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Multiple myeloma(MM)

MedGen UID:
10122
Concept ID:
C0026764
Neoplastic Process
Synonyms: Familial Myeloma; Kahler disease; Kahler's disease; MM; Multiple myeloma, somatic; Myelomatosis; Plasma cell dyscrasia; Plasma cell myeloma; Plasmocytoma
SNOMED CT: Multiple myeloma (clinical) (109989006); Multiple myeloma, no ICD-O subtype (55921005); Multiple myeloma, no International Classification of Diseases for Oncology subtype (55921005); Plasmacytic myeloma (109989006); Kahler's disease (109989006); Myelomatosis (109989006); Multiple myeloma (109989006); Myeloma (109989006); Multiple myeloma (55921005); Myelomatosis (55921005); Plasma cell myeloma (55921005); Myeloma (55921005)
Modes of inheritance:
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Sources: HPO, OMIM
A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
Somatic mutation (HPO, OMIM)
 
Genes (locations): CCND1 (11q13.3); LIG4 (13q33.3)
 
HPO: HP:0006775
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.\n\nMultiple 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.\n\nThe 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.\n\nPeople 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).
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
A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Paraproteinemias may be seen in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. --2004
Paraproteinemia
MedGen UID:
10577
Concept ID:
C0030489
Disease or Syndrome
A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Paraproteinemias may be seen in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. --2004
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.
Paraproteinemia
MedGen UID:
10577
Concept ID:
C0030489
Disease or Syndrome
A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Paraproteinemias may be seen in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. --2004
Paraproteinemia
MedGen UID:
10577
Concept ID:
C0030489
Disease or Syndrome
A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Paraproteinemias may be seen in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. --2004

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.

Recent clinical studies

Etiology

Vozella F, Siniscalchi A, Rizzo M, Za T, Antolino G, Coppetelli U, Piciocchi A, Andriani A, Annibali O, De Rosa L, Cimino G, La Verde G, De Stefano V, Cantonetti M, di Toritto TC, Petrucci MT
Ann Hematol 2021 Apr;100(4):1059-1063. Epub 2021 Feb 2 doi: 10.1007/s00277-020-04374-y. PMID: 33528611
Grant SJ, Mian HS, Giri S, Boutin M, Dottorini L, Neuendorff NR, Krok-Schoen JL, Nikita N, Rosko AE, Wildes TM, Zweegman S
J Geriatr Oncol 2021 May;12(4):499-507. Epub 2020 Dec 17 doi: 10.1016/j.jgo.2020.12.001. PMID: 33342724Free PMC Article
Mireles-Cano JN, Escoto-Venegas E, García-González OG, Miranda-González A, González-Ramírez J, Hernández-Sepúlveda E, Martínez-Pérez R
Acta Ortop Mex 2020 Sep-Oct;34(5):293-297. PMID: 33634632
Kondo M, Hotta Y, Yamauchi K, Sanagawa A, Komatsu H, Iida S, Kimura K
BMC Cancer 2020 Nov 17;20(1):1117. doi: 10.1186/s12885-020-07592-9. PMID: 33203424Free PMC Article
Janicki P, Niemczyk S
Pol Merkur Lekarski 2020 Oct 23;48(287):344-345. PMID: 33130796

Diagnosis

Hosoya H, Sidana S
Curr Hematol Malig Rep 2021 Apr;16(2):183-191. Epub 2021 Mar 17 doi: 10.1007/s11899-021-00624-6. PMID: 33730360
LeBlanc MR, LeBlanc TW, Leak Bryant A, Pollak KI, Bailey DE, Smith SK
Oncol Nurs Forum 2021 Mar 1;48(2):151-160. doi: 10.1188/21.ONF.151-160. PMID: 33600390Free PMC Article
Grant SJ, Mian HS, Giri S, Boutin M, Dottorini L, Neuendorff NR, Krok-Schoen JL, Nikita N, Rosko AE, Wildes TM, Zweegman S
J Geriatr Oncol 2021 May;12(4):499-507. Epub 2020 Dec 17 doi: 10.1016/j.jgo.2020.12.001. PMID: 33342724Free PMC Article
Richardson PG, Beksaç M, Špička I, Mikhael J
Expert Opin Biol Ther 2020 Dec;20(12):1395-1404. doi: 10.1080/14712598.2021.1841747. PMID: 33111607
Hultcrantz M, Yellapantula V, Rustad EH
Best Pract Res Clin Haematol 2020 Mar;33(1):101153. Epub 2020 Jan 27 doi: 10.1016/j.beha.2020.101153. PMID: 32139018

Therapy

Hosoya H, Sidana S
Curr Hematol Malig Rep 2021 Apr;16(2):183-191. Epub 2021 Mar 17 doi: 10.1007/s11899-021-00624-6. PMID: 33730360
Vozella F, Siniscalchi A, Rizzo M, Za T, Antolino G, Coppetelli U, Piciocchi A, Andriani A, Annibali O, De Rosa L, Cimino G, La Verde G, De Stefano V, Cantonetti M, di Toritto TC, Petrucci MT
Ann Hematol 2021 Apr;100(4):1059-1063. Epub 2021 Feb 2 doi: 10.1007/s00277-020-04374-y. PMID: 33528611
Kondo M, Hotta Y, Yamauchi K, Sanagawa A, Komatsu H, Iida S, Kimura K
BMC Cancer 2020 Nov 17;20(1):1117. doi: 10.1186/s12885-020-07592-9. PMID: 33203424Free PMC Article
Richardson PG, Beksaç M, Špička I, Mikhael J
Expert Opin Biol Ther 2020 Dec;20(12):1395-1404. doi: 10.1080/14712598.2021.1841747. PMID: 33111607
Cosialls AM, Sánchez-Vera I, Pomares H, Perramon-Andújar J, Sanchez-Esteban S, Palmeri CM, Iglesias-Serret D, Saura-Esteller J, Núñez-Vázquez S, Lavilla R, González-Barca EM, Pons G, Gil J
Biochem Pharmacol 2020 Oct;180:114198. Epub 2020 Aug 13 doi: 10.1016/j.bcp.2020.114198. PMID: 32798467

