Breast implant-associated anaplastic large cell lymphoma

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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.

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
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  • 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
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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)
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  • 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
The following referenees were placed in the header. Please place them into the appropriate locations in the text.

[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
The content below was from the old template. Please incorporate above.

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 12/7/2023, https://ccga.io/index.php/HAEM5:Breast_implant-associated_anaplastic_large_cell_lymphoma.