Aggressive angiomyxoma is a rare mesenchymal tumor. To discuss the clinicopathological characteristics, treatment and prognosis of aggressive angiomyxoma, four cases of aggressive angiomyxoma of soft tissue in abdominopelvic cavity were collected from January 2015 to August 2017 in Peking University International Hospital. The clinical data, imaging examination, histopathological features, immunophenotype, therapy and prognosis were analysed. The related literatures were reviewed. All of the patients were adult females, age range from 27 to 49 years and mean 33 years. The clinical complaint was abdominal distention with no definite predisposing factor, or occasional physical-exam finding with no obvious discomfort. Three cases were primary and one case was recurrent. Typical layered or swirled structural sign was presented by CT and MRI scanning of three cases. All tumors located in the pelvic cavity, and attached to the uterus, vagina, rectum, bladder or ureter. One case was involved in the abdominal cavity simultaneously,adhesive to the spine, inferior vena cava and spleen. The gross appearance of tumors was from 5 to 22 cm in maximum diameter. The sectioned surfaces were soft, solid, white or yellow-gray, focally accompanied by edema, mucoid degeneration or cystic change. Microscopic observation showed that tumor cells were short spindle shaped and little atypical, the stroma was loose like edematous mucus or collagen, and the vessels were rich in thin and thick-wall. Partially the vessel wall expressed hyaline degeneration. Also tumors might infiltrate surrounding tissue, such as fat or nerve. The immunohistochemistry results of all cases were estrogen receptor and progesterone receptor diffusely moderate positive, Desmin and smooth muscle actin mostly positive, whereas CD34 expressed only in vessel and S-100 protein, CD117 and Dog1 all negative. All the tumors were complete surgical excision. During follow-up, one case recurred the second time. Our conclusions are the diagnosis of aggressive angiomyxoma is based on pathological morphology supplemented by immunohistochemistry, and the tumor may relapse after surgical resection.
Adult ; Desmin/analysis* ; Female ; Humans ; Immunohistochemistry ; Middle Aged ; Myxoma/pathology* ; Neoplasm Recurrence, Local ; Receptors, Estrogen/analysis*

Smooth muscle tumor of the uveal tract is rare, and mostly located in the ciliochoroidal area. We report a unique case of posterior choroidal leiomyoma in a 27-yr-old man. Ophthalmoscopic examination disclosed an 11 mm-sized mass on the fundus two-disc diameters apart from the optic disc. With a suspicion of amelanotic melanoma, the globe was enucleated. The mass occupied the whole thickness of choroidal stroma beneath the pigmented retinal epithelium and composed of spindle cells arranged in intersecting fascicles. Immunohistochemical studies demonstrated immunoreactivities of the tumor cells for smooth muscle actin, desmin, and vimentin. Ultrastructurally, numerous intracytoplasmic filaments with fusiform focal densities, scattered segmental external laminae, subplasmalemmal densities, and pinocytic vesicles were noted. The leiomyoma in this case had several unusual features in that it was confined to the posterior choroid with no relation to the ciliary body, occupied the whole stroma of the choroid instead of suprauveal location, and occurred in a young male. It is important to include choroidal leiomyoma in the differential diagnosis of choroidal tumors.
Actins/analysis ; Adult ; Choroid Neoplasms/chemistry/*pathology ; Desmin/analysis ; Humans ; Leiomyoma/chemistry/*pathology ; Male ; Uveal Neoplasms/chemistry/*pathology ; Vimentin/analysis

PURPOSE: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumor of the gastrointestinal tract. Recent studies have revealed much of the biological and genetics underpinning GISTs. METHODS: KIT, PDGFRA, NF2 and GPHN mutations were examined by PCR-SSCP and DNA sequencing. Immunohistochemical analyses of CD117, CD34, SMA, S-100 and desmin were performed in 11 GISTs cases, and each tumor classified as being either very low, low, intermediate or high risk. RESULTS: Mutation in exon 11 of KIT was identified in 6 of the 11 GISTs, but mutations in exon 9, 13 and 17 of KIT were not detected. Three cases lacking KIT mutations showed PDGFRA mutations. No NF2 mutations were detected. GPHN gene mutation in exon 1 was identified in one case, which showed a simple point mutation in exon 11 of KIT. In a correlation between the mutation types and risk of aggressive behavior, four tumors involved multiple ( >2 codons) KIT mutations and one showed a point mutation of KIT plus a GPHN mutation were high risk, but one tumor with a point mutation of KIT showed a low risk. Three tumors having a PDGFRA mutation were of intermediate or very low risk. CONCLUSION: Mutations at exon 9, 13 or 17 of KIT and a NF2 mutation are considered rare in sporadic GIST. KIT and PDGFRA mutations appeared to be alternatives. A GPHN mutation occurring with a KIT mutation may be a secondary change in the pathogenesis of GIST, as the KIT mutation is a major event in GIST. KIT mutant GIST may have a poorer prognosis than PDGFRA mutant GIST.
Desmin ; Exons ; Gastrointestinal Stromal Tumors* ; Gastrointestinal Tract ; Genetics ; Point Mutation ; Prognosis ; Sequence Analysis, DNA

