HAEM5:B lymphoblastic leukaemia/lymphoma with IGH::IL3 fusion: Difference between revisions
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P: Too few cases to accurately assess prognosis | P: Too few cases to accurately assess prognosis; however, A small case series suggested an intermediate prognosis, with a poor response to treatment and high levels of measurable residual disease at the end of induction<ref>{{Cite journal|last=Fournier|first=Benjamin|last2=Balducci|first2=Estelle|last3=Duployez|first3=Nicolas|last4=Clappier|first4=Emmanuelle|last5=Cuccuini|first5=Wendy|last6=Arfeuille|first6=Chloé|last7=Caye-Eude|first7=Aurélie|last8=Delabesse|first8=Eric|last9=Bottollier-Lemallaz Colomb|first9=Elodie|date=2019|title=B-ALL With t(5;14)(q31;q32); IGH-IL3 Rearrangement and Eosinophilia: A Comprehensive Analysis of a Peculiar IGH-Rearranged B-ALL|url=https://pubmed.ncbi.nlm.nih.gov/31921638|journal=Frontiers in Oncology|volume=9|pages=1374|doi=10.3389/fonc.2019.01374|issn=2234-943X|pmc=6914849|pmid=31921638}}</ref>. | ||
|No (NCCN) | |No (NCCN) | ||
| | |Clinical presentations vary widely. Some patients present with a typical B-ALL/LBL phenotype characterized by elevated blasts, while others exhibit only asymptomatic eosinophilia with minimal or no circulating blasts. In additional cases, the disease manifests as hypereosinophilic syndrome, featuring organomegaly, respiratory symptoms, cutaneous lesions, neurologic findings, thrombotic events, or eosinophilic cardiac involvement<ref>{{Cite journal|last=Tono-oka|first=T.|last2=Sato|first2=Y.|last3=Matsumoto|first3=T.|last4=Ueno|first4=N.|last5=Ohkawa|first5=M.|last6=Shikano|first6=T.|last7=Takeda|first7=T.|date=1984|title=Hypereosinophilic syndrome in acute lymphoblastic leukemia with a chromosome translocation [t(5q;14q)]|url=https://pubmed.ncbi.nlm.nih.gov/6583469|journal=Medical and Pediatric Oncology|volume=12|issue=1|pages=33–37|doi=10.1002/mpo.2950120109|issn=0098-1532|pmid=6583469}}</ref><ref>{{Cite journal|last=Fournier|first=Benjamin|last2=Balducci|first2=Estelle|last3=Duployez|first3=Nicolas|last4=Clappier|first4=Emmanuelle|last5=Cuccuini|first5=Wendy|last6=Arfeuille|first6=Chloé|last7=Caye-Eude|first7=Aurélie|last8=Delabesse|first8=Eric|last9=Bottollier-Lemallaz Colomb|first9=Elodie|date=2019|title=B-ALL With t(5;14)(q31;q32); IGH-IL3 Rearrangement and Eosinophilia: A Comprehensive Analysis of a Peculiar IGH-Rearranged B-ALL|url=https://pubmed.ncbi.nlm.nih.gov/31921638|journal=Frontiers in Oncology|volume=9|pages=1374|doi=10.3389/fonc.2019.01374|issn=2234-943X|pmc=6914849|pmid=31921638}}</ref><ref>{{Cite journal|last=Toboso|first=Dolores Gómez|last2=Campos|first2=Carmen Benet|date=2017-07-20|title=Peripheral eosinophilia as the first manifestation of B-cell acute lymphoblastic leukemia with t(5;14)(q31;q32)|url=https://pubmed.ncbi.nlm.nih.gov/28729339|journal=Blood|volume=130|issue=3|pages=380|doi=10.1182/blood-2016-12-754812|issn=1528-0020|pmid=28729339}}</ref>. | ||
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==Individual Region Genomic Gain/Loss/LOH== | ==Individual Region Genomic Gain/Loss/LOH== | ||
No recurrent chromosomal gains or losses have been described<ref name=":0">{{Cite journal|title=BlueBooksOnline|url=https://tumourclassification.iarc.who.int/chaptercontent/63/340}}</ref>. | |||
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span> | Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.'') </span> | ||
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==Characteristic Chromosomal or Other Global Mutational Patterns== | ==Characteristic Chromosomal or Other Global Mutational Patterns== | ||
No recurrent chromosomal or other global mutational patterns have been described<ref name=":0" />. | |||
Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span> | Put your text here and fill in the table <span style="color:#0070C0">(I''nstructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.'')</span> | ||
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
The t(5;14)(q31.1;q32) translocation can be detected by karyotyping or FISH; however, | The t(5;14)(q31.1;q32) translocation can be detected by karyotyping or FISH; however, cases with a low blast count or a cytogenetically cryptic rearrangement may require Next-generation sequencing assays to increase sensitivity<ref>{{Cite journal|last=Guenzel|first=Adam J.|last2=Smadbeck|first2=James B.|last3=Golden|first3=Crystal L.|last4=Williamson|first4=Cynthia M.|last5=Benevides Demasi|first5=Jonna C.|last6=Vasmatzis|first6=George|last7=Pearce|first7=Kathryn E.|last8=Olteanu|first8=Horatiu|last9=Xu|first9=Xinjie|date=2021-08|title=Clinical utility of next generation sequencing to detect IGH/IL3 rearrangements [t(5;14)(q31.1;q32.1)] in B-lymphoblastic leukemia/lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/33991782|journal=Annals of Diagnostic Pathology|volume=53|pages=151761|doi=10.1016/j.anndiagpath.2021.151761|issn=1532-8198|pmid=33991782}}</ref><ref>{{Cite journal|last=Fournier|first=Benjamin|last2=Balducci|first2=Estelle|last3=Duployez|first3=Nicolas|last4=Clappier|first4=Emmanuelle|last5=Cuccuini|first5=Wendy|last6=Arfeuille|first6=Chloé|last7=Caye-Eude|first7=Aurélie|last8=Delabesse|first8=Eric|last9=Bottollier-Lemallaz Colomb|first9=Elodie|date=2019|title=B-ALL With t(5;14)(q31;q32); IGH-IL3 Rearrangement and Eosinophilia: A Comprehensive Analysis of a Peculiar IGH-Rearranged B-ALL|url=https://pubmed.ncbi.nlm.nih.gov/31921638|journal=Frontiers in Oncology|volume=9|pages=1374|doi=10.3389/fonc.2019.01374|issn=2234-943X|pmc=6914849|pmid=31921638}}</ref>. | ||
Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span> | Put your text here <span style="color:#0070C0">(''Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.'')</span> | ||
==Familial Forms== | ==Familial Forms== | ||