HAEM5:B-lymphoblastic leukaemia/lymphoma with iAMP21 - Revision history

Sumire.Kitahara: /* Additional Information */

2025-10-11T00:44:13Z

Additional Information

← Older revision		Revision as of 19:44, 10 October 2025
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	\|}Cytogenetic morphology of the abnormal chromosome 21 can vary markedly between patients.<ref name=":3">{{Cite journal\|last=Harewood\|first=L.\|last2=Robinson\|first2=H.\|last3=Harris\|first3=R.\|last4=Al-Obaidi\|first4=M. Jabbar\|last5=Jalali\|first5=G. R.\|last6=Martineau\|first6=M.\|last7=Moorman\|first7=A. V.\|last8=Sumption\|first8=N.\|last9=Richards\|first9=S.\|date=2003-03\|title=Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases\|url=https://pubmed.ncbi.nlm.nih.gov/12646943\|journal=Leukemia\|volume=17\|issue=3\|pages=547–553\|doi=10.1038/sj.leu.2402849\|issn=0887-6924\|pmid=12646943}}</ref> In ~80% of iAMP21 B-ALL cases, recurrent secondary abnormalities, both chromosomal and molecular, have been documented. Deletions involving particular genes such as; ''IKZF1, CDKN2A/B, PAX5, SH2B3, ETV6'' and ''RB1'' have also been observed.[[File:IAMP21 met.jpg\|center\|thumb\|875x875px\|iAMP21 in a ring formation; Courtesy of Fullerton Genetics Lab]]		\|}Cytogenetic morphology of the abnormal chromosome 21 can vary markedly between patients.<ref name=":3">{{Cite journal\|last=Harewood\|first=L.\|last2=Robinson\|first2=H.\|last3=Harris\|first3=R.\|last4=Al-Obaidi\|first4=M. Jabbar\|last5=Jalali\|first5=G. R.\|last6=Martineau\|first6=M.\|last7=Moorman\|first7=A. V.\|last8=Sumption\|first8=N.\|last9=Richards\|first9=S.\|date=2003-03\|title=Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases\|url=https://pubmed.ncbi.nlm.nih.gov/12646943\|journal=Leukemia\|volume=17\|issue=3\|pages=547–553\|doi=10.1038/sj.leu.2402849\|issn=0887-6924\|pmid=12646943}}</ref> In ~80% of iAMP21 B-ALL cases, recurrent secondary abnormalities, both chromosomal and molecular, have been documented. Deletions involving particular genes such as; ''IKZF1, CDKN2A/B, PAX5, SH2B3, ETV6'' and ''RB1'' have also been observed.[[File:IAMP21 met.jpg\|center\|thumb\|875x875px\|iAMP21 in a ring formation; Courtesy of Fullerton Genetics Lab\|link=Special:FilePath/IAMP21_met.jpg]]

	==Characteristic Chromosomal or Other Global Mutational Patterns==		==Characteristic Chromosomal or Other Global Mutational Patterns==
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	*~50% of cases are classified as high-risk based on an age of ≥10 years.<ref name=":1">{{Cite journal\|last=Harrison\|first=Christine J.\|date=2015-02-26\|title=Blood Spotlight on iAMP21 acute lymphoblastic leukemia (ALL), a high-risk pediatric disease\|url=https://pubmed.ncbi.nlm.nih.gov/25608562\|journal=Blood\|volume=125\|issue=9\|pages=1383–1386\|doi=10.1182/blood-2014-08-569228\|issn=1528-0020\|pmid=25608562}}</ref> Pediatric iAMP21 has been associated with a poor outcome. It displays an increased rate of relapse when treated on standard protocols. Further, the event-free survival and overall survival were significantly worse for individuals with the iAMP21 and standard-risk B-ALL, but not significant in individuals with iAMP21 and high-risk B-ALL.		*~50% of cases are classified as high-risk based on an age of ≥10 years.<ref name=":1">{{Cite journal\|last=Harrison\|first=Christine J.\|date=2015-02-26\|title=Blood Spotlight on iAMP21 acute lymphoblastic leukemia (ALL), a high-risk pediatric disease\|url=https://pubmed.ncbi.nlm.nih.gov/25608562\|journal=Blood\|volume=125\|issue=9\|pages=1383–1386\|doi=10.1182/blood-2014-08-569228\|issn=1528-0020\|pmid=25608562}}</ref> Pediatric iAMP21 has been associated with a poor outcome. It displays an increased rate of relapse when treated on standard protocols. Further, the event-free survival and overall survival were significantly worse for individuals with the iAMP21 and standard-risk B-ALL, but not significant in individuals with iAMP21 and high-risk B-ALL.
	*Laboratory findings - Low platelet count; Low WBC count (<50,000/μl)

