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Case Reports in Neurological Medicine 2024Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous...
Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes. Ocular signs are fairly common and include an achromic patch and retinal astrocytic hamartomas, which usually have a maximum size of between 0.5 and 5 mm. The incidence of tuberous sclerosis is estimated to be 1 in 5000-10,000 individuals, with both familial and sporadic cases reported. The diagnostic criteria for tuberous sclerosis include the presence of major and/or minor clinical features as well as genetic mutations. We present the case of a 15-year-old girl, presented with a history of seizures and blurred vision. Physical examination revealed angiofibroma on the face. Further evaluation, including contrast-enhanced MRI of the brain and ophthalmological consultation, led to the diagnosis of tuberous sclerosis. Additional imaging studies confirmed the presence of subependymal giant cell astrocytoma, retinal astrocytoma, lymphangioleiomyomatosis in the lungs, and renal angiomyolipoma. This case highlights the importance of considering tuberous sclerosis in patients presenting with seizures and ocular symptoms. This case sheds light on early diagnosis and appropriate management which are crucial in preventing complications and improving patient outcomes.
PubMed: 38694182
DOI: 10.1155/2024/5559615 -
International Journal of Surgical... Apr 2024Myopericytoma, a perivascular myoid neoplasm, is commonly found in the dermis or subcutaneous tissues; however, its occurrence in visceral organs is unusual. Here, we...
Myopericytoma, a perivascular myoid neoplasm, is commonly found in the dermis or subcutaneous tissues; however, its occurrence in visceral organs is unusual. Here, we present an extremely rare tumor of intravascular myopericytoma of the right renal vein. A 44-year-old man was incidentally diagnosed with a mass in the right kidney during a routine checkup. A nephrectomy was performed because the urologist suspected renal cancer. A gross examination of the resected specimen revealed a well-circumscribed brown mass in the renal hilum. Histologically, the tumor showed a concentric multilayered proliferation of spindle cells surrounding blood vessels. Immunohistochemical staining showed that the spindle-shaped tumor cells were negative for desmin but positive for α-smooth muscle actin and h-caldesmon, indicating their myoid nature. We confirmed that the tumor was located in the right renal vein because it was encased within a thick wall that was desmin-positive and contained elastic fibers, as shown by Elastica van Gieson staining. The patient was diagnosed with an intravascular myopericytoma of the right renal vein. There are several differential diagnoses for renal mesenchymal tumors, including angiomyolipoma. This emphasizes the importance of considering these uncommon tumors when examining nephrectomy specimens.
PubMed: 38689469
DOI: 10.1177/10668969241246490 -
World Journal of Gastroenterology Apr 2024Accurate preoperative diagnosis is highly important for the treatment of perivascular epithelioid cell tumors (PEComas) because PEComas are mainly benign tumors and may... (Review)
Review
Accurate preoperative diagnosis is highly important for the treatment of perivascular epithelioid cell tumors (PEComas) because PEComas are mainly benign tumors and may not require surgical intervention. By analyzing the causes, properties and clinical manifestations of PEComas, we summarize the challenges and solutions in the diagnosis of PEComas.
Topics: Humans; Perivascular Epithelioid Cell Neoplasms; Liver Neoplasms; Hepatectomy; Preoperative Care; Biomarkers, Tumor; Diagnosis, Differential; Liver
PubMed: 38659487
DOI: 10.3748/wjg.v30.i13.1926 -
The American Journal of Case Reports Apr 2024BACKGROUND Wünderlich syndrome (WS) is a rare diagnosis of nontraumatic spontaneous renal hemorrhage into the subcapsular, perirenal, or pararenal spaces. Prompt and...
BACKGROUND Wünderlich syndrome (WS) is a rare diagnosis of nontraumatic spontaneous renal hemorrhage into the subcapsular, perirenal, or pararenal spaces. Prompt and effective intervention is necessary for an accurate pathological diagnosis and preservation of life. In the current literature, open surgery is the primary option when conservative treatment fails, but there can be serious trauma and corresponding consequences. Herein, we present 3 cases of Wünderlich syndrome managed by robot-assisted laparoscopic nephrectomy via a retroperitoneal approach. CASE REPORT Patient 1 was a 44-year-old woman with right flank pain for 6 h. Patient 2 was a 53-year-old woman with a history of diabetes who had pain in her right flank pain and nausea for 1 day. Patient 3 was a 45-year-old man with left flank pain for 1 day. All cases of WS were confirmed by CT. All 3 patients were treated with retroperitoneal robot-assisted nephrectomy after conservative treatment failed. Pathological examination confirmed that patient 1 had angiomyolipoma, and patients 2 and 3 had renal clear cell carcinoma. At the 9-month follow-up, renal function was good and no evidence of recurrence or metastasis has been detected. CONCLUSIONS These cases have highlighted the importance of the clinical history and imaging findings in the diagnosis of Wünderlich syndrome, and show that rapid management can be achieved using robot-assisted laparoscopic nephrectomy. However, it is crucial to have a skilled surgical team and adequate preoperative preparation.
