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Acute promyelocytic leukemia(APL)

MedGen UID:
44127
Concept ID:
C0023487
Neoplastic Process
Synonym: APL
SNOMED CT: APL - Acute promyelocytic leukemia (110004001); M3 - Acute promyelocytic leukemia (110004001); APML - Acute promyelocytic leukemia (110004001); Acute promyelocytic leukemia, FAB M3 (110004001); Acute promyelocytic leukemia (clinical) (110004001); Acute promyelocytic leukemia (28950004); Acute promyelocytic leukemia with PML::RARA fusion (28950004); Acute promyelocytic leukemia with t(15;17)(q24.1;q21.2) (28950004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Genes (locations): NUMA1 (11q13.4); RARA (17q21.2)
 
HPO: HP:0004836
Monarch Initiative: MONDO:0012883
OMIM®: 612376
Orphanet: ORPHA520

Definition

Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007). [from OMIM]

Additional description

From MedlinePlus Genetics
Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition.

People with acute promyelocytic leukemia are especially susceptible to developing bruises, small red dots under the skin (petechiae), nosebleeds, bleeding from the gums, blood in the urine (hematuria), or excessive menstrual bleeding. The abnormal bleeding and bruising occur in part because of the low number of platelets in the blood (thrombocytopenia) and also because the cancerous cells release substances that cause excessive bleeding.

The low number of red blood cells (anemia) can cause people with acute promyelocytic leukemia to have pale skin (pallor) or excessive tiredness (fatigue). In addition, affected individuals may heal slowly from injuries or have frequent infections due to the loss of normal white blood cells that fight infection. Furthermore, the leukemic cells can spread to the bones and joints, which may cause pain in those areas. Other general signs and symptoms may occur as well, such as fever, loss of appetite, and weight loss.

Acute promyelocytic leukemia is most often diagnosed around age 40, although it can be diagnosed at any age.  https://medlineplus.gov/genetics/condition/acute-promyelocytic-leukemia

Clinical features

From HPO
Acute promyelocytic leukemia
MedGen UID:
44127
Concept ID:
C0023487
Neoplastic Process
Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007).
Abnormal granulocytopoietic cell morphology
MedGen UID:
868631
Concept ID:
C4023031
Finding
An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.

Conditions with this feature

Acute promyelocytic leukemia
MedGen UID:
44127
Concept ID:
C0023487
Neoplastic Process
Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007).

Professional guidelines

PubMed

Yilmaz M, Kantarjian H, Ravandi F
Blood Cancer J 2021 Jun 30;11(6):123. doi: 10.1038/s41408-021-00514-3. PMID: 34193815Free PMC Article
Pollyea DA, Bixby D, Perl A, Bhatt VR, Altman JK, Appelbaum FR, de Lima M, Fathi AT, Foran JM, Gojo I, Hall AC, Jacoby M, Lancet J, Mannis G, Marcucci G, Martin MG, Mims A, Neff J, Nejati R, Olin R, Percival ME, Prebet T, Przespolewski A, Rao D, Ravandi-Kashani F, Shami PJ, Stone RM, Strickland SA, Sweet K, Vachhani P, Wieduwilt M, Gregory KM, Ogba N, Tallman MS
J Natl Compr Canc Netw 2021 Jan 6;19(1):16-27. doi: 10.6004/jnccn.2021.0002. PMID: 33406488
Sanz MA, Fenaux P, Tallman MS, Estey EH, Löwenberg B, Naoe T, Lengfelder E, Döhner H, Burnett AK, Chen SJ, Mathews V, Iland H, Rego E, Kantarjian H, Adès L, Avvisati G, Montesinos P, Platzbecker U, Ravandi F, Russell NH, Lo-Coco F
Blood 2019 Apr 11;133(15):1630-1643. Epub 2019 Feb 25 doi: 10.1182/blood-2019-01-894980. PMID: 30803991Free PMC Article

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Acute Myeloid Leukemia, 2023

