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Objective: To investigate the clinicopathological and genetic features of epithelioid and spindle cell rhabdomysarcoma with EWSR1-TFCP2 or FUS-TFCP2 fusion. Methods: The clinical, morphological and immunohistochemical features of 14 cases of epithelioid and spindle cell rhabdomysarcoma with EWSR1-TFCP2 or FUS-TFCP2 fusion diagnosed from January 2019 to December 2022 in the Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan, China were retrospectively analyzed. The cases were all subject to FISH or next generation sequencing for analysis of molecular genetic features. The literature was reviewed. Results: There were 5 males and 9 females, with the age at presentation ranging from 6 to 36 years (mean, 22 years). Tumors occurred in the head and neck (9 cases), pelvic region (2 cases), bladder (one case), right humerus (one case), and the abdominal wall, humerus and pubic at the same time (one case). Presenting symptoms varied by location but often included pain or discomfort. Most of the patients showed aggressive radiographic features with soft tissue extension. The tumors had a median size of 6.6 cm (range, 2-23 cm). The tumors were poorly defined and irregularly shaped. Microscopic examination showed diffuse proliferation of spindle or epithelioid cells. While morphologically high-grade tumors displayed obvious cytological atypia, a high mitotic count and tumor necrosis, low-grade tumors grew in sheets and fascicles composed of spindle, epithelioid cells with moderate or abundant amounts of eosinophilic cytoplasm, without pronounced cytological atypia. The tumor cells expressed Desmin, MyoD1, and Myogenin, as well as ALK, EMA, and CKpan. EWSR1/FUS-TFCP2 gene fusion was detected in 14 cases with next generation sequencing and confirmed by FISH. Six cases had EWSR1-TFCP2 fusions and 8 cases showed FUS-TFCP2 fusions. Follow-up information was available in 13 patients, ranged from 5 to 37 months. At the end of follow-up period, 7 patients died of the disease. Six patients were alive:two cases had local recurrences and metastases, two cases of recurrences, one case of metastasis and one case without recurrences and metastasis. Conclusions: Epithelioid and spindle cell rhabdomysarcomas with EWSR1-TFCP2 or FUS-TFCP2 fusion show a very aggressive clinical course, and more commonly occur in the head and neck. Their genetic hallmark is the presence of EWSR1/FUS-TFCP2 fusions. Familiarity with its clinicopathological characteristics is helpful in avoiding misdiagnoses.
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Masculino , Femenino , Humanos , Niño , Adolescente , Adulto Joven , Adulto , Estudios Retrospectivos , Factores de Transcripción/genética , Rabdomiosarcoma , Proteína EWS de Unión a ARN/genética , China , Biomarcadores de Tumor/genética , Proteínas de Unión al ADN/genética , Proteína FUS de Unión a ARN/genéticaRESUMEN
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.
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Masculino , Femenino , Humanos , Adulto , Persona de Mediana Edad , Anciano , Desmina/análisis , China , Lipoma/patología , Fibroblastos/patología , Proteínas S100/análisis , Diagnóstico Diferencial , Fibrocartílago/patología , Biomarcadores de Tumor/análisisRESUMEN
ObjectiveTo explore the practical value of environment-friendly sample release agent combined with ultrasound in the preparation of pathological tissue sections. MethodsFrom February 2013 to December 2022, 2 518 pathological specimens submitted by Foshan Municipal Hospital of Traditional Chinese Medicine were selected as the study objects. Two samples of the same specimen were randomly divided into two groups: the environment-friendly fast group, in which the pathological tissue sections were made by using the environment-friendly sample release agent combined with ultrasound; and the traditional group, in which formaldehyde, ethanol and xylene were used to make slices in the conventional way. The differences of hematoxylin (HE) staining effect, immunohistochemistry (IHC) staining effect and MDM2 gene detection result of atypical lipomatous tumor/highly differentiated liposarcoma (ALT/WDL) tissue sections between the two groups were compared. Results① The wax of the two groups' pathological tissues was dehydrated well and the tissue hardness was moderate. After HE staining, the sections of the two groups were intact, without cracks and tremor marks, and the contrast between nucleus and cytoplasm was appropriate, with good transparency, uniform staining, and no tissue loss. The excellent rate and score of HE staining in the environmental fast group were higher than those in the traditional group, but the difference was not statistically significant (χ2 = 3.125,P1 = 0.070;t = 0.965,P2 = 0.334). ②After IHC staining of the two groups of sections, the positive location of the cells was accurate, the staining was specific and uniform, the staining intensity was moderate, the staining sensitivity was good, and there was no tissue loss. The excellent rate of IHC staining and the positive rate of IHC staining in the environmental fast group were lower than those in the traditional group, but the difference was not statistically significant (χ12 = 2.769,P1 = 0.092;χ22 = 0.800,P2 = 0.375). ③The background and outline of the two groups of WDL tissue sections were clear, the staining was uniform, the cells were clear and visible, the nuclear boundary was clear, the hybridization signal was clear and bright under the background fluorescence, and there was no miscellaneous signal. The two groups of sections were hybridized successfully, and MDM2 showed positive amplification. The number of cells successfully hybridized in the environment-friendly fast group was lower than that in the traditional group, but the difference was not statistically significant (t = 1.414,P = 0.230). ConclusionsThe tissue treatment method of using environment-friendly sample release agent combined with ultrasound can ensure the detection effect of HE staining, IHC staining and MDM2 gene detection of pathological tissue sections, and is more efficient and environment-friendly, suitable for promotion and use in hospitals at all levels.
