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Multiple myeloma(MM)

MedGen UID:
10122
Concept ID:
C0026764
Neoplastic Process
Synonyms: Familial Myeloma; Kahler disease; MM; Multiple myeloma, somatic; Myelomatosis; Plasma cell dyscrasia; 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 identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with 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. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.

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
Cowan AJ, Green DJ, Kwok M, Lee S, Coffey DG, Holmberg LA, Tuazon S, Gopal AK, Libby EN
JAMA 2022 Feb 1;327(5):464-477. doi: 10.1001/jama.2022.0003. PMID: 35103762
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, 2023

Recent clinical studies

Etiology

Charliński G, Jurczyszyn A
Adv Clin Exp Med 2022 Jan;31(1):95-100. doi: 10.17219/acem/141455. PMID: 34637200
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
Rajkumar SV
Hematol Oncol 2019 Jun;37 Suppl 1(Suppl 1):62-65. doi: 10.1002/hon.2586. PMID: 31187526Free 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
Rajkumar SV
Am Soc Clin Oncol Educ Book 2016;35:e418-23. doi: 10.1200/EDBK_159009. PMID: 27249749

Diagnosis

Charliński G, Jurczyszyn A
Adv Clin Exp Med 2022 Jan;31(1):95-100. doi: 10.17219/acem/141455. PMID: 34637200
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
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

Therapy

Tanenbaum B, Miett T, Patel SA
Ann Hematol 2023 Jan;102(1):1-11. Epub 2022 Dec 3 doi: 10.1007/s00277-022-05058-5. PMID: 36462062Free 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
Scott K, Hayden PJ, Will A, Wheatley K, Coyne I
Cochrane Database Syst Rev 2016 Apr 20;4(4):CD010816. doi: 10.1002/14651858.CD010816.pub2. PMID: 27096326Free PMC Article
Gao M, Yang G, Kong Y, Wu X, Shi J
Biomed Res Int 2015;2015:623254. Epub 2015 Apr 27 doi: 10.1155/2015/623254. PMID: 26000300Free PMC Article
Kortuem KM, Stewart AK
Blood 2013 Feb 7;121(6):893-7. doi: 10.1182/blood-2012-10-459883. PMID: 23393020

Prognosis

Huang J, Chan SC, Lok V, Zhang L, Lucero-Prisno DE 3rd, Xu W, Zheng ZJ, Elcarte E, Withers M, Wong MCS; Non-communicable Disease Global Health Research Group, Association of Pacific Rim Universities
Lancet Haematol 2022 Sep;9(9):e670-e677. Epub 2022 Jul 14 doi: 10.1016/S2352-3026(22)00165-X. PMID: 35843248
Joseph NS, Kaufman JL, Dhodapkar MV, Hofmeister CC, Almaula DK, Heffner LT, Gupta VA, Boise LH, Lonial S, Nooka AK
J Clin Oncol 2020 Jun 10;38(17):1928-1937. Epub 2020 Apr 16 doi: 10.1200/JCO.19.02515. PMID: 32298201Free PMC Article
Bahlis NJ, Dimopoulos MA, White DJ, Benboubker L, Cook G, Leiba M, Ho PJ, Kim K, Takezako N, Moreau P, Kaufman JL, Krevvata M, Chiu C, Qin X, Okonkwo L, Trivedi S, Ukropec J, Qi M, San-Miguel J
Leukemia 2020 Jul;34(7):1875-1884. Epub 2020 Jan 30 doi: 10.1038/s41375-020-0711-6. PMID: 32001798Free PMC Article
Liu J, Liu W, Mi L, Zeng X, Cai C, Ma J, Wang L; Union for China Lymphoma Investigators of the Chinese Society of Clinical Oncology; Union for China Leukemia Investigators of the Chinese Society of Clinical Oncology
J Hematol Oncol 2019 Dec 10;12(1):136. doi: 10.1186/s13045-019-0807-5. PMID: 31823802Free PMC Article
Soteriades ES, Kim J, Christophi CA, Kales SN
Asian Pac J Cancer Prev 2019 Nov 1;20(11):3221-3231. doi: 10.31557/APJCP.2019.20.11.3221. PMID: 31759344Free PMC Article

Clinical prediction guides

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
Covut F, Ahmed R, Chawla S, Ricaurte F, Samaras CJ, Anwer F, Garcia AVM, Angelini DE, Mazzoni S, Faiman B, Valent J, Khouri J
Br J Haematol 2021 Jun;193(6):1213-1219. Epub 2021 May 17 doi: 10.1111/bjh.17505. PMID: 33997961
Sanfilippo KM, Luo S, Wang TF, Fiala M, Schoen M, Wildes TM, Mikhael J, Kuderer NM, Calverley DC, Keller J, Thomas T, Carson KR, Gage BF
Am J Hematol 2019 Nov;94(11):1176-1184. Epub 2019 Aug 19 doi: 10.1002/ajh.25603. PMID: 31379000Free 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

Wilson RB, Lathigara D, Kaushal D
Int J Mol Sci 2023 Mar 24;24(7) doi: 10.3390/ijms24076192. PMID: 37047163Free PMC Article
Minakata D, Fujiwara SI, Yokoyama D, Noguchi A, Aoe S, Oyama T, Koyama S, Murahashi R, Nakashima H, Hyodo K, Ikeda T, Kawaguchi SI, Toda Y, Ito S, Nagayama T, Mashima K, Umino K, Morita K, Ashizawa M, Yamamoto C, Hatano K, Sato K, Ohmine K, Kanda Y
Br J Haematol 2023 Mar;200(6):694-703. Epub 2023 Jan 20 doi: 10.1111/bjh.18654. PMID: 36661264
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
Scott K, Hayden PJ, Will A, Wheatley K, Coyne I
Cochrane Database Syst Rev 2016 Apr 20;4(4):CD010816. doi: 10.1002/14651858.CD010816.pub2. PMID: 27096326Free 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

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    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Multiple Myeloma, 2023

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