Adults with tuberous sclerosis complex: A distinct patient population.

OBJECTIVES: There are few data on adults living with tuberous sclerosis complex (TSC), with most studies focusing on pediatric populations. The objective of our study was to examine a large national cohort of adults with TSC, and to describe the clinical characteristics of these adults and the nature of the multidisciplinary care that they receive. METHODS: Six Canadian medical centers collaborated in this study. Data were collected using a standardized form, and descriptive statistics were used for the analyses. RESULTS: Our study included 181 adults with definite TSC (mean age = 33.6 years [SD = 13.7]). More than 40% (n = 75) had family members affected by TSC. Forty-six percent (n = 83) of individuals had intellectual disability. Nearly 30% (n = 52) of individuals reported living alone or with a partner/spouse. Seventy-six percent (n = 138) of people had epilepsy, 43% (n = 59) of whom had drug-resistant epilepsy, and 21% (n = 29) had undergone epilepsy surgery. Neuropsychiatric disease (n = 128) and renal angiomyolipomas (n = 130) were both present in approximately 70% of people. Renal imaging was performed in 75.7% (n = 137) of participants within the past 3 years. Renal and pulmonary function tests, as well as electrocardiograms, were recently performed in a minority of individuals. SIGNIFICANCE: Our cohort of adults with TSC showed that an important proportion have a milder phenotype, and are more frequently familial, as compared to children with TSC (and differing from prior reports in adult cohorts). Drug-resistant epilepsy, neuropsychiatric comorbidities, and renal angiomyolipoma are challenging factors in adults with TSC. Our participating medical centers generally followed recommended screening strategies, but there remain important gaps in care. Multidisciplinary and structured TSC care centers offering service to adults may help to improve the health of this important patient population.

Uterine angiomyolipoma: a clinical analysis of 8 cases and literature review.

PURPOSE: Uterine angiomyolipoma (AML) is a rare condition involving benign tumors composed of varying proportions of blood vessels, fat, and epithelioid or spindled smooth muscle cells. We analyzed the clinicopathological features, diagnosis and treatment methods, and prognosis of uterine AML. METHODS: We retrospectively analyzed the clinical-pathological data of eight patients with pathologically diagnosed uterine AML at a single center from January 2008 to July 2020. RESULTS: The mean age of the patients was 50 years (range, 41-62). One patient was asymptomatic; the main clinical manifestations of the others included vaginal bleeding (3), menorrhagia (2), abdominal pain (1), and dysmenorrhea with adenomyosis (1). In one case, fat components observed via abdominal computed tomography led to a diagnosis of uterine leiomyolipoma; the rest were diagnosed as uterine leiomyoma (4), uterine fibroid degeneration (2), and pelvic mass (1). The lesions were in the body of the uterus (6), the fundus of the uterus (1), and the broad ligament (1). Seven patients had a focal soft tumor texture, and one had a tough texture; the lesions were yellow (3), yellow-white (3), and pinkish white (2). Surgeries included transabdominal myomectomy (2), transabdominal hysterectomy (2), transabdominal hysterectomy/bilateral salpingo-oophorectomy (2), and laparoscopic total hysterectomy/bilateral salpingectomy (2). The median follow-up time was 72 months. No relapses were reported. CONCLUSION: Uterine AML has a low incidence rate and is most likely to occur in perimenopausal women. The clinical manifestations are similar to those of uterine leiomyomas, but AML should be suspected if the internal echo of the uterine tumor is uneven and contains adipose tissue.

Renal epithelioid angiomyolipoma: Incidence in a Japanese cohort and diagnostic utility of diffusion-weighted magnetic resonance imaging.