DailyMed Drug Label, TRISENOX, 2021

Recent clinical studies

Etiology

Korsos V, Miller WH Jr
J Mol Endocrinol 2022 Nov 1;69(4):T69-T83. Epub 2022 Oct 11 doi: 10.1530/JME-22-0141. PMID: 36112505
Salhotra A, Mei M
Cancer Treat Res 2021;181:45-55. doi: 10.1007/978-3-030-78311-2_3. PMID: 34626354
Naymagon L, Mascarenhas J
Leuk Res 2020 Jul;94:106356. Epub 2020 May 11 doi: 10.1016/j.leukres.2020.106356. PMID: 32445941
Iland HJ
Semin Hematol 2019 Apr;56(2):131-138. Epub 2018 Aug 23 doi: 10.1053/j.seminhematol.2018.07.004. PMID: 30926089
Sanz MA, Grimwade D, Tallman MS, Lowenberg B, Fenaux P, Estey EH, Naoe T, Lengfelder E, Büchner T, Döhner H, Burnett AK, Lo-Coco F
Blood 2009 Feb 26;113(9):1875-91. Epub 2008 Sep 23 doi: 10.1182/blood-2008-04-150250. PMID: 18812465

Diagnosis

Fang H, Wang SA, Hu S, Konoplev SN, Mo H, Liu W, Zuo Z, Xu J, Jorgensen JL, Yin CC, El Hussein S, Jelloul FZ, Tang Z, Medeiros LJ, Wang W
Cytometry B Clin Cytom 2022 Jul;102(4):283-291. Epub 2022 Jun 18 doi: 10.1002/cyto.b.22085. PMID: 35716019
Salhotra A, Mei M
Cancer Treat Res 2021;181:45-55. doi: 10.1007/978-3-030-78311-2_3. PMID: 34626354
Yilmaz M, Kantarjian H, Ravandi F
Blood Cancer J 2021 Jun 30;11(6):123. doi: 10.1038/s41408-021-00514-3. PMID: 34193815Free PMC Article
Stein EM, Tallman MS
Acta Haematol 2014;132(3-4):307-12. Epub 2014 Sep 10 doi: 10.1159/000365117. PMID: 25228556
Sanz MA, Grimwade D, Tallman MS, Lowenberg B, Fenaux P, Estey EH, Naoe T, Lengfelder E, Büchner T, Döhner H, Burnett AK, Lo-Coco F
Blood 2009 Feb 26;113(9):1875-91. Epub 2008 Sep 23 doi: 10.1182/blood-2008-04-150250. PMID: 18812465

Therapy

Yanada M
Ann Hematol 2022 Dec;101(12):2575-2582. Epub 2022 Aug 16 doi: 10.1007/s00277-022-04954-0. PMID: 35972562
Burnett AK, Russell NH, Hills RK, Bowen D, Kell J, Knapper S, Morgan YG, Lok J, Grech A, Jones G, Khwaja A, Friis L, McMullin MF, Hunter A, Clark RE, Grimwade D; UK National Cancer Research Institute Acute Myeloid Leukaemia Working Group
Lancet Oncol 2015 Oct;16(13):1295-305. Epub 2015 Sep 14 doi: 10.1016/S1470-2045(15)00193-X. PMID: 26384238
Lo-Coco F, Avvisati G, Vignetti M, Thiede C, Orlando SM, Iacobelli S, Ferrara F, Fazi P, Cicconi L, Di Bona E, Specchia G, Sica S, Divona M, Levis A, Fiedler W, Cerqui E, Breccia M, Fioritoni G, Salih HR, Cazzola M, Melillo L, Carella AM, Brandts CH, Morra E, von Lilienfeld-Toal M, Hertenstein B, Wattad M, Lübbert M, Hänel M, Schmitz N, Link H, Kropp MG, Rambaldi A, La Nasa G, Luppi M, Ciceri F, Finizio O, Venditti A, Fabbiano F, Döhner K, Sauer M, Ganser A, Amadori S, Mandelli F, Döhner H, Ehninger G, Schlenk RF, Platzbecker U; Gruppo Italiano Malattie Ematologiche dell'Adulto; German-Austrian Acute Myeloid Leukemia Study Group; Study Alliance Leukemia
N Engl J Med 2013 Jul 11;369(2):111-21. doi: 10.1056/NEJMoa1300874. PMID: 23841729
Iland HJ, Bradstock K, Supple SG, Catalano A, Collins M, Hertzberg M, Browett P, Grigg A, Firkin F, Hugman A, Reynolds J, Di Iulio J, Tiley C, Taylor K, Filshie R, Seldon M, Taper J, Szer J, Moore J, Bashford J, Seymour JF; Australasian Leukaemia and Lymphoma Group
Blood 2012 Aug 23;120(8):1570-80; quiz 1752. Epub 2012 Jun 19 doi: 10.1182/blood-2012-02-410746. PMID: 22715121
Miwako I, Kagechika H
Drugs Today (Barc) 2007 Aug;43(8):563-8. doi: 10.1358/dot.2007.43.8.1072615. PMID: 17925887

