Acute promyelocytic leukemia causes: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Acute promyelocytic leukemia}} | {{Acute promyelocytic leukemia}} | ||
{{CMG}} {{shyam}} | {{CMG}} {{shyam}} {{AE}} {{S.G.}}; {{GRR}} {{Nat}} | ||
==Overview== | ==Overview== | ||
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==Acute promyelocytic leukemia causes== | ==Acute promyelocytic leukemia causes== | ||
*'''Benzene''': [[Benzene]] is a [[chemical]] [[liquid]] [[chemical]] with a [[sweet]] odor | *'''Benzene''': [[Benzene]] is a [[chemical]] [[liquid]] [[chemical]] with a [[sweet]] odor that is used in a variety of products, including heaters and other appliances. This [[chemical]] is a known cause of [[acute myeloid leukemia]]. In general, [[benzene]] exposure accounts for a very small [[Fraction (chemistry)|fraction]] of acute promyelocytic leukemia, since most cases are sporadic.<ref name="pmid24495159">{{cite journal| author=Greim H, Kaden DA, Larson RA, Palermo CM, Rice JM, Ross D et al.| title=The bone marrow niche, stem cells, and leukemia: impact of drugs, chemicals, and the environment. | journal=Ann N Y Acad Sci | year= 2014 | volume= 1310 | issue= | pages= 7-31 | pmid=24495159 | doi=10.1111/nyas.12362 | pmc=4002179 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24495159 }} </ref><ref name="ZhangSamad2015">{{cite journal|last1=Zhang|first1=L.|last2=Samad|first2=A.|last3=Pombo-de-Oliveira|first3=M.S.|last4=Scelo|first4=G.|last5=Smith|first5=M.T.|last6=Feusner|first6=J.|last7=Wiemels|first7=J.L.|last8=Metayer|first8=C.|title=Global characteristics of childhood acute promyelocytic leukemia|journal=Blood Reviews|volume=29|issue=2|year=2015|pages=101–125|issn=0268960X|doi=10.1016/j.blre.2014.09.013}}</ref> | ||
*'''Radiation''': [[Ionizing radiation]] is a known cause of acute leukemia of [[myeloid]] [[origin]]. [[Radiation]] inducing [[DNA]] damage can result in leukemia. In general, ionizing radiation accounts for a very small fraction of acute promyelocytic leukemia, since most cases are sporadic.<ref name="pmid24495159" /> | |||
*''' | |||
*'''Alkylating agents''': [[Chemotherapy agent|Chemotherapy agents]] that function via [[DNA]] [[alkylation]] are known to contribute to [[acute promyelocytic leukemia]]. [[Alkylating agent|Alkylating agents]] include [[nitrogen]] [[Mustard gas|mustards]] such as: [[carmustine]] ([[BCNU]]), [[lomustine]] ([[CCNU]]), and [[cyclophosphamide]]. Alkylating agents typically cause late-onset [[leukemia]], which is the latency between the exposure to the alkylating agent and the diagnosis of [[leukemia]], usually 5-7 years. There is frequently an [[Antecedent (logic)|antecedent]] [[myelodysplastic]] phase (a [[precursor]] state of [[acute leukemia]]).<ref name="CasorelliBossa2012">{{cite journal|last1=Casorelli|first1=Ida|last2=Bossa|first2=Cecilia|last3=Bignami|first3=Margherita|title=DNA Damage and Repair in Human Cancer: Molecular Mechanisms and Contribution to Therapy-Related Leukemias|journal=International Journal of Environmental Research and Public Health|volume=9|issue=8|year=2012|pages=2636–2657|issn=1660-4601|doi=10.3390/ijerph9082636}}</ref><ref name="ValentiniFianchi2011">{{cite journal|last1=Valentini|first1=Caterina Giovanna|last2=Fianchi|first2=Luana|last3=Voso|first3=Maria Teresa|last4=Caira|first4=Morena|last5=Leone|first5=Giuseppe|last6=Pagano|first6=Livio|title=INCIDENCE OF ACUTE MYELOID LEUKEMIA AFTER BREAST CANCER|journal=Mediterranean Journal of Hematology and Infectious Diseases|volume=3|issue=1|year=2011|pages=e2011069|issn=2035-3006|doi=10.4084/mjhid.2011.069}}</ref> | |||
