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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 -
International Journal of Surgery Case... Dec 2023Renal angiomyolipoma (AML) are benign tumors, often incidentally diagnosed with rupture being the commonest complication and cause of mortality. These tumors are rare...
INTRODUCTION AND IMPORTANCE
Renal angiomyolipoma (AML) are benign tumors, often incidentally diagnosed with rupture being the commonest complication and cause of mortality. These tumors are rare with a higher prevalence among patients with tuberous sclerosis and female predominance. Management is dependent on tumor size and whether or not the tumor has ruptured.
CASE PRESENTATION
32-year-old female presenting with sudden right flank pain with shock without history of prior trauma or surgeries. Underwent imaging revealing a suspected ruptured AML thus underwent emergent nephrectomy with admission to intensive care.
CLINICAL DISCUSSION
Wunderlich syndrome manifests as the Lenk triad, which includes acute flank pain, flank mass, and hypovolemic shock with signs of internal bleeding such as hematuria. It is a rare manifestation signifying spontaneous renal hemorrhage. Due to the instability of the patient had to undergo emergency laparotomy and nephrectomy.
CONCLUSION
Renal AML occur as a rare benign phenomenon which when ruptured are associated with high mortality rate if not treated promptly in a setting with specialized treatment and intensive unit care. We hope that through our experience patients presenting with Lenk's triad are identified early for adequate intervention.
PubMed: 38006740
DOI: 10.1016/j.ijscr.2023.109073 -
Ultrasound in Medicine & Biology Feb 2024The aim of the work described here was to explore the clinical value of contrast-enhanced ultrasound (CEUS) with the enhancement pattern and qualitative analysis in...
OBJECTIVE
The aim of the work described here was to explore the clinical value of contrast-enhanced ultrasound (CEUS) with the enhancement pattern and qualitative analysis in distinguishing different types of hypovascular solid renal lesions.
METHODS
A total of 140 patients with 140 renal tumors (all diagnosed by pathology), which manifested hypo-enhancement on CEUS, were included in this study. We compared conventional ultrasound (US) and CEUS features in five common hypovascular renal tumors, including renal angiomyolipoma (RAML), clear cell renal cell carcinoma (ccRCC), renal pelvic urothelial carcinoma (RPUC), papillary renal cell carcinoma (pRCC) and chromophobe renal cell carcinoma (chRCC). The diagnostic value of conventional US and qualitative parameters of CEUS for differentiating hypovascular solid renal lesions were evaluated.
RESULTS
The mean age of patients with a benign renal lesion was younger than that of patients with a malignant renal lesion (p < 0.05). Echogenicity and qualitative parameters such as wash-out, perfusion defects and perilesional rim-like enhancement (PRE) in the two groups differed significantly (all p values <0.05). Benign renal lesions exhibited mainly slow wash-out, whereas malignant renal lesions exhibited predominantly fast wash-out on CEUS (p < 0.05). There were significant differences in echogenicity, such as between RAML and ccRCC, between RAML and RPUC and between RAML and pRCC (all p values <0.05). The rates of appearance of perfusion defect in ccRCC (48%, 13/27) and pRCC (53%, 10/19) were significantly higher than the rate in RAML (14%, 6/43) (p < 0.05). The rates of appearance of PRE in ccRCC (15%, 4/27), pRCC (26%, 5/19) and chRCC (24%,4/17) were significantly higher than the rate in RAML (9%, 4/43) (p < 0.05).
CONCLUSION
CEUS with the enhancement pattern and qualitative analysis may be helpful in distinguishing malignant from benign hypovascular renal lesions.
Topics: Humans; Kidney Neoplasms; Carcinoma, Renal Cell; Angiomyolipoma; Carcinoma, Transitional Cell; Contrast Media; Diagnosis, Differential; Urinary Bladder Neoplasms; Ultrasonography; Retrospective Studies
PubMed: 37996360
DOI: 10.1016/j.ultrasmedbio.2023.11.002 -
International Journal of Surgery Case... Dec 2023Tuberous sclerosis complex (TSC) is an autosomal dominant disease that affects multiple organs. Medical therapy with the mTOR inhibitor everolimus has become the first...