OBJECTIVES: To show the epidemiological characteristics of epithelioid angiomyolipoma in a Japanese population, and to establish the preoperative diagnosis method of epithelioid angiomyolipoma. METHODS: Among the 855 tumors of patients who underwent partial/radical nephrectomy or renal biopsy for presumed renal cell carcinoma between 2007 and 2018, 39 renal tumors were diagnosed as nonclassical angiomyolipoma, including epithelioid angiomyolipoma and fat-poor angiomyolipoma. We retrospectively evaluated the incidence of epithelioid angiomyolipoma. Furthermore, we analyzed computed tomography and magnetic resonance imaging results, including diffusion-weighted magnetic resonance imaging findings of epithelioid angiomyolipoma and fat-poor angiomyolipoma. RESULTS: The incidence of epithelioid angiomyolipoma (n = 7) was 17.9% of surgically resected non-classical angiomyolipoma. The radiological appearance of epithelioid angiomyolipoma was hyperattenuating on unenhanced computed tomography images with iso or low intensity on T2-weighted magnetic resonance imaging. The mean apparent diffusion coefficient value of the solid component in epithelioid angiomyolipoma was significantly lower than that in fat-poor angiomyolipoma (median 0.79 × 10-3 vs 1.07 × 10-3 mm2 /s, P = 0.0019). CONCLUSIONS: The proportion of epithelioid angiomyolipoma in our Japanese cohort was equivalent to that of the reported series in the USA. The apparent diffusion coefficient value is potentially useful to differentiate between epithelioid angiomyolipoma and fat-poor angiomyolipoma. Further research is required to establish the imaging diagnostic criteria for epithelioid angiomyolipoma.

[Small renal masses. Analysis of 152 cases]. / Masas renales pequeñas: predictores de malignidad en una serie de 10 años.

BACKGROUND: Small renal masses (SRM) are defined as complex organ-confined solid or cystic lesions < 4 cm. Up to 20% of these can be benign. A conservative management with active surveillance can be done in some patients. However, it is difficult to identify patients with a higher risk of malignancy. AIM: To characterize the clinical, radiological and histopathological aspects of patients with SRM, analyzing predictive factors for tumor aggressiveness. MATERIAL AND METHODS: Retrospective analysis of a cohort of patients undergoing partial or total nephrectomy for renal tumors between 2006 and 2016. All tumors of 4 cm or less were included. Four histological groups were defined: benign, favorable, intermediate and unfavorable. Two categories of risk were also defined: low and high. Preoperative clinical and radiological variables of these patients were analyzed. RESULTS: Data of 152 patients were analyzed. Six percent had a benign histology, and the majority was of intermediate risk (74%). According to histological type, clear cell carcinoma was the most common type (74%). Three percent were benign angiomyolipomas. No malignancy predictive variable was identified. CONCLUSIONS: In these patients, the percentage of benign SRM was low. No variable that could predict the presence of a benign or malignant lesion in the definitive biopsy was identified.

Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study.

BACKGROUND: Renal pathology in tuberous sclerosis complex (TSC) is characterized by the growth of angiomyolipoma and renal cysts, and in rare cases renal cell carcinoma. Other consequences of renal involvement in TSC, including hypertension, proteinuria, and hyperfiltration, are not well studied. We aimed to analyze the early manifestations of the renal TSC phenotype in a young TSC cohort and to explore common, modifiable risk factors. METHODS: In this retrospective cohort study, TSC patients attending the TSC clinics of two tertiary hospitals were included. Data on demographics, history, genotype, kidney function, hematuria, proteinuria, blood pressure, and renal imaging were collected. RESULTS: Eighty patients were included, with a median age of 0.8 years (0.0-63.0) at first presentation, and a median follow-up time of 10.2 (0.4-41.0) years. Mutation analysis was available in 64 patients (80%). Renal lesions (cysts or angiomyolipoma) were observed in 55/73 (75%). Thirty-two percent (19/60) were hypertensive, 8/51 (16%) had proteinuria, and 18/71 (25%) had hyperfiltration (median eGFR 154 ml/min/m2). Six (7.5%) patients had developed end stage renal disease at the last follow-up. No association was found between hyperfiltration, hypertension, or proteinuria and CKD ≥ 3. Cox regression showed a significant positive association between the presence of a renal intervention and CKD ≥ 3 (Hazard-Ratio 3.91, P < 0.05). CONCLUSIONS: Besides renal cysts and angiomyolipoma, the modifiable progression factors hypertension, proteinuria, and hyperfiltration occur frequently and early in TSC patients. This represents a preventive treatment target.

Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study.

BACKGROUND: Renal angiomyolipomas (AMLs) are a major clinical feature in patients with tuberous sclerosis complex (TSC). Spontaneous bleeding can be life threatening, and appropriate information and proper surveillance and management are important to limit morbidity and mortality. Because TSC is a rare disease, patients are at risk of suboptimal medical management. Our aim was to investigate patients' and parents' knowledge about renal angiomyolipomas (AMLs) in Tuberous Sclerosis Complex (TSC) and to identify current routines for renal follow-up. METHODS: A questionnaire survey was initiated by the French Reference Centre on TSC. It was distributed in France through university hospitals and the patients' association (2009-2011), and to patients registered by the Norwegian National Centre for Rare Epilepsy-Related Disorders (2013-2014). Contingency tables with Chi-Square test for independence (with Yates Continuity Correction) and Pearson-Chi-Square value were used for correlation statistics. RESULTS: We included 357 patients (France, n=257; Norway n=100). Most participants knew that TSC is associated with AMLs. However, 42 % did not know about the risk of AMLrelated bleeding, and 37 % had been informed about the risk of bleeding only after the age of 15 years. Furthermore, 14 % did not know whether they themselves or their child had AMLs. Patients had less knowledge than parents. Medical consultations and patient associations were the main sources of information. Among 30 % of patients, renal imaging was not received at all, or not conducted every 1-3 years, as recommended by current guidelines. Regular imaging was more frequent in patients with AMLs < 15 years, than in patients with AMLs ≥ 15 years. Ultrasound was the most frequently used imaging modality. CONCLUSIONS: Knowledge of renal AML in TSC patients and their parents was lower than expected, and follow-up by renal imaging was suboptimal for a substantial proportion of patients. Patients and parents should be informed about the risk and symptoms of renal bleeding, at the latest when the patient is 15 years. Monitoring the growth of AMLs should be standardized to comply with guidelines. Transition between adolescence and adulthood is a high-risk period and ensuring appropriate follow-up at this time is particularly important.

[Multiple hypochromic or achromic macules in children and risk of tuberous sclerosis]. / Macules hypochromiques ou achromiques multiples de l'enfant et risque de sclérose tubéreuse de Bourneville.

AIM: To describe in a large paediatric cohort the characteristics of hypopigmented and depigmented (hypochromatic and achromic) macules with no clear diagnosis but potentially evocative of tuberous sclerosis (TS). PATIENTS AND METHODS: This was a retrospective multicentre study performed between 2010 and 2017 at a reference centre for rare skin diseases; it included all children consulting for hypochromic and achromic macules. A descriptive analysis was made of the characteristics of macules with no clear diagnosis, enabling them to be classified in three secondary groups: TS certain, TS ruled out, TS uncertain. RESULTS: Of the 3300 children seen during this 7-year period 7,265 were consulting for hypochromic or achromic macules, with no clear diagnosis in 18 cases: 7 girls and 11 boys of median age at 7.21 years (range: 4 months to 16 years and 7 months). The lesions were congenital in 7 cases. The number of macules varied, with over 20 in some cases. The majority were in the form of ash-leaf spots, followed by the oval form. Two children were diagnosed at clinical examination, and 16 underwent it is not examinations, resulting in a diagnosis of certain ST in 6 of these cases. No particular characteristics of the macules appeared to guide the clinical examination towards ST or isolated lesions. Café-au-lait spots were more frequent in the group in which ST was ruled out than in the other two groups: 67% vs. 33% and 33%. Neurologic involvement was more common in children with certain or uncertain ST than in children in whom ST was ruled out (83% and 67% vs. 11%). CONCLUSION: No identified characteristics of stains enabled the clinical examination to confirm or rule out tuberous sclerosis. Screening for acute any signs of ST is essential. Diagnostic efficacy is enhanced by additional exams.

Pediatric Renal Angiomyolipomas in Tuberous Sclerosis Complex.

