Tuberous sclerosis complex (TSC) is a rare, autosomal dominant multisystem disorder affecting the brain, heart, kidneys, lungs, and skin leading to significant morbidity and mortality. We report a case of TSC and highlight the need for prompt diagnosis and proper surveillance to minimize life‑threatening complications. A 20‑year‑old female presented with facial and ungual papulonodular lesions 4 years after being diagnosed with epilepsy at the age of eight. No family history of genetic diseases was reported. Eight years later, the patient developed recurrent cough, shortness of breath, and blurring of vision. Biopsy of facial and digital nodule showed angiofibroma and ungual fibroma (Koenen tumor), respectively. Chest computed tomography scan revealed extensive cystic lesions diffusely scattered throughout the entire lung parenchyma suggestive of lymphangioleiomyomatosis. Cranial MRI revealed cortical and subependymal tubers, compatible with TSC. The patient had multidisciplinary management. However, her symptoms progressed, and she eventually succumbed to death. Cutaneous lesions such as facial angiofibromas and ungual fibromas along with multisystemic manifestations should alarm the clinician to TSC. Given its highly variable expressivity, awareness of different TSC‑associated signs and symptoms is essential for prompt diagnosis, proper treatment, disease monitoring, and early recognition of TSC complications.
Angiofibroma ; Lymphangioleiomyomatosis ; Tuberous Sclerosis

Objective: To investigate the expression of glycoprotein non metastatic melanoma protein B (GPNMB) in renal eosinophilic tumors and to compare the value of GPNMB with CK20, CK7 and CD117 in the differential diagnosis of renal eosinophilic tumors. Methods: Traditional renal tumor eosinophil subtypes, including 22 cases of renal clear cell carcinoma eosinophil subtype (e-ccRCC), 19 cases of renal papillary cell carcinoma eosinophil subtype (e-papRCC), 17 cases of renal chromophobe cell carcinoma eosinophil subtype (e-chRCC), 12 cases of renal oncocytoma (RO) and emerging renal tumor types with eosinophil characteristics [3 cases of eosinophilic solid cystic renal cell carcinoma (ESC RCC), 3 cases of renal low-grade eosinophil tumor (LOT), 4 cases of fumarate hydratase-deficient renal cell carcinoma (FH-dRCC) and 5 cases of renal epithelioid angiomyolipoma (E-AML)], were collected at the Affiliated Drum Tower Hospital of Nanjing University Medical School from January 2017 to March 2022. The expression of GPNMB, CK20, CK7 and CD117 was detected by immunohistochemistry and statistically analyzed. Results: GPNMB was expressed in all emerging renal tumor types with eosinophil characteristics (ESC RCC, LOT, FH-dRCC) and E-AML, while the expression rates in traditional renal eosinophil subtypes e-papRCC, e-chRCC, e-ccRCC and RO were very low or zero (1/19, 1/17, 0/22 and 0/12, respectively); the expression rate of CK7 in LOT (3/3), e-chRCC (15/17), e-ccRCC (4/22), e-papRCC (2/19), ESC RCC (0/3), RO (4/12), E-AML(1/5), and FH-dRCC (2/4) variedly; the expression of CK20 was different in ESC RCC (3/3), LOT(3/3), e-chRCC(1/17), RO(9/12), e-papRCC(4/19), FH-dRCC(1/4), e-ccRCC(0/22) and E-AML(0/5), and so did that of CD117 in e-ccRCC(2/22), e-papRCC(1/19), e-chRCC(16/17), RO(10/12), ESC RCC(0/3), LOT(1/3), E-AML(2/5) and FH-dRCC(1/4). GPNMB had 100% sensitivity and 97.1% specificity in distinguishing E-AML and emerging renal tumor types (such as ESC RCC, LOT, FH-dRCC) from traditional renal tumor types (such as e-ccRCC, e-papRCC, e-chRCC, RO),respectively. Compared with CK7, CK20 and CD117 antibodies, GPNMB was more effective in the differential diagnosis (P<0.05). Conclusion: As a new renal tumor marker, GPNMB can effectively distinguish E-AML and emerging renal tumor types with eosinophil characteristics such as ESC RCC, LOT, FH-dRCC from traditional renal tumor eosinophil subtypes such as e-ccRCC, e-papRCC, e-chRCC and RO, which is helpful for the differential diagnosis of renal eosinophilic tumors.
Humans ; Kidney Neoplasms/pathology* ; Carcinoma, Renal Cell/pathology* ; Diagnosis, Differential ; Angiomyolipoma/diagnosis* ; Biomarkers, Tumor/metabolism* ; Leukemia, Myeloid, Acute/diagnosis* ; Membrane Glycoproteins

