Breast density in NF1 women: a retrospective study.

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by neurofibromin haploinsufficiency due to pathogenic variants in the NF1 gene. Tumor predisposition has long been associated with NF1, and an increased breast cancer (BC) incidence and reduced survival have been reported in recent years for women with NF1. As breast density is another known independent risk factor for BC, this study aims to evaluate the variability of breast density in patients with NF1 compared to the general population. Mammograms from 98 NF1 women affected by NF1, and enrolled onto our monocentric BC screening program, were compared with those from 300 healthy subjects to verify differences in breast density. Mammograms were independently reviewed and scored by a radiologist and using a Computer-Aided Detection (CAD) software. The comparison of breast density between NF1 patients and controls was performed through Chi-squared test and with multivariable ordinal logistic models adjusted for age, body mass index (BMI), number of pregnancies, and menopausal status.breast density was influenced by BMI and menopausal status in both NF1 patients and healthy subjects. No difference in breast density was observed between NF1 patients and the healthy female population, even after considering the potential confounding factors.Although NF1 and a highly fibroglandular breast are known risk factors of BC, in this study, NF1 patients were shown to have comparable breast density to healthy subjects. The presence of pathogenic variants in the NF1 gene does not influence the breast density value.

[Non-palpable lesions of the breast. Preoperative location techniques with vegetable charcoal]. / Lesioni non palpabili della mammella. Tecnica di localizzazione preoperatoria con carbone vegetale.

PURPOSE: Mammography and US increase the rate of early breast cancer diagnoses. The difficult intraoperative location of nonpalpable lesions has led to the development of various techniques suitable to this purpose. We investigated the effectiveness of free-hand vegetable charcoal lesion marking during both mammography and US and compared this technique with other more commonly used methods. MATERIAL AND METHODS: Our series consisted of 485 consecutive charcoal markings of nonpalpable breast lesions submitted to histologic examination. Marking was carried out free-hand under mammographic guidance in 392 cases and under US guidance in 93 cases. The technique, presented in the paper with schematic drawings, was successful because the surgeon correctly identified the charcoal tracing in all 485 cases. There were no complications, neither during charcoal introduction nor during surgery. RESULTS: The comparison with other marking techniques showed the following advantages of our method: 1) it is rapid and easy to perform; 2) patient discomfort is minimal and no local anesthesia is needed; 3) it is accurate and there are no risks of charcoal displacement or spread; 4) the tracing charcoal is easy to find; 5) the most appropriate surgical route can be followed, with consequently better cosmetic results in the patients not undergoing quadrantectomy; 6) surgery can be performed on an outpatient basis under local anesthesia; 7) a minimal amount of glandular tissue is removed; 8) there are absolutely no side-effects; 9) cost is low; 10) surgery can be planned over time; 11) there is no risk of cutting the wire with an electrotome; 12) no particular equipment or instruments are needed; 13) there are no problems in very superficial lesions. CONCLUSIONS: To conclude, on account of our results and of so many advantages, we believe that free-hand vegetable charcoal marking during mammography and US is now the best possible solution to the problem of surgical identification of nonpalpable breast lesions.

[Non-palpable lesions of the breast. Retrospective analysis of mammographic and ultrasonographic indications for surgery]. / Lesioni non palpabili della mammella. Analisi retrospettiva delle indicazioni mammografiche ed ecografiche all'intervento chirurgico.

INTRODUCTION: The differential diagnosis of malignancy in small foci of microcalcifications or in extremely small nodes can be difficult. We carried out a retrospective analysis of integrated mammographic and US results, correlated with histologic data, to assess the limitations of each method and to optimize and benign/malignant ratio. MATERIALS AND METHODS: Our series consisted of 485 nonpalpable breast lesions submitted to histologic examination after vegetable charcoal marking. We gave each lesion an 0-5 score according to the degree of diagnostic doubt/suspicion after mammography and US, which results were correlated with histologic data to assess the carcinoma frequency in the various groups identified. RESULTS: The analysis of mammographic and US images showed that the most frequent mammographic alteration in the lesions submitted to biopsy was an isolated cluster of microcalcifications (40.99%): of these, 36.86% were neoplastic. The nodules submitted to biopsy, which were 29.81% of the total, showed a cancer rate (36.80%) very similar to that of the microcalcifications. The carcinoma rate rose to 37.93% when the microcalcifications were associated with nodes. The highest carcinoma rates, i.e., 52.94% and 66.66%, respectively, were found in parenchymal distortions, either isolated or associated with microcalcifications, which however were only 7.03% and 3.10%, respectively, of the total number of cases. DISCUSSION AND CONCLUSIONS: Our study showed that: 1) a highly suspicious US result must be seriously considered when a negative mammography has poor intrinsic contrast; 2) a highly suspicious US image with a little suspicious good contrast mammography requires further confirmation before surgery is planned; 3) when the mammographic finding is mid-to-highly suspicious, further investigations are needed even if US is negative. To conclude, even though the histologic examination of nonpalpable breast lesions involves performing a biopsy, we believe this is acceptable when performed on an outpatient basis, under local anesthesia and removing a limited amount of tissue only. The benign/malignant ratio ranges 2 to 1.5: if it is further reduced (below 1.5), there will be the risk of missing some early neoplastic lesions.

Two-year clinical follow-up of children and adolescents after percutaneous transluminal angioplasty for renovascular hypertension.

RATIONALE AND OBJECTIVES: Two percent of children have hypertension. For those younger than 10 years of age, there is a high probability that hypertension is secondary. The purpose of this study was to evaluate the merits of percutaneous transluminal angioplasty (PTA) in the treatment of childhood renovascular hypertension (RVH) in light of the results previously obtained by the authors and to evaluate their stability at 2-year follow-up. METHODS: The positive response of peripheral renin plasma levels to a single dose of captopril was used as a criterion for selecting 36 patients between 4 and 15 years of age with renovascular hypertension. All underwent angiography; in most patients, PTA was performed in the same session. A 2-year follow-up study was conducted. RESULTS: In the 36 patients considered for RVH screening, PTA was successful in 34 of 36 patients (94%). Four of these patients had neurofibromatosis. The high success rate was confirmed in the 2-year follow-up study: 34 patients continue to be normotensive. CONCLUSIONS: Percutaneous transluminal angioplasty treatment of pediatric patients with hypertension has proved to be an effective and valuable method when the cause of renal artery stenosis is fibromuscular dysplasia, and the long-term results were sufficient to suggest the use of this technique in patients with neurofibromatosis as well.