BACKGROUND: Although renal angiomyolipomas (AMLs) are benign lesions, they can grow and cause serious complications. In this study, we aimed to determine the factors affecting the growth of renal AMLs.
METHODS: Patients followed up for AMLs between January 2014 and January 2024 were screened. By accepting 2.5 mm/year as the limit for a significant growth rate, the patients were divided into two groups: those with and without significant growth. Demographic characteristics, tumor characteristics, and laboratory parameters, platelet-to-lymphocyte ratio (PLR), neutrophil-to-lymphocyte ratio (NLR), and aspartate aminotransferase-to-alanine aminotransferase (De Ritis) ratio, were compared between the groups.
RESULTS: The study included a total of 98 patients. Of the entire cohort, 78.6% were women. Significant growth was detected in nine (9.2%) patients. Multivariate analysis revealed that the baseline scan tumor size, PLR, and De Ritis ratio were significant independent predictors of significant AML growth (p = 0.011, p = 0.017, and p = 0.030, respectively). In the receiver operating characteristic curve analysis, the cut-off value of PLR in predicting significant growth was 131.85 (sensitivity: 77.8%, specificity: 73%, area under the curve [AUC] 0754), while the cut-off value of the De Ritis ratio was 1.33 (sensitivity: 66.7%, specificity: 95.8%, AUC 0.721).
CONCLUSIONS: Tumor size at the time of initial diagnosis, as well as PLR and De Ritis ratio, were found to be independent predictors of AML growth rate. The use of these factors in patient follow-up has the potential to assist clinicians in predicting tumor growth and related complications.

Lymphangioleiomyomatosis is a rare cystic lung disease primarily affecting premenopausal females and may be exacerbated by pregnancy. We conducted a literature review of lymphangioleiomyomatosis during pregnancy with a specific focus on related maternal morbidity and obstetrical outcomes. We also report a case of lymphangioleiomyomatosis that presented as an acute spontaneous pneumothorax in the third trimester of pregnancy, followed by significant maternal morbidity. A 37-year-old primigravid woman who presented at 29 weeks 5 days gestation with chest pain was diagnosed with spontaneous pneumothorax. Further imaging demonstrated cystic lung lesions and renal angiomyolipomas. She developed severe abdominal pain concerning for placental abruption that led to an urgent cesarean delivery at 30 weeks 2 days gestation. Her course was complicated by recurrent pneumothorax, superimposed preeclampsia, and significant ileus and bowel dilation complicated by bowel perforation. For patients with a clinical suspicion of lymphangioleiomyomatosis in pregnancy, prompt recognition, diagnosis, and referral to appropriate multidisciplinary subspecialists is critical to mitigate complications and optimize outcomes both during and after pregnancy.

BACKGROUND: Off-clamp nephron-sparing surgery (NSS) have been selectively performed in renal tumors in which the majority are T1a (<4 cm) renal caners. Less is known, however, whether off-clamp is a safe and effective option for treatment of Sporadic Renal Angiomyolipomas (RAML), especially in those >4 cm. The objective of our study was to compare the perioperative and renal function outcomes of a novel off-clamp tumor evacuation technique versus conventional laparoscopic NSS for the treatment of large sporadic RAMLs (>4 cm).
METHODS: From January 2021 to June 2022, 42 patients diagnosed with RAML were prospectively randomized to receive laparoscopic standard NSS (Group 1) and off-clamp tumor evacuation (Group 2). The surgical and postoperative outcomes of both groups were compared.
RESULTS: Baseline characteristics demonstrated no discernible variation between Group 1 and Group 2. Compared to Group 1, Group 2 was associated shorter operative time (92.5 vs 82.3 min, p < 0.001), elimination of warm ischemic time (22.9 vs 0 min, p < 0.001), more blood loss (92.6 vs 161.9 ml, p = 0.02), and lower short-term renal function reduction of the operated kidney (17.2% vs 9%; p < 0.001). Neither major complication nor recurrence occurred.
CONCLUSIONS: It seems that transperitoneal laparoscopic off-clamp tumor evacuation is a feasible and safe option for the treatment of RAML, with the added benefit of preserving renal function to a greater extent than the traditional methods.

OBJECTIVE: 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.
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.
CONCLUSIONS: 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.

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.
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.
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.

Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) play a role and result in hamartomas involving many organs, like the brain, heart, kidneys, skin, lungs, and liver. This case report is about a four-year-old boy with facial angiofibromas, hypo-pigmented skin lesions on the lower back and dorsum of the right wrist, and previous history of seizures who was referred to the radiology department of the Korle Bu Teaching Hospital for Magnetic Resonance Imaging (MRI) of the brain. The MRI of the brain revealed subependymal giant cell astrocytomas, subependymal nodules, and cortical tubers. Ultrasonography of the abdomen also showed multiple angiomyolipomas and multiple simple cysts in both kidneys. The aim of this case report is to present the imaging findings and create awareness that this rare genetic disorder does exist in Ghana and advocate for formation of support groups for parents with children with tuberous sclerosis.

