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Multiple myeloma(MM)

MedGen UID:
10122
Concept ID:
C0026764
Neoplastic Process
Synonyms: Familial Myeloma; MM; Multiple myeloma, somatic; Plasma cell myeloma
SNOMED CT: Multiple myeloma (clinical) (109989006); Plasmacytic myeloma (109989006); Kahler's disease (109989006); Myelomatosis (109989006); Multiple myeloma (109989006); Myeloma (109989006); Plasma cell myeloma (1162576007); Myelomatosis (1162576007); Multiple myeloma (1162576007); Plasma cell myeloma (109989006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Genes (locations): CCND1 (11q13.3); LIG4 (13q33.3)
 
HPO: HP:0006775
Monarch Initiative: MONDO:0009693
OMIM®: 254500
Orphanet: ORPHA29073

Definition

Multiple myeloma is a neoplastic plasma cell disorder characterized by clonal proliferation of malignant plasma cells in the bone marrow microenvironment, monoclonal protein in the blood or urine, and associated organ dysfunction (Palumbo and Anderson, 2011). [from OMIM]

Additional description

From MedlinePlus Genetics
Multiple myeloma is a cancer that develops in the bone marrow, the spongy tissue found in the center of most bones. The bone marrow produces red blood cells, which carry oxygen throughout the body; white blood cells, which form the body's defenses (immune system); and platelets, which are necessary for blood clotting.

Multiple myeloma is characterized by abnormalities in plasma cells, a type of white blood cell. These abnormal cells multiply out of control, increasing from about one percent of cells in the bone marrow to the majority of bone marrow cells. The abnormal cells form tumors within the bone, causing bone pain and an increased risk of fractures. If the tumors interfere with nerves near the bones, numbness or weakness in the arms or legs can occur. Affected individuals may also experience a loss of bone tissue, particularly in the skull, spine, ribs, and pelvis. The deterioration of bone can result in an excess of calcium in the blood (hypercalcemia), which can lead to nausea and loss of appetite, excessive thirst, fatigue, muscle weakness, and confusion.

The abnormal plasma cells in multiple myeloma produce proteins that impair the development of normal blood cells. As a result, affected individuals may have a reduced number of red blood cells (anemia), which can cause fatigue, weakness, and unusually pale skin (pallor); a low number of white blood cells (leukopenia), which can result in a weakened immune system and frequent infections such as pneumonia; and a reduced number of platelets (thrombocytopenia), which can lead to abnormal bleeding and bruising. Kidney problems can also occur in this disorder, caused by hypercalcemia or by toxic proteins produced by the abnormal plasma cells.

People with multiple myeloma typically develop the disorder around age 65. Over time, affected individuals can develop life-threatening complications, but the rate at which this happens varies widely. Some affected individuals are diagnosed incidentally when tests are done for other purposes and do not experience symptoms for years.  https://medlineplus.gov/genetics/condition/multiple-myeloma

Clinical features

From HPO
Multiple myeloma
MedGen UID:
10122
Concept ID:
C0026764
Neoplastic Process
Multiple myeloma is a neoplastic plasma cell disorder characterized by clonal proliferation of malignant plasma cells in the bone marrow microenvironment, monoclonal protein in the blood or urine, and associated organ dysfunction (Palumbo and Anderson, 2011).
Paraproteinemia
MedGen UID:
10577
Concept ID:
C0030489
Disease or Syndrome
An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.
Amyloidosis
MedGen UID:
272
Concept ID:
C0002726
Disease or Syndrome
The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.

Conditions with this feature

Multiple myeloma
MedGen UID:
10122
Concept ID:
C0026764
Neoplastic Process
Multiple myeloma is a neoplastic plasma cell disorder characterized by clonal proliferation of malignant plasma cells in the bone marrow microenvironment, monoclonal protein in the blood or urine, and associated organ dysfunction (Palumbo and Anderson, 2011).
Gaucher disease type I
MedGen UID:
409531
Concept ID:
C1961835
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.

