HAEM5:Myeloid/lymphoid neoplasms with other tyrosine kinase fusion genes - Revision history

Richard.Glen at 00:49, 26 February 2026

2026-02-26T00:49:46Z

← Older revision		Revision as of 19:49, 25 February 2026
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	==References==		==References==
	(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span><references />		(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span>
			<references />

	==Notes==		==Notes==

Richard.Glen at 00:38, 26 February 2026

2026-02-26T00:38:00Z

← Older revision		Revision as of 19:38, 25 February 2026
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	==References==		==References==
	(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span>		(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span><references />

	==Notes==		==Notes==
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	[[Category:DISEASE]]		[[Category:DISEASE]]
	[[Category:Diseases M]]		[[Category:Diseases M]]
	~~<references />~~

Bailey.Glen at 17:24, 3 July 2025

2025-07-03T17:24:35Z

← Older revision		Revision as of 12:24, 3 July 2025
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	\|}		\|}

	~~==WHO Essential and Desirable Genetic Diagnostic Criteria==~~
	<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
	~~{\| class="wikitable"~~
	\|+
	\|WHO Essential Criteria (Genetics)*
	~~\|Detection of a tyrosine kinase fusion gene not classified under specific unique entities (''PDGFRA, PDGFRB, FGFR1, JAK2, FLT3, ETV6::ABL1'').~~
	\|-
	\|WHO Desirable Criteria (Genetics)*
	~~\|Cytogenetic translocation suggesting a potential involvement of a tyrosine kinase gene, with selection of a FISH break-apart probe or another molecular assay for confirmation.~~
	\|-
	~~\|Other Classification~~
	~~\|Other desirable criteria: Presence of eosinophilia.~~
	\|}
	<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
	==Related Terminology==		==Related Terminology==

Bailey.Glen at 21:44, 25 May 2025

2025-05-25T21:44:47Z

← Older revision		Revision as of 16:44, 25 May 2025
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	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Chr #!!~~'''~~Gain, Loss, Amp, LOH~~'''~~!!~~'''~~Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]~~'''~~!!~~'''~~Relevant Gene(s)~~'''~~		!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
	!~~'''~~Diagnostic, Prognostic, and Therapeutic Significance - D, P, T~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~Established Clinical Significance Per Guidelines - Yes or No (Source)~~'''~~		!Established Clinical Significance Per Guidelines - Yes or No (Source)
	!~~'''~~Clinical Relevance Details/Other Notes~~'''~~		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|<span class="blue-text">EXAMPLE:</span>		\|<span class="blue-text">EXAMPLE:</span>
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	!Chromosomal Pattern		!Chromosomal Pattern
	!Molecular Pathogenesis		!Molecular Pathogenesis
	!~~'''~~Prevalence -~~'''~~		!Prevalence -
	~~'''~~Common >20%, Recurrent 5-20% or Rare <5% (Disease)~~'''~~		Common >20%, Recurrent 5-20% or Rare <5% (Disease)
	!~~'''~~Diagnostic, Prognostic, and Therapeutic Significance - D, P, T~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~Established Clinical Significance Per Guidelines - Yes or No (Source)~~'''~~		!Established Clinical Significance Per Guidelines - Yes or No (Source)
	!~~'''~~Clinical Relevance Details/Other Notes~~'''~~		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|<span class="blue-text">EXAMPLE:</span>		\|<span class="blue-text">EXAMPLE:</span>
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	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Gene!!~~'''~~Genetic Alteration~~'''~~!!~~'''~~Tumor Suppressor Gene, Oncogene, Other~~'''~~!!~~'''~~Prevalence -~~'''~~		!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
	~~'''~~Common >20%, Recurrent 5-20% or Rare <5% (Disease)~~'''~~		Common >20%, Recurrent 5-20% or Rare <5% (Disease)
	!~~'''~~Diagnostic, Prognostic, and Therapeutic Significance - D, P, T ~~'''~~		!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
	!~~'''~~Established Clinical Significance Per Guidelines - Yes or No (Source)~~'''~~		!Established Clinical Significance Per Guidelines - Yes or No (Source)
	!~~'''~~Clinical Relevance Details/Other Notes~~'''~~		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|<span class="blue-text">EXAMPLE:</span>''EGFR''		\|<span class="blue-text">EXAMPLE:</span>''EGFR''