PURPOSE: Tuberous sclerosis complex is a genetic disorder characterized by the growth of hamartomas in multiple organs. Up to 80% of patients with tuberous sclerosis complex will have at least 1 angiomyolipoma in their lifetime. We describe the incidence and natural history of angiomyolipoma in a pediatric tuberous sclerosis complex population and analyze tumor growth to determine optimal renal imaging intervals in an effort to improve counseling, treatment and followup. MATERIALS AND METHODS: We performed a retrospective chart review of all patients with tuberous sclerosis complex from 2004 to 2014. Patients were included if they had a clinical or genetic diagnosis of tuberous sclerosis complex and had undergone at least 1 renal imaging study. RESULTS: A total of 145 patients were analyzed. Median age was 14 years (range 0 to 28). Overall incidence of angiomyolipoma was 50.3%. Median age at first angiomyolipoma detection was 11 years (range 2 to 26). Median yearly angiomyolipoma growth rate stratified by age at first detection was 0.0 mm for patients 0 to 6 years old, 0.9 mm for those 7 to 11 years old, 2.5 mm for those 12 to 16 years old and 1.8 mm for those 17 years old or older. Median yearly angiomyolipoma growth rate stratified by tumor size at first detection was 0.1 mm for tumors 0.6 to 0.9 cm, 1.8 mm for those 1.0 to 1.9 cm and 4.3 mm for those 2.0 to 2.9 cm. A total of 35 patients (24.1%) received mTOR (mammalian target of rapamycin) inhibitors. Eight patients underwent a total of 13 surgical interventions, of whom 2 had previously been treated with mTOR inhibitors. Median patient age at surgical intervention was 18.0 years and median angiomyolipoma size was 5.0 cm. CONCLUSIONS: Angiomyolipoma growth in children with tuberous sclerosis complex can be rapid and unpredictable. We recommend yearly renal ultrasound in all patients with tuberous sclerosis complex, with consideration of magnetic resonance imaging in those at risk for rapid growth and future intervention (ie those older than 11 years and/or those with renal angiomyolipomas larger than 2 cm).

[Clinical and pathologic analysis of 414 cases of renal angiomyolipomain in a single institution].

Objective: To study the different clinicopathological characteristics between classic and epithelioid renal angiomyolipoma, and the relationships between clinicopathological characteristics and biological behaviors as basis for clinical treatment. Methods: The clinicopathological and follow-up data for the patients diagnosed with renal angiomyolipoma between 2004 and 2011 were retrospectively reviewed and analyzed. Results: There were 414 cases of renal angiomyolipoma diagnosed over 8 years ago, accounting for 8.1% (414/5 287) of all renal parenchymal tumors. The patients included 122 male and 292 female (male-to-female ratio of 1.0∶2.4), mean age 44.0 years (range 15-74 years). Of these, 195(47.1%) tumors occurred in the left kidney, 212(51.2%) in the right kidney and seven (1.7%) were bilateral. Clinically, some cases presented with hypochondrial pain, hematuria or palpable masses. Histologically, 394(95.2%) were classic angiomyolipoma, 20(4.8%) were epithelioid angiomyolipoma; 54, 23 and 7 cases had hemorrhage, necrosis and cystic degeneration, respectively; and 5, 30 and 14 cases had perirenal fat invasion, atypical cells and polymorphic/giant tumor cell. There was a positive correlation between atypical cells and epithelioid tumor type, respectively. The other clinicopathological parameters did not correlate with histological type. Follow-up data was available in 360 patients, with follow-up period of 3 to 99 months. One case died from other causes. The remaining patients were free of disease. Conclusions: Angiomyolipoma is a common renal parenchyma tumor. Clinically, it is usually biologically benign. Histologically, it can be either classic or epithelioid types. The epithelioid type should be differentiated from the classic renal cell carcinoma, Mit family translocation renal tumor and renal hemangioblastoma. Atypical cells, more commonly found in the epithelioid angiomyolipoma, do not affect the clinical prognosis of patients.

Active surveillance for renal angiomyolipoma: outcomes and factors predictive of delayed intervention.

