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

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{{DISPLAYTITLE:Breast implant-associated anaplastic large cell lymphoma}}
 
{{DISPLAYTITLE:Breast implant-associated anaplastic large cell lymphoma}}
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[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
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[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]
  
 
{{Under Construction}}
 
{{Under Construction}}
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}}</blockquote>
 
}}</blockquote>
  
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<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==
  
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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>
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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}}
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<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==
  
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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
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|Positive (universal)||EXAMPLE CD1
 
|-
 
|-
−
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
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|Positive (subset)||EXAMPLE CD2
 
|-
 
|-
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|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
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|Negative (universal)||EXAMPLE CD3
 
|-
 
|-
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|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
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|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}}
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<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)
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|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
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<span class="blue-text">EXAMPLE:</span> 30% (add reference)
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EXAMPLE 30% (add reference)
 
|Yes
 
|Yes
 
|No
 
|No
 
|Yes
 
|Yes
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|<span class="blue-text">EXAMPLE:</span>
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|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}}
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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.}}
  
 
*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:
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<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>
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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>
  
 
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!Notes
 
!Notes
 
|-
 
|-
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|<span class="blue-text">EXAMPLE:</span>
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|EXAMPLE
  
 
7
 
7
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|<span class="blue-text">EXAMPLE:</span> Loss
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|EXAMPLE Loss
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|<span class="blue-text">EXAMPLE:</span>
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|EXAMPLE
  
 
chr7:1- 159,335,973 [hg38]
 
chr7:1- 159,335,973 [hg38]
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|<span class="blue-text">EXAMPLE:</span>
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|EXAMPLE
  
 
chr7
 
chr7
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|Yes
 
|Yes
 
|No
 
|No
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|<span class="blue-text">EXAMPLE:</span>
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|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>
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|EXAMPLE
  
 
8
 
8
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|<span class="blue-text">EXAMPLE:</span> Gain
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|EXAMPLE Gain
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|<span class="blue-text">EXAMPLE:</span>
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|EXAMPLE
  
 
chr8:1-145,138,636 [hg38]
 
chr8:1-145,138,636 [hg38]
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|<span class="blue-text">EXAMPLE:</span>
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|EXAMPLE
  
 
chr8
 
chr8
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|No
 
|No
 
|No
 
|No
−
|<span class="blue-text">EXAMPLE:</span>
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|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}}
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<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>
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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>
  
 
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{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>
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|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>
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|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}}
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<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
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|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}}
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<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==
  
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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
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|EXAMPLE: BRAF and MAP2K1; Activating mutations
−
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
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|EXAMPLE: MAPK signaling
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|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
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|EXAMPLE: Increased cell growth and proliferation
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
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|EXAMPLE: CDKN2A; Inactivating mutations
−
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
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|EXAMPLE: Cell cycle regulation
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|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
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|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
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|EXAMPLE:  Histone modification, chromatin remodeling
−
|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program
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|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" />

Revision as of 19:27, 3 September 2024

Haematolymphoid Tumours (5th ed.)

editHAEM5 Conversion Notes
This page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:Breast Implant-Associated Anaplastic Large Cell Lymphoma.

(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use HUGO-approved gene names and symbols (italicized when appropriate), 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 Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support)

Primary Author(s)*

Derick Okwan-Duodu, MD, PhD; Sumire Kitahara, MD

Cedars-Sinai Medical Center

Cancer Category / Type

Cancer Sub-Classification / Subtype

Definition / Description of Disease

  • Provisional entity in WHO 2016 classification
  • Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare T-cell lymphoproliferative disorder that occurs in patients with breast implants.
  • Belongs to the so-called triple negative category of systemic anaplastic large cell lymphomas (sALCL)[1]

Synonyms / Terminology

  • Seroma-associated anaplastic large cell lymphoma

Epidemiology / Prevalence

  • Rare (fewer than 1 in 100,000 with implants)[2]
  • No association with type of implant (silicone vs. saline, textured vs. smooth)[2]
  • Median time to lymphoma diagnosis after implant is 8-9 years[2]
  • Mean age 50[2]

Clinical Features

Put your text here and fill in the table (Instruction: Can include references in the table)

Signs and Symptoms EXAMPLE Asymptomatic (incidental finding on complete blood counts)