Professional guidelines

PubMed

Rajkumar SV
Am J Hematol 2022 Aug;97(8):1086-1107. Epub 2022 May 23 doi: 10.1002/ajh.26590. PMID: 35560063Free PMC Article
Dimopoulos MA, Moreau P, Terpos E, Mateos MV, Zweegman S, Cook G, Delforge M, Hájek R, Schjesvold F, Cavo M, Goldschmidt H, Facon T, Einsele H, Boccadoro M, San-Miguel J, Sonneveld P, Mey U; EHA Guidelines Committee. Electronic address: guidelines@ehaweb.org; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2021 Mar;32(3):309-322. Epub 2021 Feb 3 doi: 10.1016/j.annonc.2020.11.014. PMID: 33549387
Rajkumar SV, Dimopoulos MA, Palumbo A, Blade J, Merlini G, Mateos MV, Kumar S, Hillengass J, Kastritis E, Richardson P, Landgren O, Paiva B, Dispenzieri A, Weiss B, LeLeu X, Zweegman S, Lonial S, Rosinol L, Zamagni E, Jagannath S, Sezer O, Kristinsson SY, Caers J, Usmani SZ, Lahuerta JJ, Johnsen HE, Beksac M, Cavo M, Goldschmidt H, Terpos E, Kyle RA, Anderson KC, Durie BG, Miguel JF
Lancet Oncol 2014 Nov;15(12):e538-48. Epub 2014 Oct 26 doi: 10.1016/S1470-2045(14)70442-5. PMID: 25439696

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Multiple Myeloma, 2024

Recent clinical studies

Etiology

Rodriguez-Otero P, Paiva B, San-Miguel JF
Cancer Treat Rev 2021 Nov;100:102284. Epub 2021 Aug 31 doi: 10.1016/j.ctrv.2021.102284. PMID: 34597912
van de Donk NWCJ, Pawlyn C, Yong KL
Lancet 2021 Jan 30;397(10272):410-427. doi: 10.1016/S0140-6736(21)00135-5. PMID: 33516340
Kumar SK, Rajkumar V, Kyle RA, van Duin M, Sonneveld P, Mateos MV, Gay F, Anderson KC
Nat Rev Dis Primers 2017 Jul 20;3:17046. doi: 10.1038/nrdp.2017.46. PMID: 28726797
Brigle K, Rogers B
Semin Oncol Nurs 2017 Aug;33(3):225-236. Epub 2017 Jul 5 doi: 10.1016/j.soncn.2017.05.012. PMID: 28688533
Kyle RA, Rajkumar SV
Blood 2008 Mar 15;111(6):2962-72. doi: 10.1182/blood-2007-10-078022. PMID: 18332230Free PMC Article

Diagnosis

Silberstein J, Tuchman S, Grant SJ
JAMA 2022 Feb 1;327(5):497. doi: 10.1001/jama.2021.25306. PMID: 35103765
Rajkumar SV
Hematol Oncol 2019 Jun;37 Suppl 1(Suppl 1):62-65. doi: 10.1002/hon.2586. PMID: 31187526Free PMC Article
Medical Masterclass contributors, Firth J
Clin Med (Lond) 2019 Jan;19(1):58-60. doi: 10.7861/clinmedicine.19-1-58. PMID: 30651246Free PMC Article
Brigle K, Rogers B
Semin Oncol Nurs 2017 Aug;33(3):225-236. Epub 2017 Jul 5 doi: 10.1016/j.soncn.2017.05.012. PMID: 28688533
Palumbo A, Anderson K
N Engl J Med 2011 Mar 17;364(11):1046-60. doi: 10.1056/NEJMra1011442. PMID: 21410373

