Renal Hamartoma Research Articles

Arterial embolization in the treatment of multiple renal and hepatic hamartomas with spontaneous hemorrhage and 2-year follow-up: a case report

BackgroundHamartoma is a common benign tumor that usually occurs in the kidney, liver, lung, and pancreas. Large renal hamartomas may spontaneously rupture and hemorrhage, which is potentially life-threatening.Case presentationThis report describes a 46-year-old Han Chinese female patient with multiple renal and hepatic hamartomas with rupture and hemorrhage of giant hamartoma in the left kidney. She underwent arterial embolization three times successively, and her condition was stable during the 2-year follow-up. This report includes a review of the relevant literatureConclusionsthe findings in this report and previous literature suggest that arterial embolization can not only rapidly treat hamartoma hemorrhage in the acute phase but can also effectively control multiple lesions in the long term after repeated multisite arterial embolization.

Clinical study of renal artery cold perfusion combined with laparoscopic nephron retention in the treatment of complex renal angiomyolipoma.

The aim of this study is to summarize the surgical experience of renal artery cold perfusion combined with laparoscopic nephron preserving surgery for the treatment of complex renal angiomyolipoma and to evaluate the safety and feasibility of this surgical protocol. Clinical data of nine patients who received renal artery cold perfusion combined with laparoscopic nephron preserving surgery for complex renal angiomyolipoma in our hospital from February 2017 to August 2020 were retrospectively analyzed. The study parameters included imaging findings, total renal function before and after surgery, glomerular filtration rate (GFR) of affected kidney before and after surgery, and related complications. Eight of the nine patients successfully completed the operation, one patient was intolerant to renal artery balloon implantation, and the success rate of the operation was 88.89%. The mean maximum tumor diameter was 6.8 cm, and RENAL score was 7 points. Postoperative total renal function and GFR of the affected kidney had no significant changes compared with that before surgery, and imaging examination showed no tumor residue or recurrence. This surgical procedure is safe and feasible for complex renal angiomyolipoma and can be used as a surgical option for renal hamartoma. The long-term effect needs to be confirmed by further studies.

Value of miR-15b-5p combined with ultrasound imaging in early diagnosis of renal cell carcinoma

Renal cancer is one of the most common malignancies, and its incidence is increasing year by year, second only to prostate and bladder cancers. Therefore, early screening is of great significance to prevent and improve the prognosis of patients with renal cancer. Therefore, this study intends to observe the early diagnostic value of miR-15b-5p combined with Colour ultrasound imaging in renal cell carcinoma. In this study, the clinical samples of 76 patients with renal cell carcinoma diagnosed by pathology in our hospital from April 2020 to June 2022 were retrospectively collected as the research objects. Another 100 healthy people who underwent general physical examination in our hospital during the same period were selected to detect the expression level of miR-15b-5 in serum by RT-PCR together with the 76 experimental samples. Colour ultrasound imaging was used to detect the blood flow distribution around and inside the kidney of the patients with renal cancer, and the parameters were measured and compared with the gold standard for statistical analysis. The expression level of miR-15b-5 in renal cell carcinoma group was significantly higher than that in control group. Most of them showed renal hamartoma (40.79%). Benign renal tumors were mainly characterized by type I and II blood flow, while malignant renal tumors were characterized by type III and IV blood flow. Compared with the pathological gold standard, the diagnostic accuracy of ultrasound imaging was founded to be about 81.25%. Further ROC analysis showed that ultrasound imaging combined with miR-15b-5 detection could effectively improve the early screening value of renal cell carcinoma. We observed that miR-15b-5 has a specific expression level in the serum of patients with renal cell carcinoma, and its combination with ultrasound imaging can significantly improve the early detection of renal cell carcinoma. This approach is envisaged to be highly useful for, early diagnosis, intervention and management of patients with renal cell carcinoma.

The Effect of Histogram Analysis of DCE-MRI Parameters on Differentiating Renal Tumors.

