Objective: To investigate the ultrasonographic features and clinical pathological of liver metastasis in patients with melanoma. Methods: Thirteen patients with liver metastasis from melanoma treated in Tianjin Medical University Cancer Institute and Hospital from 2013 to 2019 were selected, and their ultrasonographic and clinicopathological characteristics were analyzed retrospectively. Results: Eleven of the 13 patients had multiple liver lesions. The maximum diameter of the lesions was (5.89±2.73) cm. Five cases of lesions were mixed echo (3 cases with high melanin content), 4 cases of lesions were hyperechoic (3 cases with low melanin content), 3 cases of lesions were hypoechoic (all with high melanin content), 1 case of lesions were equal echo (with high melanin content). The lesions in 11 patients had clear boundaries, while other 2 patients lacked the clear borders. Cystic areas were present in the lesions of 3 patients. Six cases had irregular lesions (lobulated), and 7 cases had regular lesions (round, oval). There were acoustic halos around the lesion in 9 cases and smooth and uneven acoustic halos in 5 cases. The results of immunohistochemistry showed that 11 cases were positive for S-100, HMB45 and Melan-A. One patient was not tested for HMB45, while S-100 and Melan-A were positive. One patient did not undergo Melan-A test, while S-100 and HMB45 were positive. Conclusion: Most of the liver metastases of melanoma are mixed echo or hyperechoic, most of them are nodular with clear boundaries combined with vocal halo, and a few of the lesions have cystic areas.
Humans ; Liver Neoplasms/secondary* ; MART-1 Antigen ; Melanins ; Melanoma/pathology* ; Retrospective Studies

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

Perivascular epithelioid cell tumor (PEComa) is a very rare mesenchymal tumor with a distinctive morphology and immunophenotype. PEComas usually harbor TSC2 alterations, although TFE3 translocations, which occur in MiT family translocation renal cell carcinoma and alveolar soft part sarcoma, are also possible. We recently experienced a case of PEComa with TFE3 expression arising in the breast. An 18-year-old female patient presented with a right breast mass. Histologically, the tumor consisted of epithelioid cells with alveolar structure and showed a diffuse strong expression of HMB45 and TFE3. TSC2 was preserved. Melan A and smooth muscle actin were negative. To our knowledge, this is the first Korean case of PEComa of the breast that intriguingly presented with TFE3 expression.
Actins ; Adolescent ; Breast ; Carcinoma, Renal Cell ; Epithelioid Cells ; Female ; Humans ; MART-1 Antigen ; Muscle, Smooth ; Perivascular Epithelioid Cell Neoplasms ; Sarcoma, Alveolar Soft Part

Here we report a case of a focal atypical proliferative nodule (PN) arising from a congenital melanocytic nevus (CMN). Diagnosis was challenging because it had both benign and malignant clinical features. Unusual histopathology, immunohistochemistry, and intraoperative findings of this atypical PN are discussed. A 5-year-old girl was admitted for a congenital 5× 5 cm sized scalp mass. This hemangioma-like soft mass showed biphasic characteristics such as a slow, gradual, and benign increase in size but worrisome dural invasion with cranial bone defect. We removed the scalp mass with clear resection margins. Interoperatively, we found that the cranial bone defect had already filled. Histopathologic examination showed CMN with focal atypical PN. The nodule showed sharp demarcation and cellular pleomorphism. However, in immunohistochemical study, Ki-67 proliferation index and expression levels of protein S-100 and Melan-A were very low. These were unusual findings of atypical PNs. Despite her worrisome preoperative radiologic features, she showed an indolent clinical course compatible with previously reported biologic behavior. The patient underwent follow-up inspection with magnetic resonance imaging every 6 months for up to 3 years. The nodule appeared to be stationary at the last visit.
Child, Preschool ; Diagnosis ; Dura Mater ; Female ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Magnetic Resonance Imaging ; MART-1 Antigen ; Neoplasm Invasiveness ; Nevus, Pigmented ; Scalp ; Tissue Expansion Devices

