Reprint of: lessons from histopathologic examination of nephrectomy specimens in patients with tuberous sclerosis complex: cysts, angiomyolipomas & renal cell carcinoma.

Renal manifestations in patients with tuberous sclerosis complex (TSC) include cysts, angiomyolipoma, and renal cell carcinoma. Unlike many hereditary predisposition syndromes, the spectrum of renal tumors in TSC patients (including both angiomyolipoma and renal cell carcinoma) is broad, with significant morphologic heterogeneity. An improved understanding of histopathologic findings in TSC patients and associated clinicopathologic correlates has significant implications not just in establishing a diagnosis of TSC, but also in the recognition of sporadic tumors occurring secondary to somatic alterations of TSC1/TSC2/MTOR pathway genes and accurate prognostication. In this review, we have discussed issues relevant to clinical management based on histopathologic findings in nephrectomy specimens from patients with TSC. This includes discussions related to screening for TSC, diagnosis of PKD1/TSC2 contiguous gene deletion syndrome, the morphologic spectrum of angiomyolipoma and renal epithelium-derived neoplasia, including the risk of disease progression.

Hepatic epithelioid angiomyolipoma is scattered and unsuitable for surgery: a case report.

Hepatic epithelioid angiomyolipoma (HEAML) is a rare tumour of mesenchymal tissue with a malignant tendency. Occurring most frequently in women, the relative incidence in men and women, according to incomplete statistics, is approximately 1:5. In rare cases, disease occurrence and development is hidden. Lesions are generally discovered as chance findings by patients; abdominal pain is the first symptom, and imaging has no specificity in diagnosing the disease. Therefore, great difficulties exist in the diagnosis and treatment of HEAML. Here, the case of a 51-year-old female patient with a history of hepatitis B, and abdominal pain over 8 months as the initial symptom, is described. The patient was found to have multiple intrahepatic angiomyolipoma. Due to the small and scattered foci, complete resection was impossible, and because of her history of hepatitis B, conservative treatment was undertaken, with the patient undergoing regular follow-up. When hepatic cell carcinoma could not be excluded, the patient was treated with transcatheter arterial chemoembolization. No tumour neogenesis or metastasis was detected at the 1-year follow-up.

[Angiomyolipoma of the liver]. / Angiomiolipoma pecheni.

Angiomyolipoma of the liver is an extremely rare neoplasm, the number of reported cases of this disease is only about 600 worldwide. Morphological criteria for neoplasm verification present difficulties due to low occurrence and complexity of differential diagnostic search. In this regard, this observation is of interest to pathologists and physicians. A special feature of this tumor is the presence of three components: adipose, vascular and muscular with characteristic epithelioid cells. The article presents the clinical and morphological characteristics of liver angiomyolipoma in a 40-year-old woman. The diagnosis was confirmed by immunohistochemical study: a positive reaction with HMB45, Melan A, SMA, desmin, CD31, CD34; proliferative index was more than 25%.

Hepatic epithelioid angiomyolipoma: magnetic resonance imaging characteristics.

PURPOSE: The aim of the study was to analyze MR imaging features of hepatic epithelioid angiomyolipoma (HEAML). METHODS: This study included 113 patients with 122 pathologically confirmed HEAML who underwent enhanced MRI scanning before partial hepatectomy. MR images were retrospectively reviewed and correlated with pathological findings. RESULTS: The mean age of 113 patients was 48.12 ± 11.77 years old, and the male to female ratio was 1:3.35 with 87 females (76.99%). 107 (94.69%) patients presented as single tumor, and 96 patients (84.96%) were asymptomatic. 122 HEAML lesions were diagnosed pathologically in 113 patients, with the average of 4.47 ± 3.26 cm. 109 lesions (89.34%) and 108 lesions (88.52%) showed regular and well-defined boundary. On T1WI, 121 lesions (99.18%) mainly presented hypointensity. On T2WI, 118 lesions (96.72%) and 109 lesions (89.34%) mainly showed hyperintensity and heterogeneous signals. Most of the lesions (97.46%) showed hyperintensity on DWI. 118 lesions (96.72%) manifested as severe hyperenhancement and 106 lesions (86.89%) showed heterogeneity during the arterial phase. As for the lesion enhancement pattern, 73 lesions (59.84%) presented as persistent enhancement, 37 lesions (30.33%) as wash out, 8 lesions (6.56%) as degressive enhancement, and 4 lesions (3.28%) as poor blood supply. Additionally, 96 lesions (78.69%) with intra-tumor vessels and 85 lesions (69.67%) with outer rim were confirmed during the delayed phase. CONCLUSION: At enhanced MRI, hypointensity on T1WI, hyperintensity and heterogeneous signals on T2WI, hyperintensity on DWI, little or no fat component, heterogenous hyperenhancement, persistent enhancement, intra-tumor vessels, and outer rim would be helpful to diagnose HEAML.