We aimed to assess the role of histogram analysis of DCE-MRI parameters for accurately distinguishing renal clear cell carcinoma from renal hamartoma with minimal fat. Patients with renal tumors were enrolled from January 2013 to December 2015, including renal clear cell carcinoma (n = 39) and renal hamartoma (n = 10). Preoperative DCE-MR Imaging was performed, and whole-tumor regions of interest were drawn to obtain the corresponding histogram parameters, including skewness, kurtosis, frequency size, energy, quartile, etc. Histogram parameters differences between renal clear cell car-cinoma and renal hamartoma with minimal fat were compared. The diagnostic value of each significant parameter in predicting malignant tumors was determined. Histogram parameters of the DCE map contributed to differentiating the benign from malignant renal tumor groups. Histogram analysis of DCE maps could effectively present the heterogeneity of renal tumors and aid in differentiating benign and malignant tumors. ROC analysis results indicated that when frequency size = 1,732 was set as the threshold value, favorable diagnostic performance in predicting malignant tumors was achieved (AUC - 0.964; sensitivity - 84.6%; specificity - 100%), followed by skewness, Energy, Entropy, Uniformity, quartile 5, quartile 50, and kurtosis. Histogram analysis of DCE-MRI shows promise for differentiating benign and malignant renal tumors. Frequency size was the most significant parameter for predicting renal clear cell carcinoma.

Correlative analysis of lung CT findings in patients with Birt\u2013Hogg\u2013Dub\xe9 Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study

BackgroundThe diagnosis of patients with Birt–Hogg–Dubé (BHD) syndrome is always delayed (even for more than 10 years). Improving the understanding and diagnosis of this disease is vital for clinicians and radiologists. In this study we presented the chest computed tomography (CT) findings of BHD syndrome and offered suggestions for BHD cases with spontaneous pneumothorax.MethodsTwenty-six BHD patients from 11 families (10 men, 16 women; mean age: 46 ± 12 years, 20–68 years) were included. The clinical features of the patients included pneumothorax, renal lesions, and skin lesions. Twenty-three patients underwent chest CT imaging. The cyst condition of each patient derived from reconstructed chest CT imaging was recorded, including the cyst number, size, volume, pattern, and distribution.ResultsPneumothorax occurred in 54% (14/26) of patients. Among them, 43% (6/14) had pneumothorax more than twice. However, typical skin and renal lesions were absent. Four patients had renal hamartoma. CT showed that 23 (100%) patients had lung cysts. Pulmonary cysts were bilateral and multiple, round, irregular, or willow-like. And 93.6% of the large cysts (long-axis diameter ≥ 20 mm) were under the pleura, and near the mediastinum and spine. The long-axis diameter, short-axis diameter and volume of the largest cysts were associated with the occurrence of pneumothorax (all P < 0.05).ConclusionsChest CT imaging can reveal some characteristic features of BHD syndrome. The occurrence of pneumothorax in BHD patients is closely related to their pulmonary cystic lesions.

DIAGNOSTIC VALUE OF MULTI-SLICE CT SCAN FOR RENAL ANGIO- MYOLIPOMA DETECTION: A CASE REPORT

Background: Angiomyolipoma (AML) is a rare solid benign tumor that occurs at many sites, more commonly in the kidney, which arises from either the renal pelvis or the sinus, also referred to as renal hamartoma. AML is composed of blood vessels, smooth muscle cells, and fat hence the name. They are seen 80-90% as isolated lesions that occur sporadically and seen 25-50% of patients with tuberous sclerosis. AML may hard to be distinguished from renal cell carcinoma because of its presentation as enlarged lump. Computed tomography may help to diagnose AML. To get a definite diagnosis of AML, excision and histopathological examination is recommended in symptomatic patients, especially to prevent rupture hemorrhage. Objective: The purpose of this study was to evaluate multi-slice computed tomography with contrast in a male patient aged 49 years with Angiomyolipoma Case description: We herein present a case of renal AML in a 49 years old male patient, who presented with left flank pain for ~1 year. He has no history of hematuria and dysuria and tuberous sclerosis. Multi-slice computed tomography with contrast demonstrates a hypodense inhomogenous mass measuring 11x9,3 cm in the upper pole of the left kidney, hypertrophy of the left kidney, and hump sign of left kidney. At the later date, the patient underwent total left nephrectomy at another hospital and the postoperative histopathological examination confirmed the lesion as an AML. Conclusion: Angiomyolipoma is a rare benign tumor which usually occurs in the kidney that can be confused with malignant tumor. Ultrasonography and computed tomography can help to diagnose AML. The symptomatic patient requires surgical intervention.