A 69-year-old man presented with a black irregular patch on his left cheek. Skin biopsy revealed lentigo maligna melanoma in situ. He was treated via partial excision of the melanoma, followed by the application of 5% imiquimod cream every other night for 6 to 8 hours. The patient experienced severe local inflammation accompanied by burning, edema, and erythema, as well as oozing and crusting. The patient discontinued using the imiquimod cream after 15 applications because of the inflammation. Depigmentation was noted in the treated area 3 months after the initiation of treatment with imiquimod cream. Histological examination using Melan-A staining of the depigmented area revealed an absence of melanocytes, which is consistent with vitiligo. The depigmented lesions improved considerably after a 5-year follow-up, and there was no recurrence of melanoma.
Aged ; Biopsy ; Burns ; Cheek ; Edema ; Erythema ; Follow-Up Studies ; Humans ; Hutchinson's Melanotic Freckle* ; Inflammation ; Lentigo* ; MART-1 Antigen ; Melanocytes ; Melanoma* ; Recurrence ; Skin ; Toll-Like Receptors ; Vitiligo

We describe a case of a 61-year-old Korean man who was diagnosed with renal cell carcinoma that was discovered on abdominopelvic computed tomography obtained after the patient complained of back pain. A radical nephrectomy was performed, and the surgical specimen showed a relatively well-circumscribed and yellowish lobulated hard mass. Microscopically, the tumor showed sheets and nests of hypercellular pleomorphic cells with thick fibrous septation, frequent mitoses, and areas of adrenal cortical-like tissue. Immunohistochemical staining revealed that the tumor cells were positive for inhibin-α, vimentin, synaptophysin, and melan A. It also revealed that the tumor cells were negative for pan-cytokeratin, epithelial membrane antigen, paired box 8, α-methylacyl-coenzyme A racemase, CD10, cytokeratin 7, carbonic anhydrase 9, c-Kit, renal cell carcinoma, transcription factor E3, human melanoma black 45, desmin, smooth muscle actin, S-100, chromogranin A, CD34, anaplastic lymphoma kinase, and integrase interactor 1. Based on these histopathological and immunohistochemical findings, we diagnosed the tumor as intrarenal adrenocortical carcinoma arising in an adrenal rest. Several cases of intrarenal adrenocortical carcinoma have been reported, although they are very rare. Due to its poor prognosis and common recurrence or metastasis, clinicians and pathologists must be aware of this entity.
Actins ; Adrenal Rest Tumor ; Adrenocortical Carcinoma ; Back Pain ; Carbonic Anhydrases ; Carcinoma, Renal Cell ; Chromogranin A ; Desmin ; Humans ; Integrases ; Keratin-7 ; Lymphoma ; MART-1 Antigen ; Melanoma ; Middle Aged ; Mitosis ; Mucin-1 ; Muscle, Smooth ; Neoplasm Metastasis ; Nephrectomy ; Phosphotransferases ; Prognosis ; Recurrence ; Synaptophysin ; Transcription Factors ; Vimentin

To explore the activity of the pmel core promoter of Bashang long-tail chickens, we constructed dual-luciferase expression vectors and transiently transfected into DF1 cells with Lipofectamine 2000. We measured the luciferase activity with the dual-luciferase detection kit. The 1 268 bp fragment in 5-flanking region of the pmel gene in Bashang long-tail chickens was cloned. The region from -1 200 bp to +68 bp included 2 CpG islands and multiple transcription factor binding sites. We constructed 9 expression vectors with different promoter regions and a mutant vector of the core promoter region of the pmel gene of Bashang long-tail chickens. The core promoter region from -840 bp to +68 bp was identified in the pmel gene. The region from -590 to -525 bp negatively regulated the pmel gene during the transcription process. The -840--590 bp and -525--266 bp regions were positive regulatory regions. The polymorphic sites (-456, -435, -410, -374 and -341) had a significant effect on the promoter activity of the pmel gene.
Animals ; Chickens ; genetics ; Cloning, Molecular ; CpG Islands ; Luciferases ; Promoter Regions, Genetic ; gp100 Melanoma Antigen ; genetics

