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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 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
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, 2024

Recent clinical studies

Etiology

Keam SJ
Drugs 2023 Oct;83(15):1439-1445. doi: 10.1007/s40265-023-01945-x. PMID: 37792138
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

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
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
Am Fam Physician 2017 Mar 15;95(6):Online. PMID: 28318218

Therapy

Ghobrial IM, Gormley N, Kumar SK, Mateos MV, Bergsagel PL, Chesi M, Dhodapkar MV, Dispenzieri A, Fonseca R, Getz G, Kastritis E, Kristinsson SY, Martinez-Climent JA, Manier S, Marinac CR, Maura F, Morgan GJ, Davies FE, Nadeem O, Nuvolone M, Paiva B, O'Donnell E, Prosper F, Shah UA, Sklavenitis-Pistofidis R, Sperling AS, Vassiliou GS, Munshi NC, Castle PE, Anderson KC, San Miguel JF
Blood Cancer Discov 2024 May 1;5(3):146-152. doi: 10.1158/2643-3230.BCD-24-0022. PMID: 38441243Free PMC Article
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
Mikhael J, Ismaila N, Cheung MC, Costello C, Dhodapkar MV, Kumar S, Lacy M, Lipe B, Little RF, Nikonova A, Omel J, Peswani N, Prica A, Raje N, Seth R, Vesole DH, Walker I, Whitley A, Wildes TM, Wong SW, Martin T
J Clin Oncol 2019 May 10;37(14):1228-1263. Epub 2019 Apr 1 doi: 10.1200/JCO.18.02096. PMID: 30932732
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
Rajkumar SV
Curr Probl Cancer 2009 Jan-Feb;33(1):7-64. doi: 10.1016/j.currproblcancer.2009.01.001. PMID: 19254626Free PMC Article

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
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
Bringhen S, Mina R, Cafro AM, Liberati AM, Spada S, Belotti A, Gaidano G, Patriarca F, Troia R, Fanin R, De Paoli L, Rossi G, Lombardo A, Bertazzoni P, Palumbo A, Sonneveld P, Boccadoro M
Leukemia 2018 Aug;32(8):1803-1807. Epub 2018 Jan 30 doi: 10.1038/s41375-018-0024-1. PMID: 29479061
Persaud H
JAAPA 2015 Jul;28(7):47-8. doi: 10.1097/01.JAA.0000466597.15540.54. PMID: 26107796

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
Palumbo A, Bringhen S, Mateos MV, Larocca A, Facon T, Kumar SK, Offidani M, McCarthy P, Evangelista A, Lonial S, Zweegman S, Musto P, Terpos E, Belch A, Hajek R, Ludwig H, Stewart AK, Moreau P, Anderson K, Einsele H, Durie BG, Dimopoulos MA, Landgren O, San Miguel JF, Richardson P, Sonneveld P, Rajkumar SV
Blood 2015 Mar 26;125(13):2068-74. Epub 2015 Jan 27 doi: 10.1182/blood-2014-12-615187. PMID: 25628469Free 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

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
Reynolds G, Cliff ERS, Mohyuddin GR, Popat R, Midha S, Liet Hing MN, Harrison SJ, Kesselheim AS, Teh BW
Blood Adv 2023 Oct 10;7(19):5898-5903. doi: 10.1182/bloodadvances.2023010539. PMID: 37467036Free 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
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

Supplemental Content

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    Curated

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

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