REFERENCES

1. Grabowski GA, Kolodny EH, Weinreb NJ, et al. Phenotypic and Genetic Variation. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, Editors. The online metabolic and molecular bases of inherited disease. McGraw-Hill; 2019.Available from: https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225546386&utm_source=chatgpt.com [Last accessed on 17 Sep 2025].

2. Rosenbloom BE, Weinreb NJ. Gaucher disease: a comprehensive review. Crit Rev Oncog. 2013;18:163-75.

3. Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood. 2005;105:4569-72.

4. Bonesteele G, Gargus JJ, Curtin E, Tang M, Rosenbloom B, Kimonis V. Diffuse large B-cell non-Hodgkin’s lymphoma in Gaucher disease. Mol Genet Metab Rep. 2020;25:100663.

5. Rosenbloom BE, Cappellini MD, Weinreb NJ, et al. Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry. Am J Hematol. 2022;97:1337-47.

6. Erez A, Shchelochkov OA, Plon SE, et al. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011;88:402-21.

7. Langeveld M, Ghauharali KJ, Sauerwein HP, et al. Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance. J Clin Endocrinol Metab. 2008;93:845-51.

8. Taddei TH, Kacena KA, Yang M, et al. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol. 2009;84:208-14.

9. Kyle RA, Larson DR, Therneau TM, et al. Long-term follow-up of monoclonal gammopathy of undetermined significance. N Engl J Med. 2018;378:241-9.

10. Brautbar A, Elstein D, Pines G, Abrahamov A, Zimran A. Effect of enzyme replacement therapy on gammopathies in Gaucher disease. Blood Cells Mol Dis. 2004;32:214-7.

11. Nair S, Bar N, Xu ML, Dhodapkar M, Mistry PK. Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy. Mol Genet Metab. 2020;129:286-91.

12. Mistry PK, Lukina E, Ben Turkia H, et al. Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: the phase 3 ENGAGE trial. Am J Hematol. 2017;92:1170-6.

13. de Fost M, Out TA, de Wilde FA, et al. Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature. Ann Hematol. 2008;87:439-49.

14. Mistry PK, Balwani M, Charrow J, et al. Long-term effectiveness of eliglustat treatment: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry. Am J Hematol. 2024;99:1500-10.

15. Nair S, Branagan AR, Liu J, Boddupalli CS, Mistry PK, Dhodapkar MV. Clonal immunoglobulin against lysolipids in the origin of myeloma. N Engl J Med. 2016;374:555-61.

16. Nair S, Sng J, Boddupalli CS, et al. Antigen-mediated regulation in monoclonal gammopathies and myeloma. JCI Insight. 2018;3:98259.

17. Cox TM, Rosenbloom BE, Barker RA. Gaucher disease and comorbidities: B-cell malignancy and parkinsonism. Am J Hematol. 2015;90 Suppl 1:S25-8.

18. Dispenzieri A, Katzmann JA, Kyle RA, et al. Prevalence and risk of progression of light-chain monoclonal gammopathy of undetermined significance: a retrospective population-based cohort study. Lancet. 2010;375:1721-8.

19. Rajkumar SV, Dimopoulos MA, Palumbo A, et al. International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol. 2014;15:e538-48.

20. Kyle RA, Durie BG, Rajkumar SV, et al.; International Myeloma Working Group. Monoclonal gammopathy of undetermined significance (MGUS) and smoldering (asymptomatic) multiple myeloma: IMWG consensus perspectives risk factors for progression and guidelines for monitoring and management. Leukemia. 2010;24:1121-7.

21. Mateos MV, Kumar S, Dimopoulos MA, et al. International Myeloma Working Group risk stratification model for smoldering multiple myeloma (SMM). Blood Cancer J. 2020;10:102.

22. Lonial S, Jacobus S, Fonseca R, et al. Randomized trial of lenalidomide versus observation in smoldering multiple myeloma. J Clin Oncol. 2020;38:1126-37.

23. Dimopoulos MA, Voorhees PM, Schjesvold F, et al.; AQUILA Investigators. Daratumumab or Active monitoring for high-risk smoldering multiple myeloma. N Engl J Med. 2025;392:1777-88.

24. Joseph NS, Kaufman JL, Dhodapkar MV, et al. Long-term follow-up results of lenalidomide, bortezomib, and dexamethasone induction therapy and risk-adapted maintenance approach in newly diagnosed multiple myeloma. J Clin Oncol. 2020;38:1928-37.

25. Durie BGM, Hoering A, Sexton R, et al. Longer term follow-up of the randomized phase III trial SWOG S0777: bortezomib, lenalidomide and dexamethasone vs. lenalidomide and dexamethasone in patients (Pts) with previously untreated multiple myeloma without an intent for immediate autologous stem cell transplant (ASCT). Blood Cancer J. 2020;10:53.

26. Dingli D, Ailawadhi S, Bergsagel PL, et al. Therapy for relapsed multiple myeloma: guidelines from the mayo stratification for myeloma and risk-adapted therapy. Mayo Clin Proc. 2017;92:578-98.

27. Rodriguez-Otero P, Ailawadhi S, Arnulf B, et al. Ide-cel or standard regimens in relapsed and refractory multiple myeloma. N Engl J Med. 2023;388:1002-14.

28. San-Miguel J, Dhakal B, Yong K, et al. Cilta-cel or standard Care in lenalidomide-refractory multiple myeloma. N Engl J Med. 2023;389:335-47.

29. Moreau P, Garfall AL, van de Donk NWCJ, et al. Teclistamab in relapsed or refractory multiple myeloma. N Engl J Med. 2022;387:495-505.

30. Lesokhin AM, Tomasson MH, Arnulf B, et al. Elranatamab in relapsed or refractory multiple myeloma: phase 2 MagnetisMM-3 trial results. Nat Med. 2023;29:2259-67.

31. National Comprehensive Cancer Network. Multiple Myeloma (Version 2.2026). Available from: https://www.nccn.org/login?ReturnURL=https://www.nccn.org/professionals/physician_gls/pdf/myeloma.pdf [Last accessed on 17 Sep 2025].

32. Park JH, Moore AF, Kuter DJ. Long-term follow-up of monoclonal gammopathies in Gaucher disease patients on enzyme replacement therapy. Blood. 2006;108:3336.

33. Hughes D, Cappellini MD, Berger M, et al. Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol. 2007;138:676-86.

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