BACKGROUND: Gastrointestinal stromal tumor (GIST) is the most common non-epithelial neoplasm arising in the gastrointestinal tract. The aim of this study is to investigate the correlation among the clinicopathologic features, presence of c-kit mutation, and immunohistochemical expression of c-kit in 61 cases of GISTs. METHODS: We divided the GISTs into three groups as benign, boderline and malignant, according to histologic grade. Exon 11 of the c-kit was amplified by PCR and sequenced. We performed immunohistochemical study for CD117, CD34, vimentin, SMA, desmin, and S-100 protein. RESULTS: Twenty-one cases were diagnosed as benign GISTs, 14 cases as borderline GISTs, and 26 cases as malignant GISTs. The shape, atypia, cellularity, and necrosis showed good correlations with the histologic grades of the GISTs.Mutations of exon 11 of the c-kit were detected in 3 benign GISTs, 4 borderline GISTs, and 13(%) malignant GISTs. Sequence analysis confirmed the deletion mutation (n=16) and the singlebase pair mutation (n=4). The immunohistochemical stainings showed myogenic differentiation(n=20), neurogenic differentiation (n=15), and neither myogenic or neurogenic differentiation(n=34). CONCLUSIONS: The GIST is the primitive mesenchymal tumor capable of divergent differentiation, and the mutation of the c-kit is a good parameter for the malignant GIST.
Desmin ; Exons ; Gastrointestinal Stromal Tumors* ; Gastrointestinal Tract ; Immunohistochemistry ; Necrosis ; Polymerase Chain Reaction ; S100 Proteins ; Sequence Analysis ; Sequence Deletion ; Vimentin

OBJECTIVETo culture rat corpus cavernosum smooth muscle cells in vitro using a modified tissue culture method.

METHODSFifteen male rats were randomized into 3 equal groups, namely enzyme digestion group, tissue culture group, and modified tissue culture group. The penis of the rats was separated carefully and cut into small pieces, and seeded onto culture flasks and cultured in complete medium consisting of DMEM containing 20% fetal calf serum at 37 degrees C; in a humidified atmosphere with 5% carbon dioxide. The cells growth was observed under phase contrast microscope and the smooth muscle cell specific proteins alpha-SM-actin and desmin were identified immunohistochemically.

RESULTSThe alpha-SM-actin-positive cell rate was 96.3% in rat corpus cavernosum smooth muscle and 23.8% in the fibroblasts, and the corpus cavernosum smooth muscle contained 74.4% desmin-positive cells while the fibroblasts showed no desmin positivity. Significant difference was found in the positive cell rate for desmin among the 3 groups, with the highest positive cell rate occurred in modified tissue culture group.

CONCLUSIONDesmin may serve as a marker for identifying corpus cavernosum smooth muscle cells. The modified tissue culture method can result in highly purified corpus cavernosum smooth muscle cells with intact structure and functions.

Actins ; analysis ; Animals ; Biomarkers ; analysis ; Cell Proliferation ; Desmin ; analysis ; Male ; Muscle, Smooth ; cytology ; Penis ; cytology ; Rats ; Rats, Sprague-Dawley ; Tissue Culture Techniques

OBJECTIVETo study the clinicopathological and immunohistochemical features, histogenesis and prognosis of pleuropulmonary blastoma (PPB) in children.

METHODSPPB specimens from 16 pediatric cases with an age ranging from 1 year and 7 months to 5 years and 3 months (mean age of 3 years) were retrieved and analyzed by routine histological, immunohistochemical and electron methods.