INTRODUCTION
Tuberous sclerosis complex (TSC) is an autosomal dominant disease that affects multiple organs. Medical therapy with the mTOR inhibitor everolimus has become the first option in patients with angiomyolipomas. But mTOR inhibitor treatment shows no effect in some patients, in the case, surgery is a suitable method for treatment.
PRESENTATION OF CASE
A 30-year-old Chinese male patient received an ultrasound examination of the kidney, which showed bilateral hyperechogenic structures without stones or ureterohydronephrosis. A computed tomography (CT) scan of the kidneys showed multiple slightly high-density masses (largest size: left 6.5 cm, right 5.2 cm), and the masses lacking of lipids were obviously enhanced in the arterial phase. To clarify the components of the tumors, we performed retroperitoneal laparoscopic tumor enucleation to remove all visible masses in left kidney. The pathological results and genetic tests confirmed the diagnosis of TSC. For reducing the further spontaneously bleeding risk and the cost burden, the right renal tumors were also enucleated. Twelve months after the second operation, renal function remained normal, and no tumors were detected by CT.
DISCUSSION
Large angiomyolipomas (>4 cm in diameter) may develop life-threatening hemorrhage or compress normal kidney tissue. Fat-poor renal angiomyolipomas are difficult for making a differential diagnosis from renal cancer or renal sarcomatoid carcinoma. When medication treatment does not work, surgery is a good option to diagnose and treat big bilateral renal angiomyolipomas.
CONCLUSION
After 12 months of follow-up, retroperitoneal laparoscopic tumor enucleation may be a safe and effective method for treating big fat-poor renal angiomyolipomas in patients with TSC.
PubMed: 37979555
DOI: 10.1016/j.ijscr.2023.109060 -
World Journal of Clinical Cases Oct 2023Aggressive angiomyolipoma is an extremely rare benign mesenchymal tumor that was originally described as a locally recurrent mucinous spindle cell tumour. Aggressive...
BACKGROUND
Aggressive angiomyolipoma is an extremely rare benign mesenchymal tumor that was originally described as a locally recurrent mucinous spindle cell tumour. Aggressive angiomyolipoma originates from myofibroblasts, vascular smooth muscle cells, or fibroblasts, and displays various phenotypes of myofibroblasts and abnormal muscle arteries. Aggressive angiomyolipoma was first identified in 1983 and fewer than 50 male patients have been reported to date. It is an extremely rare mesenchymal tumour and often confused with other diseases. Patients with epididymal aggressive angiomyolipoma lack typical symptoms, most of which occur incidentally, although some patients may experience mild pain, discomfort, and swelling. Pain may be exacerbated by pressure from the mass.
CASE SUMMARY
A 66-year-old male was admitted to the hospital on January 14, 2022 with chief complaint of swelling in the left scrotum for one year. There was no apparent cause for the swelling. The patient did not consult with any doctor or receive any treatment for the swelling. The enlarged scrotum increased in size gradually until it reached approximately the size of a goose egg, and was accompanied by discomfort and swelling of the left cavity of the scrotum. The patient had no history of any testicular trauma, infection, or urinary tract infection. The patient urinated freely, 1-2 times at night, without urgency, dysuria (painful urination), or haematuria. There was no significant family history of malignancy. The patient underwent excision of the enlarged tumour and the left epididymis under general anaesthesia on January 18, 2022. Twelve months of follow-up revealed no recurrence. The patient was satisfied with the treatment.