p53 aberration and TFE3 gene amplification may be predictors of adverse prognosis in epithelioid angiomyolipoma of the kidney.

BACKGROUND: Although epithelioid angiomyolipoma of the kidney has been studied by several groups, the reported prevalence of malignant behavior remains uncertain and there are not yet definitive predictive biomarkers. We evaluated the behavior of renal epithelioid angiomyolipoma in a consecutive series in a single institution and investigated the prognostic value of aberrant p53 expression and TFE3 gene abnormality. METHODS: We retrospectively reviewed 14 epithelioid angiomyolipomas, most with pure or close to pure epithelioid components, comprising 12 consecutive cases who had attended our institution and two consultation cases. Fluorescence in situ hybridization with TFE3 break-apart probe was performed on 14 cases. The 14 cases were also labeled for p53 and TFE3 by immunohistochemistry. All cases were followed up. RESULTS: Three of the epithelioid angiomyolipomas were strongly positive for TFE3 and two had a mutant expression of p53. Although no TFE3 gene rearrangement was found, the two tumors with strong TFE3 expression showed TFE3 gene amplification. Follow-up details were available for seven of the 12 consecutive cases: two of them had developed metastases and died (29%), their mean overall survival was 41 months, and both had mutant p53 expression. The two consultation cases with TFE3 gene amplification developed recurrence/metastasis within 1 year after surgery. CONCLUSIONS: Our series study from a single institution presented the prevalence of malignant behavior in pure epithelioid angiomyolipomas, although the small number of cases with follow-up data greatly reduced the accuracy. p53 may be a prognostic marker for epithelioid angiomyolipoma. Cases with TFE3 gene amplification had poor prognoses.

Cytomorphology of renal angiomyolipoma: performance and accuracy of touch preparation of core needle biopsy.

INTRODUCTION: The recognition of renal angiomyolipoma (AML) can be challenging based on cytology preparations such as touch preparation (TP) of core needle biopsy (CNB) and fine needle aspiration. This study evaluated the cytologic features and performance of TP of CNB during rapid onsite evaluation (ROSE) of renal AML. MATERIALS AND METHODS: A pathology database search was performed between 2000 and 2021 for renal CNB specimens with ROSE using TP that were primarily favored AML on preliminary impression and/or confirmed AML on CNB or subsequent resection. RESULTS: Twenty confirmed AML were identified (90% female, median age 65.5 years). Sixteen (80%) were deemed adequate for diagnosis at the time of ROSE, and 9 of 16 (56%) had available onsite impression: AML was favored in 4 of 9 cases (44%). Examination of TP slides revealed spindle/epithelioid cells in 20 (100%), adipose tissue in 14 (70%), and blood vessels in 3 (15%). All AML cases were subsequently confirmed by immunohistochemistry. Additionally, 3 other cases with ROSE favoring AML revealed to be "renal parenchyma with fibrosis," clear cell papillary renal cell tumor and clear cell renal cell carcinoma. CONCLUSIONS: Onsite evaluation of TP ensures adequate material for diagnosis in most renal AML. Spindle/epithelioid cells were the most common component seen on TP, followed by adipose tissue. Blood vessels were rarely seen. While the recognition of AML at ROSE can be challenging, proper evaluation is important in obtaining adequate diagnostic tissue. Correlation with CNB and utilization of immunohistochemistry are crucial for arriving at the diagnosis.

