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DEN Open Apr 2025Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor. Some papers have reported that colonoscopy could be used to treat PEComa with a predominantly...
Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor. Some papers have reported that colonoscopy could be used to treat PEComa with a predominantly pedunculated polyp, whereas surgical intervention is often required for cases with submucosal-type tumors. These findings suggest that the morphology of PEComa changes dramatically with disease progression. Because of the rapid progression of PEComa, endoscopic treatment remains challenging, and early-stage PEComa morphology is not well understood. A 64-year-old man presented to our hospital for a follow-up colonoscopy after undergoing multiple polypectomies. He had a medical history of colorectal adenoma and prostate cancer. A 4-mm pale blue elevated but not pedunculated lesion was observed in the transverse colon, an area where he had not had polyps previously. Since no epithelial change was observed, the presence of a submucosal tumor, such as a gastrointestinal stromal tumor, was suspected. Cold snare polypectomy was performed, and the lesion was completely resected. Histological evaluation using hematoxylin and eosin staining identified that the submucosal tumor included thickened vascular walls and adipose tissue. Although fragmented due to significant degeneration, spindle-shaped cells staining positive for smooth muscle actin were observed within and surrounding the unstructured hyalinized tissue with calcifications. Based on these findings, the lesion was diagnosed as angiomyolipoma, a subtype of PEComa. Complete resection was confirmed by histopathology. To our knowledge, this PEComa is the smallest of any PEComa reported in the literature. Our finding provides valuable insights into the very early stage of colorectal PEComas.
PubMed: 38774472
DOI: 10.1002/deo2.390 -
Japanese Journal of Radiology Mar 2024This single-center, single-arm, prospective, open-label study was conducted to evaluate the optimal number of cores (single or multiple) in renal tumor biopsy.
PURPOSE
This single-center, single-arm, prospective, open-label study was conducted to evaluate the optimal number of cores (single or multiple) in renal tumor biopsy.
MATERIALS AND METHODS
Forty-four biopsies of 44 tumors (mean diameter, 2.7 ± 1.0 cm; range, 1.6-5.0 cm) were included. Biopsy was performed under ultrasound or computed tomography fluoroscopy guidance using an 18-gauge cutting needle and the co-axial method. Two or more specimens were obtained, which were divided into first and subsequent specimens. "First specimen" and "all specimens" were histologically evaluated (i.e., appropriateness of specimen, histological diagnosis, subtype, and Fuhrman grade of renal cell carcinoma [RCC]) blindly and independently by two board-certified pathologists.
RESULTS
Multiple specimens were successfully and safely obtained in all the biopsies. All tumors were histologically diagnosed; 40 malignancies included 39 RCCs and 1 solitary fibrous tumor, and 4 benign lesions included 2 angiomyolipomas, 1 oncocytoma, and 1 capillary hemangioma. In all RCCs, the subtype could be determined (32 clear cell RCCs, 4 chromophobe RCCs, and 3 papillary RCCs), and the Furman grade was determined in 38 RCCs. When only the first specimen was evaluated, 22.7% of the specimens were inappropriate for diagnosis, and 34 (77.3%) were histologically diagnosed. The diagnostic yield was significantly lower than that of all specimens (P = 0.0044). Univariate analysis revealed that smaller lesions were a significant predictor of diagnostic failure (P = 0.020).
CONCLUSION
Biopsy with multiple cores significantly improved diagnostic yield. Thus, operators should obtain multiple cores during renal tumor biopsy.
Topics: Humans; Adenoma, Oxyphilic; Biopsy; Carcinoma, Renal Cell; Kidney Neoplasms; Tomography, X-Ray Computed; Prospective Studies
PubMed: 37833443
DOI: 10.1007/s11604-023-01496-x -
BMC Urology May 2024Renal sinus angiomyolipoma (RSAML) is a rare and typically complex renal tumor. The objective is to present our single-center experience with a modified technique of...
BACKGROUND
Renal sinus angiomyolipoma (RSAML) is a rare and typically complex renal tumor. The objective is to present our single-center experience with a modified technique of robotic nephron-sparing surgery (NSS) for treating RSAML.
METHODS
We retrospectively evaluated 15 patients with RSAMLs who were treated with robotic NSS at the Department of Urology of Tongji hospital, ranging from November 2018 to September 2022. Renal vessels and ureter were dissected. The outer part of RSAML was resected. The rest of tumor was removed by bluntly grasp, curettage and suction. Absorbable gelatin sponges were filled in the renal sinus. The preoperative parameters, operative measures and postoperative outcomes were all collected. Follow-up was performed by ultrasonography and estimated glomerular filtration rate (eGFR).
