Mutations or deletions involving ZFHX1B (previously SIP1) have recently been found to cause one form of syndromic Hirschsprung disease (HSCR), associated with microcephaly, mental retardation, and distinctive facial features. Patients with the characteristic facial phenotype and severe mental retardation, but without HSCR, have now also been shown to have mutations in this gene. Mutations of ZFHX1B are frequently associated with other congenital anomalies, including congenital heart disease, hypospadias, renal tract anomalies, and agenesis of the corpus callosum (ACC). We present the clinical data and mutation analysis results from a series of 23 patients with this clinical syndrome, of whom 21 have proven ZFHX1B mutations or deletions (15 previously unpublished). Two patients with the typical features (one with and one without HSCR) did not have detectable abnormalities of ZFHX1B. We emphasize that this syndrome can be recognized by the facial phenotype in the absence of either HSCR or other congenital anomalies, and needs to be considered in the differential diagnosis of dysmorphism with severe mental retardation +/− epilepsy. © 2003 Wiley‐Liss, Inc.
BACKGROUND:Cytology and core‐needle biopsies are not always sufficient to exclude malignancy in benign breast lesions (BBL) that are at risk of developing cancer, and open biopsy often is mandatory. In screening programs, open biopsies performed for lesions that are at risk of developing malignancy are considered benign. The authors of this report evaluated the impact of the screen‐detected BBL at risk of developing cancer that were counted in the quota of benign breast open biopsies in the Breast Cancer Screening Program of Verona.METHODS:Benign open biopsies were subdivided into 4 groups according to their risk of developing cancer: Histo1, normal histology; Histo2, ‘pure’ BBL (fibroadenoma, fibrocystic disease, mastitis, adenosis); Histo3, BBL with a low risk of developing cancer (radial scar, papilloma, papillomatosis, phyllodes tumor, mucocele‐like lesion); and Histo4, BBL with a high risk of developing cancer (atypical columnar cell hyperplasia, atypical ductal hyperplasia, atypical lobular hyperplasia).RESULTS:Of 510 open biopsies, 83 biopsies were benign, and the ratio of benign to malignant biopsies was 1:5. Histo1 was observed in 4.8% of all benign open biopsies, Histo2 was observed in 37.4%, Histo3 was observed in 31.3%, and Histo4 was observed 26.5%.CONCLUSIONS:BBL at risk of developing cancer may be numerous in screening programs. It is inappropriate to include BBL at risk of developing cancer in the overall benign open biopsy rate. The authors propose separating pure BBL from lesions at higher risk of developing cancer. To date, there is no evidence to support the premise that detecting high‐risk proliferative lesions leads to benefits in terms of reduced mortality; however, these lesions need to be counted separately for future evaluations. Cancer 2009. © 2008 American Cancer Society.
In mammography screening, the majority of abnormalities are the result of nonmalignant proliferative breast lesions.1,2 Preoperative diagnostic procedures are adopted in the investigation of suspicious or equivocal screen-detected breast lesions to avoid unnecessary open biopsy. The high-quality performance of a nonoperative procedure provides the best benign-to-malignant ratio in open biopsy. The quality assurance system is an integrated part of breast screening programs 3 and is necessary to evaluate screening performance.Fine-needle aspiration cytology (FNAC) has been used extensively over the years in the diagnosis of breast lesions. However, despite the many benefits (eg, fast turnaround time, patient compliance, and its reputation as a simple and cost-effective method), it has been increasingly criticized of having a high inadequate rate (IR) and suboptimal accuracy. [4][5][6] The preoperative confirmation of breast cancer by FNAC has gradually been reduced in many screening programs in which the results were not satisfactory and replaced by microhistology, consisting of ultrasound-guided core needle biopsy (USCNB) or stereotactic core needle biopsy (SCNB). 4,[7][8][9] The IR for FNAC is inversely proportional to the operator's level of experience and the presence of specialized cytologists.10-13 Radiologic imaging 5,6 and the type of guidance system used are additional factors that could affect the performance of FNAC.5 Diagnostic accuracy can be achieved through a multidisciplinary consultation, combining FNAC results with clinical and radiologic data (the triple test).14 The diagnostic value of FNAC improves with the immediate onsite evaluation of specimens. 10,15 Immediate cytologic diagnosis in real time is cost-effective and allows those patients with benign diseases to be given immediate reassurance whereas the management of patients with malignant or suspicious lesions can be quickly planned. 16,17 The current study describes the quality performance results of FNAC over a 5-year period of activity at the Breast Cancer Screening Program in Verona (BCSPV ), in which the integrated radiopathologic, real-time assessment of suspicious lesions and immediate cytologic reports are performed. The objective of the current study was to highlight FNAC accuracy when it is part of an integrated radiopathologic service in which the cytologic sample results are immediately matched with clinical and imaging findings.
Dirofilariasis is a zoonotic infection, which is occasionally seen in humans and rarely found as a subcutaneous orbital swelling. The authors report a case of a 62-year-old woman presented with a 3-month history of a right periorbital subcutaneous nodule. Treatment with antibiotics and corticosteroids was not satisfactory. Magnetic resonance imaging analysis showed a nodule with a central colliquative area. The lesion displaced the eyeball superiorly but did not affect the intraorbital muscles. The patient was subjected to excisional biopsy and the nodule measured 15 mm. Histological findings showed microabscess reaction with heterogeneous lymphoid infiltration. Additional consecutive sections finally showed Dirofilaria repens, curled up in spirals with external cuticular ridges in an environment characterized by epithelioid cells. The lesion did not recur for 5 months. Periorbital swelling can be rarely caused by Dirofilaria repens; therefore, this diagnosis should be considered in all cases of subcutaneous inflammatory or tumor-like lesion of unknown etiology.
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