Bailey.Glen at 20:20, 25 May 2025

2025-05-25T20:20:20Z

← Older revision		Revision as of 15:20, 25 May 2025
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	<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].		<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
	==Related Terminology==		==Related Terminology==
	~~<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>~~
	{\| class="wikitable"		{\| class="wikitable"
	\|+		\|+
	\|Acceptable		\|Acceptable
	\|~~Myeloid~~/~~lymphoid neoplasms with other tyrosine kinase fusion genes, Other and unspecified myeloproliferative neoplasms.~~		\|N/A
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|Myeloid/lymphoid neoplasms with tyrosine kinase fusion genes (NOS).		\|Myeloid/lymphoid neoplasms with tyrosine kinase fusion genes (NOS)
	\|}		\|}

Bailey.Glen at 17:42, 24 March 2025

2025-03-24T17:42:53Z

← Older revision		Revision as of 12:42, 24 March 2025
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	{{DISPLAYTITLE:Myeloid/lymphoid neoplasms with other tyrosine kinase fusion genes}}		{{DISPLAYTITLE:Myeloid/lymphoid neoplasms with other tyrosine kinase fusion genes}}

	[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]		[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

Rolando.Garcia: /* Gene Rearrangements */

2025-03-11T16:17:37Z

Gene Rearrangements

← Older revision		Revision as of 11:17, 11 March 2025
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	\|D, P, T		\|D, P, T
	\|Yes (WHO)		\|Yes (WHO)
	\|Myeloid / lymphoid acute leukemia. This fusion suggests abnormal FGFR2 expression. Aberrant The ''FGFR2'' activation resulting from ''ETV6::FGFR2'' may respond to ''FGFR1,2,3'' tyrosine kinase inhibitors (TKIs). <ref>{{Cite journal\|last=Katoh\|first=Masaru\|date=2019-02\|title=Fibroblast growth factor receptors as treatment targets in clinical oncology\|url=https://pubmed.ncbi.nlm.nih.gov/30367139\|journal=Nature Reviews. Clinical Oncology\|volume=16\|issue=2\|pages=105–122\|doi=10.1038/s41571-018-0115-y\|issn=1759-4782\|pmid=30367139}}</ref> This rearrangement exhibited aggressive clinical behavior, demonstrating resistance to both conventional and intensive chemotherapy, as well as allogeneic stem cell transplantation.<ref>{{Cite journal\|last=Carll\|first=Timothy\|last2=Patel\|first2=Anand\|last3=Derman\|first3=Benjamin\|last4=Hyjek\|first4=Elizabeth\|last5=Lager\|first5=Angela\|last6=Wanjari\|first6=Pankhuri\|last7=Segal\|first7=Jeremy\|last8=Odenike\|first8=Olatoyosi\|last9=Fidai\|first9=Shiraz\|date=2020-10-13\|title=Diagnosis and treatment of mixed phenotype (T-myeloid/lymphoid) acute leukemia with novel ETV6-FGFR2 rearrangement\|url=https://pubmed.ncbi.nlm.nih.gov/33049052\|journal=Blood Advances\|volume=4\|issue=19\|pages=4924–4928\|doi=10.1182/bloodadvances.2019001282\|issn=2473-9537\|pmc=7556145\|pmid=33049052}}</ref> The prognosis remains unclear due to the limited number of cases.		\|Myeloid / lymphoid acute leukemia. This fusion suggests abnormal ''FGFR2'' expression. Aberrant The ''FGFR2'' activation resulting from ''ETV6::FGFR2'' may respond to ''FGFR1,2,3'' tyrosine kinase inhibitors (TKIs). <ref>{{Cite journal\|last=Katoh\|first=Masaru\|date=2019-02\|title=Fibroblast growth factor receptors as treatment targets in clinical oncology\|url=https://pubmed.ncbi.nlm.nih.gov/30367139\|journal=Nature Reviews. Clinical Oncology\|volume=16\|issue=2\|pages=105–122\|doi=10.1038/s41571-018-0115-y\|issn=1759-4782\|pmid=30367139}}</ref> This rearrangement exhibited aggressive clinical behavior, demonstrating resistance to both conventional and intensive chemotherapy, as well as allogeneic stem cell transplantation.