Molecular Characterization of Malignant Renal Epithelioid Angiomyolipoma: A Review of Two Cases.

OBJECTIVES: Epithelioid angiomyolipoma (EAML, perivascular epithelioid cell tumor) is an uncommon primary renal tumor that may recur or metastasize, although there remain limited data for prediction of these outcomes. Here, we report two cases of renal EAML with molecular testing, adding to the existing literature of potential alterations associated with malignant behavior. METHODS: Tumors diagnosed as malignant renal EAML were identified, and clinical data, radiology, histology, immunohistochemistry, and molecular testing results were reviewed. RESULTS: Two cases of malignant renal EAML were identified, both of which demonstrated TSC2 and TP53 mutations. In ATRX, one had a mutation and the other had a variant of uncertain significance. In addition, one patient had a synchronous classic angiomyolipoma that lacked TP53 and ATRX alterations. CONCLUSIONS: These findings highlight the molecular landscape of malignant renal EAML and expand on the existing literature suggesting a role for TP53 and ATRX alterations in malignant progression of these tumors. The presence of synchronous benign and malignant tumors within the same patient offers a unique opportunity to directly compare the molecular alterations, further supporting the association with aggressive behavior.

Synchronous cutaneous malignant peripheral nerve sheath tumor and jejunal gastrointestinal stromal tumor and submucosal angiomyolipoma in type 1 neurofibromatosis: A case report and literature review.

RATIONALE: Type 1 neurofibromatosis (NF1) is one of the most prevalent genetic conditions. NF1 is characterized by cutaneous plexiform neurofibromas and café au lait skin pigmentation, and is inherited in an autosomal dominant trait with mutation in the neurofibromin 1 gene on chromosome 17. Neurofibromin is involved in Ras proto-oncogene regulation. Accordingly, NF1 may lead to malignancies, with a lifetime cancer risk of 60%. Malignant peripheral nerve sheath tumor (MPNST) is the leading cause of mortality due to NF1. The relevance of gastrointestinal stromal tumor (GIST) in NF1 is increasingly being reported in the literature and NF1-associated GIST has been identified to have an alternative molecular pathogenesis. PATIENT CONCERNS: A 62-years-old female had a 7 × 5 cm growing back mass in the background of various sized cutaneous neurofibromas with café au lait spots. Computed tomography performed in the workup revealed a 4.1 cm enhancing mass near the ileal mesentery. DIAGNOSES: NF1 affected by cutaneous MPNST of the back, and synchronous GIST and submucosal angiomyolipoma (AML) of the jejunum. INTERVENTIONS: The patient underwent laparoscopic jejunal mass excision, and excision and flap coverage for the back mass owing to the suspicion of multiple MPNSTs. However, the abdominal masses were diagnosed as GIST and AML following confirmation of the immunohistochemical profiles. Accordingly, the patient was administered adjuvant radiotherapy to the MPNST after surgery. OUTCOMES: Symptomatic improvements were achieved, and no subsequent relapses were observed. LESSONS: Although MPNST and GIST are not rare neoplasm in NF1, only 2 case reports have been published on the synchronous occurrence of these tumors. Moreover, no case report has been published on AML in NF1, except 1 renal AML in segmental neurofibromatosis. Identifying the clinical and pathologic significances of the NF1 is important to achieve improved diagnostic accuracy.

Safety and Effectiveness of Medical Therapy and Surgical Intervention for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex.