OBJECTIVE: To present the outcomes of active surveillance (AS) for renal angiomyolipomas (AMLs) and to assess the clinical features predicting delayed intervention of this treatment option. PATIENTS AND METHODS: We retrospectively reviewed the outcomes of patients diagnosed with AMLs on computed tomography (CT) who were managed with AS at our institution. The AS protocol consisted of 6- and 12-month, then annual follow-up visits, each one including a physical examination and CT imaging. Discontinuation of AS was defined as the need or decision for an active procedure during the follow-up period. Causes of delayed intervention, as well as the type of active treatment (AT), were recorded. Clinical features at presentation of patients failing AS were compared with those who remained under AS at the time of the last follow-up. Predictive factors of delayed intervention were analysed using univariate and multivariate Cox regression models. RESULTS: Overall, 130 patients were included in the analysis, of whom 102 (78.5%) were incidentally diagnosed, while 15 (11.5%) and 13 patients (10%) presented with flank pain and haematuria, respectively. After a mean (sd) follow-up of 49 (40) months, 17 patients (13%) discontinued AS and underwent AT. Patients who underwent delayed intervention were more likely to present with a higher body mass index, larger tumours and symptomatic disease. Angioembolization represented the first-line AT after AS (64.7%), whereas partial nephrectomy was adopted in 29.4% of patients. On the univariate analysis, risk factors for delayed intervention included tumour size ≥4 cm, symptoms at diagnosis, and history of concomitant or contralateral kidney disease. On the multivariate analysis, only tumour size and symptoms remained independently associated with discontinuation of AS. CONCLUSIONS: Tumour size and symptoms at initial presentation were highly predictive of discontinuation of AS in the management of AMLs. Selective angioembolization was the first-line option used for AT after AS was discontinued.

Prevalence of sporadic renal angiomyolipoma: a retrospective analysis of 61,389 in- and out-patients.

PURPOSE: To calculate the prevalence, localization, and growth of sporadic angiomyolipomas and to identify the predominant sex in the largest patient population reviewed to date. METHODS: Abdominal ultrasound analyses of 61,389 patients (49.7% women; 50.3% men) were consecutively collected using a PC-based, standardized documentation system from September 1999 to December 2012. The present study evaluates and presents this data. RESULTS: The population studied includes 270 cases of sporadic angiomyolipoma (184 females; 86 males). This represents an overall prevalence of 0.44%, with 0.60% in the female and 0.28% in the male subpopulations. Mean tumor size was 10.8 ± 5.8 mm. Fifty-seven percent of cases involved the right kidney and 43.0% the left kidney. Only 14 of the 270 patients presented with multiple angiomyolipomas, four of which were bilateral. Sixty-one cases were followed over a mean period of 25 months (range: 1-105 months) and showed no significant increase in tumor size during the period of observation. CONCLUSION: The analysis of 61,389 patients revealed a higher prevalence of sporadic angiomyolipoma than previously observed in smaller studies. There was a significantly higher prevalence in females than in males. Multiple and bilateral angiomyolipomas were rare, and tumor growth was marginal.

Patients' and physicians' awareness of clinical symptoms and disease severity in tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to disease manifestations including treatment-refractory epilepsy, intellectual disability and TSC-associated neuropsychiatric disorders, chronic kidney disease or progressive lung function decline. Given the complexity of this disease, multidisciplinary care in specialized TSC centres is recommended. We aimed to elucidate the state of knowledge of patients/caregivers and physicians on individual disease manifestations. We further examined whether the association to a TSC centre has an impact on the comprehensive consideration of potential disease manifestations. Therefore, a survey was performed in a cohort of German TSC patients and their physicians. Complete information was available for 94 patients with a median age of 18 years [range 1-55] and a sex distribution of 53.2% (male): 48.8% (female). Using almost identical questionnaires for patients/caregivers and their respective physician, there was a good correlation for disease assessments associated with relevant morbidity and mortality like epilepsy, renal angiomyolipoma, cardiac rhabdomyomas or intellectual disability. Correlation was moderate for several neuropsychiatric disorders and only poor for hypomelanotic macules, dental pits or retinal achromic patches. Estimation of overall disease severity using a numeric rating scale correlated highly significantly (Pearson correlation coefficient = 0.767; p < 0.001) between patients/caregivers and physicians. In general, physicians more likely quoted items as 'unknown' than patients (822 answers vs. 435 answers in the respective groups). Questionnaires completed by physicians who were associated with a specialized TSC centre declared a significantly lower proportion of items as unknown (mean 8.7% vs. 20.5%; p < 0.001). These findings indicate that patients treated by specialized TSC centres seem to obtain a more comprehensive surveillance. Furthermore, it shows that there were reasonable surveillance strategies in general and sufficient patient/caregiver interaction and education in the examined cohort. However, for the most prominent disease characteristics there was a good awareness within both the patients/caregivers and the physicians group.