<ref>{{Cite journal\|last=Carll\|first=Timothy\|last2=Patel\|first2=Anand\|last3=Derman\|first3=Benjamin\|last4=Hyjek\|first4=Elizabeth\|last5=Lager\|first5=Angela\|last6=Wanjari\|first6=Pankhuri\|last7=Segal\|first7=Jeremy\|last8=Odenike\|first8=Olatoyosi\|last9=Fidai\|first9=Shiraz\|date=2020-10-13\|title=Diagnosis and treatment of mixed phenotype (T-myeloid/lymphoid) acute leukemia with novel ETV6-FGFR2 rearrangement\|url=https://pubmed.ncbi.nlm.nih.gov/33049052\|journal=Blood Advances\|volume=4\|issue=19\|pages=4924–4928\|doi=10.1182/bloodadvances.2019001282\|issn=2473-9537\|pmc=7556145\|pmid=33049052}}</ref> The prognosis remains unclear due to the limited number of cases.
	\|-		\|-
	\|''LYN''		\|''LYN''
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	\|D. P,T		\|D. P,T
	\|Yes (WHO)		\|Yes (WHO)
	\|Resistant to intensive chemotherapy or stem cell transplant, the disease progressed rapidly to terminal AML.<ref>{{Cite journal\|last=Telford\|first=N.\|last2=Alexander\|first2=S.\|last3=McGinn\|first3=O. J.\|last4=Williams\|first4=M.\|last5=Wood\|first5=K. M.\|last6=Bloor\|first6=A.\|last7=Saha\|first7=V.\|date=2016-04-08\|title=Myeloproliferative neoplasm with eosinophilia and T-lymphoblastic lymphoma with ETV6-LYN gene fusion\|url=https://pubmed.ncbi.nlm.nih.gov/27058227\|journal=Blood Cancer Journal\|volume=6\|issue=4\|pages=e412\|doi=10.1038/bcj.2016.11\|issn=2044-5385\|pmc=4855251\|pmid=27058227}}</ref> Prognosis is not well defined due to the small number of cases.		\|Acute myeloid leukemia / primary myelofibrosis/ T-lymphoblastic leukemia. Resistant to intensive chemotherapy or stem cell transplant, the disease progressed rapidly to terminal AML.<ref>{{Cite journal\|last=Telford\|first=N.\|last2=Alexander\|first2=S.\|last3=McGinn\|first3=O. J.\|last4=Williams\|first4=M.\|last5=Wood\|first5=K. M.\|last6=Bloor\|first6=A.\|last7=Saha\|first7=V.\|date=2016-04-08\|title=Myeloproliferative neoplasm with eosinophilia and T-lymphoblastic lymphoma with ETV6-LYN gene fusion\|url=https://pubmed.ncbi.nlm.nih.gov/27058227\|journal=Blood Cancer Journal\|volume=6\|issue=4\|pages=e412\|doi=10.1038/bcj.2016.11\|issn=2044-5385\|pmc=4855251\|pmid=27058227}}</ref> Prognosis is not well defined due to the small number of cases.
	\|-		\|-
	\|''NTRK3''		\|''NTRK3''
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	\|D, P, T		\|D, P, T
	\|Yes (WHO)		\|Yes (WHO)
	\|Resistant to intensive chemotherapy and allogeneic SCT. Poor clinical outcome.<ref>{{Cite journal\|last=Lim\|first=Ji-Hun\|last2=Jang\|first2=Seongsoo\|last3=Park\|first3=Chan-Jeoung\|last4=Cho\|first4=Young-Uk\|last5=Lee\|first5=Je-Hwan\|last6=Lee\|first6=Kyoo-Hyung\|last7=Lee\|first7=Jin-Ok\|last8=Shin\|first8=Jong-Yeon\|last9=Kim\|first9=Jong-Il\|date=2014\|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/24613277\|journal=Cancer Genetics\|volume=207\|issue=1-2\|pages=40–45\|doi=10.1016/j.cancergen.2013.12.003\|issn=2210-7762\|pmid=24613277}}</ref> Prognosis is not well defined due to the small number of cases.		\|Acute myelomonocytic leukemia/ myeloproliferative leukemia. Resistant to intensive chemotherapy and allogeneic SCT. Poor clinical outcome.<ref>{{Cite journal\|last=Lim\|first=Ji-Hun\|last2=Jang\|first2=Seongsoo\|last3=Park\|first3=Chan-Jeoung\|last4=Cho\|first4=Young-Uk\|last5=Lee\|first5=Je-Hwan\|last6=Lee\|first6=Kyoo-Hyung\|last7=Lee\|first7=Jin-Ok\|last8=Shin\|first8=Jong-Yeon\|last9=Kim\|first9=Jong-Il\|date=2014\|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/24613277\|journal=Cancer Genetics\|volume=207\|issue=1-2\|pages=40–45\|doi=10.1016/j.cancergen.2013.12.003\|issn=2210-7762\|pmid=24613277}}</ref> Prognosis is not well defined due to the small number of cases.
	\|-		\|-
	\|		\|

