HAEM5:B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion: Difference between revisions
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<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
The presence of ''ETV6-RUNX1'' alters differentiation and enhances self renewal of hematopoietic progenitor cells, particularly of B-lineage. The expression of ''ETV6-RUNX1'' in human cord blood progenitor cells reportedly caused the expansion of a candidate pre-leukemic population that had a growth advantage in the presence of transforming growth factor-β | The presence of ''ETV6-RUNX1'' alters differentiation and enhances self renewal of hematopoietic progenitor cells, particularly of B-lineage. The expression of ''ETV6-RUNX1'' in human cord blood progenitor cells reportedly caused the expansion of a candidate pre-leukemic population that had a growth advantage in the presence of transforming growth factor-β | ||
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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 old template. Please incorporate above.}} | <blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote> | ||
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* Individual Region Genomic Gain/Loss/LOH | * Individual Region Genomic Gain/Loss/LOH | ||
* Characteristic Chromosomal Patterns | * Characteristic Chromosomal Patterns | ||
* Gene Mutations (SNV/INDEL)}} | * Gene Mutations (SNV/INDEL)}}</blockquote> | ||
''ETV6-RUNX1''-positive ALL cells have distinct biologic features and are reported to have an increased ''in vitro'' sensitivity to anti-leukemic drugs such as L-asparaginase, doxorubicin, etoposide and dexamethasone compared with leukemic cells of other cytogenetic subtypes. The presence of ''ETV6-RUNX1'' has been associated with a relatively low rate of relapse in multiple studies.Moreover, relapses tend to occur late and have a better salvage rate than other ALL subtypes. A COG (Children's Oncology Group) study indicated that the presence of ''ETV6-RUNX1'' was an independent predictor of favorable outcome.However, in a study from the (DFCI) Dana Farber Cancer Institute Consortium, ''ETV6-RUNX1'' status was not an independent prognostic factor after accounting for age, initial leukocyte count and treatment group.Thus, it is not clear whether the ''ETV6-RUNX1'' fusion has independent prognostic significance in the context of current risk-adapted therapy and whether the outcome of children with ''ETV6-RUNX1''-positive ALL can be further improved by contemporary therapeutic strategies. | ''ETV6-RUNX1''-positive ALL cells have distinct biologic features and are reported to have an increased ''in vitro'' sensitivity to anti-leukemic drugs such as L-asparaginase, doxorubicin, etoposide and dexamethasone compared with leukemic cells of other cytogenetic subtypes. The presence of ''ETV6-RUNX1'' has been associated with a relatively low rate of relapse in multiple studies.Moreover, relapses tend to occur late and have a better salvage rate than other ALL subtypes. A COG (Children's Oncology Group) study indicated that the presence of ''ETV6-RUNX1'' was an independent predictor of favorable outcome.However, in a study from the (DFCI) Dana Farber Cancer Institute Consortium, ''ETV6-RUNX1'' status was not an independent prognostic factor after accounting for age, initial leukocyte count and treatment group.Thus, it is not clear whether the ''ETV6-RUNX1'' fusion has independent prognostic significance in the context of current risk-adapted therapy and whether the outcome of children with ''ETV6-RUNX1''-positive ALL can be further improved by contemporary therapeutic strategies. | ||
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==Individual Region Genomic Gain / Loss / LOH== | ==Individual Region Genomic Gain / Loss / LOH== | ||
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The 12p13 deletion is the most common accompanying abnormality found in approximately 40% of cases resulting in the loss of ''ETV6'' on the chromosome not involved in the rearrangement. In addition, deletion of the ''CDKN2A/B'' locus on 9p21 or the ''PAX5'' gene at 9p13 can be both seen in about a quarter of patients [29–32] . These abnormalities, as well as loss of 6q and gain of chromosome 16, are thought to be among the earliest genomic aberrations in t(12;21) positive B-ALL | The 12p13 deletion is the most common accompanying abnormality found in approximately 40% of cases resulting in the loss of ''ETV6'' on the chromosome not involved in the rearrangement. In addition, deletion of the ''CDKN2A/B'' locus on 9p21 or the ''PAX5'' gene at 9p13 can be both seen in about a quarter of patients [29–32] . These abnormalities, as well as loss of 6q and gain of chromosome 16, are thought to be among the earliest genomic aberrations in t(12;21) positive B-ALL | ||
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==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||