*'''Topoisomerase II inhibitors''': [[Chemotherapy agent|Chemotherapy agents]] that function via [[inhibition]] of [[topoisomerase II]] are known to contribute to [[acute promyelocytic leukemia]]. Topoisomerase II inhibitors include [[Anthracycline|anthracyclines]], [[etoposide]] ([[Etoposide|VP-16]]), and [[topotecan]]. Topoisomerase II inhibitors typically cause early-onset [[leukemia]]: the latency between the exposure to the topoisomerase II inhibitor and the [[diagnosis]] of [[leukemia]] is usually 2-3 years. These are usually associated with the ''[[MLL (gene)|MLL]]'' [[rearrangement]] on chromosome 11q23.<ref name="Felix2001">{{cite journal|last1=Felix|first1=Carolyn A.|title=Leukemias related to treatment with DNA topoisomerase II inhibitors|journal=Medical and Pediatric Oncology|volume=36|issue=5|year=2001|pages=525–535|issn=0098-1532|doi=10.1002/mpo.1125}}</ref><ref name="PendletonLindsey2014">{{cite journal|last1=Pendleton|first1=MaryJean|last2=Lindsey|first2=R. Hunter|last3=Felix|first3=Carolyn A.|last4=Grimwade|first4=David|last5=Osheroff|first5=Neil|title=Topoisomerase II and leukemia|journal=Annals of the New York Academy of Sciences|volume=1310|issue=1|year=2014|pages=98–110|issn=00778923|doi=10.1111/nyas.12358}}</ref> | |||
*'''Specific gene mutations''': In rare cases, [[Acute (medicine)|acute]] [[leukemia]] can arise in the setting of [[Mutation|mutations.]] Most of these mutations are located in genes involved in [[Epigenetics|epigenetic]] [[Regulation of gene expression|regulation]]. Such genes include ''TET2'', ''DNMT3A'', ''[[ASXL1]]'', and ''[[EZH2]]''. In addition to these, mutations in [[metabolic]] [[enzymes]], such as ''[[IDH2]]'' can contribute. These mutations are more common in [[acute myeloid leukemia]] compared to [[acute promyelocytic leukemia]]. Mutations can also occur in [[RNA splicing]] genes.<ref name="LarssonCote20132">{{cite journal|last1=Larsson|first1=Connie A.|last2=Cote|first2=Gilbert|last3=Quintás-Cardama|first3=Alfonso|title=The Changing Mutational Landscape of Acute Myeloid Leukemia and Myelodysplastic Syndrome|journal=Molecular Cancer Research|volume=11|issue=8|year=2013|pages=815–827|issn=1541-7786|doi=10.1158/1541-7786.MCR-12-0695}}</ref><ref name="DiNardoCortes20162">{{cite journal|last1=DiNardo|first1=C. D.|last2=Cortes|first2=J. E.|title=Mutations in AML: prognostic and therapeutic implications|journal=Hematology|volume=2016|issue=1|year=2016|pages=348–355|issn=1520-4391|doi=10.1182/asheducation-2016.1.348}}</ref><ref name="MazzarellaRiva2014">{{cite journal|last1=Mazzarella|first1=Luca|last2=Riva|first2=Laura|last3=Luzi|first3=Lucilla|last4=Ronchini|first4=Chiara|last5=Pelicci|first5=Pier Giuseppe|title=The Genomic and Epigenomic Landscapes of AML|journal=Seminars in Hematology|volume=51|issue=4|year=2014|pages=259–272|issn=00371963|doi=10.1053/j.seminhematol.2014.08.007}}</ref> | |||
**''TET2'': ''Ten eleven translocation 2'' (''TET2'') is a gene that encodes an [[enzyme]] that [[catalyzes]] the conversion of methylcytosine to 5-hydroxymethylcytosine. Mutations in this gene result confer a worse [[prognosis]] for [[acute myeloid leukemia]].<ref name="pmid24495159">{{cite journal| author=Greim H, Kaden DA, Larson RA, Palermo CM, Rice JM, Ross D et al.| title=The bone marrow niche, stem cells, and leukemia: impact of drugs, chemicals, and the environment. | journal=Ann N Y Acad Sci | year= 2014 | volume= 1310 | issue= | pages= 7-31 | pmid=24495159 | doi=10.1111/nyas.12362 | pmc=4002179 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24495159 }} </ref> | |||
**''DNMT3A'': ''[[DNA]] methyltransferase 3a'' (''DNMT3A'') is a gene that encodes an enzyme that methylates DNA. In general, ''DNMT3A'' mutations are rare in acute promyelocytic leukemia.<ref name="pmid24495159">{{cite journal| author=Greim H, Kaden DA, Larson RA, Palermo CM, Rice JM, Ross D et al.