PURPOSE: Our study aimed to evaluate the effect of daily oral dose of everolimus in the treatment of patients with tuberous sclerosis complex (TSC) associated with renal angiomyolipoma (RAML), and the feasibility and safety of surgical treatment approach. METHODS: We retrospectively investigated a total of 13 patients diagnosed of TSC-associated renal angiomyolipoma (TSC-RAML) who were scheduled for everolimus therapy. At 3-9 months after starting everolimus therapy, 4 of the study patients were symptomatic and underwent partial renal resection surgery. Two of these surgeries were performed open nephron sparing surgery (NSS) after TAE (Trans-arterial embolization), while the remaining 2 underwent robot-assisted partial nephrectomy (RAPN). A multi-slice helical CT scan performed among all the patients every 3 months, which was used to measure the volume and the density of the lesion. RESULTS: Follow-up CT images revealed a significant reduction (P < .05) in the RAML volume, at a rate ranging from 11.6 to 42.5%, in response to everolimus therapy (10 mg/day) in TSC-RAML patients. Further, a significant decrease in the mean tumor density (P < .05), as compared to its baseline value, was also observed. Super-selective renal arterial embolization done prior to NSS was effective in reducing the intraoperative bleeding and stabilizing the patient during the NSS procedure: mean warm ischemia time was 29.5 minutes (range 18-40 minutes) and mean intraoperative bleeding volume was 275 mL (range 200-350 mL). Post-surgical (both NSS and RAPN) follow-up showed a favorable perioperative morbidity profile with good renal functional preservation. At the end of 2 years, all patients were well, with no signs of progression or recurrence of the condition, and demonstrated normal renal function. CONCLUSIONS: The results suggested oral everolimus as an effective non-invasive therapy to treat TSC-RAML patients. Post mTOR inhibitor therapy, NSS and RAPN are preferred mode of surgical intervention in symptomatic patients. TAE prior to NSS is beneficial.

Endovascular management of renal angiomyolipomas: Do coils have a benefit in terms of clinical success rates?

PURPOSE This study evaluated single center results of endovascular treatment in renal angiomyolipoma (AML) to determine whether there is clinical relevance of adding proximal coil embolization to distal particle embolization in terms of safety, efficacy and retreatment rates. METHODS A retrospective analysis was performed to evaluate patients undergoing transarterial embolization for renal AMLs from January 2007 to October 2020. Parameters regarding patient and tumor characteristics, embolization technique, treatment outcome and complications were recorded. Patients were divided into two groups as A (only particle group) and B (particle + coil group) based on the type of embolic agent used for treatment. Comparative analysis was performed between the two groups in terms of tumor size reduction, retreatment and complication rates. RESULT Forty-two patients (37 (88.1%) female, 5 (11.9%) male) harboring 48 AMLs were included in the study. The mean age was 43.46 (range 20 to 78). The technical success rate was 95.8% (46 of 48 procedures). The mean size reduction was 1.94±1 cm (p < 0.001) after treatments however, no significant difference was seen between groups in terms of tumor size reduction. Retreatment rates were 3.1% (1 of 32 cases) in group A and 14.3% (2 of 14 cases) in group B (p = 0.21). No significant difference was found between groups in terms of bleeding and complication rates during the perioperative period. Mean follow-up duration was 26.48±25.71 (range from 2 to 102) months. CONCLUSION In this study, no clear supplementary benefit was observed in terms of safety, and efficacy with the adjunction of coils to distal particle embolization in the management of AMLs.

Cirugía retroperitoneal asistida por robot por puerto único: un abordaje factible / Single-port robot-assisted retroperitoneal surgery: A feasible approach