Prognosis

Kantarjian HM, Kadia TM, DiNardo CD, Welch MA, Ravandi F
Cancer 2021 Apr 15;127(8):1186-1207. Epub 2021 Mar 18 doi: 10.1002/cncr.33477. PMID: 33734442
Abaza Y, Kantarjian H, Garcia-Manero G, Estey E, Borthakur G, Jabbour E, Faderl S, O'Brien S, Wierda W, Pierce S, Brandt M, McCue D, Luthra R, Patel K, Kornblau S, Kadia T, Daver N, DiNardo C, Jain N, Verstovsek S, Ferrajoli A, Andreeff M, Konopleva M, Estrov Z, Foudray M, McCue D, Cortes J, Ravandi F
Blood 2017 Mar 9;129(10):1275-1283. Epub 2016 Dec 21 doi: 10.1182/blood-2016-09-736686. PMID: 28003274Free PMC Article
Stein EM, Tallman MS
Acta Haematol 2014;132(3-4):307-12. Epub 2014 Sep 10 doi: 10.1159/000365117. PMID: 25228556
Deschler B, Lübbert M
Cancer 2006 Nov 1;107(9):2099-107. doi: 10.1002/cncr.22233. PMID: 17019734
Douer D
Curr Treat Options Oncol 2000 Apr;1(1):31-40. doi: 10.1007/s11864-000-0013-1. PMID: 12057059

Clinical prediction guides

Khan ER, Islam A, Jamal CY, Karim MA, Rahman AA, Hafiz MG, Khaleque A
Pediatr Hematol Oncol 2022 Aug;39(5):406-417. Epub 2022 Jan 5 doi: 10.1080/08880018.2021.2002486. PMID: 34986070
Geoffroy MC, Esnault C, de Thé H
Blood 2021 May 6;137(18):2429-2437. doi: 10.1182/blood.2020010100. PMID: 33651885
Naymagon L, Mascarenhas J
Leuk Res 2020 Jul;94:106356. Epub 2020 May 11 doi: 10.1016/j.leukres.2020.106356. PMID: 32445941
Zhang L, Samad A, Pombo-de-Oliveira MS, Scelo G, Smith MT, Feusner J, Wiemels JL, Metayer C
Blood Rev 2015 Mar;29(2):101-25. Epub 2014 Sep 30 doi: 10.1016/j.blre.2014.09.013. PMID: 25445717Free PMC Article
Stein EM, Tallman MS
Oncology (Williston Park) 2012 Jul;26(7):636-41. PMID: 22888564Free PMC Article

Recent systematic reviews

Bønløkke ST, Ommen HB, Hvas AM
Semin Thromb Hemost 2021 Jul;47(5):569-580. Epub 2021 May 31 doi: 10.1055/s-0041-1725099. PMID: 34058766
Ahrari A, Al-Ani F, Wang YP, Lazo-Langner A
Thromb Res 2019 Jun;178:1-6. Epub 2019 Mar 20 doi: 10.1016/j.thromres.2019.03.014. PMID: 30921533
Verma V, Giri S, Manandhar S, Pathak R, Bhatt VR
Leuk Lymphoma 2016;57(3):616-22. Epub 2015 Jul 28 doi: 10.3109/10428194.2015.1065977. PMID: 26110880
Martí-Carvajal AJ, Anand V, Solà I
Cochrane Database Syst Rev 2015 Jun 24;2015(6):CD008562. doi: 10.1002/14651858.CD008562.pub3. PMID: 26107113Free PMC Article
Rashidi A, Fisher SI
Med Oncol 2013;30(3):625. Epub 2013 Jun 15 doi: 10.1007/s12032-013-0625-5. PMID: 23771799

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