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors in multiple organs, including non-cancerous kidney lesions known as renal angiomyolipomas. This study\'s objective is to describe the age-stratified morbidity, treatment patterns, and health-related quality of life of TSC patients with renal angiomyolipomas in the United States. A cross-sectional, anonymous web-based survey was conducted with a convenience sample of TSC patients and caregivers identified through a patient advocacy organization.
RESULTS: Out of the total sample of 676, 182 respondents reported having kidney complications with 33% of the pediatric group and 25% of the adult group with TSC reporting them. Of those with kidney complications, 110 (60%) reported a diagnosis of renal angiomyolipomas, of which 79 (72%) were adult patients and 31 (28%) were pediatric age patients. Eighty-four percent of the pediatric group and 76% of the adult group reported lesions on both kidneys. Of the patients experiencing involvement of only one kidney, 60% of the pediatric group and 21% of the adult group reported having multiple tumors within the affected kidney. Almost all of the sample (99%) reported seeing a physician and having a procedure or test for TSC in the past year. Less than half the respondents (44%) reported being hospitalized in the past year. Thirty-nine percent reported an emergency room visit as well. Compared to scores for patients with kidney disease, the angiomyolipoma adult patients reported significantly lower Mental Component Summary scores on the SF-12.
CONCLUSIONS: Renal angiomyolipomas burden leads to frequent healthcare resource use including hospitalization, invasive treatments, and surgical procedures, which result in an impaired mental health related quality of life.

A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the age of 3 years. Whole-genome sequencing was performed on genomic maternal DNA isolated from blood. A targeted de novo assembly was then conducted with ABySS for chromosomes 11 and 12. Sanger sequencing was used to validate the translocation breakpoints. As a result, genomic characterization of chromosomes 11 and 12 revealed that the 11p breakpoint disrupted the NUP98 gene in intron 1, causing a separation of the promoter and transcription start site from the rest of the gene. The translocation breakpoint on chromosome 12q was located in a gene desert. NUP98 has not yet been associated with renal AML pathogenesis, but somatic NUP98 alterations are recurrently implicated in hematological malignancies, most often following a gene fusion event. We also found evidence for complex structural events involving chromosome 12, which appear to disrupt the TDG gene. We identified a TDGP1 partially processed pseudogene at 12p12.1, which adds complexity to the de novo assembly. In conclusion, this is the first report of a germline constitutional structural chromosome rearrangement disrupting NUP98 that occurred in a generally healthy woman with bilateral renal AML.

Tuberous sclerosis complex frequently results in the formation of renal angiomyolipomas (AMLs). Sirolimus (SIR) or everolimus can be used to treat large AMLs, although this treatment has rarely been described in children, particularly for multiple renal AMLs. A 15-year-old girl presented with bilateral severe chronic flank pain coinciding with increased renal size and hundreds of renal AMLs. We opted to treat her with SIR over the course of 3.5 years. Following her treatment, her renal size had substantially decreased and the AMLs had shrunk. The patient\'s pain subsided as well. Our case, which has never been described in published literature, demonstrates that a child with multiple renal AMLs can be treated with SIR, and suggests that this treatment may be a viable option for preventing the development of secondary morbidities such as chronic pain.

OBJECTIVE: This study aims to investigate the clinical value of laparoscopic enucleation combined with selective arterial embolization for the treatment of renal angiomyolipoma.
METHODS: Data of patients who underwent laparoscopic nephron-sparing surgery for renal angiomyolipoma between July 2013 and November 2014 in our center were analyzed.
RESULTS: Before surgery, 19 patients underwent selective arterial embolization, while 24 patients did not receive this treatment. Intraoperative blood loss was 46.4 ± 20.6 ml in the embolization group and 89.5 ± 30.4 ml in the non-embolization group (P= 0.000). Operation time was 90.3 ± 21.1 minutes in the embolization group and 131.7 ± 18.6 minutes in the non-embolization group (P= 0.000). Warm ischemia time was 9.5 ± 5.7 minutes in the embolization group and 24.2 ± 4.8 minutes in the non-embolization group (P= 0.001). Hospitalization time was 7.7 ± 1.1 days in the embolization group and 6.3 ± 1.3 days in the non-embolization group (P= 0.000). No serious complications occurred in patients in the embolization group, while one patient developed urinary leakage and another patient had angiomyolipoma in the operation area in the non-embolization group. Three months after the operation, serum creatinine level was 70.1 ± 13.7 μ mol/L in the embolization group and 84.2 ± 9.1 μ mol/L in the non-embolization group (P= 0.000). No tumor recurrence occurred in patients in both groups.
CONCLUSIONS: Compared with laparoscopic partial nephrectomy alone, tumor enucleation combined with selective arterial embolization can reduce blood loss and shorten warm ischemia time.