| title=The bone marrow niche, stem cells, and leukemia: impact of drugs, chemicals, and the environment. | journal=Ann N Y Acad Sci | year= 2014 | volume= 1310 | issue= | pages= 7-31 | pmid=24495159 | doi=10.1111/nyas.12362 | pmc=4002179 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24495159 }} </ref> | |||
**''ASXL1'': ''Additional sex combs like 1'' (''[[ASXL1]]'') is a [[transcription]] [[Regulator gene|regulator]] and a modulator of [[histone]] [[methylation]]. Mutations in this gene are associated with a very poor prognosis in acute myeloid leukemia. | |||
**''EZH2'': ''Enhancer of zeste'' (''[[EZH2]]'') is a gene involved in the maintenance of [[Transcription (genetics)|transcription]] [[Repression of heat shock gene expression (ROSE) element|repression]]. It encodes a subunit of a [[histone]] [[methyltransferase]].<ref name="pmid24495159">{{cite journal| author=Greim H, Kaden DA, Larson RA, Palermo CM, Rice JM, Ross D et al.| title=The bone marrow niche, stem cells, and leukemia: impact of drugs, chemicals, and the environment. | journal=Ann N Y Acad Sci | year= 2014 | volume= 1310 | issue= | pages= 7-31 | pmid=24495159 | doi=10.1111/nyas.12362 | pmc=4002179 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24495159 }} </ref> | |||
**''SRSF2'': ''[[Serine]] and [[arginine]] rich splicing factor 2'' (''SRSF2'') is a gene that encodes a splicosome component. Mutations in this gene are also involved in [[myelodysplastic syndrome]]. | |||
**''SF3B1'': ''Splicing factor 3b subunit 1'' (''[[SF3B1]]'') is a gene that encodes for a splicosome component. Mutations in this gene are also involved in [[myelodysplastic syndrome]] and presence of ringed sideroblasts.<ref name="pmid23160465">{{cite journal |vauthors=Cazzola M, Rossi M, Malcovati L |title=Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms |journal=Blood |volume=121 |issue=2 |pages=260–9 |date=January 2013 |pmid=23160465 |pmc=3790951 |doi=10.1182/blood-2012-09-399725 |url=}}</ref> | |||
**''IDH2'': ''[[Isocitrate]] [[dehydrogenase]] 2'' (''[[IDH2]]'') is a gene that encodes for an enzyme that results in the production of 2-hydroxyglutarate, which is an oncometabolite that results in a [[differentiation]] block.<ref name="pmid29346477">{{cite journal| author=Patel SA| title=Enasidenib-Induced Differentiation Syndrome in IDH2-Mutant Acute Myeloid Leukemia. | journal=JAMA Oncol | year= 2018 | volume= | issue= | pages= | pmid=29346477 | doi=10.1001/jamaoncol.2017.4724 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29346477 }} </ref> The differentiation block that arises from ''[[IDH2]]'' mutations is similar pathophysiologically to the [[differentiation]] block that occurs with the ''PML-[[RARA gene|RARA]]'' [[Translocations|translocation]].<ref name="pmid29346477">{{cite journal| author=Patel SA| title=Enasidenib-Induced Differentiation Syndrome in IDH2-Mutant Acute Myeloid Leukemia. | journal=JAMA Oncol | year= 2018 | volume= | issue= | pages= | pmid=29346477 | doi=10.1001/jamaoncol.2017.4724 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29346477 }} </ref> | |||
==References== | ==References== | ||
Latest revision as of 16:15, 8 April 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2] Associate Editor(s)-in-Chief: Sogand Goudarzi, MD [3]; Grammar Reviewer: Natalie Harpenau, B.S.[4]
Overview
The cause of acute promyelocytic leukemia is sporadic rather than hereditary. It is caused by a reciprocal translocation between chromosomes 15 and 17, which creates a novel protein known as PML-RARA, leading to a differentiation block. In general, the causes of acute leukemia of myeloid origin include chemicals, radiation, cytotoxic chemotherapeutic agents, and specific mutations.