EXAMPLE B-symptoms (weight loss, fever, night sweats)

EXAMPLE Fatigue

EXAMPLE Lymphadenopathy (uncommon)

Laboratory Findings EXAMPLE Cytopenias

EXAMPLE Lymphocytosis (low level)


editv4:Clinical Features
The content below was from the old template. Please incorporate above.
  • Pain, swelling around implant[3]
  • Peri-implant effusion most common (approximately 80% cases)[3]
  • Axillary lymphadenopathy[3]
  • Extracapsular extension to form a solid mass of tumor cells possible[3]

Sites of Involvement

  • Peri-implant (Stage I)
  • Extracapsular dissemination not uncommon

Morphologic Features

Immunophenotype

Put your text here and fill in the table (Instruction: Can include references in the table)

Finding Marker
Positive (universal) EXAMPLE CD1
Positive (subset) EXAMPLE CD2
Negative (universal) EXAMPLE CD3
Negative (subset) EXAMPLE CD4


editv4:Immunophenotype
The content below was from the old template. Please incorporate above.
Finding[1][6] Marker
Positive (universal) CD30
Positive (frequent) Varying pan T-cell antigen expression (CD3, CD2, CD5, CD7, CD4, CD8), MUM1
Negative (universal) ALK

Chromosomal Rearrangements (Gene Fusions)

Put your text here and fill in the table

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 20% (COSMIC)

EXAMPLE 30% (add reference)

Yes No Yes 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).


editv4:Chromosomal Rearrangements (Gene Fusions)
The content below was from the old template. Please incorporate above.
  • Not described


editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).
Please incorporate this section into the relevant tables found in:
  • Chromosomal Rearrangements (Gene Fusions)
  • Individual Region Genomic Gain/Loss/LOH
  • Characteristic Chromosomal Patterns
  • Gene Mutations (SNV/INDEL)

THIS SECTION IS REALLY FOR THE DIAGNOSTIC, PROGNOSTIC, AND THERAPEUTIC SIGNIFICANCE OF THE MOLECULAR CHANGES FOUND IN THIS ENTITY. YOU CAN KEEP THE WORK YOU HAVE DONE BUT PERHAPS MOVE IT TO "OTHER INFORMATION" SECTION?

  • Diagnosis
    • Clinical history (skin rash, ulcer or skin mass > 1 year after breast implant),
    • Ultrasound or MRI
    • Fine needle aspiration or tissue biopsy for morphologic and immunophenotypic analysis
    • For disseminated disease, clinical history of breast implants and negative DUSP22 and TP63 FISH studies strongly supports diagnosis and makes other sALCL's unlikely
  • Prognosis
    • Excellent prognosis (median survival over 12 years)
    • If extracapsular extension present, systemic therapy may be indicated
  • Therapeutic Implications
    • Focal disease: capsulectomy and implant removal followed by radiotherapy or watchful waiting
    • Disseminated disease: systemic therapy
    • Anthracyclin-based chemotherapy with brentuximab-vedotin superior to chemotherapy alone[7]


editUnassigned References
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[8][9][4]

Individual Region Genomic Gain / Loss / LOH

Put your text here and fill in the table (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.)

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE

7

EXAMPLE Loss EXAMPLE

chr7:1- 159,335,973 [hg38]

EXAMPLE

chr7

Yes Yes No 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).

EXAMPLE

8

EXAMPLE Gain EXAMPLE

chr8:1-145,138,636 [hg38]

EXAMPLE

chr8

No No No EXAMPLE

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

editv4:Genomic Gain/Loss/LOH
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  • N/A

Characteristic Chromosomal Patterns

Put your text here (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)

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE

Co-deletion of 1p and 18q

Yes No No EXAMPLE:

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

editv4:Characteristic Chromosomal Aberrations / Patterns
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  • N/A

Gene Mutations (SNV / INDEL)

Put your text here and fill in the table (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.)

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) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: TP53; Variable LOF mutations

EXAMPLE:

EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations

EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).


Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


editv4:Gene Mutations (SNV/INDEL)
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  • JAK1 and STAT3 mutation (variable pattern leads to activation)[10][11]


PUT IN THE TABLE FROM THE TEMPLATE, SO THE FREQUENCY OF THESE MUTATIONS AND THEIR SIGNIFICANCE CAN BE ENTERED.