RESULTS
Robotic NSS was successfully performed in all the patients, without any conversion to open surgery or nephrectomy. The mean operation time was 134.13 ± 40.56 min. The mean warm ischemia time was 25.73 ± 3.28 min. The median estimated blood loss was 100 [50, 270] ml and 1 patient required blood transfusion. The mean drainage duration was 5.77 ± 1.98 days. The median postoperative hospital stay was 6.90 [5.80, 8.70] days. Two patients experienced postoperative urinary tract infection (Clavien-Dindo Grade II). During the median follow-up of 25.53 ± 15.28 months, patients received 91.18% renal function preservation. No local recurrence occurred in all the patients.
CONCLUSIONS
Robotic NSS for RSAML is a complicated procedure that demands technical expertise and a well-designed strategy is critical in the operation. Treating RSAML with modified robotic NSS is safe, effective and feasible.
Topics: Humans; Robotic Surgical Procedures; Kidney Neoplasms; Female; Retrospective Studies; Adult; Male; Middle Aged; Organ Sparing Treatments; Angiomyolipoma; Nephrons; Nephrectomy
PubMed: 38715034
DOI: 10.1186/s12894-024-01492-x -
Cureus Oct 2023This case report pertains to a 70-year-old male patient with a medical history marked by atrial fibrillation, ankylosing spondylitis, and Crohn's disease. Eight years...
This case report pertains to a 70-year-old male patient with a medical history marked by atrial fibrillation, ankylosing spondylitis, and Crohn's disease. Eight years prior, the patient underwent a left radical nephrectomy due to the presence of a pigmented epithelioid angiomyolipoma (PEComa) in the kidney. Notably, pathological examination revealed an unusual subtype of PEComa characterized by Xp11 gene translocation, indicating a more aggressive clinical profile. Following a five-year observation period without recurrence, the patient was discharged. However, eight years after initial treatment, he presented with vague symptoms of left loin discomfort and fullness, which had persisted for several weeks. Subsequent evaluation via computed tomography (CT) scanning showed a small lesion at the site of the renal bed. Surgical resection confirmed the return of the identical tumour. Key clinical points elucidated by this case include the varied behaviour of PEComas, the essential need for prolonged surveillance, and a recognition that recurrences can transpire even after extended disease-free intervals. Prior studies suggest recurrence rates of up to 31.8% for this specific PEComa subtype, emphasising the requirement for prolonged follow-up protocols.
PubMed: 38021949
DOI: 10.7759/cureus.47305 -
Annals of Medicine and Surgery (2012) Oct 2023Tuberous sclerosis disorder (TSD) is a rare genetic disease that causes abnormal growths or tumors in various organs of the body. They are usually benign and...
INTRODUCTION AND IMPORTANCE
Tuberous sclerosis disorder (TSD) is a rare genetic disease that causes abnormal growths or tumors in various organs of the body. They are usually benign and asymptomatic. However, severe, rapidly growing tuberous sclerosis can be fatal. Renal angiomyolipomas are commonly associated with TSD, which can be further worsened by the presence of aneurysms and put the patient at risk for life-threatening hemorrhage.
CASE PRESENTATION
A 29-year-old female presented to the emergency room complaining of right flank pain with an unknown past medical history of tuberous sclerosis. The patient was suspected to have TSD as she fulfilled one of the major features of TSD required to establish a possible diagnosis. On computed tomography scan imaging, bilateral fat-density nodules were revealed in both kidneys. The largest is 7 cm in the left kidney, located at the upper pole, and was associated with a bleeding aneurysm measuring 4 cm in diameter. While the other fatty nodule was recorded at 6 cm in the right kidney at the lower pole.
CLINICAL DISCUSSION
After evaluation, the patient was planned for diagnostic catheterization of the left kidney, through which selective angiography of the left kidney was done, and eventually, selective embolization of the branch supplying the left angiomyolipoma was performed.
CONCLUSION
The authors finally conclude that thorough investigations, including systemic manifestations, must be taken into consideration when suspecting tuberous sclerosis, and a conservative approach must always be prioritized before taking any decision toward invasive approaches.
PubMed: 37811090
DOI: 10.1097/MS9.0000000000001157 -
International Journal of Medical... 2023Although regarded as a potentially efficient approach to address tuberous sclerosis complex (TSC)-associated complications, the adverse event profile of everolimus has...
Although regarded as a potentially efficient approach to address tuberous sclerosis complex (TSC)-associated complications, the adverse event profile of everolimus has not yet been fully elucidated. The present study aimed to clarify the adverse event spectrum in patients with TSC who are using everolimus for common indications, in comparison to those who do not use everolimus. We recruited patients with TSC who were followed up annually at TSC integrated clinics or referred for medical assistance. Medical reviews and laboratory investigations were performed at baseline and annually by clinical physicians. The adverse events were assessed as per the National Cancer Institute Common Terminology Criteria for Adverse Events. Common adverse events in everolimus users included hypercholesterolemia (55%), gingivostomatitis (50%), proteinuria (50%), and hyperglycemia (40%). Compared with everolimus nonusers, the occurrence of gingivostomatitis and proteinuria was significantly higher in everolimus users (gingivostomatitis, p=0.02; proteinuria, p=0.02). Among the everolimus users, 12 patients had level I CTCAE, and five had level II CTCAE. None of the everolimus users presented with CTCAE level III or higher. Patients with TSC who are everolimus users had a higher tendency to develop gingivostomatitis and proteinuria compared to nonusers. However, no differences were observed in the occurrence of other adverse events between everolimus users and nonusers.