	~~The <u>sites of involvement</u> of this disease are detailed below:~~

	*Bone Marrow and peripheral blood

	~~The <u>morphologic features</u> of this disease are detailed below:~~

	*There are no unique morphological or cytochemical features that distinguish this entity from other types of ALL.<ref name=":02" />

	~~The <u>immunophenotype</u> of this disease is detailed below:~~

	*No detailed information is known, other than these cases occur exclusively in B-ALL.<ref name=":02" />

	==Links==		==Links==

Sumire.Kitahara: /* Characteristic Chromosomal or Other Global Mutational Patterns */

2025-10-11T00:42:37Z

Characteristic Chromosomal or Other Global Mutational Patterns

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Sumire.Kitahara: /* Gene Rearrangements */

2025-10-11T00:03:12Z

Gene Rearrangements

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Bailey.Glen at 17:11, 3 July 2025

2025-07-03T17:11:14Z

← Older revision		Revision as of 12:11, 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)*
	\|
	\|-
	\|WHO Desirable Criteria (Genetics)*
	\|
	\|-
	~~\|Other Classification~~
	\|
	\|}
	<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 21:30, 25 May 2025

2025-05-25T21:30:38Z

← Older revision		Revision as of 16:30, 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''
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	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Gene; Genetic Alteration!!~~'''~~Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)~~'''~~!!~~'''~~Prevalence (COSMIC / TCGA / Other)~~'''~~!!~~'''~~Concomitant Mutations~~'''~~!!~~'''~~Mutually Exclusive Mutations~~'''~~		!Gene; Genetic Alteration!!Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)!!Prevalence (COSMIC / TCGA / Other)!!Concomitant Mutations!!Mutually Exclusive Mutations
	!~~'''~~Diagnostic Significance (Yes, No or Unknown)~~'''~~		!Diagnostic Significance (Yes, No or Unknown)
	!Prognostic Significance (Yes, No or Unknown)		!Prognostic Significance (Yes, No or Unknown)
	!Therapeutic Significance (Yes, No or Unknown)		!Therapeutic Significance (Yes, No or Unknown)

Bailey.Glen at 20:07, 25 May 2025

2025-05-25T20:07:01Z

← Older revision		Revision as of 15:07, 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
	\|		\|N/A
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|N/A
	\|}		\|}

Bailey.Glen at 17:33, 24 March 2025

2025-03-24T17:33:41Z

← Older revision		Revision as of 12:33, 24 March 2025
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	{{DISPLAYTITLE:B-lymphoblastic leukaemia/lymphoma with iAMP21}}		{{DISPLAYTITLE:B-lymphoblastic leukaemia/lymphoma with iAMP21}}

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

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	Holli M. Drendel, PhD, FACMGG, Carolinas Pathology Group, Charlotte		Holli M. Drendel, PhD, FACMGG, Carolinas Pathology Group, Charlotte

	~~__TOC__~~

	==WHO Classification of Disease==		==WHO Classification of Disease==

Jennelleh at 14:21, 28 February 2025

2025-02-28T14:21:15Z

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Jennelleh at 14:20, 28 February 2025