Objective To investigate the causes of false-positive results in the ⁶⁸Ga-labeled fibroblast activation protein inhibitor (⁶⁸Ga-FAPI-04) PET/CT imaging. Methods The imaging data of 547 patients undergoing ⁶⁸Ga-FAPI-04 PET/CT examination in the Department of Nuclear Medicine of the Affiliated Hospital of Southwest Medical University from September 2020 to May 2021 were retrospectively collected.Two experienced nuclear medicine diagnostic physicians analyzed the clinical data,relevant imaging examinations,laboratory examinations,pathological results and follow-up results of the patients with false-positive results. Results The ⁶⁸Ga-FAPI-04 PET/CT imaging of 547 patients showed false-positive results in 99 (18.1%) patients,including 56 males and 43 females.The postoperative pathological examination confirmed false-positive results in 13 patients,including 1 patient of thyroiditis,2 patients of pulmonary tuberculosis,1 patient of bone tuberculosis,2 patients of pulmonary inflammatory pseudotumor,1 patient of pulmonary sarcoidosis,1 patient of pulmonary benign fibroma,1 patient of organic pneumonia,2 patients of renal angiomyolipoma,1 patient of mass pancreatitis,and 1 patient of pancreatic mucinous cystadenoma.The medical history,relevant imaging examination,and long-term follow-up confirmed false-positive results in 86 patients.Specifically,the false-positive uptake in the neck,chest,abdomen,bone joint,and skin occurred in 8 (9.3%),13 (15.1%),5 (5.8%),57 (66.3%),and 3 (3.5%) patients,respectively.Inflammation-related uptake appeared in 83 (83.8%) patients with false-positive imaging results,of which arthritis (23 patients) and osteophyte (29 patients) were the most common.Sixteen (16.2%) patients showed the false-positive uptake related to fibroblasts. Conclusion ⁶⁸Ga-FAPI-04 PET/CT imaging will show non-malignant tumor false-positive results,which are mainly associated with inflammation and fibroblasts.
Female ; Male ; Humans ; Gallium Radioisotopes ; Positron Emission Tomography Computed Tomography ; Angiomyolipoma ; Retrospective Studies ; Kidney Neoplasms ; Fibroblasts ; Inflammation ; Fluorodeoxyglucose F18 ; Quinolines

Objective: To investigate the clinicopathological features of perivascular epithelioid cell tumor (PEComa) of the lung. Methods: Eight PEComa cases of the lung diagnosed at the First Affiliated Hospital of Soochow University, Suzhou, China from July 2008 to December 2021 were collected and subject to immunohistochemical staining, fluorescence in situ hybridization and next generation sequencing. The relevant literature was reviewed and the clinicopathological features were analyzed. Results: There were 5 males and 3 females, aged from 18 to 70 years (mean 39 years). There were 3 cases of the right upper lung, 3 cases of the left lower lung, 1 case of the left upper lung and 1 case of the right middle lung. Seven cases were solitary and 1 case was multifocal (4 lesions). Seven cases were benign while one was malignant. The tumors were all located in the peripheral part of the lung, with a maximum diameter of 0.2-4.0 cm. Grossly, they were oval and well circumscribed. Microscopically, the tumor cells were oval, short spindle-shaped, arranged in solid nests, acinar or hemangiopericytoma-like patterns, with clear or eosinophilic cytoplasm. The stroma was rich in blood vessels with hyalinization. Coagulated necrosis and high-grade nuclei were seen in the malignant case, and calcification was seen in 2 cases. Immunohistochemically, the tumor cells were positive for Melan A (8/8), HMB45 (7/8), CD34 (6/8), TFE3 (4/7), and SMA (3/8). All cases were negative for CKpan and S-100. TFE3 (Xp11.2) gene fusion was examined using the TFE3 break-apart fluorescence in situ hybridization in 5 cases, in which only the malignant case was positive. The next generation sequencing revealed the SFPQ-TFE3 [t(X;1)(p11.2;p34)] fusion. Follow-up of the patients ranged from 12 to 173 months while one patient was lost to the follow-up. The malignant case had tumor metastasis to the brain 4 years after the operation and then received radiotherapy. Other 6 cases had no recurrence and metastasis, and all the 7 patients survived. Conclusions: Most of the PEComas of the lung are benign. When there are malignant morphological features such as necrosis, high-grade nuclei or SFPQ-TFE3 gene fusion, close follow-up seems necessary.
Male ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Perivascular Epithelioid Cell Neoplasms/pathology* ; Lung/pathology* ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics* ; Necrosis ; Biomarkers, Tumor/analysis*