Rolando.Garcia: /* Gene Rearrangements */

2025-03-11T16:12:31Z

Gene Rearrangements

← Older revision		Revision as of 11:12, 11 March 2025
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	!Clinical Relevance Details/Other Notes		!Clinical Relevance Details/Other Notes
	\|-		\|-
	\|''FGFR2''\|\|''ETV6::FGFR2'' <ref>{{Cite journal\|last=Carll\|first=Timothy\|last2=Patel\|first2=Anand\|last3=Derman\|first3=Benjamin\|last4=Hyjek\|first4=Elizabeth\|last5=Lager\|first5=Angela\|last6=Wanjari\|first6=Pankhuri\|last7=Segal\|first7=Jeremy\|last8=Odenike\|first8=Olatoyosi\|last9=Fidai\|first9=Shiraz\|date=2020-10-13\|title=Diagnosis and treatment of mixed phenotype (T-myeloid/lymphoid) acute leukemia with novel ETV6-FGFR2 rearrangement\|url=https://pubmed.ncbi.nlm.nih.gov/33049052\|journal=Blood Advances\|volume=4\|issue=19\|pages=4924–4928\|doi=10.1182/bloodadvances.2019001282\|issn=2473-9537\|pmc=7556145\|pmid=33049052}}</ref>\|\|Fusion between exon 4 of ''ETV6'' ~~(upstream)~~ and exon 5 of ''FGFR2'' (~~downstream~~).\|\|Cryptic rearrangement detected by FISH involving chromosomes 10 and 12		\|''FGFR2''\|\|''ETV6::FGFR2'' <ref>{{Cite journal\|last=Carll\|first=Timothy\|last2=Patel\|first2=Anand\|last3=Derman\|first3=Benjamin\|last4=Hyjek\|first4=Elizabeth\|last5=Lager\|first5=Angela\|last6=Wanjari\|first6=Pankhuri\|last7=Segal\|first7=Jeremy\|last8=Odenike\|first8=Olatoyosi\|last9=Fidai\|first9=Shiraz\|date=2020-10-13\|title=Diagnosis and treatment of mixed phenotype (T-myeloid/lymphoid) acute leukemia with novel ETV6-FGFR2 rearrangement\|url=https://pubmed.ncbi.nlm.nih.gov/33049052\|journal=Blood Advances\|volume=4\|issue=19\|pages=4924–4928\|doi=10.1182/bloodadvances.2019001282\|issn=2473-9537\|pmc=7556145\|pmid=33049052}}</ref>\|\|Fusion between exon 4 of ''ETV6'' and exon 5 of ''FGFR2'' (5′ to 3′ orientation).\|\|Cryptic rearrangement detected by FISH involving chromosomes 10 and 12
	\|Rare < 5%		\|Rare < 5%
	\|D, P, T		\|D, P, T
	\|Yes (WHO)		\|Yes (WHO)
	\|This fusion suggests abnormal FGFR2 expression. Aberrant The ''FGFR2'' activation resulting from ''ETV6::FGFR2'' may respond to ''FGFR1,2,3'' tyrosine kinase inhibitors (TKIs). <ref>{{Cite journal\|last=Katoh\|first=Masaru\|date=2019-02\|title=Fibroblast growth factor receptors as treatment targets in clinical oncology\|url=https://pubmed.ncbi.nlm.nih.gov/30367139\|journal=Nature Reviews. Clinical Oncology\|volume=16\|issue=2\|pages=105–122\|doi=10.1038/s41571-018-0115-y\|issn=1759-4782\|pmid=30367139}}</ref> This rearrangement exhibited aggressive clinical behavior, demonstrating resistance to both conventional and intensive chemotherapy, as well as allogeneic stem cell transplantation.