Evaluation of Breast Implant–Associated Anaplastic Large Cell Lymphoma With Whole Exome and Genome Sequencing

Author:

Akkad Neha1,Kodgule Rohan2,Duncavage Eric J3ORCID,Mehta-Shah Neha4,Spencer David H5,Watkins Marcus6ORCID,Shirai Cara7,Myckatyn Terence M8

Affiliation:

1. Resident of internal medicine, Department of Medicine, Washington University School of Medicine , Saint Louis, MO , USA

2. Postdoctoral research fellow of pathology

3. Professor of pathology/immunology

4. Associate professor of medical oncology

5. Assistant professor of medical oncology

6. Research coordinator of medical oncology, Department of Medicine, Division of Hematology and Oncology, Washington University School of Medicine , Saint Louis, MO , USA

7. Instructor of pathology and immunology, Department of Pathology and Immunology, Washington University School of Medicine , Saint Louis, MO , USA

8. Professor of plastic and reconstructive surgery, Division of Plastic and Reconstruction Surgery, Washington University School of Medicine , Saint Louis, MO , USA

Abstract

Abstract Background Breast implant–associated anaplastic large cell lymphoma (BIA-ALCL) is a rare malignancy originating from the periprosthetic capsule of a textured, most often macrotextured, breast implant. Identified in women whose indications for breast implants can be either aesthetic or reconstructive, the genomic underpinnings of this disease are only beginning to be elucidated. Objectives The aim of this study was to evaluate the exomes, and in some cases the entire genome, of patients with BIA-ALCL. Specific attention was paid to copy number alterations, chromosomal translocations, and other genomic abnormalities overrepresented in patients with BIA-ALCL. Methods Whole-exome sequencing was performed on 6 patients, and whole-genome sequencing on 3 patients, with the Illumina NovaSeq 6000 sequencer. Data were analyzed with the Illumina DRAGEN Bio-IT Platform and the ChromoSeq pipeline. The Pathseq Genome Analysis Toolkit pipeline was used to detect the presence of microbial genomes in the sequenced samples. Results Two cases with STAT3 mutations and 2 cases with NRAS mutations were noted. A critically deleted 7-Mb region was identified at the 11q22.3 region of chromosome 11, and multiple nonrecurrent chromosomal rearrangements were identified by whole-genome sequencing. Recurrent gene-level rearrangements, however, were not identified. None of the samples showed evidence of potential microbial pathogens. Conclusions Although no recurrent mutations were identified, this study identified mutations in genes not previously reported with BIA-ALCL or other forms of ALCL. Furthermore, not previously reported with BIA-ALCL, 11q22.3 deletions were consistent across whole-genome sequencing cases and present in some exomes. Level of Evidence: 5

Funder

Aesthetic Surgery Education Research Foundation

Foundation for Barnes-Jewish Hospital

Publisher

Oxford University Press (OUP)

Subject

General Medicine,Surgery

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