2025-02-28T14:20:43Z

@@ Line 1: / Line 1: @@
 {{DISPLAYTITLE:B-lymphoblastic leukaemia/lymphoma with iAMP21}}
 [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
@@ Line 47: / Line 48: @@
 ==Clinical Features==
-~50% of cases are classified as high-risk based on an age of ≥10 years.<ref>{{Cite journal|last=Harrison|first=Christine J.|date=2015-02-26|title=Blood Spotlight on iAMP21 acute lymphoblastic leukemia (ALL), a high-risk pediatric disease|url=https://pubmed.ncbi.nlm.nih.gov/25608562|journal=Blood|volume=125|issue=9|pages=1383–1386|doi=10.1182/blood-2014-08-569228|issn=1528-0020|pmid=25608562}}</ref> Pediatric iAMP21 has been associated with a poor outcome. It displays an increased rate of relapse when treated on standard protocols. Further, the event-free survival and overall survival were significantly worse for individuals with the iAMP21 and standard-risk B-ALL, but not significant in individuals with iAMP21 and high-risk B-ALL.
+~50% of cases are classified as high-risk based on an age of ≥10 years.<ref name=":1">{{Cite journal|last=Harrison|first=Christine J.|date=2015-02-26|title=Blood Spotlight on iAMP21 acute lymphoblastic leukemia (ALL), a high-risk pediatric disease|url=https://pubmed.ncbi.nlm.nih.gov/25608562|journal=Blood|volume=125|issue=9|pages=1383–1386|doi=10.1182/blood-2014-08-569228|issn=1528-0020|pmid=25608562}}</ref> Pediatric iAMP21 has been associated with a poor outcome. It displays an increased rate of relapse when treated on standard protocols. Further, the event-free survival and overall survival were significantly worse for individuals with the iAMP21 and standard-risk B-ALL, but not significant in individuals with iAMP21 and high-risk B-ALL.
 {| class="wikitable"
 |'''Signs and Symptoms'''
@@ Line 65: / Line 66: @@
 There are no unique morphological or cytochemical features that distinguish this entity from other types of ALL.<ref name=":02" />
-Cytogenetic morphology of the abnormal chromosome 21 can vary markedly between patients.<ref>{{Cite journal|last=Harewood|first=L.|last2=Robinson|first2=H.|last3=Harris|first3=R.|last4=Al-Obaidi|first4=M. Jabbar|last5=Jalali|first5=G. R.|last6=Martineau|first6=M.|last7=Moorman|first7=A. V.|last8=Sumption|first8=N.|last9=Richards|first9=S.|date=2003-03|title=Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases|url=https://pubmed.ncbi.nlm.nih.gov/12646943|journal=Leukemia|volume=17|issue=3|pages=547–553|doi=10.1038/sj.leu.2402849|issn=0887-6924|pmid=12646943}}</ref>
+Cytogenetic morphology of the abnormal chromosome 21 can vary markedly between patients.<ref name=":3">{{Cite journal|last=Harewood|first=L.|last2=Robinson|first2=H.|last3=Harris|first3=R.|last4=Al-Obaidi|first4=M. Jabbar|last5=Jalali|first5=G. R.|last6=Martineau|first6=M.|last7=Moorman|first7=A. V.|last8=Sumption|first8=N.|last9=Richards|first9=S.|date=2003-03|title=Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases|url=https://pubmed.ncbi.nlm.nih.gov/12646943|journal=Leukemia|volume=17|issue=3|pages=547–553|doi=10.1038/sj.leu.2402849|issn=0887-6924|pmid=12646943}}</ref>
 <br />
 [[File:IAMP21 met.jpg|center|thumb|875x875px|iAMP21 in a ring formation; Courtesy of Fullerton Genetics Lab]]
@@ Line 260: / Line 261: @@
+|
 |}
 In ~80% of iAMP21 B-ALL cases, recurrent secondary abnormalities, both chromosomal and molecular, have been documented. Deletions involving particular genes such as; ''IKZF1, CDKN2A/B, PAX5, SH2B3, ETV6'' and ''RB1'' have also been observed.
@@ Line 550: / Line 556: @@
 ==Additional Information==
-N/A
+This disease is <u>defined/characterized</u> as detailed below:
 ==Links==

Jennelleh: Reverted edits by Jennelleh (talk) to last revision by Bailey.Glen

2025-02-28T14:14:40Z

Reverted edits by Jennelleh (talk) to last revision by Bailey.Glen

Show changes