Therapy

Ebraheem MS, Chakraborty R, Rochwerg B, Visram A, Mohyuddin GR, Venner CP, Sandhu I, McCurdy A, Facon T, Mateos MV, Mian H
Blood Adv 2024 Dec 10;8(23):5993-6002. doi: 10.1182/bloodadvances.2024014139. PMID: 39348665Free PMC Article
Paiva B, Puig N, Cedena MT, Rosiñol L, Cordón L, Vidriales MB, Burgos L, Flores-Montero J, Sanoja-Flores L, Lopez-Anglada L, Maldonado R, de la Cruz J, Gutierrez NC, Calasanz MJ, Martin-Ramos ML, Garcia-Sanz R, Martinez-Lopez J, Oriol A, Blanchard MJ, Rios R, Martin J, Martinez-Martinez R, Sureda A, Hernandez MT, de la Rubia J, Krsnik I, Moraleda JM, Palomera L, Bargay J, Van Dongen JJM, Orfao A, Mateos MV, Blade J, San-Miguel JF, Lahuerta JJ; GEM (Grupo Español de Mieloma)/PETHEMA (Programa Para el Estudio de la Terapéutica en Hemopatías Malignas) Cooperative Study Group
J Clin Oncol 2020 Mar 10;38(8):784-792. Epub 2019 Nov 26 doi: 10.1200/JCO.19.01231. PMID: 31770060
Mateos MV, Dimopoulos MA, Cavo M, Suzuki K, Jakubowiak A, Knop S, Doyen C, Lucio P, Nagy Z, Kaplan P, Pour L, Cook M, Grosicki S, Crepaldi A, Liberati AM, Campbell P, Shelekhova T, Yoon SS, Iosava G, Fujisaki T, Garg M, Chiu C, Wang J, Carson R, Crist W, Deraedt W, Nguyen H, Qi M, San-Miguel J; ALCYONE Trial Investigators
N Engl J Med 2018 Feb 8;378(6):518-528. Epub 2017 Dec 12 doi: 10.1056/NEJMoa1714678. PMID: 29231133
Stewart AK, Rajkumar SV, Dimopoulos MA, Masszi T, Špička I, Oriol A, Hájek R, Rosiñol L, Siegel DS, Mihaylov GG, Goranova-Marinova V, Rajnics P, Suvorov A, Niesvizky R, Jakubowiak AJ, San-Miguel JF, Ludwig H, Wang M, Maisnar V, Minarik J, Bensinger WI, Mateos MV, Ben-Yehuda D, Kukreti V, Zojwalla N, Tonda ME, Yang X, Xing B, Moreau P, Palumbo A; ASPIRE Investigators
N Engl J Med 2015 Jan 8;372(2):142-52. Epub 2014 Dec 6 doi: 10.1056/NEJMoa1411321. PMID: 25482145
Kortuem KM, Stewart AK
Blood 2013 Feb 7;121(6):893-7. doi: 10.1182/blood-2012-10-459883. PMID: 23393020

Prognosis

Facon T, Moreau P, Weisel K, Goldschmidt H, Usmani SZ, Chari A, Plesner T, Orlowski RZ, Bahlis N, Basu S, Hulin C, Quach H, O'Dwyer M, Perrot A, Jacquet C, Venner CP, Raje N, Tiab M, Macro M, Frenzel L, Leleu X, Cook G, Wang G, Pei H, Krevvata M, Carson R, Borgsten F, Kumar SK
Leukemia 2025 Apr;39(4):942-950. Epub 2025 Feb 27 doi: 10.1038/s41375-024-02505-2. PMID: 40016302Free PMC Article
Mafra A, Laversanne M, Marcos-Gragera R, Chaves HVS, Mcshane C, Bray F, Znaor A
J Natl Cancer Inst 2025 May 1;117(5):907-914. doi: 10.1093/jnci/djae321. PMID: 39658225
Gay F, Musto P, Rota-Scalabrini D, Bertamini L, Belotti A, Galli M, Offidani M, Zamagni E, Ledda A, Grasso M, Ballanti S, Spadano A, Cea M, Patriarca F, D'Agostino M, Capra A, Giuliani N, de Fabritiis P, Aquino S, Palmas A, Gamberi B, Zambello R, Petrucci MT, Corradini P, Cavo M, Boccadoro M
Lancet Oncol 2021 Dec;22(12):1705-1720. Epub 2021 Nov 11 doi: 10.1016/S1470-2045(21)00535-0. PMID: 34774221
Fonseca R, Usmani SZ, Mehra M, Slavcev M, He J, Cote S, Lam A, Ukropec J, Maiese EM, Nair S, Potluri R, Voorhees PM
BMC Cancer 2020 Nov 10;20(1):1087. doi: 10.1186/s12885-020-07503-y. PMID: 33172403Free PMC Article
Richardson PG, Oriol A, Beksac M, Liberati AM, Galli M, Schjesvold F, Lindsay J, Weisel K, White D, Facon T, San Miguel J, Sunami K, O'Gorman P, Sonneveld P, Robak P, Semochkin S, Schey S, Yu X, Doerr T, Bensmaine A, Biyukov T, Peluso T, Zaki M, Anderson K, Dimopoulos M; OPTIMISMM trial investigators
Lancet Oncol 2019 Jun;20(6):781-794. Epub 2019 May 13 doi: 10.1016/S1470-2045(19)30152-4. PMID: 31097405

