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Asian Journal of Surgery May 2024
Topics: Female; Humans; Kidney Neoplasms; Nephrectomy; Perivascular Epithelioid Cell Neoplasms; Tomography, X-Ray Computed; Adult
PubMed: 38278727
DOI: 10.1016/j.asjsur.2024.01.111 -
Research and Reports in Urology 2023Epithelioid angiomyolipoma (EAML) is a rare variant of AML with malignant potential. It is occasionally difficult to distinguish EAML from renal cell carcinoma (RCC) on...
Epithelioid angiomyolipoma (EAML) is a rare variant of AML with malignant potential. It is occasionally difficult to distinguish EAML from renal cell carcinoma (RCC) on imaging. A 72-year-old woman was admitted to our hospital for the treatment of a left renal tumor with relatively high blood flow and a tumor thrombus extending to the inferior vena cava, suggesting RCC. The patient underwent presurgical combination therapy with axitinib and pembrolizumab. This treatment significantly shortened the thrombus, and radical nephrectomy was performed. The pathological findings were compatible with EAML, and the treatment effects were observed. We report a case treated pre-surgically with a combined therapy of pembrolizumab and axitinib, with a favorable response as a treatment option for EAML.
PubMed: 37818232
DOI: 10.2147/RRU.S425887 -
Archives of Pathology & Laboratory... Mar 2024Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors of uncertain histogenesis expressing smooth muscle and melanocytic markers. The...
CONTEXT.—
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors of uncertain histogenesis expressing smooth muscle and melanocytic markers. The clinicopathologic spectrum in young patients is not well documented.
OBJECTIVE.—
To describe a multi-institutional series of PEComas in children, adolescents, and young adults.
DESIGN.—
PEComas, not otherwise specified (NOS); angiomyolipomas (AMLs); lymphangioleiomyomatosis; and clear cell sugar tumors were retrospectively identified from 6 institutions and authors' files.
RESULTS.—
Seventy PEComas in 64 patients (median age, 15 years) were identified. They were more common in females (45 of 64 patients), occurring predominately in kidney (53 of 70), followed by liver (6 of 70). Thirty-four patients had confirmed tuberous sclerosis complex (TSC), 3 suspected TSC mosaicism, 2 Li-Fraumeni syndrome (LFS) and 1 neurofibromatosis type 1. Most common variants were classic (49 of 70) and epithelioid (8 of 70) AML. Among patients with AMLs, most (34 of 47) had TSC, and more TSC patients had multiple AMLs (15 of 36) than non-TSC patients (2 of 13). Two TSC patients developed malignant transformation of classic AMLs: 1 angiosarcomatous and 1 malignant epithelioid. Lymphangioleiomyomatosis (5 of 70) occurred in females only, usually in the TSC context (4 of 5). PEComas-NOS (6 of 70) occurred exclusively in non-TSC patients, 2 of whom had LFS (2 of 6). Three were malignant, 1 had uncertain malignant potential, and 2 were benign. All 4 PEComas-NOS in non-LFS patients had TFE3 rearrangements.
CONCLUSIONS.—
Compared to the general population, TSC was more prevalent in our cohort; PEComas-NOS showed more frequent TFE3 rearrangements and possible association with LFS. This series expands the spectrum of PEComas in young patients and demonstrates molecular features and germline contexts that set them apart from older patients.
PubMed: 38547914
DOI: 10.5858/arpa.2023-0552-OA -
AJOG Global Reports Feb 2024Lymphangioleiomyomatosis is a rare cystic lung disease primarily affecting premenopausal females and may be exacerbated by pregnancy. We conducted a literature review of...
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.
PubMed: 38327672
DOI: 10.1016/j.xagr.2024.100309 -
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 -
Diagnostic Pathology Feb 2024Fat-forming solitary fibrous tumor is a rare and specific subtype of solitary fibrous tumor. In this case, a mass of 8.3 cm in diameter was found in a 59-year-old male...
