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Acute promyelocytic leukemia(APL)

MedGen UID:
44127
Concept ID:
C0023487
Neoplastic Process
Synonyms: APL
Modes of inheritance:
Somatic mutation
MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
Source: HPO
An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.
SNOMED CT: APL - Acute promyelocytic leukemia (110004001); M3 - Acute promyelocytic leukemia (110004001); APML - Acute promyelocytic leukemia (110004001); [M]Acute promyelocytic leukemia (28950004); Acute promyelocytic leukemia, t(15;17)(q22;q11-12) (28950004); Acute promyelocytic leukemia, PML/RAR-alpha (28950004); Acute myeloid leukemia, t(15;17)(q22;q11-12) (28950004); Acute myeloid leukemia, PML/RAR-alpha (28950004); Acute promyelocytic leukemia, FAB M3 (110004001); Acute promyelocytic leukemia (clinical) (110004001); Acute promyelocytic leukemia (28950004); FAB M3 (28950004)
 
Genes (locations): NUMA1 (11q13.4); RARA (17q21.2)
OMIM®: 612376
HPO: HP:0004836
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 GHR
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.  http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia

Clinical features

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).
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).
Abnormality of cells of the granulocytic lineage
MedGen UID:
868631
Concept ID:
C4023031
Anatomical Abnormality
An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.
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).

Term Hierarchy

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).

Recent clinical studies

Etiology

Lucena-Araujo AR, Kim HT, Thomé C, Jacomo RH, Melo RA, Bittencourt R, Pasquini R, Pagnano K, Glória AB, Chauffaille Mde L, Athayde M, Chiattone CS, Mito I, Bendlin R, Souza C, Bortolheiro C, Coelho-Silva JL, Schrier SL, Tallman MS, Grimwade D, Ganser A, Berliner N, Ribeiro RC, Lo-Coco F, Löwenberg B, Sanz MA, Rego EM
Blood 2015 Nov 12;126(20):2302-6. Epub 2015 Oct 1 doi: 10.1182/blood-2015-01-623330. [Epub ahead of print] PMID: 26429976Free PMC Article
Jiang H, Liang GW, Huang XJ, Jiang Q, Han S, Shi LW, Zhu HH
Leuk Res 2015 Dec;39(12):1319-24. Epub 2015 Sep 9 doi: 10.1016/j.leukres.2015.09.007. [Epub ahead of print] PMID: 26403986
Lou Y, Ma Y, Sun J, Ye X, Pan H, Wang Y, Qian W, Meng H, Mai W, He J, Tong H, Jin J
Ann Hematol 2015 Nov;94(11):1829-37. Epub 2015 Aug 22 doi: 10.1007/s00277-015-2477-x. [Epub ahead of print] PMID: 26294332
Lou Y, Ma Y, Suo S, Ni W, Wang Y, Pan H, Tong H, Qian W, Meng H, Mai W, Huang J, Yu W, Wei J, Mao L, Jin J
Leuk Res 2015 Sep;39(9):938-44. Epub 2015 Jul 2 doi: 10.1016/j.leukres.2015.05.016. [Epub ahead of print] PMID: 26183877
Braun T, Cereja S, Chevret S, Raffoux E, Beaumont M, Detourmignies L, Pigneux A, Thomas X, Bordessoule D, Guerci A, Lamy T, Recher C, Poiré X, Tournilhac O, Spertini O, Chomienne C, Degos L, Dombret H, Adès L, Fenaux P; French-Belgian-Swiss APL Group
Cancer 2015 Jul 15;121(14):2393-9. Epub 2015 Apr 6 doi: 10.1002/cncr.29389. [Epub ahead of print] PMID: 25845577

Diagnosis

Abrahão R, Ribeiro RC, Medeiros BC, Keogh RH, Keegan TH
Cancer 2015 Nov 15;121(22):3990-7. Epub 2015 Aug 11 doi: 10.1002/cncr.29631. [Epub ahead of print] PMID: 26264598Free PMC Article
Lou Y, Ma Y, Suo S, Ni W, Wang Y, Pan H, Tong H, Qian W, Meng H, Mai W, Huang J, Yu W, Wei J, Mao L, Jin J
Leuk Res 2015 Sep;39(9):938-44. Epub 2015 Jul 2 doi: 10.1016/j.leukres.2015.05.016. [Epub ahead of print] PMID: 26183877
Braun T, Cereja S, Chevret S, Raffoux E, Beaumont M, Detourmignies L, Pigneux A, Thomas X, Bordessoule D, Guerci A, Lamy T, Recher C, Poiré X, Tournilhac O, Spertini O, Chomienne C, Degos L, Dombret H, Adès L, Fenaux P; French-Belgian-Swiss APL Group
Cancer 2015 Jul 15;121(14):2393-9. Epub 2015 Apr 6 doi: 10.1002/cncr.29389. [Epub ahead of print] PMID: 25845577
Kolhe R, Mangaonkar A, Mansour J, Clemmons A, Shaw J, Dupont B, Walczak L, Mondal A, Rojiani A, Jillella A, Kota V
Int J Lab Hematol 2015 Aug;37(4):515-20. Epub 2015 Jan 14 doi: 10.1111/ijlh.12326. [Epub ahead of print] PMID: 25639817
Sui M, Zhang Z, Zhou J
Chin Med J (Engl) 2014;127(19):3503-6. PMID: 25269921