Clinical prediction guides

Gagelmann N, Dima D, Merz M, Hashmi H, Ahmed N, Tovar N, Oliver-Caldés A, Stölzel F, Rathje K, Fischer L, Born P, Schäfer L, Albici AM, Schub N, Kfir-Erenfeld S, Assayag M, Asherie N, Wulf GG, Kharboutli S, Müller F, Shune L, Davis JA, Anwer F, Vucinic V, Platzbecker U, Ayuk F, Kröger N, Khouri J, Gurnari C, McGuirk J, Stepensky P, Abdallah AO, Fernández de Larrea C
J Clin Oncol 2024 May 10;42(14):1665-1675. Epub 2024 Feb 15 doi: 10.1200/JCO.23.02232. PMID: 38358946Free PMC Article
D'Agostino M, Cairns DA, Lahuerta JJ, Wester R, Bertsch U, Waage A, Zamagni E, Mateos MV, Dall'Olio D, van de Donk NWCJ, Jackson G, Rocchi S, Salwender H, Bladé Creixenti J, van der Holt B, Castellani G, Bonello F, Capra A, Mai EK, Dürig J, Gay F, Zweegman S, Cavo M, Kaiser MF, Goldschmidt H, Hernández Rivas JM, Larocca A, Cook G, San-Miguel JF, Boccadoro M, Sonneveld P
J Clin Oncol 2022 Oct 10;40(29):3406-3418. Epub 2022 May 23 doi: 10.1200/JCO.21.02614. PMID: 35605179
Facon T, Dimopoulos MA, Meuleman N, Belch A, Mohty M, Chen WM, Kim K, Zamagni E, Rodriguez-Otero P, Renwick W, Rose C, Tempescul A, Boyle E, Manier S, Attal M, Moreau P, Macro M, Leleu X, Lorraine Chretien M, Ludwig H, Guo S, Sturniolo M, Tinel A, Silvia Monzini M, Costa B, Houck V, Hulin C, Yves Mary J
Leukemia 2020 Jan;34(1):224-233. Epub 2019 Aug 19 doi: 10.1038/s41375-019-0539-0. PMID: 31427722Free PMC Article
Greipp PR, San Miguel J, Durie BG, Crowley JJ, Barlogie B, Bladé J, Boccadoro M, Child JA, Avet-Loiseau H, Kyle RA, Lahuerta JJ, Ludwig H, Morgan G, Powles R, Shimizu K, Shustik C, Sonneveld P, Tosi P, Turesson I, Westin J
J Clin Oncol 2005 May 20;23(15):3412-20. Epub 2005 Apr 4 doi: 10.1200/JCO.2005.04.242. PMID: 15809451
Kyle RA, Gertz MA, Witzig TE, Lust JA, Lacy MQ, Dispenzieri A, Fonseca R, Rajkumar SV, Offord JR, Larson DR, Plevak ME, Therneau TM, Greipp PR
Mayo Clin Proc 2003 Jan;78(1):21-33. doi: 10.4065/78.1.21. PMID: 12528874

Recent systematic reviews

Tix T, Alhomoud M, Shouval R, Cliff ERS, Perales MA, Cordas Dos Santos DM, Rejeski K
Clin Cancer Res 2024 Oct 15;30(20):4690-4700. doi: 10.1158/1078-0432.CCR-24-1798. PMID: 39256908Free PMC Article
Cordas Dos Santos DM, Tix T, Shouval R, Gafter-Gvili A, Alberge JB, Cliff ERS, Theurich S, von Bergwelt-Baildon M, Ghobrial IM, Subklewe M, Perales MA, Rejeski K
Nat Med 2024 Sep;30(9):2667-2678. Epub 2024 Jul 8 doi: 10.1038/s41591-024-03084-6. PMID: 38977912Free PMC Article
Wilson RB, Lathigara D, Kaushal D
Int J Mol Sci 2023 Mar 24;24(7) doi: 10.3390/ijms24076192. PMID: 37047163Free PMC Article
Bladé J, Beksac M, Caers J, Jurczyszyn A, von Lilienfeld-Toal M, Moreau P, Rasche L, Rosiñol L, Usmani SZ, Zamagni E, Richardson P
Blood Cancer J 2022 Mar 21;12(3):45. doi: 10.1038/s41408-022-00643-3. PMID: 35314675Free PMC Article
Renehan AG, Tyson M, Egger M, Heller RF, Zwahlen M
Lancet 2008 Feb 16;371(9612):569-78. doi: 10.1016/S0140-6736(08)60269-X. PMID: 18280327

Supplemental Content

Table of contents

    Clinical resources

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Multiple Myeloma, 2024

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