Epigenomic Alterations

  • Not described

Genes and Main Pathways Involved

Put your text here and fill in the table (Instructions: Can include references in the table.)

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations EXAMPLE: MAPK signaling EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE:  KMT2C and ARID1A; Inactivating mutations EXAMPLE:  Histone modification, chromatin remodeling EXAMPLE:  Abnormal gene expression program
editv4:Genes and Main Pathways Involved
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Genetic Diagnostic Testing Methods

  • Morphologic and immunohistochemical evaluation of aspirated seroma/effusion fluid and/or capsulectomy specimen
  • Exclude secondary involvement by systemic ALK(-) ALCL

Familial Forms

  • None

Additional Information

  • None

Links

References

(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking on where you want to insert the reference, selecting the “Cite” icon at the top of the page, and using the “Automatic” tab option to search such as by PMID to select the reference to insert. The reference list in this section will be automatically generated and sorted. 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.)

  1. ↑ 1.0 1.1 1.2 1.3 N, Oishi; et al. (2018). "Genetic subtyping of breast implant-associated anaplastic large cell lymphoma". doi:10.1182/blood-2017-12-821868. PMC 6073323. PMID 29921615.CS1 maint: PMC format (link)
  2. ↑ 2.0 2.1 2.2 2.3 Gs, Brody; et al. (2015). "Anaplastic large cell lymphoma occurring in women with breast implants: analysis of 173 cases". PMID 25490535.
  3. ↑ 3.0 3.1 3.2 3.3 D, Lazzeri; et al. (2011). "ALK-1-negative anaplastic large cell lymphoma associated with breast implants: a new clinical entity". PMID 21729665.
  4. ↑ 4.0 4.1 4.2 Rn, Miranda; et al. (2014). "Breast implant-associated anaplastic large-cell lymphoma: long-term follow-up of 60 patients". doi:10.1200/JCO.2013.52.7911. PMC 4062709. PMID 24323027.CS1 maint: PMC format (link)
  5. ↑ 5.0 5.1 Sh, Swerdlow; et al. (2016). "The 2016 revision of the World Health Organization classification of lymphoid neoplasms". doi:10.1182/blood-2016-01-643569. PMC 4874220. PMID 26980727.CS1 maint: PMC format (link)
  6. ↑ Ae, Quesada; et al. (2019). "Breast implant-associated anaplastic large cell lymphoma: a review". PMID 30206414.
  7. ↑ L, Johnson; et al. (2017). "Breast implant associated anaplastic large cell lymphoma: The UK experience. Recommendations on its management and implications for informed consent". PMID 28596034.
  8. ↑ Mw, Clemens; et al. (2019). "2019 NCCN Consensus Guidelines on the Diagnosis and Treatment of Breast Implant-Associated Anaplastic Large Cell Lymphoma (BIA-ALCL)". PMID 30715173.
  9. ↑ Mc, Ferrufino-Schmidt; et al. (2018). "Clinicopathologic Features and Prognostic Impact of Lymph Node Involvement in Patients With Breast Implant-associated Anaplastic Large Cell Lymphoma". PMID 29194092.
  10. ↑ P, Blombery; et al. (2016). "Whole exome sequencing reveals activating JAK1 and STAT3 mutations in breast implant-associated anaplastic large cell lymphoma anaplastic large cell lymphoma". doi:10.3324/haematol.2016.146118. PMC 5060038. PMID 27198716.CS1 maint: PMC format (link)
  11. ↑ A, Di Napoli; et al. (2018). "Targeted next generation sequencing of breast implant-associated anaplastic large cell lymphoma reveals mutations in JAK/STAT signalling pathway genes, TP53 and DNMT3A". PMID 27859003.
  12. ↑ 12.0 12.1 Kim, Won Seog (2017-11-30). "Faculty Opinions recommendation of Breast implant-associated anaplastic large cell lymphoma: two distinct clinicopathological variants with different outcomes".

Notes

*Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome. *Citation of this Page: “Breast implant-associated anaplastic large cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 09/3/2024, https://ccga.io/index.php/HAEM5:Breast_implant-associated_anaplastic_large_cell_lymphoma.

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