<ref>{{Cite journal\|last=Carll\|first=Timothy\|last2=Patel\|first2=Anand\|last3=Derman\|first3=Benjamin\|last4=Hyjek\|first4=Elizabeth\|last5=Lager\|first5=Angela\|last6=Wanjari\|first6=Pankhuri\|last7=Segal\|first7=Jeremy\|last8=Odenike\|first8=Olatoyosi\|last9=Fidai\|first9=Shiraz\|date=2020-10-13\|title=Diagnosis and treatment of mixed phenotype (T-myeloid/lymphoid) acute leukemia with novel ETV6-FGFR2 rearrangement\|url=https://pubmed.ncbi.nlm.nih.gov/33049052\|journal=Blood Advances\|volume=4\|issue=19\|pages=4924–4928\|doi=10.1182/bloodadvances.2019001282\|issn=2473-9537\|pmc=7556145\|pmid=33049052}}</ref> The prognosis remains unclear due to the limited number of cases.		\|Myeloid / lymphoid acute leukemia. This fusion suggests abnormal FGFR2 expression. Aberrant The ''FGFR2'' activation resulting from ''ETV6::FGFR2'' may respond to ''FGFR1,2,3'' tyrosine kinase inhibitors (TKIs). <ref>{{Cite journal\|last=Katoh\|first=Masaru\|date=2019-02\|title=Fibroblast growth factor receptors as treatment targets in clinical oncology\|url=https://pubmed.ncbi.nlm.nih.gov/30367139\|journal=Nature Reviews. Clinical Oncology\|volume=16\|issue=2\|pages=105–122\|doi=10.1038/s41571-018-0115-y\|issn=1759-4782\|pmid=30367139}}</ref> This rearrangement exhibited aggressive clinical behavior, demonstrating resistance to both conventional and intensive chemotherapy, as well as allogeneic stem cell transplantation.<ref>{{Cite journal\|last=Carll\|first=Timothy\|last2=Patel\|first2=Anand\|last3=Derman\|first3=Benjamin\|last4=Hyjek\|first4=Elizabeth\|last5=Lager\|first5=Angela\|last6=Wanjari\|first6=Pankhuri\|last7=Segal\|first7=Jeremy\|last8=Odenike\|first8=Olatoyosi\|last9=Fidai\|first9=Shiraz\|date=2020-10-13\|title=Diagnosis and treatment of mixed phenotype (T-myeloid/lymphoid) acute leukemia with novel ETV6-FGFR2 rearrangement\|url=https://pubmed.ncbi.nlm.nih.gov/33049052\|journal=Blood Advances\|volume=4\|issue=19\|pages=4924–4928\|doi=10.1182/bloodadvances.2019001282\|issn=2473-9537\|pmc=7556145\|pmid=33049052}}</ref> The prognosis remains unclear due to the limited number of cases.
	\|-		\|-
	\|''LYN''		\|''LYN''

