HAEM5:Early T-precursor lymphoblastic leukaemia / lymphoma: Difference between revisions
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<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the previous version of the page. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the previous version of the page. Please incorporate above.}}</blockquote> | ||
The clinical features of ETP-ALL are similar to that of other subtypes of T-ALL, including a high leukocyte count, anterior mediastinal mass or other tissue mass, lymphadenopathy, hepatosplenomegaly<ref name=":3">{{Cite journal|last=Inukai|first=Takeshi|last2=Kiyokawa|first2=Nobutaka|last3=Campana|first3=Dario|last4=Coustan-Smith|first4=Elaine|last5=Kikuchi|first5=Akira|last6=Kobayashi|first6=Miyuki|last7=Takahashi|first7=Hiroyuki|last8=Koh|first8=Katsuyoshi|last9=Manabe|first9=Atsushi|date=2012-02|title=Clinical significance of early T-cell precursor acute lymphoblastic leukaemia: results of the Tokyo Children's Cancer Study Group Study L99-15|url=https://pubmed.ncbi.nlm.nih.gov/22128890|journal=British Journal of Haematology|volume=156|issue=3|pages=358–365|doi=10.1111/j.1365-2141.2011.08955.x|issn=1365-2141|pmid=22128890}}</ref><ref name=":4">Borowitz MJ, et al., (2016).T-lymphoblastic leukemia/lymphoma, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4thedition.Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p176-178.</ref>. Some patients who develop an anterior mediastinal mass can lead to superior vena cava syndrome. | The clinical features of ETP-ALL are similar to that of other subtypes of T-ALL, including a high leukocyte count, anterior mediastinal mass or other tissue mass, lymphadenopathy, hepatosplenomegaly<ref name=":3">{{Cite journal|last=Inukai|first=Takeshi|last2=Kiyokawa|first2=Nobutaka|last3=Campana|first3=Dario|last4=Coustan-Smith|first4=Elaine|last5=Kikuchi|first5=Akira|last6=Kobayashi|first6=Miyuki|last7=Takahashi|first7=Hiroyuki|last8=Koh|first8=Katsuyoshi|last9=Manabe|first9=Atsushi|date=2012-02|title=Clinical significance of early T-cell precursor acute lymphoblastic leukaemia: results of the Tokyo Children's Cancer Study Group Study L99-15|url=https://pubmed.ncbi.nlm.nih.gov/22128890|journal=British Journal of Haematology|volume=156|issue=3|pages=358–365|doi=10.1111/j.1365-2141.2011.08955.x|issn=1365-2141|pmid=22128890}}</ref><ref name=":4">Borowitz MJ, et al., (2016).T-lymphoblastic leukemia/lymphoma, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4thedition.Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p176-178.</ref>. Some patients who develop an anterior mediastinal mass can lead to superior vena cava syndrome. | ||
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==Sites of Involvement== | ==Sites of Involvement== | ||
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<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the previous version of the page. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the previous version of the page. Please incorporate above.}}</blockquote> | ||
''MEF2C'' (5q14) rearrangement or rearrangement involving ''MEF2C''-related cofactors have been reported in about 50% of ETP-ALL cases<ref>Homminga I, Pieters R, Langerak A, de Rooi J, Stubbs A, Verstegen M, et al. MEF2C as Novel Oncogene for Early T-Cell Precursor (ETP) Leukemia. ''Blood'' (2010) 116:9–9. doi: 10.1182/blood.V116.21.9.9</ref>, which have been validated in an independent ETP-ALL patient cohort<ref>Meijer M, Cordo V, Hagelaar R, Smits W, Meijerink J. Manipulating MEF2C: Discovering Novel Drugs to Target ETP-ALL. ''Blood'' (2021) 138 (Supplement 1): 3325. doi.org/10.1182/blood-2021-150176.</ref>. Ectopic MEF2C expression due to rearrangement has been demonstrated as an oncogenic driver of ETP-ALL by upregulating ''LMO2'' and ''LYL1,'' which lead to differentiation block of early thymocytes. | ''MEF2C'' (5q14) rearrangement or rearrangement involving ''MEF2C''-related cofactors have been reported in about 50% of ETP-ALL cases<ref>Homminga I, Pieters R, Langerak A, de Rooi J, Stubbs A, Verstegen M, et al. MEF2C as Novel Oncogene for Early T-Cell Precursor (ETP) Leukemia. ''Blood'' (2010) 116:9–9. doi: 10.1182/blood.V116.21.9.9</ref>, which have been validated in an independent ETP-ALL patient cohort<ref>Meijer M, Cordo V, Hagelaar R, Smits W, Meijerink J. Manipulating MEF2C: Discovering Novel Drugs to Target ETP-ALL. ''Blood'' (2021) 138 (Supplement 1): 3325. doi.org/10.1182/blood-2021-150176.</ref>. Ectopic MEF2C expression due to rearrangement has been demonstrated as an oncogenic driver of ETP-ALL by upregulating ''LMO2'' and ''LYL1,'' which lead to differentiation block of early thymocytes. | ||
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Other chromosomal rearrangements involving KMT2A have been observed in ETP-ALL <ref name=":6" />. | Other chromosomal rearrangements involving KMT2A have been observed in ETP-ALL <ref name=":6" />. | ||
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==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
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<blockquote class='blockedit'>{{Box-round|title=v4:Individual Region Genomic Gain / Loss / LOH|The content below was from the previous version of the page. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Individual Region Genomic Gain / Loss / LOH|The content below was from the previous version of the page. Please incorporate above.}}</blockquote> | ||
Currently there is no specific copy number alterations/LOH that is associated with ETP-ALL. | Currently there is no specific copy number alterations/LOH that is associated with ETP-ALL. | ||
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==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
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<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Patterns|The content below was from the previous version of the page. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Patterns|The content below was from the previous version of the page. Please incorporate above.}}</blockquote> | ||
Currently there is no specific chromosomal alteration that is characteristic for ETP-ALL. | Currently there is no specific chromosomal alteration that is characteristic for ETP-ALL. | ||
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==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||