Gender differences in benign renal masses.

PURPOSE: To examine gender-specific differences in benign renal tumors. METHODS: This retrospective study included 135 adult Caucasian patients with 143 benign renal tumors, which were treated surgically at a single institution. Demographics, comorbidity, histology, renal function, and management were compared by gender. A systematic review and meta-analysis of the literature were performed. RESULTS: A total of 73 women were compared with 62 men. The female-to-male ratio was significantly higher in patients with benign renal tumors than in those with renal cell carcinoma (1.18:1 vs. 0.57:1, p < 0.001). Only 17 % of benign renal tumors were correctly classified by preoperative computed tomography. The most frequently observed histological types were oncocytoma (44 %) and angiomyolipoma (37 %). Angiomyolipoma occurred more than twice as often in women than in men (72 vs. 28 %), while oncocytoma was more frequently found in men (59 vs. 41 %, p = 0.001). Men with benign renal tumors were older (p = 0.002) and had higher body mass indices (p = 0.019), higher comorbidity indices (p < 0.001), lower ECOG performance status (p < 0.001), and smaller tumors (p = 0.045). No differences were seen in pack years, mode of diagnosis, bilaterality, renal function, use of laparoscopic surgery, and the rate of radical nephrectomy. In the meta-analysis of 9,665 renal tumors, women had a 2.55-fold increased chance of benign pathology and a greater chance of angiomyolipoma (OR 4.66) than men. CONCLUSIONS: This study demonstrated several gender-specific differences in benign renal tumors, especially in the histological types. Despite this, clinical-pathological features and management of benign renal tumors in men and women appear more alike than different.

Histopathological spectrum of adult renal tumours: A single center experience and review of literature.

Background: Renal tumors constitute approximately 3% of all malignancies in adults. They form a heterogenous group with variable morphological, immunohistochemical, and molecular features. Aim: The objective of this study was to analyze the spectrum of adult renal tumors at a tertiary care center and study the demographic and histomorphological features. Materials and Methods: In this study, 55/87 nephrectomy specimens resected for adult renal tumors during a 1-year period were analyzed retrospectively. Results: There were 4 benign (7.2%) and 51 (92.7%) malignant tumors. There was a male preponderance with a male: female ratio of 3.42:1. The tumors were seen to occur equally in both kidneys. The most common tumor was clear cell renal cell carcinoma (RCC), the conventional type accounting for 65.5% of our study group. There were one each of multilocular cystic renal neoplasm of low malignant potential, papillary RCC, chromophobe RCC, Mit family RCC, oncocytoma and angiomyolipoma and two clear cell papillary RCC during this 1-year period. Uncommon tumors included neuroendocrine carcinoma (1), epithelioid angiomyolipoma (1), mixed epithelial stromal tumor (1), Ewings sarcoma (2), and glomangioma (1). Five cases of urothelial carcinoma of renal pelvis/ureter also were present. Conclusion: This article gives an overview of the spectrum of adult renal tumors at a tertiary care center with an in-depth literature review providing recent advances in each category of tumors.

Incidence of Benign Renal Masses in a Contemporary Cohort of Patients Receiving Partial Nephrectomy for Presumed Renal Cell Carcinoma.

