy od wieku pacjenta, ryzyka wystąpienia neuropatii związanej z leczeniem, ryzyka immunosupresji czy wtórnych nowotworów złośliwych. Krajobraz terapeutyczny poszerzył się w ostatnich latach, a zatwierdzenie ibrutynibu oraz ostatnio zanubrutynibu stanowi istotny krok naprzód w kierunku bardziej skutecznej terapii tej choroby.
Słowa kluczowe: makroglobulinemia Waldenströmachłoniak limfoplazmocytowybiałko monoklonalne klasy IgMinhibitor BTKibrutinibzanubrutynibrytuksymab
Referencje
- Owen RG, Treon SP, Al-Katib A, et al. Clinicopathological definition of Waldenstrom's macroglobulinemia: consensus panel recommendations from the Second International Workshop on Waldenstrom's Macroglobulinemia. Semin Oncol. 2003; 30(2): 110–115.
- Swerdlow SH, Campo E, Harris NL. WHO classification of tumours of haematopoietic and lymphoid tissues. IARC Press, Lyon 2008.
- Swerdlow SH, Campo E, Harris NL. World Health Organization classification of tumors. Pathology and genetics of tumours of hematopoietic and lymphoid tissues. IARC Press, Lyon 2017.
- Steingrímsson V, Lund SH, Turesson I, et al. Population-based study on the impact of the familial form of Waldenström macroglobulinemia on overall survival. Blood. 2015; 125(13): 2174–2175.
- Leleu X, Xie W, Bagshaw M, et al. The role of serum immunoglobulin free light chain in response and progression in waldenstrom macroglobulinemia. Clin Cancer Res. 2011; 17(9): 3013–3018.
- Ghobrial IM. Are you sure this is Waldenström macroglobulinemia? Hematology Am Soc Hematol Educ Program. 2012; 2012(1): 586–594.
- D'Souza A, Ansell S, Reeder C, et al. Waldenström macroglobulinaemia: the key questions. Br J Haematol. 2013; 162(3): 295–303.
- Morel P, Duhamel A, Gobbi P, et al. International prognostic scoring system for Waldenstrom macroglobulinemia. Blood. 2009; 113(18): 4163–4170.
- Braggio E, Philipsborn C, Novak A, et al. Molecular pathogenesis of Waldenstrom's macroglobulinemia. Haematologica. 2012; 97(9): 1281–1290.
- Lin SC, Lo YC, Wu H. Helical assembly in the MyD88-IRAK4-IRAK2 complex in TLR/IL-1R signalling. Nature. 2010; 465(7300): 885–890.
- Yang G, Zhou Y, Liu X, et al. A mutation in MYD88 (L265P) supports the survival of lymphoplasmacytic cells by activation of Bruton tyrosine kinase in Waldenström macroglobulinemia. Blood. 2013; 122(7): 1222–1232.
- Treon SP, Xu L, Guerrera ML, et al. Genomic landscape of Waldenström macroglobulinemia and its impact on treatment strategies. J Clin Oncol. 2020; 38(11): 1198–1208.
- Munshi M, Liu X, Chen JG, et al. SYK is activated by mutated MYD88 and drives pro-survival signaling in MYD88 driven B-cell lymphomas. Blood Cancer J. 2020; 10(1): 12.
- Manček-Keber M, Lainšček D, Benčina M, et al. Extracellular vesicle-mediated transfer of constitutively active MyD88 engages MyD88 and activates signaling. Blood. 2018; 131(15): 1720–1729.
- Poulain S, Roumier C, Venet-Caillault A, et al. Genomic landscape of CXCR4 mutations in Waldenström macroglobulinemia. Clin Cancer Res. 2016; 22(6): 1480–1488.
- Nie Y, Waite J, Brewer F, et al. The role of CXCR4 in maintaining peripheral B cell compartments and humoral immunity. J Exp Med. 2004; 200(9): 1145–1156.
- Chatterjee S, Behnam Azad B, Nimmagadda S. The intricate role of CXCR4 in cancer. Adv Cancer Res. 2014; 124: 31–82.
- Hunter ZR, Xu L, Yang G, et al. The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis. Blood. 2014; 123(11): 1637–1646.