Topics: Humans; Everolimus; Angiomyolipoma; Tuberous Sclerosis; Kidney Neoplasms; Astrocytoma; Proteinuria; Antineoplastic Agents
PubMed: 37786437
DOI: 10.7150/ijms.88022 -
Diagnostic Pathology Jan 2024Epithelioid angiomyolipoma (EAML) is a rare variant of angiomyolipoma that predominantly consists of epithelioid cells and belongs to the perivascular epithelioid cell...
BACKGROUND
Epithelioid angiomyolipoma (EAML) is a rare variant of angiomyolipoma that predominantly consists of epithelioid cells and belongs to the perivascular epithelioid cell neoplasm (PEComa) family. The majority of EAMLs arise in the kidneys, and primary hepatic EAML appears to be much less common than renal EAML. Most PEComas arise sporadically, but may be associated with tuberous sclerosis complex (TSC), an autosomal dominant genetic disorder characterized by germline mutations in the TSC1 or TSC2 genes. However, PEComas have previously been reported in five patients with Li-Fraumeni syndrome (LFS), which is an inherited cancer susceptibility disorder resulting from germline mutations in the TP53 tumor suppressor gene.
CASE PRESENTATION
We report a 49-year-old female patient with hepatic EAML and pancreatic cancer. Because she had previously been diagnosed with bilateral breast cancer at the age of 30, we performed a comprehensive genetic analysis to identify genetic alterations associated with any cancer predisposition syndrome. Whole-exome sequencing of a blood sample identified a heterozygous germline variant of TP53 (NM_000546.5):c.708C>A, and targeted next-generation sequencing of liver EAML and pancreatic cancer tissue samples demonstrated the same TP53 (NM_000546.5):c.708C>A variant in both. This, plus the patient's history of early-onset breast cancer, met the 2015 version of the Chompret criteria for diagnosis of LFS.
CONCLUSIONS
There have been very few case reports regarding the presence of PEComa in LFS, and to the best of our knowledge, this is the first report of EAML of the liver in a patient with LFS.
Topics: Female; Humans; Middle Aged; Li-Fraumeni Syndrome; Angiomyolipoma; Liver Neoplasms; Kidney Neoplasms; Genetic Predisposition to Disease; Breast Neoplasms; Pancreatic Neoplasms
PubMed: 38243242
DOI: 10.1186/s13000-023-01418-5 -
International Journal of Surgical... Feb 2024Renal epithelioid angiomyolipoma (EAML) (epithelioid PEComa of the kidney), is a rare subtype of renal angiomyolipoma with the potential for aggressive behavior and a...
Renal epithelioid angiomyolipoma (EAML) (epithelioid PEComa of the kidney), is a rare subtype of renal angiomyolipoma with the potential for aggressive behavior and a known diagnostically challenging entity. We present a renal EAML with unusual papillary architecture and tumor cells with abundant eosinophilic cytoplasm and cherry-red nucleoli with perinucleolar halos, strongly mimicking a fumarate hydratase (FH) deficient renal cell carcinoma (RCC). We herein report our findings and discuss the morphologic, immunohistochemical, and molecular pitfalls to consider in the differential of EAML, including with FH-deficient RCC and more recently described entities: -amplified RCC and other renal tumors with alterations in . Novel findings in this tumor include papillary morphology and a novel promoter rearrangement, which has not been previously reported in EAML.
Topics: Humans; Carcinoma, Renal Cell; Kidney Neoplasms; Angiomyolipoma; Biomarkers, Tumor; Kidney; Hamartoma
PubMed: 37160913
DOI: 10.1177/10668969231171942 -
Jornal Brasileiro de Nefrologia 2023
Topics: Humans; Tuberous Sclerosis; Angiomyolipoma; MTOR Inhibitors; Kidney Neoplasms; TOR Serine-Threonine Kinases
PubMed: 37497829
DOI: 10.1590/2175-8239-JBN-2023-0077en -
Asian Journal of Surgery Jan 2024Off-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,... (Randomized Controlled Trial)
Randomized Controlled Trial
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.
CONCLUSION
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.
Topics: Humans; Kidney Neoplasms; Angiomyolipoma; Kidney; Nephrectomy; Laparoscopy; Hamartoma; Retrospective Studies; Nephrons; Treatment Outcome; Carcinoma, Renal Cell
PubMed: 37640651
DOI: 10.1016/j.asjsur.2023.08.087