Introducción: La cirugía mediante una única incisión ha sido un concepto perseguido en el campo de la mínima invasión para el tratamiento de diferentes afecciones. Este concepto, sumado a un abordaje retroperitoneal, puede suponer una disminución de la agresión al paciente a diferentes niveles. Describimos los primeros casos de cirugía retroperitoneal asistida por robot mediante puerto único de nuestro entorno. Material y métodos Presentamos 2 casos de pacientes con masas suprarrenales derechas con un tamaño superior a 4cm. El primer caso se trataba de una mujer de 55 años con diagnóstico incidental de angiomiolipoma, y el segundo, de un varón de 62 años con adenoma suprarrenal no funcionante. Ambos casos se operaron a través de una única incisión subcostal de 4cm mediante el sistema Da Vinci Xi®, anulando el brazo 4 sin realizar reasignaciones de lateralidad en consola. Resultados Los tiempos de consola para las cirugías fueron de 75 y 150min, con tiempos de acceso y acoplamiento robótico inferiores a 30min. El sangrado fue inferior a 100cc en ambas cirugías, sin necesidad de realizar incisiones accesorias o dejar tubo de drenaje. Las piezas quirúrgicas fueron extraídas por la misma incisión sin necesidad de ampliación. En ningún caso fue necesaria analgesia intravenosa postoperatoria (EVA 0) y la estancia fue inferior a 24h en ambos pacientes, sin reportarse ninguna complicación. Conclusiones La cirugía retroperitoneal asistida por robot mediante puerto único es un abordaje factible a través del sistema Da Vinci Xi® (AU)

Introduction: The concept of surgery through a single incision has been pursued in the field of minimal invasion for the treatment of different pathologies. This, added to a retroperitoneal approach, implies less aggression for the patient at different levels. We describe the first cases of single-port robot-assisted retroperitoneal surgery (SP-RARS) in our country using the Da Vinci Xi® system. Material and methods We present 2 cases of patients with right adrenal masses larger than 4cm. The first case was a 55-year-old woman with an incidental diagnosis of angiomyolipoma, and the second case was a 62-year-old man with a non-functioning adrenal adenoma. Both cases were operated through a single 4cm subcostal incision using the Da Vinci Xi® system, annulling arm 4 without reallocating laterality on the surgeon's console. Results Console times for surgeries were 75 and 150min, with access and docking times below 30min. Bleeding was less than 100cc in both surgeries with no need of accesory trocars, make new incisions or leave a drainage tube. The surgical specimens were removed through the same initial incision without the need for enlargement. Postoperative intravenous analgesia was not necessary in any case (VAS 0) and hospital stay was less than 24h in both patients, without reporting any complications. Conclusions SP-RARS is a feasible approach using the Da Vinci Xi® system (AU)

Primary retroperitoneal PEComa: an incidental finding.

Perivascular epithelioid cell neoplasm (PEComa) is a rare type of tumour, and primary retroperitoneal PEComa is rarer still. Although pulmonary lymphangioleiomyomatosis (LAM), angiomyolipomas and clear cell 'sugar' tumours of the lung are well described, relatively little is known about other members of the PEComa family. We describe a case of an asymptomatic retroperitoneal PEComa, lymphangioleiomyoma type, which appeared in a previously healthy middle-aged woman as an incidental finding, in a CT scan performed in the context of spontaneous pneumothorax. The patient underwent surgical excision of the tumour and the histopathological and immunohistochemical analysis of the surgical specimen made the definitive diagnosis. Although rare, reports of isolated retroperitoneal lymphangioleiomyoma and primary retroperitoneal PEComas NOS (not otherwise specified) are described in the literature, normally associated with pulmonary LAM. The patient's pulmonary imaging was normal. Short-term re-examination did not detect any recurrence. We also provide a literature review of this rare group of tumours.

Outcome and surgical management of symptomatic renal angiomyolipoma in Ibadan, Nigeria, Sub-Saharan Africa.

Background: Renal angiomyolipoma is the commonest benign solid kidney neoplasm though rare in clinical practice. The advent of radiological imaging techniques, refinement in surgical approach and techniques and availability of mammalian target of rapamycin have improved the outcome in these cohort of patients. Aim: To report our experience with the surgical management of renal angiomyolipoma in the sub-Saharan Africa. Patients and Methods: This was a retrospective review of the records in the operating theatre book of urology division of patients who underwent radical nephrectomy over a 7-year-period (January 2013 to December 2019). The histologically confirmed renal angiomyolipoma information were retrieved from the records in the Department of Pathology. The clinical data were obtained from the patients' case files by identifying the patient with their registration number and not their names. The clinical features, investigations done, treatment offered, and the outcome of management were recorded in an SPSS version 20. The data was analyzed using statistics of central tendency and percentage. Results: Only 3 females with symptomatic renal angiomyolipoma were managed. This represented 4.9% of 61 patients with solid renal masses managed in the study period. The mean age was 51.2 (ranged 40-70) years. The mean tumor size was 18.9 cm. All the patients underwent radical nephrectomy. The pre- and postoperative urea and creatinine remained normal. The median follow-up period was 21 (16.5-30) months and were asymptomatic. Conclusion: The incidence of renal angiomyolipoma among solid renal masses is 4.9% in our environment. Open radical nephrectomy is still the preferred method of treatment with satisfactory outcome.