Giant Renal Angiomyolipoma: A Case Report

Renal Angiomyolipoma (AML), moreover known as a renal hamartoma, is a solid tumor with no malignant characteristics. The inheritance pattern of renal AML is autosomal dominant. If the lesion grows to a large size, a series of clinical manifestations and important complications might also occur. This research paper presents a case of huge renal AML in a 47-year-old lady, who visited the Emergency Department of Bahrain Defence Forces Hospital with right-sided abdominal pain of sudden onset. The patient underwent a total right nephrectomy. The resected mass was sized 10.5 x 13 x 14 cm. Postoperative histopathological examination confirmed the lesion as a huge renal AML. Due to the huge size of the tumor, it is crucial to record similar cases, along with their diagnosis and treatment. Keywords: Abdominal pain, Angiomyolipoma, Hamartoma, Kidney Neoplasms, Nephrectomy

Single-center experience of robot-assisted laparoscopic nephron-sparing surgery for giant renal hamartoma

The clinical data of 22 patients with giant renal hamartoma in Zhejiang Provincial People's Hospital who underwent robot-assisted laparoscopic nephron-sparing surgery from October 2014 to January 2020 were retrospectively analyzed. All the patients successfully completed the operation. The operation time and renal artery occlusion time was (179±34) min and (19.8±2.5) min, respectively. The intraoperative blood loss was (117±62) ml, and the postoperative hospital stay was (9.0±1.5) d. All cases were confirmed as renal angiomyolipoma by postoperative pathology. No urine leakage, postoperative bleeding and other complications occurred. Postoperative telephone follow-up was performed for 6 to 52 months, and no tumor recurrence on the surgical side was reported.

Activation of the NLRC4 inflammasome in renal tubular epithelial cell injury in diabetic nephropathy.

Renal tubular interstitial injury plays a key role in the progression of diabetic nephropathy (DN) and, thus, the study of renal tubular injury in DN is important. The aim of the present study was to elucidate the role of the NLR family CARD domain containing 4 (NLRC4) inflammasome in renal tubular epithelial cell (RTEC) injury in DN. Human kidney biopsy tissues were obtained from patients with DN, and normal kidney tissues were obtained from nephrectomies performed for renal hamartoma. Human RTECs (HK2 cells) were divided into normal glucose (D-glucose 5.6 mmol/l), high glucose (HG; 30 mmol/l), high osmotic (D-glucose 5.6 mmol/l + D-mannitol 24.4 mmol/l), HG + NLRC4 small interfering (si)RNA or HG + siRNA control groups. Then, the expression levels of NLRC4, PTEN-induced kinase 1 (PINK1) and parkin, as well as the levels of mitochondrial reactive oxygen species, which are associated with mitophagy, were observed. The expression levels of NLRC4, PINK1, parkin and phosphorylated parkin in the RTECs of patients with DN were higher compared with those in normal controls. In HK2 cells, HG stimulated the expression of NLRC4, the secretion of IL-1β and IL-18 and cell death. Moreover, knockdown of NLRC4 expression in HK2 cells treated with HG reduced the secretion of the inflammatory cytokines, IL-1β and IL-18. The findings of the present study may provide a rationale for the development of treatments for patients with DN by preventing inflammasome activation.

The tuberous sclerosis complex-associated giant renal angiomyolipoma: A case report.

Renal angiomyolipoma (RAML), also referred to as renal hamartoma, is a rare benign tumor. There are two types of RAML, which include the tuberous sclerosis complex (TSC)-associated type and the sporadic type. TSC is an autosomal dominant genetic disease characterized by the growth of benign tumors in the skin, brain, kidneys, lung and heart. TSC leads to organ dysfunction, as the normal parenchyma is replaced by a variety of cell types. The current study presents a case of giant RAML in a 20-year-old female, who was hospitalized for epileptic seizures. Large abdominal lesions were detected during hospitalization. Subsequently, she underwent open mass resection and right kidney partial resection. Postoperative pathological examination confirmed that the mass was angiomyolipoma.