CONCLUSION
Aggressive angiomyolipoma is extremely rare clinically and often confused with other diseases. The pathogenesis of aggressive angiomyolipoma is unclear and the clinical presentation is mostly a painless enlarged mass. The diagnosis of aggressive angiomyolipoma requires a combination of medical history, preoperative imaging such as computed tomography and magnetic resonance imaging, cytological examination and preoperative and postoperative pathological biopsy. The preferred treatment is surgery, with the possibility of a new alternative treatment option after hormonal therapy. Aggressive angiomyolipoma should be considered in the differential diagnosis of parametrial tumors of the male genital area that present as clinically significant masses. The high recurrence rate of aggressive angiomyolipoma may be related to incomplete tumor resection, and patients with aggressive angiomyolipoma are advised to undergo annual postoperative follow-up and imaging for recurrence.
PubMed: 37946787
DOI: 10.12998/wjcc.v11.i29.7214 -
Journal of Vascular and Interventional... Feb 2024A prospective, single-arm, open-label, multicenter, first-in-human, early feasibility study was completed to evaluate the safety and performance of the GPX Embolic... (Clinical Trial)
Clinical Trial
PURPOSE
A prospective, single-arm, open-label, multicenter, first-in-human, early feasibility study was completed to evaluate the safety and performance of the GPX Embolic Device (Fluidx, Salt Lake City, Utah), a novel liquid embolic agent, for use in the peripheral vasculature when deep distal embolization is desired.
MATERIALS AND METHODS
The early feasibility study evaluated the use of the device in the peripheral vasculature. Enrollment consisted of 17 patients with diverse embolization needs requiring deep distal vessel/vessel bed occlusion. Technical success, freedom from adverse events (AEs), and handling/performance characteristics were assessed with follow-up at 30 days.
RESULTS
The trial enrolled 17 patients requiring distal vascular penetration of the embolic agent, including 7 with renal angiomyolipomas, 4 with renal cell carcinomas (primary and secondary), 4 with portal veins needing embolization, 1 with pelvic sarcoma, and 1 with polycystic kidney. In all cases (100%), technical success was achieved with target regions fully occluded on the first angiogram (taken immediately after delivery). Furthermore, the material received high usability ratings, as measured by a postprocedural investigator questionnaire. Most patients (15/17, 88.2%) were free from device-related severe AEs, and there were no unanticipated AEs during the study. Each patient completed a 30-day follow-up evaluation, and sites remained fully occluded in each case where imaging was available (6 [35.3%] of 17 patients had follow-up imaging where all sites were deemed occluded [100%] with a mean of 30.2 days after the procedure).
CONCLUSIONS
The results of this first-in-human, early feasibility study demonstrate that the GPX Embolic Device may provide safe and effective embolization for arterial or venous applications where deep distal penetration is desired.
Topics: Humans; Embolism; Embolization, Therapeutic; Ionic Liquids; Prospective Studies; Treatment Outcome
PubMed: 37931844
DOI: 10.1016/j.jvir.2023.10.029 -
Frontiers in Oncology 2023The 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...
OBJECTIVE
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.
MATERIALS AND METHODS
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.
RESULTS
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.
CONCLUSION
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.
PubMed: 37920170
DOI: 10.3389/fonc.2023.1220380 -
Scandinavian Journal of Urology Oct 2023To evaluate the long-term efficacy of selective arterial embolisation in renal angiomyolipoma (AML), with emphasis on tumour shrinkage, potential regrowth and the...
OBJECTIVE
To evaluate the long-term efficacy of selective arterial embolisation in renal angiomyolipoma (AML), with emphasis on tumour shrinkage, potential regrowth and the necessity of supplementary procedures. Material and methods: A retrospective review of all 58 consecutive embolisations at two institutions, between 1999 and 2018, was performed. Clinical notes, laboratory data and imaging were reviewed.
RESULTS
The overall complication rate was 6.8%, with no Clavien-Dindo grades III-V complications. Kidney function was unaffected by embolisation as measured by creatinine. Median radiological follow-up was 4.8 years (interquartile range [IQR]: 2.8-7.8), and median clinical follow-up was 7.5 years (IQR: 4.7-14.0). Decreasing AML size was observed in 96% of procedures. Maximal shrinkage (30% median diameter decrease; IQR: 15-44) was reached after median 2.2 years (IQR: 0.6-4.8). During follow-up, regrowth occurred in 38% of patients, and four bleeding episodes occurred in three patients with tuberous sclerosis. Growing size and/or rebleeding prompted a redo embolisation in 9% of spontaneous AML and 50% of tuberous sclerosis-associated AML.