- Treon SP, Cao Y, Xu L, et al. Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia. Blood. 2014; 123(18): 2791–2796.
- Cao Y, Hunter ZR, Liu X, et al. The WHIM-like CXCR4(S338X) somatic mutation activates AKT and ERK, and promotes resistance to ibrutinib and other agents used in the treatment of Waldenstrom's Macroglobulinemia. Leukemia. 2015; 29(1): 169–176.
- Roccaro AM, Sacco A, Jimenez C, et al. C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma. Blood. 2014; 123(26): 4120–4131.
- Xu L, Hunter ZR, Tsakmaklis N, et al. Clonal architecture of CXCR4 WHIM-like mutations in Waldenström macroglobulinaemia. Br J Haematol. 2016; 172(5): 735–744.
- Treon SP, Xu L, Yang G, et al. MYD88 L265P somatic mutation in Waldenström's macroglobulinemia. N Engl J Med. 2012; 367(9): 826–833.
- Gertz MA. Waldenström macroglobulinemia: 2019 update on diagnosis, risk stratification, and management. Am J Hematol. 2019; 94(2): 266–276.
- Dimopoulos MA, Kastritis E, Owen RG, et al. Treatment recommendations for patients with Waldenström macroglobulinemia (WM) and related disorders: IWWM-7 consensus. Blood. 2014; 124(9): 1404–1411.
- Kastritis E, Leblond V, Dimopoulos MA, et al. ESMO Guidelines Committee, ESMO Guidelines Committee. Waldenström's macroglobulinaemia: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2018; 29(Suppl 4): iv41–iv50.
- Leblond V, Kastritis E, Advani R, et al. Treatment recommendations from the eighth International Workshop on Waldenström's Macroglobulinemia. Blood. 2016; 128(10): 1321–1328.
- Szczeklik A, Gajewski P. VI.G.5.6. Chłoniak limfoplazmocytowy makroglobulinemia Waldenströma. In: Szczeklik A. ed. Interna Szczeklika. Medycyna Praktyczna, Kraków 2021.
- Leblond V, Johnson S, Chevret S, et al. Results of a randomized trial of chlorambucil versus fludarabine for patients with untreated Waldenström macroglobulinemia, marginal zone lymphoma, or lymphoplasmacytic lymphoma. J Clin Oncol. 2013; 31(3): 301–307.
- Gavriatopoulou M, Ntanasis-Stathopoulos I, Kastritis E, et al. How I treat rituximab refractory patients with WM. Oncotarget. 2018; 9(96): 36824–36825.
- Castillo JJ, Kanan S, Meid K, et al. Rituximab intolerance in patients with Waldenström macroglobulinaemia. Br J Haematol. 2016; 174(4): 645–648.
- Treon SP, Tripsas CK, Meid K, et al. Ibrutinib in previously treated Waldenström's macroglobulinemia. N Engl J Med. 2015; 372(15): 1430–1440.
- Treon SP, Xu L, Hunter Z. MYD88 mutations and response to ibrutinib in Waldenström's macroglobulinemia. N Engl J Med. 2015; 373(6): 584–586.
- Tam CS, Opat S, D'Sa S, et al. A randomized phase 3 trial of zanubrutinib vs ibrutinib in symptomatic Waldenström macroglobulinemia: the ASPEN study. Blood. 2020; 136(18): 2038–2050.
- Owen RG, McCarthy H, Rule S, et al. Acalabrutinib monotherapy in patients with Waldenström macroglobulinemia: a single-arm, multicentre, phase 2 study. Lancet Haematol. 2020; 7(2): e112–e121.
- Dimopoulos MA, Tedeschi A, Trotman J, et al. iNNOVATE Study Group and the European Consortium for Waldenström’s Macroglobulinemia. Phase 3 trial of ibrutinib plus rituximab in Waldenström's macroglobulinemia. N Engl J Med. 2018; 378(25): 2399–2410.
- Castillo JJ, Advani RH, Branagan AR, et al. Consensus treatment recommendations from the tenth International Workshop for Waldenström Macroglobulinaemia. Lancet Haematol. 2020; 7(11): e827–e837.