RESULTSAmong 16 patients, there were 2 type I, 7 type II and 7 type III PPB cases. Type I PPB as multilocular cystic structure, consisted of thin fibrous wall lining the respiratory epithelium, subepithelial primitive blastema or immature mesenchymal cells, with or without rhabdomyoblastic differentiation or cartilage; Type II PPB as cystic-solid tumor, comparing with type I, consisted of intracystic components with appearance of anaplastic tumor cells. Type III PPB consisted of completely solid mass, the same as the solid region of type II, had mixed pattern including blastema, undifferentiated spindle-cell proliferations and sarcomas. In addition, anaplastic tumor cells and intra-and extra- cytoplasmic eosinophilic globules were also commonly present. Epithelial components in PPB were benign. Immunohistochemical study showed primitive mesenchymal differentiation of tumors. All cases were positive for vimentin, desmin, myogenin and SMA in tumors with skeletal muscle differentiation, S-100 was positive in tumors with cartilage differentiation. All tumors were negative for synaptophysin, CD99, and CD117. Benign epithelial components were positive for AE1/AE3 and EMA. In 12 cases, electron microscopy revealed few organelles in the primitive mesenchymal cells and rich heterochromatin in mesenchymal cells, the latter also demonstrating cytoplasmic myofilament dysplasia. Nine cases had clinical follow-up ranging from 5 to 48 months, of which 4 patients died.

CONCLUSIONSPPB is a rare lung neoplasm of children under the age of 6 years, with distinct pathological morphology. PPB may arise from lung or pleura mesenchymal cells and has a poor clinical outcome.

Child, Preschool ; Cysts ; pathology ; Desmin ; analysis ; Female ; Humans ; Infant ; Lung Neoplasms ; chemistry ; pathology ; Male ; Microscopy, Electron ; Myogenin ; analysis ; Prognosis ; Pulmonary Blastoma ; chemistry ; pathology ; Sarcoma ; pathology ; Vimentin ; analysis

Objective: To investigate the clinicopathological characteristics, immunophenotype, molecular genetics and differential diagnoses of fibrocartilaginous lipomas which consist of adipose tissue, fibrocartilage and fibrous elements. Methods: The clinicopathological features, immunohistochemical profiles and molecular profiles in six cases of fibrocartilaginous lipomas diagnosed at Foshan Traditional Chinese Medicine Hospital, Fudan University Shanghai Cancer Center, the Fifth Affiliated Hospital of Zhengzhou University and the Fourth Affiliated Hospital of Harbin Medical University from January 2017 to February 2022 were included. The follow-up information, diagnosis and differential diagnoses were evaluated. Results: There were three males and three females with a median age of 53 years (range 36-69 years) at presentation. Tumors were located in the extremities, the head and neck region and trunk; and presented as painless masses that were located in the subcutaneous tissue or deep soft tissue. Grossly, three cases were well defined with thin capsule, one case was well circumscribed without capsule, two cases were surrounded by some skeletal muscle. The tumors were composed of fatty tissue with intermingled gray-white area. The tumors ranged from 1.50-5.50 cm (mean 2.92 cm). Microscopically, the hallmark of these lesions was the complex admixture of mature adipocytes, fibrocartilage and fibrous element in varying proportions; the fibrocartilage arranged in a nodular, sheet pattern with some adipocytes inside. Tumor cells had a bland appearance without mitotic activity. Immunohistochemical analysis using antibodies to SMA, desmin, S-100, SOX9, HMGA2, RB1, CD34, adipopholin was performed in six cases; the fibrocartilage was positive for S-100 and SOX9, adipocytes were positive for S-100, adipopholin and HMGA2; CD34 was expressed in the fibroblastic cells, while desmin and SMA were negative. Loss of nuclear RB1 expression was not observed. Other genetic abnormalities had not been found yet in four cases. Follow-up information was available in six cases; there was no recurrence in five, and one patient only underwent biopsy of the mass. Conclusions: Fibrocartilaginous lipoma is a benign lipomatous tumor with mature adipocytes, fibrocartilage and fibrous elements. By immunohistochemistry, they show the expression of fat and cartilage markers. No specific molecular genetics changes have been identified so far. Familiarity with its clinicopathological features helps the distinction from its morphologic mimics.
Male ; Female ; Humans ; Adult ; Middle Aged ; Aged ; Desmin/analysis* ; China ; Lipoma/pathology* ; Fibroblasts/pathology* ; S100 Proteins/analysis* ; Diagnosis, Differential ; Fibrocartilage/pathology* ; Biomarkers, Tumor/analysis*