An infant with an abdominal mass

Mesoblastic nephroma (MN), also known as congenital mesoblastic nephroma or fetal renal hamartoma, is a rare renal mesenchymal tumor with low malignant potential, occurring most commonly in infants. We present a rare case of cellular mesoblastoma, which could be diagnosed on fine needle aspiration cytology complemented with cell-block immunocytochemistry. The cytopathologists need to be aware of the cytologic and immunocytochemical features of this entity, to accurately diagnose these cases pre-operatively, so as to avoid unnecessary administration of chemotherapy to these infants.

Neonatal Nephromegaly Due to Homozygous Variant in the DIS3L2 Gene is Consistent with the Genetic Diagnosis of Perlman Syndrome

Background: Perlman syndrome is an uncommon genetic disorder grouped with overgrowth syndrome in which an abnormal increase in the size of the body or a body part of the infant often noticed at birth. The disorder, usually affects the kidneys as main findings. Perlman syndrome inherited as an autosomal recessive pattern. People with this condition are generally born with renal abnormalities also called renal hamartomas, nephroblastomatosis also been grouped with Renal cell carcinoma. The characteristic features include polyhydramnios, fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly mainly hepatomegaly and nephromegaly, dysmorphic facial features, and an increased risk for Wilms’ tumor at an early age. The prognosis of Perlman syndrome is poor with high morbidity and mortality rate. Material and Methods: We report 3 months old female infant from Saudi origin product of consanguineous marriage with prenatal sonographic signs suggestive of Perlman Syndrome specifically polyhydramnios, bilateral nephromegaly with fetal ascites. The clinical course was marked by neonatal respiratory distress, cyanosis and refractory hypoxemia with chylothorax required mechanical ventilation. Frequent hospitalization since that due to frequent attacks of apnea and chest infections. Discussion and Conclusion: The constellation of clinical presentation and radiological finding confirmed by Molecular investigations showed a homozygous variant c.1810C>T p.(Gln604*) in the DIS3L2 gene (OMIM : 614184 ) which is consistent with Autosomal Recessive Perlman syndrome.

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

BackgroundBirt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncating mutations. The aim of this study is to better characterize the clinical features and mutation spectrum of Chinese BHDS patients and to systematically evaluate the effects of non-truncating mutations on mRNA splicing pattern.MethodsWe enrolled 47 patients from 39 unrelated families with symptoms highly suggestive of BHDS after informed consent and detailed clinical data were collected. Exon sequencing followed by multiplex ligation-dependent probe amplification testing were applied for mutation screening. The effects of non-truncating mutations, including 15 missense mutations and 6 in-frame deletions, on mRNA splicing were investigated by minigene assays.ResultsA total of 24 FLCN germline variants were found in 39 patients from 31 distinct families. Out of these patients, 100% (36/36) presented with lung cysts and 58.3% (21/36) had experienced spontaneous pneumothorax. Seventeen mutation carriers had skin lesions (47.2%, 17/36) and 9 (30%, 9/30) had kidney lesions including 8 with renal cysts and 1 with renal hamartoma. Among all detected variants 14 (58.3%, 14/24) were novel, including 11 variants classified to be pathogenic and 3 variants of uncertain significance. None of 21 non-truncating mutations changed the mRNA splicing pattern of minigenes.ConclusionsWe found different clinical features of Chinese BHDS patients compared with Caucasians, with more lung cysts and pneumothorax but fewer skin lesions and malignant renal cancer. Chinese patients with BHDS also have a different mutation spectrum from other races. Non-truncating mutations in FLCN did not disrupt mRNA splicing pattern, in turn supporting the hypothesis that these mutations impair folliculin function by disrupting the stability of the FLCN gene product.

Optineurin inhibits NLRP3 inflammasome activation by enhancing mitophagy of renal tubular cells in diabetic nephropathy.