Acute promyelocytic leukemia causes
- Benzene: Benzene is a chemical liquid chemical with a sweet odor that is used in a variety of products, including heaters and other appliances. This chemical is a known cause of acute myeloid leukemia. In general, benzene exposure accounts for a very small fraction of acute promyelocytic leukemia, since most cases are sporadic.[1][2]
- Radiation: Ionizing radiation is a known cause of acute leukemia of myeloid origin. Radiation inducing DNA damage can result in leukemia. In general, ionizing radiation accounts for a very small fraction of acute promyelocytic leukemia, since most cases are sporadic.[1]
- Alkylating agents: Chemotherapy agents that function via DNA alkylation are known to contribute to acute promyelocytic leukemia. Alkylating agents include nitrogen mustards such as: carmustine (BCNU), lomustine (CCNU), and cyclophosphamide. Alkylating agents typically cause late-onset leukemia, which is the latency between the exposure to the alkylating agent and the diagnosis of leukemia, usually 5-7 years. There is frequently an antecedent myelodysplastic phase (a precursor state of acute leukemia).[3][4]
- Topoisomerase II inhibitors: Chemotherapy agents that function via inhibition of topoisomerase II are known to contribute to acute promyelocytic leukemia. Topoisomerase II inhibitors include anthracyclines, etoposide (VP-16), and topotecan. Topoisomerase II inhibitors typically cause early-onset leukemia: the latency between the exposure to the topoisomerase II inhibitor and the diagnosis of leukemia is usually 2-3 years. These are usually associated with the MLL rearrangement on chromosome 11q23.[5][6]
- Specific gene mutations: In rare cases, acute leukemia can arise in the setting of mutations. Most of these mutations are located in genes involved in epigenetic regulation. Such genes include TET2, DNMT3A, ASXL1, and EZH2. In addition to these, mutations in metabolic enzymes, such as IDH2 can contribute. These mutations are more common in acute myeloid leukemia compared to acute promyelocytic leukemia. Mutations can also occur in RNA splicing genes.[7][8][9]
- TET2: Ten eleven translocation 2 (TET2) is a gene that encodes an enzyme that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. Mutations in this gene result confer a worse prognosis for acute myeloid leukemia.[1]
- DNMT3A: DNA methyltransferase 3a (DNMT3A) is a gene that encodes an enzyme that methylates DNA. In general, DNMT3A mutations are rare in acute promyelocytic leukemia.[1]
- ASXL1: Additional sex combs like 1 (ASXL1) is a transcription regulator and a modulator of histone methylation. Mutations in this gene are associated with a very poor prognosis in acute myeloid leukemia.
- EZH2: Enhancer of zeste (EZH2) is a gene involved in the maintenance of transcription repression. It encodes a subunit of a histone methyltransferase.[1]
- SRSF2: Serine and arginine rich splicing factor 2 (SRSF2) is a gene that encodes a splicosome component. Mutations in this gene are also involved in myelodysplastic syndrome.