Topics: Humans; Nephrectomy; Middle Aged; Robotic Surgical Procedures; Male; Laparoscopy; Female; Adult; Syndrome; Kidney Diseases; Hemorrhage; Kidney Neoplasms; Angiomyolipoma; Carcinoma, Renal Cell
PubMed: 38659203
DOI: 10.12659/AJCR.942826 -
Current Medical Imaging Apr 2024This study is to investigate the effectiveness of Acoustic Radiation Force Impulse (ARFI) elastography in differentiating radiologically similar renal cell carcinoma...
PURPOSE
This study is to investigate the effectiveness of Acoustic Radiation Force Impulse (ARFI) elastography in differentiating radiologically similar renal cell carcinoma (RCC) and oncocytoma in solid masses of the kidney.
METHODS
The patients with solid renal mass histopathological diagnosed after excision or tru-cat biopsy who underwent a preoperative ARFI elastography of the lesion during a 4-year period were included in this study. Preoperative shear wave velocity (SWV) values were measured in all the lesions. SWV results of RCCs and oncocytomas were compared by an independent t-test, and cut-off, sensitivity and specificity values were calculated.
RESULTS
Forty-two of the 60 patients included in the study were men (70%) and, 18 were women (30%), and the mean age was 59.7 ± 14 (27-94) years. Among 46 RCCs (76.6%), 23 and 14 oncocytomas, 5 (23.4%) were located in the right kidney (p:0.34722). Mean SWV values were found to be significantly higher in RCCs (2.87± 0.74 (0.96-4.14) m/s) than oncocytomas (1.83 ± 0.78 (0.80-3.76) m/s) (p <0.001). In the ROC analysis, a cutoff value of 2.29 m/s was found to havean 80.4% sensitivity and a 78.6% specificity for the discrimination of RCCs from oncocytomas.
CONCLUSION
ARFI elastography measurements may be useful in distinguishing RCC and oncocytomas that may have similar solid radiological imaging features.
PubMed: 38639285
DOI: 10.2174/0115734056263924240126061957 -
HPB : the Official Journal of the... Jul 2024
Topics: Humans; Angiomyolipoma; Liver Neoplasms; Hepatectomy; Treatment Outcome; Female; Middle Aged
PubMed: 38637198
DOI: 10.1016/j.hpb.2024.04.001 -
European Radiology Apr 2024To distinguish histological subtypes of renal tumors using radiomic features and machine learning (ML) based on multiphase computed tomography (CT).
OBJECTIVES
To distinguish histological subtypes of renal tumors using radiomic features and machine learning (ML) based on multiphase computed tomography (CT).
MATERIAL AND METHODS
Patients who underwent surgical treatment for renal tumors at two tertiary centers from 2012 to 2022 were included retrospectively. Preoperative arterial (corticomedullary) and venous (nephrogenic) phase CT scans from these centers, as well as from external imaging facilities, were manually segmented, and standardized radiomic features were extracted. Following preprocessing and addressing the class imbalance, a ML algorithm based on extreme gradient boosting trees (XGB) was employed to predict renal tumor subtypes using 10-fold cross-validation. The evaluation was conducted using the multiclass area under the receiver operating characteristic curve (AUC). Algorithms were trained on data from one center and independently tested on data from the other center.
RESULTS
The training cohort comprised n = 297 patients (64.3% clear cell renal cell cancer [RCC], 13.5% papillary renal cell carcinoma (pRCC), 7.4% chromophobe RCC, 9.4% oncocytomas, and 5.4% angiomyolipomas (AML)), and the testing cohort n = 121 patients (56.2%/16.5%/3.3%/21.5%/2.5%). The XGB algorithm demonstrated a diagnostic performance of AUC = 0.81/0.64/0.8 for venous/arterial/combined contrast phase CT in the training cohort, and AUC = 0.75/0.67/0.75 in the independent testing cohort. In pairwise comparisons, the lowest diagnostic accuracy was evident for the identification of oncocytomas (AUC = 0.57-0.69), and the highest for the identification of AMLs (AUC = 0.9-0.94) CONCLUSION: Radiomic feature analyses can distinguish renal tumor subtypes on routinely acquired CTs, with oncocytomas being the hardest subtype to identify.
CLINICAL RELEVANCE STATEMENT
Radiomic feature analyses yield robust results for renal tumor assessment on routine CTs. Although radiologists routinely rely on arterial phase CT for renal tumor assessment and operative planning, radiomic features derived from arterial phase did not improve the accuracy of renal tumor subtype identification in our cohort.