Differentiation of Angiomyolipoma With Minimal Fat from Clear Cell Renal Cell Carcinoma Using Non-contrast Multiparametric Magnetic Resonance Imaging.

BACKGROUND/AIM: This study was conducted to ascertain the optimal combination of non-contrast magnetic resonance (MR) imaging sequences for the differential diagnosis between small angiomyolipoma (AML) with minimal fat and clear cell renal cell carcinoma (CCRCC). PATIENTS AND METHODS: Thirty-nine patients with pathologically proven AML with minimal fat (n=6) or CCRCC (n=33) measuring 4 cm or less were included. All underwent MR imaging before partial nephrectomy or percutaneous biopsy. Four quantitative parameters of tumors were evaluated: signal intensity (SI) index of T1W- gradient-echo imaging, SI index of T2- fat suppression imaging (T2-SI index), apparent diffusion coefficient (ADC) value, and standard deviation (SD) of ADC. These quantitative parameters were compared using Wilcoxon rank-sum test and receiver operating characteristic (ROC) curve analyses. The optimal combination of quantitative parameters was sought using logistic regression analysis. RESULTS: Comparison of quantitative parameters showed that the T2-SI index (median, AML with minimal fat vs. CCRCC; 0.74 vs. 1.27, p<0.001), ADC value (1.12 vs. 1.75, p=0.005), and SD of ADC (104 vs. 233, p<0.001) were significantly lower in AML with minimal fat than CCRCC. From the ROC curve analysis, the highest area under the curve (1.000; 100% sensitivity; 100% specificity) was obtained using the logistic regression model with the SD of ADC and T2-SI index or ADC value as explanatory variables. CONCLUSION: SD of ADC combined with T2-SI index or ADC value exhibited the highest diagnostic performance for differentiating small AML with minimal fat from CCRCC.

A Case Report of Adrenal Teratoma: Huge but Easy to Misdiagnose.

Primary adrenal teratoma is a rare lesion with a high misdiagnosis rate. In view of the fact that adrenal teratoma and adrenal gland are often inseparable, the removal of the affected adrenal gland seems inevitable. Thus, it is necessary for clinicians to differentiate adrenal teratoma from common adrenal lipoma diseases, such as adrenal angiomyolipoma, adrenal myelolipoma, lipoma, gangliocytoma, and so on. In this study, we reported the clinical and pathologic features of 7 patients surgically treated for adrenal mature teratomas from 2007 to 2020 in our hospital. We compared the clinical characteristics and surgical management in literature review cases with our cases. All patients were females and underwent open adrenalectomy or laparoscopic adrenalectomy, respectively. In our cases, there was no recurrence during the longest follow-up of 13 years. Adrenal teratoma is rare and easy to ignore. And once misdiagnosed, the surgeon may need to adjust the operation temporarily, extend the operation time and finally increase the operative risks. Our aim is mainly to help clinicians to raise awareness of adrenal teratomas, improve the diagnosis rates and optimize the treatment decision-making of this disease.

Kruppel-like Factor 2 Inhibits Proliferation in Renal Angiomyolipoma via IL-6/JAK/STAT3 Signaling Pathway.