PURPOSE: Solitary plexiform neurofibroma of the eyelid without neurofibromatosis is a rare disease. We report a case of solitary plexiform pigmented neurofibroma of the eyelid without neurofibromatosis. CASE SUMMARY: A 12-year-old male visited our clinic with a painless palpable subcutaneous mass on the right lower eyelid. He had a history of Batter syndrome and attention deficit hyperactivity disorder. On initial presentation, clinical features regarding neurofibromatosis such as Lisch nodule, optic nerve glioma, or high myopia were not observed. We performed excision and biopsy of the lower lid mass under general anesthesia. Macroscopically, the tumor was 4.0 × 1.5 × 1.5 cm in size with irregular nodules. Microscopically, the tumor consisted of multiple, variably sized tortous enlarged nerve fascicles with clusters of pigmented cells. Immunohistochemical results revealed expression of S-100 protein. Pigmented cells express both S-100 and melan-A proteins, while nonpigmented cells express S-100 protein only. The tumor was finally diagnosed as plexiform pigmented neurofibroma. Dermatological evaluation revealed no evidence of systemic neurofibromatosis. CONCLUSIONS: Plexiform neurofibroma should be considered in the differential diagnosis of an eyelid mass, even if the patient does not have a history or clinical features of neurofibromatosis. Plexiform neurofibroma can be successfully managed with surgical excision.
Anesthesia, General ; Attention Deficit Disorder with Hyperactivity ; Biopsy ; Child ; Diagnosis, Differential ; Eyelids* ; Humans ; Male ; MART-1 Antigen ; Myopia ; Neurofibroma ; Neurofibroma, Plexiform* ; Neurofibromatoses ; Neurofibromatosis 1 ; Optic Nerve Glioma ; Rare Diseases ; S100 Proteins

Perivascular epithelioid cell tumors or PEComas can arise in any location in the body. However, a limited number of cases of gastric PEComa have been reported. We present two cases of gastric PEComas. The first case involved a 62-year-old woman who presented with a 4.2 cm gastric subepithelial mass in the prepyloric antrum, and the second case involved a 67-year-old man with a 5.0 cm mass slightly below the gastroesophageal junction. Microscopic examination revealed that both tumors were composed of perivascular epithelioid cells that were immunoreactive for melanocytic and smooth muscle markers. Prior to surgery, the clinical impression of both tumors was gastrointestinal stromal tumor (GIST), and the second case was erroneously diagnosed as GIST even after microscopic examination. Although gastric PEComa is a very rare neoplasm, it should be considered in the differential diagnosis of gastric submucosal lesions.
Aged ; Diagnosis, Differential ; Epithelioid Cells* ; Esophagogastric Junction ; Female ; Gastrointestinal Stromal Tumors ; Humans ; MART-1 Antigen ; Middle Aged ; Muscle, Smooth ; Perivascular Epithelioid Cell Neoplasms ; Stomach Neoplasms ; Stomach*

Epithelioid angiomyolipoma (EAML) of liver is a rare neoplasm. Hepatic EAML is often misdiagnosed as other neoplasms such as hepatocellular carcinoma due to non-specific clinical and radiologic features. The morphologic features under microscope and immunohistochemistry staining profile are important in the diagnosis EAML. Here, we report a case of 52-year-old man who found 1.2 cm mass in liver by routine checkup. On the impression of hepatocellular carcinoma, lateral sectionectomy of the liver was done. Microscopically, the tumor is composed of predominant epithelioid cells with vascular component and foamy cells. These cells were positive for HMB45, MelanA, and smooth muscle actin and negative for epithelial membrane antigen. The final diagnosis was hepatic EAML.
Actins ; Angiomyolipoma* ; Carcinoma, Hepatocellular ; Diagnosis ; Epithelioid Cells ; Humans ; Immunohistochemistry ; Liver* ; MART-1 Antigen ; Middle Aged ; Mucin-1 ; Muscle, Smooth ; Perivascular Epithelioid Cell Neoplasms