
BackgroundTrastuzumab emtansine (T-DM1) is indicated for HER2-positive early breast cancer with residual invasive disease after neoadjuvant chemotherapy (NAC). However, the extent of benefit T-DM1 will provide over trastuzumab plus pertuzumab (HP) in patients with microscopic residual invasive disease after NAC remains unclear.MethodsData of patients with HER2-positive breast cancer who were treated with HER2-targeted therapy as NAC and completed HP or T-DM1 as adjuvant therapy from October 2018 to October 2022 were retrospectively extracted from the institutional database. Invasive disease-free survival (IDFS), overall survival (OS), and safety were analyzed.ResultsOf the 110 patients, 61 achieved pCR (55.4%), and 49 had residual invasive disease. Of the 49 patients, 29 received HP, and 20 received T-DM1 as adjuvant therapy. The proportion of ypT1aN0 was 31.0% (n = 9/29) in the HP group and 45.0% (n = 9/20) in the T-DM1 group. The 3-year IDFS and OS were 96.6% and 95.0%, and 96.6% and 100% in the HP and T-DM1 groups, respectively. The 3-year IDFS and OS of patients with ypT1aN0 were 100% in both groups. The most common adverse events of any grade in the T-DM1 group were aspartate aminotransferase increased (90%) and alanine aminotransferase increased (85%) aminotransferase and platelet count decreased (70%).ConclusionThe 3-year IDFS and OS of patients with ypT1aN0 disease who received HP or T-DM1 as adjuvant therapy were comparable.
BackgroundAkt1, a crucial component of the PI3K/Akt signaling pathway, mediates a plethora of cancer-related processes such as cell growth, proliferation, survival, apoptosis and invasion. So, the pathogenesis of various types of cancer may be attributed to single nucleotide polymorphisms (SNPs) in the AKT1 gene. Here, we aimed to investigate whether AKT1 rs1130214, rs1130233 and rs2494732 SNPs are associated with an increased risk of breast cancer (BC).Material and methodsA total of 100 women diagnosed with BC and 100 healthy controls were included. The AKT1 SNPs were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification refractory mutation system PCR (ARMS-PCR) methods. Using logistic regression analysis, the genotypic and allelic associations between AKT1 SNPs and BC development were determined under co-dominant, dominant, and recessive inheritance models. Genotype combination and haplotype analysis were also performed to assess the combined effect of the AKT1 SNPs on the risk of BC. We used RNAsnp online server to predict the effect of rs1130233 SNP on local RNA secondary structure.ResultsThe rs1130233 SNP was observed to be significantly associated with predisposition to BC under recessive inheritance model (p < 0.05). The rs1130233 T allele confers risk of developing BC (OR: 1.877; 95% CI: 1.242-2.837; p = 0.003). For rs1130214/rs2494732 and rs1130233/rs2494732, AA/TC and CC/TC combined genotypes were found to be independently associated with reduced risk of BC, respectively. We also found that individuals with the CTC haplotype have an increased risk of BC (p < 0.05).ConclusionOur results highlight that AKT1 rs1130233 SNP is significantly associated with a higher risk of BC. Furthermore, the CTC haplotype can be utilized to identify individuals with a genetic susceptibility to BC.
Circulating tumor cells (CTCs) are cancerous cells that detach from the tumor and circulate in the bloodstream, resulting in metastasis by invading and colonizing new organs. These cells, however, pose a great significance from the clinical perspective as they can be used for the detection and prognosis of cancer. Traditionally used cancer diagnosis treatments are invasive and cannot detect tumor heterogeneity. CTCs, on the other hand, can be recovered through various non-invasive techniques such as liquid biopsies. Further, they can potentially aid in accurate diagnosis and prognosis, real-time monitoring of the body's therapeutic response, and in providing personalized therapy. Hence, CTCs can conceivably help in reducing breast cancer-related mortality. Numerous techniques have been developed for the accurate detection and capture of CTCs. However, there is still much scope for improvement before CTCs can be used in clinical settings. In this review, we discuss about CTC characteristics and their role in breast cancer. The clinical significance of CTCs in breast cancer is elaborated. Further, various technologies developed and the ongoing trials for CTC detection are reviewed. Potential for improvement in currently employed methods and future research expectations are also discussed.
IntroductionMyeloid sarcoma is a high-grade hematological malignancy that rarely occurs in the breast as the tumor is generally seen in the ribs, sternum, and orbital bones. We report a case of isolated myeloid sarcoma presenting as a breast mass and reviewed the literature to raise awareness of this disease.Case presentationA 20-year-old girl presented with a painless mass located in the upper outer quadrant of the left breast. The patient underwent a bilateral breast US revealing a central retroareolar large hypoechoic solid mass about 55 × 33 mm. A core needle biopsy was performed leading to the suspicion of non-Hodgkin lymphoma. The patient was planned to start CHOP protocol till the final confirmatory pathologic results. She received 4 cycles with a partial response. A new biopsy from the breast mass and IHC revealed the diagnosis of myeloid sarcoma. Bone marrow examination was normocellular with no abnormal deposits. She received 4 cycles HD Cytarabine with a PET CT revealing a complete response. She is prepared for bone marrow transplantation.ConclusionBeing rare, breast myeloid sarcoma is often misinterpreted as NHL or lobular breast cancer. Oncologists must remain aware of this condition because it frequently co-occurs with or follows AML.
Nipple discharge is a common and problematic symptom reported by many women seeking evaluation in primary care practices, surgery clinics, and breast radiology facilities. Discharge has been cited as the second to third most commonly reported breast symptom, next to palpable lumps and tenderness.1-3 Numerous groups have discussed management strategies regarding nipple discharge, and there has been a significant evolution away from surgical intervention. For the radiologist, nipple discharge can be a dilemma for many reasons. For academic medical centers with the availability of a network of clinical breast care personnel, subspecialty trained breast radiologists, and breast surgeons, a comprehensive evaluation and management strategy is more realistic. In the community setting, managing a patient with nipple discharge can be challenging due to limited time and resources. Fortunately, the vast majority of patients presenting with nipple discharge can be appropriately triaged with a thorough history and physical exam. For those requiring imaging, mammography and ultrasound are widely available for initial work-up. Magnetic Resonance Imaging (MRI) has also become more commonplace in recent years and has become an important tool in the evaluation process of nipple discharge. Ductography, which is decreasing in popularity, may continue to play a specific role in managing nipple discharge; however, the availability of skilled practitioners may be limited. Our aim in this review is to discuss features that differentiate physiologic from pathologic nipple discharge, provide a literature summary to guide imaging recommendations, and introduce a flow chart as an overview for step-by-step management.