Renal angiomyolipoma (AML) with renal vein, inferior vena cava (IVC), and right atrial embolism is a rare solid tumor, whose etiology and pathogenesis are still unclear. Moreover, it is often misdiagnosed. One patient with renal AML complicated with renal vein, IVC, and right atrial embolism was admitted to the Second Xiangya Hospital of Central South University, who was a 35-year-old female, without any previous medical history, presented with right low back pain for more than 3 years. Computed tomography (CT) scan showed irregular lobulated fatty density mass in the right kidney, renal vein, IVC, and right atrium. The contrast-enhanced scan showed no enhancement of fat components at each phase and mild enhancement of solid components. Radical resection of the right kidney and removal of tumor thrombus were performed, and there was no recurrence 1 year after the operation. It is rare for renal AML to grow along the renal vein, IVC, and extend to the right atrium. Imaging examination is extremely important, and the CT findings of this case are characteristic, but the diagnosis eventually depends on pathological and immunohistochemical examinations.
Female ; Humans ; Adult ; Vena Cava, Inferior/pathology* ; Angiomyolipoma/surgery* ; Atrial Fibrillation ; Kidney Neoplasms/surgery* ; Embolism/pathology* ; Heart Atria/diagnostic imaging* ; Leukemia, Myeloid, Acute/pathology*

Objective: To investigate hepatic perivascular epithelioid cell tumor (PEComa) diagnosis and treatment plan. Methods: 24 cases diagnosed with PEComa clinical manifestations, serum alpha fetoprotein (AFP), carcinoembryonic antigen (CEA), carbohydrate antigen 199 (CA199), imaging findings, surgical methods, postoperative hospital stay, pathological results and prognosis were analyzed retrospectively from September 2015 to September 2020. Results: Majority of patients were females (79.2%), aged 41.5±11.4 years. Tumors were predominantly located in the right liver (50.0%). 76.7% of the cases were mostly clinically asymptomatic. AFP, CEA and CA199 indices were all negative. CT mostly showed low density tumor in the plain scan phase, enhanced in the enhancement phase, and enhanced and weakened in portal venous and equilibrium phase (66.7%). MRI manifestations of most tumors were hypointense on T₁WI and hyperintense on T₂WI (72.7%). B-ultrasound mostly showed hyperechoic mass in the tumor area with punctate vascular shadow (52.9%). Postoperative hospital stay was 9.0±2.4 days for laparoscopic surgery patients (n=13), 13.4±6.3 days for traditional laparotomy (hereinafter referred to as laparotomy, n=10), and 3 days for 1 patient with microwave ablation. All postoperative pathological results were positive for HMB45 and Melan-A. Follow-up results: 21 cases survived normally, with no tumor recurrence in the recent physical examination; two cases had tumor recurrence and they died two and three years after surgery, and one case was lost to follow-up. Conclusion: Hepatic PEComa more commonly occurs in middle-aged women, with no specific features for tumor markers and clinical manifestations. Some imaging findings are specific, so its features can be combined as a basis for diagnosis. Postoperative pathological examination results can confirm the diagnosis. Therefore, surgery remains the initial treatment plan. Microwave ablation and laparoscopic surgery are recommended as the preferred option because of shorter hospital stays and less trauma than open surgery.
Adult ; Biomarkers, Tumor/analysis* ; Carbohydrates ; Carcinoembryonic Antigen ; Female ; Humans ; Liver/pathology* ; MART-1 Antigen ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Perivascular Epithelioid Cell Neoplasms/surgery* ; Retrospective Studies ; alpha-Fetoproteins