Rolando.Garcia: /* Gene Rearrangements */

2025-03-11T16:03:13Z

Gene Rearrangements

← Older revision		Revision as of 11:03, 11 March 2025
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	\|Fusion between ''ETV6'' and ''NTRK3'' (5′ to 3′ orientation)		\|Fusion between ''ETV6'' and ''NTRK3'' (5′ to 3′ orientation)
	\|t(12;15)(p13;q25)		\|t(12;15)(p13;q25)
	\|~~''ETV6::NTRK3'' is reported in multiple cancers but rare~~ < 5% in acute lymphoblastic leukemia. <ref>{{Cite journal\|last=Knezevich\|first=S. R.\|last2=Garnett\|first2=M. J.\|last3=Pysher\|first3=T. J.\|last4=Beckwith\|first4=J. B.\|last5=Grundy\|first5=P. E.\|last6=Sorensen\|first6=P. H.\|date=1998-11-15\|title=ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma\|url=https://pubmed.ncbi.nlm.nih.gov/9823307\|journal=Cancer Research\|volume=58\|issue=22\|pages=5046–5048\|issn=0008-5472\|pmid=9823307}}</ref><ref>{{Cite journal\|last=Tognon\|first=Cristina\|last2=Knezevich\|first2=Stevan R.\|last3=Huntsman\|first3=David\|last4=Roskelley\|first4=Calvin D.\|last5=Melnyk\|first5=Natalya\|last6=Mathers\|first6=Joan A.\|last7=Becker\|first7=Laurence\|last8=Carneiro\|first8=Fatima\|last9=MacPherson\|first9=Nicol\|date=2002-11\|title=Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma\|url=https://pubmed.ncbi.nlm.nih.gov/12450792\|journal=Cancer Cell\|volume=2\|issue=5\|pages=367–376\|doi=10.1016/s1535-6108(02)00180-0\|issn=1535-6108\|pmid=12450792}}</ref><ref>{{Cite journal\|last=Alessandri\|first=A. J.\|last2=Knezevich\|first2=S. R.\|last3=Mathers\|first3=J. A.\|last4=Schultz\|first4=K. R.\|last5=Sorensen\|first5=P. H.\|date=2001-10\|title=Absence of t(12;15) associated ETV6-NTRK3 fusion transcripts in pediatric acute leukemias\|url=https://pubmed.ncbi.nlm.nih.gov/11568911\|journal=Medical and Pediatric Oncology\|volume=37\|issue=4\|pages=415–416\|doi=10.1002/mpo.1222\|issn=0098-1532\|pmid=11568911}}</ref>		\|Rare < 5%
	\|T		\|T
	\|Yes (WHO)		\|Yes (WHO)
	\|The ''ETV6::NTRK3'' responded to the ALK inhibitory crizotinib.<ref>{{Cite journal\|last=Roberts\|first=Kathryn G.\|last2=Li\|first2=Yongjin\|last3=Payne-Turner\|first3=Debbie\|last4=Harvey\|first4=Richard C.\|last5=Yang\|first5=Yung-Li\|last6=Pei\|first6=Deqing\|last7=McCastlain\|first7=Kelly\|last8=Ding\|first8=Li\|last9=Lu\|first9=Charles\|date=2014-09-11\|title=Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/25207766\|journal=The New England Journal of Medicine\|volume=371\|issue=11\|pages=1005–1015\|doi=10.1056/NEJMoa1403088\|issn=1533-4406\|pmc=4191900\|pmid=25207766}}</ref> Prognosis is not well defined due to the small number of cases.		\|''ETV6::NTRK3'' is reported in multiple cancers but rare in acute lymphoblastic leukemia.<ref>{{Cite journal\|last=Knezevich\|first=S. R.\|last2=Garnett\|first2=M. J.\|last3=Pysher\|first3=T. J.\|last4=Beckwith\|first4=J. B.\|last5=Grundy\|first5=P. E.\|last6=Sorensen\|first6=P. H.\|date=1998-11-15\|title=ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma\|url=https://pubmed.ncbi.nlm.nih.gov/9823307\|journal=Cancer Research\|volume=58\|issue=22\|pages=5046–5048\|issn=0008-5472\|pmid=9823307}}</ref><ref>{{Cite journal\|last=Tognon\|first=Cristina\|last2=Knezevich\|first2=Stevan R.\|last3=Huntsman\|first3=David\|last4=Roskelley\|first4=Calvin D.\|last5=Melnyk\|first5=Natalya\|last6=Mathers\|first6=Joan A.\|last7=Becker\|first7=Laurence\|last8=Carneiro\|first8=Fatima\|last9=MacPherson\|first9=Nicol\|date=2002-11\|title=Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma\|url=https://pubmed.ncbi.nlm.nih.gov/12450792\|journal=Cancer Cell\|volume=2\|issue=5\|pages=367–376\|doi=10.1016/s1535-6108(02)00180-0\|issn=1535-6108\|pmid=12450792}}</ref><ref>{{Cite journal\|last=Alessandri\|first=A. J.\|last2=Knezevich\|first2=S. R.\|last3=Mathers\|first3=J. A.\|last4=Schultz\|first4=K. R.\|last5=Sorensen\|first5=P. H.\|date=2001-10\|title=Absence of t(12;15) associated ETV6-NTRK3 fusion transcripts in pediatric acute leukemias\|url=https://pubmed.ncbi.nlm.nih.gov/11568911\|journal=Medical and Pediatric Oncology\|volume=37\|issue=4\|pages=415–416\|doi=10.1002/mpo.1222\|issn=0098-1532\|pmid=11568911}}</ref> The ''ETV6::NTRK3'' responded to the ALK inhibitory crizotinib.<ref>{{Cite journal\|last=Roberts\|first=Kathryn G.\|last2=Li\|first2=Yongjin\|last3=Payne-Turner\|first3=Debbie\|last4=Harvey\|first4=Richard C.\|last5=Yang\|first5=Yung-Li\|last6=Pei\|first6=Deqing\|last7=McCastlain\|first7=Kelly\|last8=Ding\|first8=Li\|last9=Lu\|first9=Charles\|date=2014-09-11\|title=Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/25207766\|journal=The New England Journal of Medicine\|volume=371\|issue=11\|pages=1005–1015\|doi=10.1056/NEJMoa1403088\|issn=1533-4406\|pmc=4191900\|pmid=25207766}}</ref> Prognosis is not well defined due to the small number of cases.
	\|-		\|-
	\|ALK		\|ALK