CONCLUSIONS
Being a well-tolerated treatment with few complications, selective arterial embolisation renders a pronounced size-reduction in most patients with AML, and kidney function is preserved. Regrowth is common, and a radiological follow-up is necessary. Tuberous sclerosis is a risk factor for the need of reintervention.
Topics: Humans; Angiomyolipoma; Tuberous Sclerosis; Kidney Neoplasms; Embolization, Therapeutic; Leukemia, Myeloid, Acute
PubMed: 37909895
DOI: 10.2340/sju.v58.12318 -
Medicine Oct 2023Angiomyolipoma is a mesenchymal tumor composed of blood vessels, smooth muscle, and mature adipose tissue. It is most commonly found in the kidney, and is rare outside...
RATIONALE
Angiomyolipoma is a mesenchymal tumor composed of blood vessels, smooth muscle, and mature adipose tissue. It is most commonly found in the kidney, and is rare outside the kidney, especially in the mediastinum. Only about 12 cases have been reported worldwide so far.
PATIENT CONCERNS
We report a young female patient who had been found with a left thoracic mass for 19 years. In the past 19 years, the patient had no chest pain, dyspnea and other symptoms, but this time she visited the doctor because of cough, and there were no other clinical signs.
DIAGNOSES
The patient underwent computed tomography plain scan and enhanced scan after admission with imaging manifestations of a mixed density mass in the left chest cavity, calcification and fat density in the inside, and tortuous blood vessels after enhancement. Combined with imaging, the diagnosis was teratoma, not excluding hamartoma.
INTERVENTIONS
The patient underwent a central open thoracic giant mass resection.
OUTCOMES
The postoperative pathology confirmed that it was angiomyolipoma originating from anterior mediastinum invasion of the left chest cavity, and no clear recurrence was seen after 1 year of postoperative follow-up.
LESSONS
Angiomyolipomas in the mediastinum are rare, especially those that invade the thorax. This article describes the clinical, imaging and pathological features of the patient in detail, which improves the understanding of the disease of clinical and imaging doctors, and provides a basis for the differential diagnosis of mediastinal lesions.
Topics: Humans; Female; Mediastinum; Angiomyolipoma; Mediastinal Neoplasms; Tomography, X-Ray Computed; Kidney Neoplasms; Hamartoma
PubMed: 37904415
DOI: 10.1097/MD.0000000000035786 -
Journal of Surgical Case Reports Oct 2023Perivascular epithelioid cell neoplasm (PEComa) is a rare type of tumor, and hepatic PEComa is even rarer. Its preoperative diagnosis is difficult, given the absence of...
Perivascular epithelioid cell neoplasm (PEComa) is a rare type of tumor, and hepatic PEComa is even rarer. Its preoperative diagnosis is difficult, given the absence of specific clinical manifestations, often constituting an accidental finding, and the lack of a gold standard for identification using imaging studies. Instead, the diagnosis of hepatic PEComa is based on morphological and immunohistochemical features. We describe a case of an asymptomatic hepatic PEComa, angiomyolipoma type, which appeared in a middle-aged woman with chronic liver disease, during her follow-up and screening. Given the patient's context, human immunodeficiency virus-positive with chronic hepatitis C, and the similarities between the two tumors, the hepatic lesion was interpreted as hepatocellular carcinoma. The patient underwent surgical excision of the tumor, and the positive immunohistochemical staining for human melanoma black 45 and Melan A made the definitive diagnosis. In the absence of aggressiveness tumor markers, surveillance was decided. We also provide a literature review of these tumors.
PubMed: 37846416
DOI: 10.1093/jscr/rjad556