Background: Studies suggest that surgical breast augmentation with implants is a risk factor for breast desmoid tumors. The statistical strength of this correlation is unknown, as evidence is limited to anecdotal reports. Methods:Patients with breast desmoid tumors and a history of breast implants seen at a single center between 2000 and 2021 were identified via radiology, breast, and sarcoma databases. The standardized incidence ratio (SIR) was calculated to assess the correlation between breast desmoid tumors and breast implants. The cases were pooled with published cases for analyses. Progression-free survival curves and hazard ratios were estimated using the Kaplan-Meier method and Cox proportional-hazards modeling.Results: Fourteen patients from one institution and 66 cases in the literature were identified. All patients were female, and the mean age was 38 years old (range 20-66). 63 patients (82%) underwent resection, 9 (12%) received chemotherapy, 3 (4%) received sorafenib, 11 (14%) received hormonal therapy, and 3 (4%) underwent active surveillance. After resection, the 2-year recurrence-free survival rate was 77% (95% CI 65%-89%). The recurrence risk was lower for resection with no residual tumor (R0) compared to microscopic (R1) or macroscopic (R2) residual tumor (HR: 0.15; 95% CI 0.02-0.8; p < 0.05). The SIR was 482 (95% CI 259-775) to 823 (95% CI 442-1322), suggesting a 482-823 times higher risk of developing a breast desmoid tumor after breast augmentation than the general population. Conclusion:We present a nonrandom association between breast implants and desmoid tumors. Whether the tumors arise from the surgical trauma or the implant's biomaterial is unknown. When surgery is indicated, negative margins reduce the risk of recurrence.
An 18-year-old man presented with a pathological fracture of the right proximal femur. Desmoplastic fibroma was diagnosed through histological studies. Surgical management involved extended intralesional curettage and fracture stabilization by open reduction with intramedullary nailing, using a short Gamma nail. At 42-month follow-up, the patient presented no limitations or recurrence. Internal fixation after prior intralesional curettage is a valid treatment strategy for pathological fractures in young patients. A short nail was chosen to prevent direct tumor cell seeding throughout the femur and future recurrence. Fracture consolidation was achieved because of the healing potential of a young patient.
Despite an initial response, most metastatic gastrointestinal stromal tumor (GIST) patients will ultimately be refractory to all current therapies, including imatinib, sunitinib, and regorafenib. Ripretinib at 150 mg daily was recently approved as an additional line of treatment. Few options remain after ripretinib.Here we report two cases with responses to dose escalation of ripretinib after progressing on the standard dose. Case 1: A 25-year-old man was diagnosed with a kit exon 9 mutated small intestine GIST after presenting with abdominal pain. The tumor was resected, but a year later, he developed metastases to the liver and pelvis. Over the course of three years, he received multiple lines of therapies as his disease progressed, including imatinib, sunitinib, and regorafenib. He was then placed on ripretinib 150 mg daily.However, he had disease progression after two months. Ripretinib was increased to 150 mg twice a day, which he tolerated well. After three months, he had regression of his disease. Case 2: A 54-year-old male was diagnosed with an unresectable kit exon 11 mutated gastric GISTs after presenting with abdominal pain.Imatinib led to an 80% regression, allowing surgical excision. A year later, his disease recurred. Over the course of 5 years, due to multiple recurrences, he received two additional surgeries, with imatinib, sunitinib, regorafenib, and avapritinib on either the adjuvant or neoadjuvant setting. Ultimately, he developed a metastatic GIST to the left suprarenal region, retroperitoneum, and epigastric region. He was then started on ripretinib 150 mg daily, experiencing progression of his disease in three months. Ripretinib was escalated to 150 mg twice a day, which he tolerated well, and after three months, he had a regression. Dose escalation of ripretinib leads to response in patients that progressed after the standard dose, and it is well-tolerated, being a promising new treatment option in advanced GIST.
Bone tumors are a diverse group of lesions that have a broad spectrum of biological behavior. They range from reactive conditions to benign and malignant neoplasms, and their accurate distinction from one another requires careful correlation with their clinical and imaging findings. Clues to the correct diagnosis can be derived from the patient's age, symptoms, and location of the tumor both within the skeleton and the individual bone. Tumor size, radiodensity, margination, cortical integrity, periosteal reaction, and extension into the soft tissues are useful imaging characteristics in determining phenotype and estimating biological potential. In combination, these attributes help build a differential diagnosis that should form the framework for the interpretation of the pathological findings. There are many diagnostic pitfalls, as common bone tumors may have uncommon clinical presentations, and conversely, rare bone tumors may masquerade as garden variety neoplasms. The most important task of the pathologist is to distinguish whether a tumor is reactive or neoplastic, and if neoplastic, benign or malignant—this interpretation can be extremely challenging. In this review, a select group of diagnostically challenging differential diagnoses is explored to provide a guide in generating the correct diagnosis.
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