View source for HAEM5:Breast implant-associated anaplastic large cell lymphoma

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

{{Under Construction}}

<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|This page was converted to the new template on 2023-12-04. The original page can be found at [[HAEM4:Breast Implant-Associated Anaplastic Large Cell Lymphoma]].
}}</blockquote>
==Primary Author(s)*==

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

Cedars-Sinai Medical Center

__TOC__

==Cancer Category / Type==

* [[HAEM4:Mature T- and NK-cell Neoplasms]]

==Cancer Sub-Classification / Subtype==

* [[HAEM5:ALK-negative anaplastic large cell lymphoma]]

==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)<ref name=":1">{{Cite journal|last=N|first=Oishi|last2=Gs|first2=Brody|last3=Rp|first3=Ketterling|last4=Ds|first4=Viswanatha|last5=R|first5=He|last6=S|first6=Dasari|last7=M|first7=Mai|last8=Hk|first8=Benson|last9=Ca|first9=Sattler|date=2018|title=Genetic subtyping of breast implant-associated anaplastic large cell lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/29921615/|language=en|doi=10.1182/blood-2017-12-821868|pmc=PMC6073323|pmid=29921615}}</ref>

==Synonyms / Terminology==

* Seroma-associated anaplastic large cell lymphoma

==Epidemiology / Prevalence==

*Rare (fewer than 1 in 100,000 with implants)<ref name=":2">{{Cite journal|last=Gs|first=Brody|last2=D|first2=Deapen|last3=Cr|first3=Taylor|last4=L|first4=Pinter-Brown|last5=Sr|first5=House-Lightner|last6=Js|first6=Andersen|last7=G|first7=Carlson|last8=Mg|first8=Lechner|last9=Al|first9=Epstein|date=2015|title=Anaplastic large cell lymphoma occurring in women with breast implants: analysis of 173 cases|url=https://pubmed.ncbi.nlm.nih.gov/25490535/|language=en|pmid=25490535}}</ref>
*No association with type of implant (silicone vs. saline, textured vs. smooth)<ref name=":2" />
*Median time to lymphoma diagnosis after implant is 8-9 years<ref name=":2" />
*Mean age 50<ref name=":2" />

==Clinical Features==

Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>
{| class="wikitable"
|'''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)
|}


<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>
*Peri-implant effusion most common (approximately 80% cases)<ref name=":3" />
*Axillary lymphadenopathy<ref name=":3" />
*Extracapsular extension to form a solid mass of tumor cells possible<ref name=":3" />

</blockquote>
==Sites of Involvement==

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

==Morphologic Features==

*Large, pleomorphic<ref name=":0">{{Cite journal|last=Rn|first=Miranda|last2=Tn|first2=Aladily|last3=Hm|first3=Prince|last4=R|first4=Kanagal-Shamanna|last5=D|first5=de Jong|last6=Le|first6=Fayad|last7=Mb|first7=Amin|last8=N|first8=Haideri|last9=G|first9=Bhagat|date=2014|title=Breast implant-associated anaplastic large-cell lymphoma: long-term follow-up of 60 patients|url=https://pubmed.ncbi.nlm.nih.gov/24323027/|language=en|doi=10.1200/JCO.2013.52.7911|pmc=PMC4062709|pmid=24323027}}</ref><ref name=":4">{{Cite journal|last=Sh|first=Swerdlow|last2=E|first2=Campo|last3=Sa|first3=Pileri|last4=Nl|first4=Harris|last5=H|first5=Stein|last6=R|first6=Siebert|last7=R|first7=Advani|last8=M|first8=Ghielmini|last9=Ga|first9=Salles|date=2016|title=The 2016 revision of the World Health Organization classification of lymphoid neoplasms|url=https://pubmed.ncbi.nlm.nih.gov/26980727/|language=en|doi=10.1182/blood-2016-01-643569|pmc=PMC4874220|pmid=26980727}}</ref>
*Hallmark cells<ref name=":0" /><ref name=":4" />

==Immunophenotype==

Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table'') </span>

{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||EXAMPLE CD1
|-
|Positive (subset)||EXAMPLE CD2
|-
|Negative (universal)||EXAMPLE CD3
|-
|Negative (subset)||EXAMPLE CD4
|}