BACKGROUND/AIM: The transcription factor Kruppel-like factor 2 (KLF2) is thought to act as a tumor suppressor. However, its expression and function in renal angiomyolipomas (AMLs) remains unclear. This study aimed to investigate the expression and function of KLF2 in AML cells. MATERIALS AND METHODS: KLF2 was detected in AML tissues by immunohistochemistry and quantitative real-time polymerase chain reaction. The associations between KLF2 expression levels and clinicopathological features of patients with AMLs were analyzed. To explore its function in AMLs, KLF2 was over-expressed, and cell proliferation was assessed using cell counting kit-8 assay. Through Gene set enrichment analysis (GSEA) of RNA sequencing data, the signaling pathways regulated by KLF2 were predicted. The KLF2-regulated signaling pathway was validated by western blotting. RESULTS: KLF2 expression was dramatically suppressed in clinical samples of patients with AMLs. Low KLF2 expression was significantly associated with a larger tumor size and higher incidence of tumor hemorrhage (p=0.008 and p=0.009, respectively). In addition, KLF2 overexpression markedly inhibited SV7 and UMB cell survival and proliferation. GSEA and western blotting analysis revealed that KLF2 down-regulated the IL-6/JAK/STAT3 signaling pathway. CONCLUSION: Collectively, KLF2 mediated AML cell growth by regulating the IL-6/JAK/STAT3 signaling pathway. These results indicate that KLF2 plays an important role in AML progression and provide novel insights into diagnostic and therapeutic biomarkers for AMLs.

Pulmonary lymphangioleiomyomatosis and renal angiomyolipoma in a patient with systemic lupus erythematosus: A case report.

BACKGROUND: The co-incidence of systemic lupus erythematosus (SLE) and tuberous sclerosis with pulmonary lymphangioleiomyomatosis (LAM) and renal angiomyolipoma (AML) is rare. In such patients, the rupture of renal AML may result in fatal circumstances, but this may be preventable. METHODS: A 22-year-old Asian woman with SLE was admitted to our hospital with severe left-flank pain. Imaging studies showed the bilateral rupture of multiple renal AMLs. RESULTS: The patient underwent emergency selective transcatheter embolization (TE) of the left renal artery. After TE and massive hydration, the patient complained of dyspnea and postembolization syndrome with fever. The chest computed tomography (CT) revealed pulmonary LAM, pulmonary edema with bilateral pleural effusions, and pneumonic consolidation. After the emergency procedure, the patient was treated with intravenous administration of antibiotics, diuretics, and nonsteroidal anti-inflammatory drugs for 10 days. The patient recovered favorably and was discharged 20 days after the treatment. She was diagnosed with renal AML and pulmonary LAM along with facial angiofibromas as well as tuberous sclerosis complex (TSC), although she had no TSC1 or TSC2 gene mutations. CONCLUSION: Although rare, SLE may coexist with TSC, along with LAM and AML, with a risk of AML rupture. The activation of the mTOR signaling pathway is shared between SLE and TSC. Thus, in patients with SLE, clinicians should consider imaging studies, such as kidney sonography and chest CT, to screen for possible manifestation of AML and LAM.

Construction of TSC2 knockout cell line using CRISPR/Cas9 system and demonstration of its effects on NIH-3T3 cells.

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder involving multiple organ systems. TSC2 gene plays an important role in the development of TSC. The most common kidney manifestation of TSC is renal angiomyolipoma (RAML). TSC-RAML is more likely to be bilateral multiple tumors and tends to destroy the renal structure and damages renal function severely. As a result, patients with TSC-RAML often miss the opportunity for surgical treatment when TSC-RAML is diagnosed, causing difficulty in obtaining tumor specimens through surgery. Due to this difficulty, model cell lines must be constructed for scientific research. In this paper, TSC2 was knocked out in NIH-3T3 cell lines by CRISPR/Cas9 system. PCR, WB and mTOR inhibitor drug sensitivity test showed that the TSC2 knockout NIH-3T3 cells were successfully constructed. The ability of proliferation and invasion in TSC2 KO NIH-3T3 cells were higher than those in wild type group. The constructed KO cell line lay the foundation for further study of TSC.