Rolando.Garcia: /* Gene Rearrangements */

2025-03-11T15:58:25Z

Gene Rearrangements

← Older revision		Revision as of 10:58, 11 March 2025
Line 97:		Line 97:
	\|inv(2)(p23q13) / t(2;2)(p23;q13)<ref>{{Cite journal\|last=Röttgers\|first=S.\|last2=Gombert\|first2=M.\|last3=Teigler-Schlegel\|first3=A.\|last4=Busch\|first4=K.\|last5=Gamerdinger\|first5=U.\|last6=Slany\|first6=R.\|last7=Harbott\|first7=J.\|last8=Borkhardt\|first8=A.\|date=2010-06\|title=ALK fusion genes in children with atypical myeloproliferative leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/20428197\|journal=Leukemia\|volume=24\|issue=6\|pages=1197–1200\|doi=10.1038/leu.2010.18\|issn=1476-5551\|pmid=20428197}}</ref> <ref>{{Cite journal\|last=Lim\|first=Ji-Hun\|last2=Jang\|first2=Seongsoo\|last3=Park\|first3=Chan-Jeoung\|last4=Cho\|first4=Young-Uk\|last5=Lee\|first5=Je-Hwan\|last6=Lee\|first6=Kyoo-Hyung\|last7=Lee\|first7=Jin-Ok\|last8=Shin\|first8=Jong-Yeon\|last9=Kim\|first9=Jong-Il\|date=2014\|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/24613277\|journal=Cancer Genetics\|volume=207\|issue=1-2\|pages=40–45\|doi=10.1016/j.cancergen.2013.12.003\|issn=2210-7762\|pmid=24613277}}</ref>		\|inv(2)(p23q13) / t(2;2)(p23;q13)<ref>{{Cite journal\|last=Röttgers\|first=S.\|last2=Gombert\|first2=M.\|last3=Teigler-Schlegel\|first3=A.\|last4=Busch\|first4=K.\|last5=Gamerdinger\|first5=U.\|last6=Slany\|first6=R.\|last7=Harbott\|first7=J.\|last8=Borkhardt\|first8=A.\|date=2010-06\|title=ALK fusion genes in children with atypical myeloproliferative leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/20428197\|journal=Leukemia\|volume=24\|issue=6\|pages=1197–1200\|doi=10.1038/leu.2010.18\|issn=1476-5551\|pmid=20428197}}</ref> <ref>{{Cite journal\|last=Lim\|first=Ji-Hun\|last2=Jang\|first2=Seongsoo\|last3=Park\|first3=Chan-Jeoung\|last4=Cho\|first4=Young-Uk\|last5=Lee\|first5=Je-Hwan\|last6=Lee\|first6=Kyoo-Hyung\|last7=Lee\|first7=Jin-Ok\|last8=Shin\|first8=Jong-Yeon\|last9=Kim\|first9=Jong-Il\|date=2014\|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/24613277\|journal=Cancer Genetics\|volume=207\|issue=1-2\|pages=40–45\|doi=10.1016/j.cancergen.2013.12.003\|issn=2210-7762\|pmid=24613277}}</ref>
	\|Rare < 5%		\|Rare < 5%
	\|~~<span class="blue-text">EXAMPLE:</span>~~ D, P, T		\|D, P, T
	\|Yes (WHO)		\|Yes (WHO)
	\|Resistant to intensive chemotherapy and allogeneic SCT. Poor clinical outcome.<ref>{{Cite journal\|last=Lim\|first=Ji-Hun\|last2=Jang\|first2=Seongsoo\|last3=Park\|first3=Chan-Jeoung\|last4=Cho\|first4=Young-Uk\|last5=Lee\|first5=Je-Hwan\|last6=Lee\|first6=Kyoo-Hyung\|last7=Lee\|first7=Jin-Ok\|last8=Shin\|first8=Jong-Yeon\|last9=Kim\|first9=Jong-Il\|date=2014\|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/24613277\|journal=Cancer Genetics\|volume=207\|issue=1-2\|pages=40–45\|doi=10.1016/j.cancergen.2013.12.003\|issn=2210-7762\|pmid=24613277}}</ref> Prognosis is not well defined due to the small number of cases.		\|Resistant to intensive chemotherapy and allogeneic SCT. Poor clinical outcome.<ref>{{Cite journal\|last=Lim\|first=Ji-Hun\|last2=Jang\|first2=Seongsoo\|last3=Park\|first3=Chan-Jeoung\|last4=Cho\|first4=Young-Uk\|last5=Lee\|first5=Je-Hwan\|last6=Lee\|first6=Kyoo-Hyung\|last7=Lee\|first7=Jin-Ok\|last8=Shin\|first8=Jong-Yeon\|last9=Kim\|first9=Jong-Il\|date=2014\|title=RANBP2-ALK fusion combined with monosomy 7 in acute myelomonocytic leukemia\|url=https://pubmed.ncbi.nlm.nih.gov/24613277\|journal=Cancer Genetics\|volume=207\|issue=1-2\|pages=40–45\|doi=10.1016/j.cancergen.2013.12.003\|issn=2210-7762\|pmid=24613277}}</ref> Prognosis is not well defined due to the small number of cases.
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	''RET''		''RET''


