Compendium of Cancer Genome Aberrations

HAEM5:Breast implant-associated anaplastic large cell lymphoma: Difference between revisions

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{{DISPLAYTITLE:Breast implant-associated anaplastic large cell lymphoma}}
{{DISPLAYTITLE:Breast implant-associated anaplastic large cell lymphoma}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]


{{Under Construction}}
{{Under Construction}}
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}}</blockquote>
}}</blockquote>


<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column to a table, click nearby within the table and select the > symbol that appears to be given options. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>
<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>


==Primary Author(s)*==
==Primary Author(s)*==
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==Clinical Features==
==Clinical Features==


Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
{| class="wikitable"
{| class="wikitable"
|'''Signs and Symptoms'''
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)


<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
EXAMPLE B-symptoms (weight loss, fever, night sweats)


<span class="blue-text">EXAMPLE:</span> Fatigue
EXAMPLE Fatigue


<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
EXAMPLE Lymphadenopathy (uncommon)
|-
|-
|'''Laboratory Findings'''
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
|EXAMPLE Cytopenias


<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
EXAMPLE Lymphocytosis (low level)
|}
|}




<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the old template. Please incorporate above.}}


*Pain, swelling around implant<ref name=":3">{{Cite journal|last=D|first=Lazzeri|last2=T|first2=Agostini|last3=G|first3=Bocci|last4=G|first4=Giannotti|last5=G|first5=Fanelli|last6=Ag|first6=Naccarato|last7=R|first7=Danesi|last8=M|first8=Tuccori|last9=M|first9=Pantaloni|date=2011|title=ALK-1-negative anaplastic large cell lymphoma associated with breast implants: a new clinical entity|url=https://pubmed.ncbi.nlm.nih.gov/21729665/|language=en|pmid=21729665}}</ref>
*Pain, swelling around implant<ref name=":3">{{Cite journal|last=D|first=Lazzeri|last2=T|first2=Agostini|last3=G|first3=Bocci|last4=G|first4=Giannotti|last5=G|first5=Fanelli|last6=Ag|first6=Naccarato|last7=R|first7=Danesi|last8=M|first8=Tuccori|last9=M|first9=Pantaloni|date=2011|title=ALK-1-negative anaplastic large cell lymphoma associated with breast implants: a new clinical entity|url=https://pubmed.ncbi.nlm.nih.gov/21729665/|language=en|pmid=21729665}}</ref>
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==Immunophenotype==
==Immunophenotype==


Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Finding!!Marker
!Finding!!Marker
|-
|-
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
|Positive (universal)||EXAMPLE CD1
|-
|-
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
|Positive (subset)||EXAMPLE CD2
|-
|-
|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
|Negative (universal)||EXAMPLE CD3
|-
|-
|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
|Negative (subset)||EXAMPLE CD4
|}
|}




<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
EXAMPLE 30% (add reference)
|Yes
|Yes
|No
|No
|Yes
|Yes
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}


*Not described
*Not described
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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Please incorporate this section into the relevant tables found in:
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
* Chromosomal Rearrangements (Gene Fusions)
* Chromosomal Rearrangements (Gene Fusions)
* Individual Region Genomic Gain/Loss/LOH
* Individual Region Genomic Gain/Loss/LOH
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==Individual Region Genomic Gain / Loss / LOH==
==Individual Region Genomic Gain / Loss / LOH==


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable. Do not delete table.'') </span>
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.'') </span>


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


7
7
|<span class="blue-text">EXAMPLE:</span> Loss
|EXAMPLE Loss
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


chr7:1- 159,335,973 [hg38]
chr7:1- 159,335,973 [hg38]
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


chr7
chr7
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|Yes
|Yes
|No
|No
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


8
8
|<span class="blue-text">EXAMPLE:</span> Gain
|EXAMPLE Gain
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


chr8:1-145,138,636 [hg38]
chr8:1-145,138,636 [hg38]
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


chr8
chr8
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|No
|No
|No
|No
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


Common recurrent secondary finding for t(8;21) (add reference).
Common recurrent secondary finding for t(8;21) (add reference).
|}
|}


<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}


*N/A
*N/A
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==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal Patterns==


Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: 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. Do not delete table.'')</span>
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: 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'')</span>


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


Co-deletion of 1p and 18q
Co-deletion of 1p and 18q
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|No
|No
|No
|No
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE:


See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|}
|}


<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}


*N/A
*N/A
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==Gene Mutations (SNV / INDEL)==
==Gene Mutations (SNV / INDEL)==


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well as either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable. Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Do not delete table.'') </span>
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.'') </span>


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations
|EXAMPLE: TP53; Variable LOF mutations


<span class="blue-text">EXAMPLE:</span>
EXAMPLE:


