Introduction: Homozygous mutations in the HFE gene are among the causes of iron overload worldwide. Several reports suggest an increased risk of breast cancer (BC) in these patients, although there are controversial evidences on this subject. There is some discussion on the tolerance to some BC adjuvant therapies in these patients regarding aspects like the potential cardiotoxicities. Information on adjuvant hormone therapy in this setting is very limited. Case report: A 65-year- -old woman was treated with segmental resection in the left breast and selective biopsy of the sentinel node in April 2019. Pathology showed an infiltrating ductal carcinoma of 1.2 cm, grade 1, with two negative sentinel nodes. Estrogen receptor was 100%, progesterone receptor was 20%, Her2/neu was 1+, and Ki-67 was 15%. A previous diagnosis of hemochromatosis was done in October 2018 with a high transferrin saturation and a genetic analysis disclosing a homozygous C282Y mutation in the HFE gene. Regular phlebotomies every 3 months were scheduled for the treatment of the iron overload. Several points were considered for the selection of the adjuvant hormone therapy. Articular damage is a common complication of hemochromatosis. In fact, a hip prosthesis was implanted in 2018 for our patient with severe coxarthrosis. There was some risk of further articular impairment with aromatase inhibitors (AI). Furthermore, AI may have an androgenic effect, with some effect on the red cell mass. On the contrary, tamoxifen may increase the risk of porphyria crises in patients with hemochromatosis. We selected letrozole as adjuvant therapy, with good articular tolerance and fair hematological control after nearly 3 years of follow-up. Conclusion: Although homozygous HFE mutations may increase the risk of some adverse events related to BC adjuvant hormone therapy, the tolerance to letrozole in our patients has been very good, without raising further concerns.
Introduction: Plasmacytomas are uncommon malignant lesions in the breast. Further knowledge is needed about the presentation, diagnosis, and therapy of this disease. Case report: A 78-year-old woman had a previous diagnosis of sacral bone plasmacytoma in March 2005 that was treated with radiotherapy. A new lesion involved in the cervical spine in 2008 was also irradiated. A mammogram and ultrasound found two well-defined nodules in January 2012 in the upper outer quadrant of the right breast, with a total diameter of 38 mm. Biopsy showed a proliferation of cells with Ki-67 staining in more than 90% and positivity for CD38, CD138, CD45, and CD79A, an exclusive expression of lambda light chains. The pathological diagnosis was anaplastic plasmacytoma. She received radiotherapy with remission of the breast lesions. After further appearance of bone lesions, she started chemotherapy with bortezomib, melphalan, and prednisone in January 2016. A PET study in July 2016 showed, among other findings, the presence of a 4-cm lesion in the upper-outer quadrant of the left breast (SUVmax: 3.9). Biopsy gave a diagnosis of plasmacytoma, with cells staining strongly positive for CD138, MUN1, and CD38, with the expression of lambda light chain. Chemotherapy was changed to lenalidomide plus dexamethasone. A further PET in January 2017 displayed, among other findings, the persistence of the lesion in the left breast (SUVmax: 5.4) with two new lesions in the right breast (SUVmax: 5.3 and 13). There was also a sacral progression, and chemotherapy was changed to pomalidomide, dexamethasone plus cyclophosphamide. The evolution of the patient was unfavorable, and she died in June 2017. Criteria for multiple myeloma were not present along the course of the disease. Conclusion: Evolution to bilateral involvement, relapse in the same breast, and refractoriness to chemotherapy are remarkable aspects of this case report and give further information about this presentation of the disease.
Background:Currently, we have numerous therapeutic options for relapses of multiple myeloma (MM). However, different studies shown an attrition rate of between 21-57% at each line of therapy (LOT), highlighting the use of the most optimal treatment early rather than reserving them for later. Considering that the median age of MM diagnosis is 70 years, we could assume that some MM patients will die due to causes unrelated to MM.
Between 47-72% of patients diagnosed with multiple myeloma (MM) would be excluded from participating in clinical trials due to restrictive selection criteria. This is of particular interest in phase 3 trials, in which some clinical trials are focused on authorization approvals and other to serve as a mirror for real world clinical setting. Since 2017, the ASCO-Friends of Cancer Research published recommendations to modernize the inclusion criteria and favor the inclusion of patients in clinical trials.
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