- SF3B1: Splicing factor 3b subunit 1 (SF3B1) is a gene that encodes for a splicosome component. Mutations in this gene are also involved in myelodysplastic syndrome and presence of ringed sideroblasts.[10]
- IDH2: Isocitrate dehydrogenase 2 (IDH2) is a gene that encodes for an enzyme that results in the production of 2-hydroxyglutarate, which is an oncometabolite that results in a differentiation block.[11] The differentiation block that arises from IDH2 mutations is similar pathophysiologically to the differentiation block that occurs with the PML-RARA translocation.[11]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 Greim H, Kaden DA, Larson RA, Palermo CM, Rice JM, Ross D; et al. (2014). "The bone marrow niche, stem cells, and leukemia: impact of drugs, chemicals, and the environment". Ann N Y Acad Sci. 1310: 7–31. doi:10.1111/nyas.12362. PMC 4002179. PMID 24495159.
- ↑ Zhang, L.; Samad, A.; Pombo-de-Oliveira, M.S.; Scelo, G.; Smith, M.T.; Feusner, J.; Wiemels, J.L.; Metayer, C. (2015). "Global characteristics of childhood acute promyelocytic leukemia". Blood Reviews. 29 (2): 101–125. doi:10.1016/j.blre.2014.09.013. ISSN 0268-960X.
- ↑ Casorelli, Ida; Bossa, Cecilia; Bignami, Margherita (2012). "DNA Damage and Repair in Human Cancer: Molecular Mechanisms and Contribution to Therapy-Related Leukemias". International Journal of Environmental Research and Public Health. 9 (8): 2636–2657. doi:10.3390/ijerph9082636. ISSN 1660-4601.
- ↑ Valentini, Caterina Giovanna; Fianchi, Luana; Voso, Maria Teresa; Caira, Morena; Leone, Giuseppe; Pagano, Livio (2011). "INCIDENCE OF ACUTE MYELOID LEUKEMIA AFTER BREAST CANCER". Mediterranean Journal of Hematology and Infectious Diseases. 3 (1): e2011069. doi:10.4084/mjhid.2011.069. ISSN 2035-3006.
- ↑ Felix, Carolyn A. (2001). "Leukemias related to treatment with DNA topoisomerase II inhibitors". Medical and Pediatric Oncology. 36 (5): 525–535. doi:10.1002/mpo.1125. ISSN 0098-1532.
- ↑ Pendleton, MaryJean; Lindsey, R. Hunter; Felix, Carolyn A.; Grimwade, David; Osheroff, Neil (2014). "Topoisomerase II and leukemia". Annals of the New York Academy of Sciences. 1310 (1): 98–110. doi:10.1111/nyas.12358. ISSN 0077-8923.
- ↑ Larsson, Connie A.; Cote, Gilbert; Quintás-Cardama, Alfonso (2013). "The Changing Mutational Landscape of Acute Myeloid Leukemia and Myelodysplastic Syndrome". Molecular Cancer Research. 11 (8): 815–827. doi:10.1158/1541-7786.MCR-12-0695. ISSN 1541-7786.
- ↑ DiNardo, C. D.; Cortes, J. E. (2016). "Mutations in AML: prognostic and therapeutic implications". Hematology. 2016 (1): 348–355. doi:10.1182/asheducation-2016.1.348. ISSN 1520-4391.
- ↑ Mazzarella, Luca; Riva, Laura; Luzi, Lucilla; Ronchini, Chiara; Pelicci, Pier Giuseppe (2014). "The Genomic and Epigenomic Landscapes of AML". Seminars in Hematology. 51 (4): 259–272. doi:10.1053/j.seminhematol.2014.08.007. ISSN 0037-1963.
- ↑ Cazzola M, Rossi M, Malcovati L (January 2013). "Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms". Blood. 121 (2): 260–9. doi:10.1182/blood-2012-09-399725. PMC 3790951. PMID 23160465.
- ↑ 11.0 11.1 Patel SA (2018). "Enasidenib-Induced Differentiation Syndrome in IDH2-Mutant Acute Myeloid Leukemia". JAMA Oncol. doi:10.1001/jamaoncol.2017.4724. PMID 29346477.