Animals ; Desmin ; analysis ; genetics ; Female ; Immunohistochemistry ; Intermediate Filament Proteins ; analysis ; genetics ; Kidney Glomerulus ; chemistry ; Nephrosis ; metabolism ; Nerve Tissue Proteins ; analysis ; genetics ; Nestin ; Podocytes ; chemistry ; RNA, Messenger ; analysis ; Rats ; Rats, Inbred WKY ; Vimentin ; analysis ; genetics

OBJECTIVETo study the morphological characteristics and immunophenotype of highly cellular leiomyoma (HCL) of uterus, compared with that of uterine endometrial stromal tumors (EST).

METHODSHE and immuno-stained sections EnVision method from 20 cases of HCL, 21 cases of EST and 1 case of stromomyoma were reviewed. Monoclonal antibodies against h-caldesmon, calponin, CD10, desmin and smooth muscle actin (SMA) were used for immunohistochemistry studies.

RESULTSOn microscopic examination, HCL were densely cellular and composed of cells that ranged from spindle-shaped to round with scanty cytoplasm. A focal fascicular pattern was present in all cases. Blood vessels with large, thick muscular walls were a conspicuous feature of the majority of tumors. Cleft-like spaces were present in 9 tumors and 15 cases exhibited irregular focal extensions into the adjacent myometrium. ESTs were composed of cells that resembled endometrial stromal cells of proliferative endometrium. These cases included a significant component of delicate blood vessels similar to spiral arterioles. All 20 low grade endometrial stromal sarcoma cases had infiltrative growth to adjacent myometrium. Immunoreactivities of HCL for h-caldesmon, calponin, CD10, Desmin and SMA were 80.0% (16/20), 100% (20/20), 0 (0/20), 95.0% (19/20) and 100% (20/20), respectively, whereas the positive rates of EST were 4.7% (1/21), 23.8% (5/21), 66.7% (14/21), 23.8% (5/21) and 19.0% (4/21), respectively (P = 0.001).

CONCLUSIONSHighly cellular leiomyomas have distinct morphologic features. H-caldesmon, calponin, CD10, desmin and SMA are helpful in the differential diagnosis of HCL and EST.

Adult ; Calcium-Binding Proteins ; analysis ; Calmodulin-Binding Proteins ; analysis ; Desmin ; analysis ; Endometrial Neoplasms ; metabolism ; pathology ; Endometrial Stromal Tumors ; metabolism ; pathology ; Female ; Humans ; Immunohistochemistry ; Leiomyoma ; metabolism ; pathology ; Microfilament Proteins ; Middle Aged ; Neprilysin ; analysis ; Uterine Neoplasms ; metabolism ; pathology

OBJECTIVETo profile the protein expression in activated rat hepatic stellate cells (HSCs).

METHODSPrimary rat HSCs were isolated and cultured in vitro. After 10 days in vitro culture, the HSCs were activated. Total protein extracted from these activated HSCs were digested, and the obtained peptides were analyzed by using online 2D nanoLC-MS/MS. The identified proteins were classified according to their distributions and functions.

RESULTS1014 proteins were identified from 50 microg HSCs protein extract, the molecular weights of these proteins ranged from 7832 Da to 588,364 Da. Most of these proteins resided in nucleus, cytoskeleton, mitochondrion and endoplasmic reticulum. And these proteins were mainly involved in nucleic acid metabolism, organelle organization, signal transduction and energy generation. Among these proteins, alpha-smooth muscle actin, vimentin and desmin were specifically expressed in activated HSCs.

CONCLUSIONTo the best of our knowledge, this is the most comprehensive protein expression profile of activated rat HSCs.

Actins ; analysis ; metabolism ; Animals ; Cell Nucleus ; metabolism ; Cells, Cultured ; Chromatography, High Pressure Liquid ; methods ; Desmin ; analysis ; metabolism ; Hepatic Stellate Cells ; metabolism ; Male ; Proteome ; analysis ; metabolism ; Proteomics ; Rats ; Rats, Sprague-Dawley ; Tandem Mass Spectrometry ; Vimentin ; analysis ; metabolism