Fat-forming solitary fibrous tumor is a rare and specific subtype of solitary fibrous tumor. In this case, a mass of 8.3 cm in diameter was found in a 59-year-old male patient's right retroperitoneum, as revealed by abdominal contrast-enhanced computed tomography (CT) images. The tumor exhibited a well-circumscribed nature and histological features characterized by a combination of hemangiopericytomatous vasculature and mature adipose tissue, comprising around 70% of the total tumor composition. Immunohistochemistry staining revealed diffuse positive expression of STAT6 and CD34 in the tumor cells. Based on these findings, the final diagnosis was determined to be a fat-forming solitary fibrous tumor located in the retroperitoneum. It is important to consider other potential differential diagnoses, including angiomyolipoma, dedifferentiated liposarcoma, spindle cell lipoma, and atypical lipomatous tumor/well-differentiated liposarcoma.
Topics: Humans; Male; Middle Aged; Adipose Tissue; Lipoma; Liposarcoma; Solitary Fibrous Tumors; Tomography, X-Ray Computed
PubMed: 38388450
DOI: 10.1186/s13000-024-01463-8 -
IJU Case Reports Mar 2024There have been reports of surgery for residual ureteral tumors, most of them involved open surgeries. Herein, we report a case of retroperitoneal scopic left ureteral...
INTRODUCTION
There have been reports of surgery for residual ureteral tumors, most of them involved open surgeries. Herein, we report a case of retroperitoneal scopic left ureteral resection and partial cystectomy, performed by placing a fluorescent ureteral catheter in the residual ureter.
CASE PRESENTATION
A 79-year-old man was admitted to our hospital with a chief complaint of gross hematuria. He had undergone transperitoneal left radical nephrectomy due to angiomyolipoma 20 years ago. Computed tomography and Magnetic resonance imaging revealed a solid tumor in the left residual ureter. Retroperitoneal scopic residual ureterectomy has been performed. During the operation, a fluorescent ureteral catheter proved to be very helpful in detecting the ureter.
CONCLUSION
A fluorescent ureteral catheter is considered to be a useful tool in laparoscopic surgery, especially in cases where identification of the ureter is expected to be difficult, such as the residual ureter in this case.
PubMed: 38440714
DOI: 10.1002/iju5.12680 -
Urology Case Reports Sep 2023Sporadic Renal Angiomyolipoma (AML) is commonly managed through transcatheter arterial embolization (TAE) or surgical intervention. In this report, we present a...
Sporadic Renal Angiomyolipoma (AML) is commonly managed through transcatheter arterial embolization (TAE) or surgical intervention. In this report, we present a remarkable case of tumor regression from Novick Classification level 2 to level 1 in a 54-year-old male with sporadic renal AML and inferior vena cava (IVC) involvement, treated with the administration of everolimus. Subsequently, laparoscopic nephrectomy without cavectomy was performed. Notably, the patient did not present with tuberous sclerosis complex (TSC). Our findings highlight the potential of everolimus in the treatment of sporadic AML, even in cases unrelated to TSC, offering a viable alternative to invasive therapeutic approaches.
PubMed: 37636240
DOI: 10.1016/j.eucr.2023.102520 -
Cureus Mar 2024Wunderlich syndrome (WS) is characterized by spontaneous renal or perinephric hemorrhage in the absence of known trauma. WS is much rarer than haemorrhage caused by...
Wunderlich syndrome (WS) is characterized by spontaneous renal or perinephric hemorrhage in the absence of known trauma. WS is much rarer than haemorrhage caused by iatrogenic or traumatic conditions. The classic WS presentation of Lenk's triad of acute onset flank pain, flank mass, and hypovolemic shock is seen in less than a quarter of patients. The majority of patients present with only isolated flank pain and are frequently imaged in the emergency department with an unenhanced computed tomography (CT). The underlying aetiology varies, with the majority of cases attributed to neoplasms, vascular disease, cystic renal disease, and anticoagulation. We hereby present a case of an 80-year-old female who presented with severe discomfort in her left flank for three days in the absence of trauma. The patient was brought in a state of hypovolemic shock. After a thorough evaluation, a diagnosis of WS secondary to angiomyolipoma was made, for which selective angioembolization of the left renal artery was performed. However, due to further deterioration, a left nephrectomy had to be performed. The patient had an uneventful recovery and showed no deterioration on follow-up. The treatment modalities are vivid depending on the hemodynamic status of the patient, ranging from conservative management to operative intervention, and should be tailored to the vital state on admission.
PubMed: 38618421
DOI: 10.7759/cureus.56126 -
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