Prognosis

Jasiński M, Basak GW, Jedrzejczak WW
Front Immunol 2021;12:632937. Epub 2021 Feb 24 doi: 10.3389/fimmu.2021.632937. PMID: 33717171Free PMC Article
Grant SJ, Mian HS, Giri S, Boutin M, Dottorini L, Neuendorff NR, Krok-Schoen JL, Nikita N, Rosko AE, Wildes TM, Zweegman S
J Geriatr Oncol 2021 May;12(4):499-507. Epub 2020 Dec 17 doi: 10.1016/j.jgo.2020.12.001. PMID: 33342724Free PMC Article
Jiang Y, Zhang J, Zhang C, Hong L, Jiang Y, Lu L, Huang H, Guo D
Hematology 2020 Dec;25(1):457-463. doi: 10.1080/16078454.2020.1850973. PMID: 33250014
Kondo M, Hotta Y, Yamauchi K, Sanagawa A, Komatsu H, Iida S, Kimura K
BMC Cancer 2020 Nov 17;20(1):1117. doi: 10.1186/s12885-020-07592-9. PMID: 33203424Free PMC Article
Di L, Huang K, Kesayan T, Kroll D, Baz RC, Macaulay RJ, Tran ND
J Med Case Rep 2020 Oct 16;14(1):189. doi: 10.1186/s13256-020-02496-5. PMID: 33059729Free PMC Article

Clinical prediction guides

Lin ZS, Qin AB, Wang SX, Yu XJ, Dong B, Xiong ZY, Chen MH, Zhou FD, Zhao MH
J Nephrol 2021 Aug;34(4):1169-1177. Epub 2021 Jan 4 doi: 10.1007/s40620-020-00926-7. PMID: 33394345
Grant SJ, Mian HS, Giri S, Boutin M, Dottorini L, Neuendorff NR, Krok-Schoen JL, Nikita N, Rosko AE, Wildes TM, Zweegman S
J Geriatr Oncol 2021 May;12(4):499-507. Epub 2020 Dec 17 doi: 10.1016/j.jgo.2020.12.001. PMID: 33342724Free PMC Article
Di L, Huang K, Kesayan T, Kroll D, Baz RC, Macaulay RJ, Tran ND
J Med Case Rep 2020 Oct 16;14(1):189. doi: 10.1186/s13256-020-02496-5. PMID: 33059729Free PMC Article
Schinke M, Ihorst G, Duyster J, Wäsch R, Schumacher M, Engelhardt M
Cancer 2020 Aug 1;126(15):3504-3515. Epub 2020 May 27 doi: 10.1002/cncr.32978. PMID: 32459378
Mason MJ, Schinke C, Eng CLP, Towfic F, Gruber F, Dervan A, White BS, Pratapa A, Guan Y, Chen H, Cui Y, Li B, Yu T, Chaibub Neto E, Mavrommatis K, Ortiz M, Lyzogubov V, Bisht K, Dai HY, Schmitz F, Flynt E, Dan Rozelle, Danziger SA, Ratushny A; Multiple Myeloma DREAM Consortium., Dalton WS, Goldschmidt H, Avet-Loiseau H, Samur M, Hayete B, Sonneveld P, Shain KH, Munshi N, Auclair D, Hose D, Morgan G, Trotter M, Bassett D, Goke J, Walker BA, Thakurta A, Guinney J
Leukemia 2020 Jul;34(7):1866-1874. Epub 2020 Feb 14 doi: 10.1038/s41375-020-0742-z. PMID: 32060406Free PMC Article

Recent systematic reviews

Mohyuddin GR, Koehn K, Sborov D, McClune B, Abdallah AO, Goodman AM, Prasad V
Lancet Haematol 2021 Apr;8(4):e299-e304. doi: 10.1016/S2352-3026(21)00024-7. PMID: 33770485
Mohyuddin GR, Koehn K, Abdallah AO, W Sborov D, Rajkumar SV, Kumar S, McClune B
Am J Hematol 2021 Jun 1;96(6):690-697. Epub 2021 Apr 1 doi: 10.1002/ajh.26166. PMID: 33735453
Arcuri LJ, Americo AD
Ann Hematol 2021 Mar;100(3):725-734. Epub 2021 Jan 11 doi: 10.1007/s00277-021-04404-3. PMID: 33432438
Parrondo RD, Reljic T, Iqbal M, Ayala E, Kharfan-Dabaja MA, Kumar A, Murthy HS
Eur J Haematol 2021 Jan;106(1):40-48. Epub 2020 Oct 16 doi: 10.1111/ejh.13506. PMID: 32799387
Roex G, Timmers M, Wouters K, Campillo-Davo D, Flumens D, Schroyens W, Chu Y, Berneman ZN, Lion E, Luo F, Anguille S
J Hematol Oncol 2020 Dec 3;13(1):164. doi: 10.1186/s13045-020-01001-1. PMID: 33272302Free PMC Article

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