Therapy

Rawendra RD, Lin PY, Chang CD, Hsu JL, Huang TC, Shih WL
Anticancer Res 2015 Dec;35(12):6583-90. PMID: 26637873
Jiang H, Liang GW, Huang XJ, Jiang Q, Han S, Shi LW, Zhu HH
Leuk Res 2015 Dec;39(12):1319-24. Epub 2015 Sep 9 doi: 10.1016/j.leukres.2015.09.007. [Epub ahead of print] PMID: 26403986
Lou Y, Ma Y, Sun J, Ye X, Pan H, Wang Y, Qian W, Meng H, Mai W, He J, Tong H, Jin J
Ann Hematol 2015 Nov;94(11):1829-37. Epub 2015 Aug 22 doi: 10.1007/s00277-015-2477-x. [Epub ahead of print] PMID: 26294332
Adan A, Baran Y
Tumour Biol 2015 Nov;36(11):8973-84. Epub 2015 Jun 17 doi: 10.1007/s13277-015-3597-6. [Epub ahead of print] PMID: 26081618
Sui M, Zhang Z, Zhou J
Chin Med J (Engl) 2014;127(19):3503-6. PMID: 25269921

Prognosis

Lucena-Araujo AR, Kim HT, Thomé C, Jacomo RH, Melo RA, Bittencourt R, Pasquini R, Pagnano K, Glória AB, Chauffaille Mde L, Athayde M, Chiattone CS, Mito I, Bendlin R, Souza C, Bortolheiro C, Coelho-Silva JL, Schrier SL, Tallman MS, Grimwade D, Ganser A, Berliner N, Ribeiro RC, Lo-Coco F, Löwenberg B, Sanz MA, Rego EM
Blood 2015 Nov 12;126(20):2302-6. Epub 2015 Oct 1 doi: 10.1182/blood-2015-01-623330. [Epub ahead of print] PMID: 26429976Free PMC Article
Lou Y, Ma Y, Sun J, Ye X, Pan H, Wang Y, Qian W, Meng H, Mai W, He J, Tong H, Jin J
Ann Hematol 2015 Nov;94(11):1829-37. Epub 2015 Aug 22 doi: 10.1007/s00277-015-2477-x. [Epub ahead of print] PMID: 26294332
Lou Y, Ma Y, Suo S, Ni W, Wang Y, Pan H, Tong H, Qian W, Meng H, Mai W, Huang J, Yu W, Wei J, Mao L, Jin J
Leuk Res 2015 Sep;39(9):938-44. Epub 2015 Jul 2 doi: 10.1016/j.leukres.2015.05.016. [Epub ahead of print] PMID: 26183877
Albano F, Zagaria A, Anelli L, Coccaro N, Tota G, Brunetti C, Minervini CF, Impera L, Minervini A, Cellamare A, Orsini P, Cumbo C, Casieri P, Specchia G
Oncotarget 2015 May 30;6(15):13269-77. doi: 10.18632/oncotarget.3773. PMID: 25944686Free PMC Article
Braun T, Cereja S, Chevret S, Raffoux E, Beaumont M, Detourmignies L, Pigneux A, Thomas X, Bordessoule D, Guerci A, Lamy T, Recher C, Poiré X, Tournilhac O, Spertini O, Chomienne C, Degos L, Dombret H, Adès L, Fenaux P; French-Belgian-Swiss APL Group
Cancer 2015 Jul 15;121(14):2393-9. Epub 2015 Apr 6 doi: 10.1002/cncr.29389. [Epub ahead of print] PMID: 25845577

Clinical prediction guides

Zassadowski F, Pokorna K, Ferre N, Guidez F, Llopis L, Chourbagi O, Chopin M, Poupon J, Fenaux P, Ann Padua R, Pla M, Chomienne C, Cassinat B
Leukemia 2015 Dec;29(12):2277-84. Epub 2015 Jun 25 doi: 10.1038/leu.2015.159. [Epub ahead of print] PMID: 26108692
Zhang YC, Zhou YQ, Yan B, Shi J, Xiu LJ, Sun YW, Liu X, Qin ZF, Wei PK, Li YJ
World J Gastroenterol 2015 Apr 14;21(14):4402-7. doi: 10.3748/wjg.v21.i14.4402. PMID: 25892894Free PMC Article
Mitrovic M, Suvajdzic N, Elezovic I, Bogdanovic A, Djordjevic V, Miljic P, Djunic I, Gvozdenov M, Colovic N, Virijevic M, Lekovic D, Vidovic A, Tomin D
Thromb Res 2015 Apr;135(4):588-93. Epub 2014 Dec 4 doi: 10.1016/j.thromres.2014.11.026. [Epub ahead of print] PMID: 25528069
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. [Epub ahead of print] PMID: 25445717Free PMC Article
Fisher BT, Singh S, Huang YS, Li Y, Gregory J, Walker D, Seif AE, Kavcic M, Aplenc R
Pediatr Blood Cancer 2014 Jan;61(1):68-73. Epub 2013 Jul 18 doi: 10.1002/pbc.24585. [Epub ahead of print] PMID: 23868668Free PMC Article

Recent systematic reviews

Ma H, Yang J
Acta Haematol 2015;134(2):101-8. Epub 2015 Apr 22 doi: 10.1159/000369242. [Epub ahead of print] PMID: 25925330
Sui M, Zhang Z, Zhou J
Chin Med J (Engl) 2014;127(19):3503-6. PMID: 25269921
Chen L, Wang J, Hu X, Xu X
Hematology 2014 Jun;19(4):202-7. Epub 2013 Nov 25 doi: 10.1179/1607845413Y.0000000118. [Epub ahead of print] PMID: 24074286
Rashidi A, Fisher SI
Med Oncol 2013;30(3):625. Epub 2013 Jun 15 doi: 10.1007/s12032-013-0625-5. [Epub ahead of print] PMID: 23771799
Muchtar E, Vidal L, Ram R, Gafter-Gvili A, Shpilberg O, Raanani P
Cochrane Database Syst Rev 2013 Mar 28;3:CD009594. doi: 10.1002/14651858.CD009594.pub2. PMID: 23543579

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