PubMed: 38634876
DOI: 10.1007/s00330-024-10731-6 -
International Journal of Urology :... Apr 2024To validate the diagnostic accuracy of a stepwise algorithm to differentiate fat-poor angiomyolipoma (fp-AML) from renal cancer in small renal masses (SRMs).
Stepwise algorithm using computed tomography and magnetic resonance imaging for differential diagnosis of fat-poor angiomyolipoma in small renal masses: A prospective validation study.
OBJECTIVES
To validate the diagnostic accuracy of a stepwise algorithm to differentiate fat-poor angiomyolipoma (fp-AML) from renal cancer in small renal masses (SRMs).
METHODS
We prospectively enrolled 223 patients with solid renal masses <4 cm and no visible fat on unenhanced computed tomography (CT). Patients were assessed using an algorithm that utilized the dynamic CT and MRI findings in a stepwise manner. The diagnostic accuracy of the algorithm was evaluated in patients whose histology was confirmed through surgery or biopsy. The clinical course of the patients was further analyzed.
RESULTS
The algorithm classified 151 (68%)/42 (19%)/30 (13%) patients into low/intermediate/high AML probability groups, respectively. Pathological diagnosis was made for 183 patients, including 10 (5.5%) with fp-AML. Of these, 135 (74%)/36 (20%)/12 (6.6%) were classified into the low/intermediate/high AML probability groups, and each group included 1 (0.7%)/3 (8.3%)/6 (50%) fp-AMLs, respectively, leading to the area under the curve for predicting AML of 0.889. Surgery was commonly opted in the low and intermediate AML probability groups (84% and 64%, respectively) for initial management, while surveillance was selected in the high AML probability group (63%). During the 56-month follow-up, 36 (82%) of 44 patients initially surveyed, including 13 of 18 (72%), 6 of 7 (86%), and 17 of 19 (89%) in the low/intermediate/high AML probability groups, respectively, continued surveillance without any progression.
CONCLUSIONS
This study confirmed the high diagnostic accuracy for differentiating fp-AMLs. These findings may help in the management of patients with SRMs.
PubMed: 38632863
DOI: 10.1111/iju.15464 -
Diagnostic Pathology Apr 2024PEComa is a mesenchymal tumor that can occur in various organs including the uterus and soft tissues. PEComas are composed of perivascular epithelioid cells, and...
BACKGROUND
PEComa is a mesenchymal tumor that can occur in various organs including the uterus and soft tissues. PEComas are composed of perivascular epithelioid cells, and angiomyolipoma (AML), clear cell sugar tumor (CCST), and lymphangiomyomatosis (LAM) are considered lesions of the same lineage as tumors of the PEComa family. Histologically, a common PEComa shows solid or sheet-like proliferation of epithelioid cells. This is accompanied by an increase in the number of dilated blood vessels. Here, we report a case of pancreatic PEComa with marked inflammatory cell infiltration.
CASE PRESENTATION
A 74-year-old male patient underwent an appendectomy for acute appendicitis. Postoperative computed tomography and magnetic resonance imaging revealed a 30 × 25 mm non-contrast-enhanced circular lesion in the tail of the pancreas. The imaging findings were consistent with a malignant tumor, and distal pancreatectomy was performed. Histologically, most area of the lesion was infiltrated with inflammatory cells. A few epithelioid cells with large, round nuclei, distinct nucleoli, and eosinophilic granular cytoplasm were observed. Spindle-shaped tumor cells were observed. Delicate and dilated blood vessels were observed around the tumor cells. Immunohistochemically, the atypical cells were positive for αSMA, Melan A, HMB-45, and TFE3. The cytological characteristics of the tumor cells and the results of immunohistochemical staining led to a diagnosis of pancreatic PEComa.
CONCLUSIONS
A histological variant known as the inflammatory subtype has been defined for hepatic AML. A small number of tumor cells present with marked inflammatory cell infiltration, accounting for more than half of the lesions, and an inflammatory myofibroblastic tumor-like appearance. To our knowledge, this is the first report of pancreatic PEComa with severe inflammation. PEComa is also a generic term for tumors derived from perivascular epithelioid cells, such as AML, CCST, and LAM. Thus, this case is considered an inflammatory subtype of PEComa. It has a distinctive morphology that is not typical of PEComa. This histological phenotype should be widely recognized.
Topics: Male; Female; Humans; Aged; Biomarkers, Tumor; Immunohistochemistry; Perivascular Epithelioid Cell Neoplasms; Kidney Neoplasms; Pancreas; Leukemia, Myeloid, Acute
PubMed: 38622713
DOI: 10.1186/s13000-024-01485-2