Tubulointerstitial inflammation plays a critical role in the progression of diabetic nephropathy (DN), and nucleotide-binding oligomerization domain-like receptor family pyrin domain-containing 3 (NLRP3) inflammasomes contribute to renal interstitial inflammation in DN. Decreased expression of optineurin (OPTN) is also associated with the progression of DN. We investigated the role of OPTN in activation of the NLRP3 inflammasome in DN. We initially examined the renal biopsy tissues of 172 patients with type 2 DN and 32 nondiabetic patients with renal hamartoma. Expression of renal OPTN was significantly lower in patients with DN and negatively correlated with urinary levels of IL-1β and IL-18. Confocal microscopy analysis of the biopsies indicated no NLRP3 or IL-1β staining in OPTN-positive renal tubular epithelial cells (RTECs), indicating a negative correlation of OPTN expression with the activation of NLRP3 inflammasome. In vitro studies of murine RTECs indicated the levels of OPTN mRNA and protein decreased significantly after stimulation by a high glucose (HG) treatment. Relative to RTECs given HG, RTECs overexpressing OPTN showed significantly lower levels of NLRP3 expression, cleavage of caspase-1 and IL-1β, and release of IL-1 β and IL-18. Overexpression of OPTN in the presence of HG significantly increased the costaining of microtubule-associated protein 1A/1B-light chain 3-II and translocase of outer mitochondrial membrane 20 in RTECs, suggesting that OPTN enhances mitophagy. In addition, mitochondrial division inhibitor 1 blocked the inhibitory effect of OPTN overexpression on the activation of NLRP3 inflammasome in the presence of HG, indicating that OPTN overexpression inhibited NLRP3 inflammasome activation by enhancement of mitophagy. OPTN gene silencing significantly enhanced production of mitochondrial reactive oxygen species (mtROS) in the presence of HG. Compared with HG+OPTN small interfering RNA (siRNA)-treated RTECs, HG+OPTN siRNA+MitoTempo-treated RTECs attenuated NLRP3 inflammasome activation, suggesting that OPTN gene silencing activates the NLRP3 inflammasome by increasing mtROS in HG-treated RTECs. Taken together, our results demonstrate that OPTN inhibits the activation of NLRP3 inflammasome by enhancing mitophagy.-Chen, K., Feng, L., Hu, W., Chen, J., Wang, X., Wang, L., He, Y. Optineurin inhibits NLRP3 inflammasome activation by enhancing mitophagy of renal tubular cells in diabetic nephropathy.

A case of Giant Renal Angiomyolipoma in Tuberous Sclerosis Complex

ABSTRACT:Angiomyolipomas also referred to as renal hamartoma is a benign lesion.They are either sporadic or associated with syndromes like tuberous sclerosis. Here we present a case of 58yrs old male patient, who presented with left sided abdominal pain for 1month.On examination over face Adenoma Sebaceum was present.Ultrasound abdomen and contrast enhanced computed tomography showed bilateral renal angiomyolipoma with aneurysm over left side.On plain computed tomography of head subependymal calcifications were present.Left Nephrectomy was done and histopathology revealed Angiomyolipoma.

Giant renal angiomyolipoma: A case report.

Renal angiomyolipoma (AML), also referred to as renal hamartoma, is a rare solid tumor without malignant characteristics. The inheritance pattern of renal AML is autosomal dominant. If the lesion grows to a large size, a series of clinical manifestations and serious complications may occur. We herein present a case of giant renal AML in a 34-year-old female patient, who presented with left-sided abdominal bloating for ~6 months. Following abdominal ultrasound and computed tomography examination, the patient underwent total left nephrectomy. The resected mass was sized 29×20x10 cm. Postoperative histopathological examination confirmed the lesion as a giant renal AML. There are only few cases of giant renal AML (>20 cm) reported in the literature to date. Due to the large size of the tumor, it is crucial to report similar cases, their diagnosis and treatment.

Assessment of tumors in children with tuberous sclerosis: a single centre's experience.