EGFR; Exon 20 mutations
EGFR; Exon 20 mutations


<span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations
EXAMPLE: BRAF; Activating mutations
|<span class="blue-text">EXAMPLE:</span> TSG
|EXAMPLE: TSG
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
|EXAMPLE: 20% (COSMIC)


<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
EXAMPLE: 30% (add Reference)
|<span class="blue-text">EXAMPLE:</span> IDH1 R123H
|EXAMPLE: IDH1 R123H
|<span class="blue-text">EXAMPLE:</span> EGFR amplification
|EXAMPLE: EGFR amplification
|
|
|
|
|
|
|<span class="blue-text">EXAMPLE:</span>  Excludes hairy cell leukemia (HCL) (add reference).
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
<br />
<br />
|}
|}
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<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}


*JAK1 and STAT3 mutation (variable pattern leads to activation)<ref>{{Cite journal|last=P|first=Blombery|last2=Er|first2=Thompson|last3=K|first3=Jones|last4=Gm|first4=Arnau|last5=S|first5=Lade|last6=Jf|first6=Markham|last7=J|first7=Li|last8=A|first8=Deva|last9=Rw|first9=Johnstone|date=2016|title=Whole exome sequencing reveals activating JAK1 and STAT3 mutations in breast implant-associated anaplastic large cell lymphoma anaplastic large cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/27198716/|language=en|doi=10.3324/haematol.2016.146118|pmc=PMC5060038|pmid=27198716}}</ref><ref>{{Cite journal|last=A|first=Di Napoli|last2=P|first2=Jain|last3=E|first3=Duranti|last4=E|first4=Margolskee|last5=W|first5=Arancio|last6=F|first6=Facchetti|last7=B|first7=Alobeid|last8=F|first8=Santanelli di Pompeo|last9=M|first9=Mansukhani|date=2018|title=Targeted next generation sequencing of breast implant-associated anaplastic large cell lymphoma reveals mutations in JAK/STAT signalling pathway genes, TP53 and DNMT3A|url=https://pubmed.ncbi.nlm.nih.gov/27859003/|language=en|pmid=27859003}}</ref>
*JAK1 and STAT3 mutation (variable pattern leads to activation)<ref>{{Cite journal|last=P|first=Blombery|last2=Er|first2=Thompson|last3=K|first3=Jones|last4=Gm|first4=Arnau|last5=S|first5=Lade|last6=Jf|first6=Markham|last7=J|first7=Li|last8=A|first8=Deva|last9=Rw|first9=Johnstone|date=2016|title=Whole exome sequencing reveals activating JAK1 and STAT3 mutations in breast implant-associated anaplastic large cell lymphoma anaplastic large cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/27198716/|language=en|doi=10.3324/haematol.2016.146118|pmc=PMC5060038|pmid=27198716}}</ref><ref>{{Cite journal|last=A|first=Di Napoli|last2=P|first2=Jain|last3=E|first3=Duranti|last4=E|first4=Margolskee|last5=W|first5=Arancio|last6=F|first6=Facchetti|last7=B|first7=Alobeid|last8=F|first8=Santanelli di Pompeo|last9=M|first9=Mansukhani|date=2018|title=Targeted next generation sequencing of breast implant-associated anaplastic large cell lymphoma reveals mutations in JAK/STAT signalling pathway genes, TP53 and DNMT3A|url=https://pubmed.ncbi.nlm.nih.gov/27859003/|language=en|pmid=27859003}}</ref>
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==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table.'')</span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations
|EXAMPLE: BRAF and MAP2K1; Activating mutations
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|EXAMPLE: MAPK signaling
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|EXAMPLE: Increased cell growth and proliferation
|-
|-
|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
|EXAMPLE: CDKN2A; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|EXAMPLE: Cell cycle regulation
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|EXAMPLE: Unregulated cell division
|-
|-
|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations
|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span>  Histone modification, chromatin remodeling
|EXAMPLE:  Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program
|EXAMPLE:  Abnormal gene expression program
|}
|}


<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification}}
<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}


*JAK/STAT activation<ref name=":5">{{Cite journal|last=Kim|first=Won Seog|date=2017-11-30|title=Faculty Opinions recommendation of Breast implant-associated anaplastic large cell lymphoma: two distinct clinicopathological variants with different outcomes.|url=http://dx.doi.org/10.3410/f.725957551.793539732}}</ref><ref name=":1" />
*JAK/STAT activation<ref name=":5">{{Cite journal|last=Kim|first=Won Seog|date=2017-11-30|title=Faculty Opinions recommendation of Breast implant-associated anaplastic large cell lymphoma: two distinct clinicopathological variants with different outcomes.|url=http://dx.doi.org/10.3410/f.725957551.793539732}}</ref><ref name=":1" />
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