Carcinoma, Papillary/surgery* ; Humans ; Parapharyngeal Space ; Perivascular Epithelioid Cell Neoplasms ; Thyroid Cancer, Papillary ; Thyroid Neoplasms/surgery*

OBJECTIVE: To investigate the capabilities of classification models based on hierarchical fusion framework of multi-classifier using a random projection strategy for differentiation of renal cell carcinoma (RCC) from small renal angiomyolipoma (< 4 cm) without visible fat (AMLwvf). METHODS: We retrospectively collected the clinical data from 163 patients with pathologically proven small renal mass, including 118 with RCC and 45 with AMLwvf.Target region of interest (ROI) delineation was performed on an unenhanced phase (UP) CT image slice displaying the largest lesion area.The radiomics features were used to establish a hierarchical fusion method.On the projection-based level, the homogeneous classifiers were fused, and the fusion results were further fused at the classifier-based level to construct a multi-classifier fusion system based on random projection for differentiation of AMLwvf and RCC.The discriminative capability of this model was quantitatively evaluated using 5-fold cross validation and 4 evaluation indexes[specificity, sensitivity, accuracy and area under ROC curve (AUC)].We quantitatively compared this multi-classifier fusion framework against different classification models using a single classifier and several multi-classifier ensemble models. RESULTS: When the projection number was set at 10, the proposed hierarchical fusion differentiation framework achieved the best results on all the evaluation measurements.At the optimal projection number of 10, the specificity, sensitivity, average accuracy and AUC of the multi-classifier ensemble classification system for differentiation between AMLwvf and RCC were 0.853, 0.693, 0.809 and 0.870, respectively. CONCLUSION The proposed model constructed based on a multi-classifier fusion system using random projection shows better performance to differentiate RCC from AMLwvf than the AMLwvf and RCC discrimination models based on a single classification algorithm and the currently available benchmark ensemble methods.
Angiomyolipoma/pathology* ; Carcinoma, Renal Cell ; Diagnosis, Differential ; Humans ; Kidney Neoplasms/pathology* ; Retrospective Studies ; Tomography, X-Ray Computed/methods*

Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics* ; Biomarkers, Tumor ; Humans ; Perivascular Epithelioid Cell Neoplasms/surgery* ; Stomach

OBJECTIVE: To evaluate the value of Gerota's fascia suspension device in retroperitoneal laparoscopic partial nephrectomy, and to share the operation experience. METHODS: From October 2018 to December 2020, 6 cases of tumor located in the ventral side of the kidney were selected, including 3 males and 3 females, with 3 cases on the right side and 3 cases on the left side, aged 38-60 years, with an average of 52 years. The body mass index (BMI) was 18.3-30.2 kg/m², with an average of 22.9 kg/m². One patient with diabetes mellitus, three patients with renal cysts, and two patients underwent cholecystectomy before. All the patients were found by physical examinations. The course of disease was 7 days to 20 years, with a median time of 1 month. The tumor was in the ventral side of the kidney, 2 cases located in the upper pole, 1 case in the lower pole and 3 cases near the renal hilum. The tumor size was 1.2-7.8 cm, with an average of 4.5 cm. The R.E.N.A.L score was 7 in 1 case, 8 in 3 cases and 9 in 2 cases. After the preoperative examination completed, retroperitoneal laparoscopic partial nephrectomy (Gerota's fascia suspension device) was performed. RESULTS: All the operations were successfully completed. The operation time ranged from 139 to 193 min, with an average of 172 min. The renal artery occlusion time was 7-43 min, with an average of 19 min, only one case was more than 30 min. The blood loss ranged from 10 to 500 mL, with an average of 128 mL. The postoperative hospital stay ranged from 4 to 13 days, with an average of 6.5 days. Postoperative pathology revealed 4 cases of renal angiomyolipoma and 2 cases of renal clear cell carcinoma. The patients were followed up for 2-27 months, with an average of 17 months, without recurrence. CONCLUSION In the operation of retroperitoneal laparoscopic partial nephrectomy, Gerota's fascia suspension device is beneficial to expose the ventral surgical field, and it is convenient for the surgeon to operate with both hands. This technique is an effective method to deal with the ventral renal tumor, which is worthy of promotion.
Angiomyolipoma ; Fascia ; Female ; Humans ; Kidney ; Kidney Neoplasms/surgery* ; Laparoscopy ; Male ; Nephrectomy