As a result of mutations in TSC1 (9q34) and TSC2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mTor) signaling pathway is overactivated in patients with tuberous sclerosis. Abnormal cell proliferation and differentiation is responsible for the growth several different tumors. The aim of this study was to review tumors in our patients with tuberous sclerosis. Thirty-six patients with tuberous sclerosis were reviewed retrospectively in terms of age, sex, family history, clinical findings, presence of tumors, and treatments. Our study included 36 patients (18/18:M/F) aged between two days and 17 years with a median age of 6 years. There were hypopigmented spots in 30 patients, seizures in 28 patients, and a family history in 11 patients. Tumors related to tuberous sclerosis were renal angiomyolipomas in 21 patients, cardiac rhabdomyomas in 11, subependymal giant cell astrocytomas in seven, and non renal hamartoma in one patient. Everolimus treatment was used in only two patients because of hemodynamic instability. Tuberous sclerosis is a multisystemic disease characterized by the presence of various benign tumors and neurologic disorders. Renal angiomyolipomas, cardiac rhabdomyomas, and subependymal giant cell astrocytomas are commonly observed in patients with tuberous sclerosis. mTOR inhibitors such as everolimus and sirolimus have been increasingly used in the treatment of these tumors. However, the duration and optimal dose of mTOR inhibitors is still controversial and should be used in selected cases.

Clinical value of percutaneous ethanol ablation in complicated renal carcinoma

To probe clinical value of percutaneous ethanol ablation (PEA) in complicated renal carcinoma. 10 cases complicated renal carcinoma patients with 16 lesions ranged from 1.7-8.4 cm totally, renal cancer in 7 cases, renal hamartoma in 3 cases,underwent CT guided percutaneous ethanol ablation (PEA) by local anesthesia Plain and contrast CT scan was adopted to evaluate clinical effect and make follow-up. Each patient accepted 2 times PEA in average with follow-up time ranged from 2 to 26 months averaged in 18 months. No recurrence was seen in 1 case isolated renal patient unfortunately with renal cancer through 1 year and 9 months follow-up after 2 times PEA. The other isolated renal cancer patient died of acute renal failure after 4 times PEA. Lesions were fully ablated in 2 cases renal cancer patients with low back pain and blood urine and symptoms disappeared after PEA accordingly. Other 3 cases renal cancer patients went through 1 year and 6 months, 2 years and 2 months, and 1 year follow-up respectively. 1 case died of distant metastasis and 2 cases kept stabilization evaluated by CT scan. Hemorrhage within lesions disappeared in 2 cases renal hamartoma after just one time PEA, which kept stabilization through 1 year, 1 year and 10 months follow-up respectively. 1 case hamartoma patient gave up treatment after 2 times PEA. No complications including urinary fistula, hemorrhage, intestinal perforation and needle track implantation were seen in all patients. CT guided PEA is a microinvasive, positive curative effect and facultative method in treating complicated renal carcinomas. But for isolated renal patient with renal cancer,PEA should be performed cautiously.

Cesarean delivery in a patient with bilateral renal huge hamartoma and uterus perivascular epitheliojd cell tumor

Cesarean delivery in a patient with bilateral renal huge hamartoma and uterus perivascular epitheliojd cell tumor

Evaluating the perfusion of occupying lesions of kidney and bladder with contrast-enhanced ultrasound

Purpose To evaluate the clinical diagnostic value of contrast-enhanced ultrasound (CEUS) for occupying lesions of kidney and bladder. Materials and Methods CEUS was performed for a total of 50 kidney and bladder occupying lesions in 47 cases, and CEUS manifestations of these lesions were observed and analyzed. Patterns of dynamic changes in perfusion phases of CEUS were summarized and compared with results of postoperative pathology, enhanced computed tomography (CT), magnetic resonance imaging (MRI), and follow-ups. Results CEUS results showed that there were 22 cases of malignant renal tumors, 11 cases of benign lesions, two cases of renal column hypertrophy, and 12 cases of malignant bladder tumors (15 lesions). Renal cell carcinoma exhibited various CEUS manifestation, with the majority showing fast filling and hyper-enhancement. CEUS manifestation of renal hamartoma was characterized by slow filling and slow outflow. Renal cystic lesions always exhibited no enhancement within the cysts. Renal column hypertrophy exhibited the same enhancement pattern as the renal cortex. CEUS manifestation of bladder carcinoma was mainly characterized by quick filling, quick outflow, and hyperenhancement. Conclusions CEUS offers real-time observation of perfusion in occupying lesions of kidney and bladder, but the enhancement pattern of kidney occupying lesions was complex; therefore, combination of enhanced CT, MRI, and CEUS may be necessary.