RESUMEN
INTRODUCTION AND IMPORTANCE: BIA-ALCL is a non-Hodgkin lymphoma occurring primarily in women with textured breast implants, typically presenting as late seroma. Diagnosis involves ultrasound-guided fine-needle aspiration or core needle biopsy, followed by cytologic and immunohistochemical evaluation. Positive results show CD30 cell expression and lack ALK expression. Treatment includes removing breast implants and the periprosthetic capsule. If the lymphoma has spread, en bloc capsulectomy, immunotherapy, and chemotherapy are required. Reconstruction can be done with smooth implants or autologous tissue. PRESENTATION OF CASE: We present here the case of a woman with a 12-year history of microtextured breast implants, without any cancer family background, who presented with peri-implant effusion in the left breast, which tested positive for BIA-ALCL at stage IA. The patient underwent breast implant removal with total capsulectomy and posterior successful autologous tissue reconstruction, demonstrating that outcomes can be satisfactory when properly treated. CLINICAL DISCUSSION: Paying attention to signs in women with breast implants, beyond imaging tests, can aid in the early diagnosis of BIA-ALCL and ensure a not aggressive treatment. This approach allows the reconstruction with autologous tissue without the need of further implants. CONCLUSION: BIA-ALCL is a rare disease, further studies about this lymphoma can help with early diagnosis and potential prevention.
RESUMEN
Cancer is one of the leading causes of mortality worldwide. Breast cancer is the most frequent cancer in women, and in recent years it has become a serious public health problem in Colombia. The development of large-scale omic techniques allows simultaneous analysis of all active genes in tumor cells versus normal cells, providing new ways to discover the drivers of malignant transformations. Whole exome sequencing (WES) was obtained to provide a deep view of the mutational genomic profile in a set of cancer samples from Southwest Colombian women. WES was performed on 52 tumor samples from patients diagnosed with invasive breast cancer, which in most cases (33/52) were ductal luminal breast carcinomas (IDC-LM-BRCA). Global variant call was calculated, and six different algorithms were applied to filter out false positives and identify pathogenic variants. To compare and expand the somatic tumor variants found in the Colombian cohort, exome mutations and genome-wide expression alterations were detected in a larger set of tumor samples of the same breast cancer subtype from TCGA (that included DNA-seq and RNA-seq data). Genes with significant changes in both the mutational and expression profiles were identified, providing a set of genes and mutations associated with the etiology of ductal luminal breast cancer. This set included 19 single mutations identified as tumor driver mutations in 17 genes. Some of the genes (ATM, ERBB3, ESR1, TP53) are well-known cancer genes, while others (CBLB, PRPF8) presented driver mutations that had not been reported before. In the case of the CBLB gene, several mutations were identified in TCGA IDC-LM-BRCA samples associated with overexpression of this gene and repression of tumor suppressive activity of TGF-ß pathway.