INTRODUCTION: Over the past decade and a half, advances in diagnostic imaging as well as an increased utilization of active surveillance (AS) and renal mass biopsy (RMB) have led to an improved ability to identify benign lesions prior to partial nephrectomy (PN). We seek to examine the incidence of benign pathology at the time of PN in a contemporary cohort of patients undergoing PN for presumed renal cell carcinoma (RCC). PATIENTS AND METHODS: We performed a chart review on a prospectively maintained database on a series of patients who underwent PN between January 1, 2006 and December 31, 2021 for solid renal masses concerning for RCC. RESULTS: One thousand two hundred twenty-nine patients were included in the analysis, with 240 patients (19.2%) identified to have benign disease on final pathology. Of patients with benign disease, (23%) of patients had angiomyolipoma (AML) and 64% had oncocytoma. Between 2006 and 2021, there was a significant increase in the incidence of benign pathology after PN. When examining 3-year rolling averages over this same time period, the incidence of oncocytoma appeared to increase while the incidence of AML decreased. CONCLUSION: Despite improvements in diagnostic tools and increased utilization of active surveillance, the overall incidence of benign pathology, particularly oncocytoma, did not decrease over time in this contemporary cohort of patients undergoing PN.

Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis.

Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of hepatic phenotype with genotype, age, and gender; and investigate the relationships between hepatic, renal, and pulmonary involvement. Hepatic angiomyolipomas (AML), cysts, and other benign lesions were identified in 30% of the cohort, and some lesions grew significantly over time. However, no patient had clinical symptoms or complications from hepatic lesions. TSC2 patients exhibited a higher frequency of AML compared to TSC1 patients (p = 0.037), and patients with no mutation identified exhibited a higher frequency of cysts compared to TSC2 patients (p = 0.023). Age was positively correlated with frequency of hepatic involvement (p < 0.001), whereas hepatic phenotype was independent of gender. Presence of hepatic AML was associated with presence of renal AML (p = 0.001). These findings confirm a high rate of asymptomatic hepatic lesions in TSC and further characterize the TSC phenotype.

Solitary solid renal mass: can we predict malignancy?

UNLABELLED: What's known on the subject? and What does the study add? It is known that the majority (80%) of solid renal masses are malignant. Most of the literature suggests that smaller tumour size is associated with a higher incidence of benign disease. We have confirmed that decreased tumour size is associated with benign disease, particularly for lesions <2 cm. Once radiologically apparent angiomyolipomas are excluded, the incidence of benign disease with small renal masses is lower than reported in the literature (11%). Furthermore, we have shown that small renal masses in females have a higher association with benign disease. Patient age and tumour location were not predictive of benign histology. We have also stratified our risks not only for benign disease but also for clinically indolent renal cancers to help physicians counsel patients with regard to managing these solid renal masses. OBJECTIVE: • To determine the clinical predictors of benign disease in patients with solitary solid renal masses. PATIENTS AND METHODS: • Pathology reports of patients who underwent radical or partial nephrectomy at two hospitals from 1998 to 2008 were reviewed. • Only patients with solitary solid unilateral renal masses were included. • Predictors of malignancy risk were assessed with univariate and multivariate logistic regression analysis. RESULTS: • A total of 592 patients with a mean (sd) age of 60 (13) years were included, 38% of whom were women. Radical and partial nephrectomy was performed in 66% and 34% of patients, respectively. • Renal masses were equally distributed on the right and left sides (49% vs 51%, P= 0.84). Masses were more commonly located in the upper and lower poles than in the mid pole (40.8% vs 38.7% vs 20.5%, respectively). • The mean tumour size was larger in patients who underwent radical compared with partial nephrectomy (6.8 cm vs 2.9 cm, P < 0.001). The rate of benign disease in our overall population was 9.5%. • On univariate and multivariate analysis, only a renal mass size <2 cm and female gender were predictive of benign disease. On further analysis the magnitude of this effect was found to be additive. CONCLUSIONS: • Renal masses <2 cm and female gender were associated with a higher probability of benign disease. • Patient age and tumour location were not predictive of benign disease.

Increased complication rate in obese patients undergoing laparoscopic adrenalectomy.

