Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort

BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies. METHODS: Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). For genotype-phenotype analysis, we grouped mutations according to their type and localization. To investigate progression of CKD we used survival analysis by Kaplan-Meier method using stage 3 CKD as the end-point. RESULTS: Median estimated glomerular filtration rate (eGFR) was lower in the LS group compared with DD2 (58.8 versus 87.4 mL/min/1.73 m(2), P < 0.01). CKD stage II-V was found in 82% of patients, of these 58% and 28% had moderate-to-severe CKD in LS and DD2, respectively. Three patients (3%), all with LS, developed stage 5 of CKD. Survival analysis showed that LS was also associated with a faster CKD progression than DD2 (P < 0.01). On multivariate analysis, eGFR was dependent only on age (b = -0.46, P < 0.001). Localization, but not type of mutations, tended to correlate with eGFR. There was also no significant association between presence of nephrocalcinosis, hypercalciuria, proteinuria and number of adverse clinical events and CKD. CONCLUSIONS: CKD is commonly found in children with OCRL mutations. CKD progression was strongly related to the underlying diagnosis but did not associate with clinical parameters, such as nephrocalcinosis or proteinuria

Breast carcinoma in elderly women : features of disease presentation, choice of local and systemic treatments compared with younger postmenopausal patients

BACKGROUND. Aging remains one of the single greatest risk factors for the development of new breast carcinoma. The aim of the study was to evaluate the relation between biologic features at first diagnosis of breast carcinoma and treatment choice for postmenopausal women : 50 years to optimize treatment in the elderly. METHODS. The sample included 2999 consecutive postmenopausal patients referred for surgery at the European Institute of Oncology (Milan, Italy) from April 1997 to February 2002. The patients were grouped according to age: young postmenopausal (YPM; 50-64 years, n = 2052), older postmenopausal (OPM; 65-74, n 801), and elderly postmenopausal (EPM; greater than or equal to75, n = 146). RESULTS. EPM patients referred to surgery had larger tumors compared with YPM patients (pT4: 6.7% vs. 2.4%) as well as greater lymph node involvement (lymph node positive: 62.5% vs. 51.3%). EPM patients showed a higher degree of estrogen and progesterone receptor expression (P&lt;0.01), less peritumoral vascular invasion (P&lt;0.01), and less HER-2/neu expression (P&lt;0.01) than YPM patients. Comorbidities were more often recorded for elderly patients (72% EPM vs. 45% YPM; P&lt;0.001), did not influence surgical choices, and were similar across groups (breast conservation: 73.9%, 76.9%, and 72.9%, respectively). No systemic therapy (either chemotherapy or endocrine therapy) was recommended for 19.1% of the EPM compared with 5.4% and 4.7% of the two other groups. CONCLUSIONS. in spite of larger tumor size at presentation, older patients had tumors with more favorable biologic characteristics, when compared with younger postmenopausal patients. Reluctance to prescribe systemic treatments was due to the complexity of evaluation for these patients. Taking into account the data from the current study and given the climate of uncertainty regarding optimal treatment, the authors decided to individualize care on the basis of biologic characteristics, comorbidity, social support, functional status, and patient preferences. Trials of tailored adjuvant therapy should be a health care priority

Breast phyllodes tumor : A review of literature and a single center retrospective series analysis

PURPOSE: Complete surgical resection is the standard treatment for localized breast phyllodes tumors. Post-surgical treatments are still a matter of debate. We carried out an overview of the literature to investigate the clinical outcome of patients with phyllodes tumor. A retrospective analysis of mono-institutional series has been included as well. METHODS: We reviewed all the retrospective series reported from 1951 until April 2012. We analyzed cases treated at our institution from 1999 to 2010. RESULTS: Eighty-three articles (5530 patients; 1956 malignant tumors) were reviewed. Local recurrences were independent of histology. Distant recurrences were more frequent in the malignant tumors (22%). A total of 172 phyllodes tumors were included in the retrospective analysis. DISCUSSION: Prognosis of phyllodes tumors is excellent. There are no convincing data to recommend any adjuvant treatment after surgery. Molecular characterization may well provide new clues to permit identification of active treatments for the rare poor prognosis cases

Fine- needle aspiration of parotid masses

Background. There is controversy concerning the utility of fine-needle aspiration in diagnosing parotid masses. Even studies on large series of patients have compared aspiration findings with the histology in much fewer cases. Methods. Preoperative fine-needle aspiration findings were compared with the histopathologic diagnoses from surgically resected specimens in 246 patients presenting with and treated for parotid mass from 1980-1990. Results. Of 173 benign tumors, 159 (91.9%) were diagnosed correctly and 110 of 144 (> 60%) were typed. Of 36 malignant tumors, malignancy was recognized in 22 cases (61.1%). There were nine false-negatives, and in five cases, the specimen was unsatisfactory. The four cases of metastatic disease were correctly typed. Only two of seven lymphomas (28.6%) were identified. The cytologic and histologic diagnoses were concordant in all cases of nonneoplastic disease. Overall accuracy was 87%. Conclusions. Fine-needle aspiration speeds up the diagnostic process and, with close cooperation between clinician and pathologist, the technique is a valuable adjunct to preoperative assessment in patients with parotid masses

Risk of preneoplastic and neoplastic events in operated oral leukoplakias

We retrospectively analysed 167 consecutive patients with oral leukoplakias operated on by CO2 laser resection in the Day Hospital of the Istituto Nazionale Tumori in Milan from January 1981 to December 1988, with post-operative histological examination negative for cancer. Within 5 years there were 69 patients with at least one unfavourable event. First unfavourable events were: 31 local relapses, 27 new leukoplakias, 5 oral carcinomas and 6 other neoplasms elsewhere. To identify possible prognostic factors we recorded age, sex and history of previous oral leukoplakias or head and neck cancers; also number, site, size and type of lesion; as well as tobacco and alcohol consumption and oral hygiene. The Cox regression model was employed to compare disease-free survival between different patient groups, both by univariate and multivariate analysis. From this analysis it emerges that age of operated patients and size of resected lesion are significantly predictive for development of relapses, new leukoplakias and carcinomas