<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}

{| class="wikitable sortable"
|-
!Finding<ref name=":1" /><ref>{{Cite journal|last=Ae|first=Quesada|last2=Lj|first2=Medeiros|last3=Mw|first3=Clemens|last4=Mc|first4=Ferrufino-Schmidt|last5=S|first5=Pina-Oviedo|last6=Rn|first6=Miranda|date=2019|title=Breast implant-associated anaplastic large cell lymphoma: a review|url=https://pubmed.ncbi.nlm.nih.gov/30206414/|language=en|pmid=30206414}}</ref>!!Marker
|-
|Positive (universal)||CD30
|-
|Positive (frequent)
|Varying pan T-cell antigen expression (CD3, CD2, CD5, CD7, CD4, CD8), MUM1
|-
|Negative (universal)||ALK
|}

</blockquote>
==Chromosomal Rearrangements (Gene Fusions)==

Put your text here and fill in the table

{| class="wikitable sortable"
|-
!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).
|}		
			

<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}

*Not described

</blockquote>


<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)
* 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<ref>{{Cite journal|last=L|first=Johnson|last2=Jm|first2=O'Donoghue|last3=N|first3=McLean|last4=P|first4=Turton|last5=Aa|first5=Khan|last6=Sd|first6=Turner|last7=A|first7=Lennard|last8=N|first8=Collis|last9=M|first9=Butterworth|date=2017|title=Breast implant associated anaplastic large cell lymphoma: The UK experience. Recommendations on its management and implications for informed consent|url=https://pubmed.ncbi.nlm.nih.gov/28596034/|language=en|pmid=28596034}}</ref>


<blockquote class='blockedit'>{{Box-round|title=Unassigned References|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}<ref>{{Cite journal|last=Mw|first=Clemens|last2=Ed|first2=Jacobsen|last3=Sm|first3=Horwitz|date=2019|title=2019 NCCN Consensus Guidelines on the Diagnosis and Treatment of Breast Implant-Associated Anaplastic Large Cell Lymphoma (BIA-ALCL)|url=https://pubmed.ncbi.nlm.nih.gov/30715173/|language=en|pmid=30715173}}</ref><ref>{{Cite journal|last=Mc|first=Ferrufino-Schmidt|last2=Lj|first2=Medeiros|last3=H|first3=Liu|last4=Mw|first4=Clemens|last5=Kk|first5=Hunt|last6=C|first6=Laurent|last7=J|first7=Lofts|last8=Mb|first8=Amin|last9=S|first9=Ming Chai|date=2018|title=Clinicopathologic Features and Prognostic Impact of Lymph Node Involvement in Patients With Breast Implant-associated Anaplastic Large Cell Lymphoma|url=https://pubmed.ncbi.nlm.nih.gov/29194092/|language=en|pmid=29194092}}</ref><ref name=":0" /></blockquote>
</blockquote>
==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.'') </span>

{| class="wikitable sortable"
|-
!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).
|}

<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}

*N/A

</blockquote>
==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'')</span>

{| class="wikitable sortable"
|-
!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).
|}

<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Aberrations / Patterns|The content below was from the old template. Please incorporate above.}}

*N/A

</blockquote>
==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 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"
|-
!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).
<br />
|}
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.


<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>


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

</blockquote>
==Epigenomic Alterations==

*Not described

==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.'')</span>
{| class="wikitable sortable"
|-
!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
|}

<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" />
*MYC/TP53 dysregulation<ref name=":5" /><ref name=":1" />

</blockquote>
==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==

* [[HAEM5:ALK-negative anaplastic large cell lymphoma]]
* [[HAEM5:ALK-positive anaplastic large cell lymphoma]]

==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 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.''</span> <span style="color:#0070C0">''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''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">) </span> <references />

'''

==Notes==
<nowiki>*</nowiki>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.
<nowiki>*</nowiki>''Citation of this Page'': “Breast implant-associated anaplastic large cell lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Breast_implant-associated_anaplastic_large_cell_lymphoma</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases B]]