RESUMEN
The Mazabraud syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. The McCune-Albright syndrome is characterized by the association of dysplasia fibrous bone to one or more extra-osseous manifestations, including café-au-lait skin spots and endocrine disturbances. Here, we report on a new case of a 52-year-old man with sacroiliac polyostotic bone fibrous dysplasia associated with intramuscular myxomas of the left buttock and thigh and a café-au-lait skin spot. Biopsy analysis of one muscular lesion on the left thigh analysis revealed a spindle cell tumor with myxoid stroma with GNAS gene mutation, confirming the diagnosis of intramuscular myxoma. Given the absence of radiological sign of malignancy at the bone level and a few pains relieved by simple analgesics, no specific treatment was applied. In March 2022, after 18 months of follow-up, the magnetic resonance imaging and the PET-CT scan showed a stable disease. To our knowledge, this case is the fourth one reporting association of Mazabraud syndrome and McCune-Albright syndrome in a man. The association of intramuscular tumors and bone tumors in the same anatomical region and without any continuity, especially in lower limbs, must evoke the diagnosis of Mazabraud syndrome.
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BACKGROUND AND PURPOSE: To report the postoperative and oncological outcomes of transhiatal esophagectomy for locally advanced cancer of the gastroesophageal junction. METHODS: Medical records of 120 consecutive patients who underwent transhiatal esophagectomy for locally advanced cancer of the gastroesophageal junction with curative intent after neoadjuvant treatment between February 2006 and December 2018 at our center were reviewed. RESULTS: All patients received either chemotherapy (46.7%) or chemoradiation (53.3%). The 90-day mortality and overall morbidity rates were 0.8% and 56.7%, respectively. Respiratory complications were the most common (30.8%). Anastomotic leakage occurred in 19 patients (15.8%), who were treated by local wound care (n = 13) or surgical drainage (n = 6). Recurrent laryngeal nerve injury occurred in 12 patients (9.9%). The median length of hospital stay was 15.5 days. The rate of R0 resection was 95.8%, and the median number of nodes removed was 17.5. Over a median follow-up of 77 months, the rate of recurrence was 40.8%, and the overall survival rates at 1, 3, and 5 years were 91%, 75%, and 65%, respectively. The median survival time was not reached. In multivariate analysis, disease stage was the only independent significant prognostic factor. CONCLUSIONS: Transhiatal esophagectomy is a safe and effective procedure with good long-term oncological outcomes for locally advanced tumors after neo-adjuvant treatment. It can be recommended for all patients with cancer of the gastroesophageal junction, regardless of the Siewert classification, tumor stage, and comorbidities.
Asunto(s)
Adenocarcinoma , Neoplasias Esofágicas , Adenocarcinoma/cirugía , Neoplasias Esofágicas/cirugía , Esofagectomía/métodos , Unión Esofagogástrica/patología , Unión Esofagogástrica/cirugía , Humanos , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: Soft-tissue sarcomas (STSs) are heterogeneous and aggressive tumors, with high metastatic risk. The immunologic constant of rejection (ICR) 20-gene signature is a signature of cytotoxic immune response. We hypothesized that ICR might improve the prognostic assessment of early-stage STS. METHODS: We retrospectively applied ICR to 1455 non-metastatic STS and searched for correlations between ICR classes and clinicopathological and biological variables, including metastasis-free survival (MFS). RESULTS: Thirty-four per cent of tumors were classified as ICR1, 27% ICR2, 24% ICR3, and 15% ICR4. These classes were associated with patients' age, pathological type, and tumor depth, and an enrichment from ICR1 to ICR4 of quantitative/qualitative scores of immune response. ICR1 class was associated with a 59% increased risk of metastatic relapse when compared with ICR2-4 class. In multivariate analysis, ICR classification remained associated with MFS, as well as pathological type and Complexity Index in Sarcomas (CINSARC) classification, suggesting independent prognostic value. A prognostic clinicogenomic model, including the three variables, was built in a learning set (n=339) and validated in an independent set (n=339), showing greater prognostic precision than each variable alone or in doublet. Finally, connectivity mapping analysis identified drug classes potentially able to reverse the expression profile of poor-prognosis tumors, such as chemotherapy and targeted therapies. CONCLUSION: ICR signature is independently associated with postoperative MFS in early-stage STS, independently from other prognostic features, including CINSARC. We built a robust prognostic clinicogenomic model integrating ICR, CINSARC, and pathological type, and suggested differential vulnerability of each prognostic group to different systemic therapies.
Asunto(s)
Biomarcadores de Tumor/metabolismo , Perfilación de la Expresión Génica/métodos , Regulación Neoplásica de la Expresión Génica/genética , Sarcoma/genética , Sarcoma/inmunología , Humanos , PronósticoRESUMEN
OBJECTIVES: The role of 18F-fluorocholine positron emission tomography/computed tomography (18F-Choline PET/CT) in different clinical situations remains controversial and current practices are very heterogeneous. The aim of this study was to evaluate the "real-world" practice of 18F-Choline PET/CT in patients with prostate cancer and its potential impacts on therapeutic strategy. METHODS AND MATERIALS: This is a retrospective multicenter observational study including 265 consecutive men who underwent 18F-Choline PET/CT for prostate cancer between November 2014 and November 2015. Primary outcome was impact on therapeutic strategy. Secondary outcomes were sensitivity of the 18F-Choline PET/CT and predictive factors associated with positive scans. Statistical analyses comprised Student's t test for continuous variables or chi-squared test for qualitative variables. RESULTS: Median PSA level at the time of PET/CT was 4.19 ng/ml. The decision to perform PET/CT was made after multidisciplinary discussion in 29.8% of cases; most were prescribed by urologists (50.2% of cases). Three main indications were concerned: biochemical recurrence after local treatment (61.1%), initial staging (26.0%), or at the time of progression to castration-resistance (12.9%). Upon biochemical recurrence, 18F-Choline PET/CT allowed identification of ≥1 site(s) with a sensitivity of 80.9%. In multivariate analysis, predictive factors associated with 18F-Choline PET/CT sensitivity were serum PSA level and local treatment type in cases of biochemical recurrence, and PSA doubling time and Gleason score in case of initial staging. 18F-Choline PET/CT results allowed restaging and change in therapeutic strategy in 58.1% of all combined indications. CONCLUSIONS: Indications of 18F-Choline PET/CT were varied. The detection rate of metastatic lesions was suitable, especially when PSA rate was >1 ng/mL. In most cases, 18F-Choline PET/CT led to a change in therapeutic strategy, particularly in the setting of biochemical recurrence.