	\|''BCR::RET''<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref>		\|''BCR::RET''<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref>
	\|		\|Fusion between ''BCR'' exon 4 with the ''RET'' exon 12 (5′ to 3′ orientation).<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref> Aberrant expression of the kinase domain.
	\|t(10;22)(q11;q11)<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref>		\|t(10;22)(q11;q11)<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref>
	\|		\|Rare <5%
	\|		\|D, P, T
	\|		\|Yes (WHO)
	\|		\|


	Sensitive to Sorafenib, an inhibitor to tyrosine kinase activity.		Associated with chronic myelomonocytic leukemia and monocytic differentiation. Sensitive to Sorafenib, an inhibitor to tyrosine kinase activity.<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref> The prognosis not well defined due to the limited number of cases.


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	''RET''		''RET''


	\|''FGFR1OP::RET''<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref>		\|''FGFR1OP::RET''<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref>
	\|Fusion between ''FGFR1OP'' exon 12 with ''RET'' exon 12.<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref>		\|Fusion between ''FGFR1OP'' exon 12 with ''RET'' exon 12 (5′ to 3′ orientation).<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref> Abnormal expression of the tyrosine kinase domain.
	\|t(6;10)(q27;q11)<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref>		\|t(6;10)(q27;q11)<ref>{{Cite journal\|last=Ballerini\|first=P.\|last2=Struski\|first2=S.\|last3=Cresson\|first3=C.\|last4=Prade\|first4=N.\|last5=Toujani\|first5=S.\|last6=Deswarte\|first6=C.\|last7=Dobbelstein\|first7=S.\|last8=Petit\|first8=A.\|last9=Lapillonne\|first9=H.\|date=2012-11\|title=RET fusion genes are associated with chronic myelomonocytic leukemia and enhance monocytic differentiation\|url=https://pubmed.ncbi.nlm.nih.gov/22513837\|journal=Leukemia\|volume=26\|issue=11\|pages=2384–2389\|doi=10.1038/leu.2012.109\|issn=1476-5551\|pmid=22513837}}</ref>
	\|		\|Rare <5%
	\|		\|D, P, T
	\|		\|Yes (WHO)
	\|		\|Associated with chronic myelomonocytic leukemia and monocytic differentiation. The prognosis remains unclear due to the limited number of cases.
	\|}		\|}
	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==