OBJECTIVES: Laparoscopic adrenalectomy has become the standard of care for resection of adrenal masses, with extremely low morbidity and mortality. This study investigates the difference in outcomes in patients who underwent laparoscopic adrenalectomy, comparing obese with healthy weight patients. METHODS: A retrospective chart review was performed on patients undergoing laparoscopic adrenalectomy between January 2000 and February 2010. Intraoperative and postoperative complications in the patients were compared. A patient with a body mass index >30kg/m(2) was considered obese. RESULTS: Eighty patients underwent laparoscopic adrenalectomy between January 2000 and February 2010. Forty-nine patients (61%) were considered obese based on the body mass index criteria. Operative time, estimated blood loss, and length of stay did not differ significantly between the 2 cohort groups. There was no 30-day mortality in the population. There were 9 complications in the obese population and no complications in the healthy weight population (P<.011). Four obese patients had intraoperative complications, and 5 obese patients had postoperative morbidity. CONCLUSIONS: A significant increase occurred in intraoperative and postoperative complications for obese individuals undergoing laparoscopic adrenalectomy compared with healthy weight individuals. However, high body mass index should not preclude elective laparoscopic adrenalectomy.

Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex.

BACKGROUND: Tuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies show numerous rare findings in TSC. Guidelines suggest routine abdominal and chest imaging to monitor these thoracoabdominal findings, but imaging is not uniformly done across centers. Thus, the prevalence of many findings is unknown. To answer this, we categorized the clinical reads of 1398 thoracoabdominal scans from 649 patients of all ages in the Cincinnati Children's Hospital TSC Repository Database. RESULTS: Typical TSC findings were present in many patients: kidney cysts (72%), kidney fat-containing angiomyolipomas (51%), kidney lipid-poor angiomyolipomas (27%), liver angiomyolipomas (19%), and lung nodules thought to represent multifocal micronodular pneumocyte hyperplasia (MMPH) (18%). While many features were more common in TSC2 patients, TSC1 patients had a higher prevalence of MMPH than TSC2 patients (24% versus 13%, p = 0.05). Many rare findings (e.g., lymphatic malformations and liver masses) are more common in TSC than in the general population. Additionally, most thoracoabdominal imaging findings increased with age except kidney cysts which decreased, with the 0-10 years age group having the highest percentage (69% 0-10 years, 49% 10-21 years, 48% 21 + years, p < 0.001). Finally, in our population, no patients had renal cell carcinoma found on abdominal imaging. CONCLUSIONS: These results show that regular thoracoabdominal scans in TSC may show several findings that should not be ignored or, conversely, over-reacted to when found in patients with TSC. Female sex, TSC2 mutation, and age are risk factors for many thoracoabdominal findings. The data suggest novel interactions of genetic mutation with pulmonary nodules and age with renal cysts. Finally, in agreement with other works, these findings indicate that several rare thoracoabdominal imaging findings occur at higher rates in the TSC population than in the general population. This work supports obtaining detailed thoracoabdominal imaging in patients with TSC.

Incidence and predictive factors of benign renal lesions in Korean patients with preoperative imaging diagnoses of renal cell carcinoma.

The present study was performed to determine the incidence and predictive factors of benign renal lesions in Korean patients undergoing nephrectomy for presumed renal cell carcinoma on preoperative imaging. We analyzed the pathologic reports and medical records of 1,598 eligible patients with unilateral, nonmetastatic, and nonfamilial renal masses. Of the 1,598 renal masses, 114 (7.1%) were benign lesions, including angiomyolipoma in 47 (2.9%), oncocytoma in 23 (1.4%), and complicated cysts in 18 (1.1%) patients. On univariate analysis, the proportion of benign lesions was significantly higher in female patients, and in patients with smaller tumors, cystic renal masses, and without gross hematuria as a presenting symptom. When renal lesions were stratified by tumor size, the proportion of benign as opposed to malignant lesions decreased significantly as tumor size increased. On multivariate analysis, female gender, smaller tumor size, and cystic lesions were significantly associated with benign histological features. The findings in this large cohort of Korean patients show a lower incidence (7.1%) of benign renal lesions than those of previous Western reports. Female gender, cystic renal lesions, and smaller tumor size are independent predictors of benign histological features.