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<p><b>OBJECTIVE</b>To investigate the clinicopathologic features of calcium pyrophosphate dihydrate crystal deposition disease (CPPD-CDD).</p><p><b>METHODS</b>The clinical and pathologic profiles were retrospectively analysed in 20 cases of CPPD-CDD.</p><p><b>RESULTS</b>CPPD-CDD was far more common in women, most frequently involving joints, especially the knees and presenting with various arthrisis. Abnormally calcified and the articular damages were characteristic features by imageing. Histologically, multifocal indigo granular calcinosis was seen in synovium and sometimes appeared as needle-shaped or rhomboid crystals, which characterized the CPPD.</p><p><b>CONCLUSIONS</b>Though clinical symptoms of CPPD are quite variable, the definite diagnosis can be made by the abnormal calcification and joint damage radiographically and the indigo CPPD crystals histopathologically.</p>
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Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Condrocalcinosis , Diagnóstico por Imagen , Patología , Cirugía General , Estudios de Seguimiento , Articulación de la Cadera , Diagnóstico por Imagen , Patología , Cirugía General , Disco Intervertebral , Diagnóstico por Imagen , Patología , Cirugía General , Articulación de la Rodilla , Diagnóstico por Imagen , Patología , Cirugía General , Imagen por Resonancia Magnética , Estudios Retrospectivos , Enfermedades de la Columna Vertebral , Diagnóstico por Imagen , Patología , Cirugía General , Membrana Sinovial , Patología , Tomografía Computarizada por Rayos XRESUMEN
<p><b>OBJECTIVE</b>To study the clinicopathologic features and histogenesis of calcifying fibrous tumor (CFT).</p><p><b>METHODS</b>The clinical manifestations, histopathologic characteristics and immunophenotype were analyzed in 11 cases of CFT.</p><p><b>RESULTS</b>The male-to-female ratio was 5:6, with a mean age of 38 years and age range of 25 to 52 years. The sites of involvement included abdominopelvic cavity (n=6), soft tissue (n=4) and scrotum (n=1). Most patients presented with a gradually enlarging and painless mass. Nearly half of the cases were associated with other diseases or history of inflammation, trauma or surgical intervention. One third of the tumors represented incidental findings and showed no recurrence after resection. Imaging revealed a solitary solid soft tissue mass or multiple nodules with clear borders and associated high-density calcifications. Macroscopically, the tumors were well-circumscribed but non-encapsulated. They ranged from 0.5 to 20.0 cm in diameter and were tan-greyish, round to oval, lobulated or irregular and solid with rubbery consistency. The cut surface was whitish to tan-yellowish, gritty and showed scattered spotty yellowish discoloration corresponding to the foci of dystrophic calcifications. Histologically, CFT was composed of hyalinized fibrous tissue and thickened vessel walls with interspersed bland spindly fibroblastic cells, scattered psammomatous calcifications, dystrophic calcification and lymphoplasmacytic infiltration. In addition, focal cloak-like polymorph infiltration at the tumor periphery and entrapment of adipocytes and nerves were demonstrated in some cases. Foci resembling solitary fibrous tumor, fibromatosis, keloid or inflammatory myofibroblastic tumor were observed. Immunohistochemical study showed that the tumor cells were diffusely positive for vimentin and focally positive for CD34, factor VIII-related antigen and beta-catenin. The admixed plasma cells were notably IgG positive, with more than 50% being IgG4 positive.</p><p><b>CONCLUSIONS</b>CFT has characteristic histopathologic manifestations and shows morphologic and immunohistochemical overlaps with known IgG4-related sclerosing diseases. It is possible that CFT may represent another example of IgG4-related diseases. It often runs a benign clinical course, with rare recurrence after surgical resection. Previous inflammation and trauma may be the precipitating factors of CFT.</p>
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Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Abdominales , Metabolismo , Patología , Cirugía General , Antígenos CD34 , Metabolismo , Calcinosis , Metabolismo , Patología , Cirugía General , Estudios de Seguimiento , Neoplasias de los Genitales Masculinos , Metabolismo , Patología , Cirugía General , Inmunoglobulina G , Metabolismo , Hallazgos Incidentales , Neoplasias de Tejido Fibroso , Metabolismo , Patología , Cirugía General , Neoplasias Pélvicas , Metabolismo , Patología , Cirugía General , Estudios Retrospectivos , Escroto , Patología , Neoplasias de los Tejidos Blandos , Metabolismo , Patología , Cirugía General , Vimentina , Metabolismo , beta Catenina , Metabolismo , Factor de von Willebrand , MetabolismoRESUMEN
<p><b>OBJECTIVE</b>To investigate the clinicopathological features of multiple mucosal neuromas without multiple endocrine neoplasia type IIB (non-MEN-IIB MMN).</p><p><b>METHODS</b>Three cases of non-MEN-IIB MMNs were analyzed for the clinical manifestations and histopathological characteristics.</p><p><b>RESULTS</b>All the 3 cases were females, age ranging from 30 to 45 years. Two cases of them involved in the laryngopharyngeal mucosa and another one located in the left margin of the tongue. Clinically, non-MEN-IIB MMNs presented with uncertain foreign body sensation, itching, vomiting and causalgia in the laryngopharyngeal areas. Mucosal papular lesions were treated by laser ablation or local surgical excision. The cases were respectively followed up for 6 to 20 months and found nothing. Histological examination showed the lesions were not encapsulated and contained irregular tortuous nerve bundles with undefined perineurium in the lamina propria. There were no nuclear palisade. Immunophenotype showed tumor cells strongly positive for vimentin, S-100, myelin specific enolase, CD56, neurofilament and neuron specific enolase, uniformly negative to CD34, CD117 and epithelial membrane antigen.</p><p><b>CONCLUSIONS</b>Non-MEN-IIB MMN is a very rare disease and the possibility of MEN-IIB should be excluded before making diagnosis. The lesions located in the mucosal tissue with polyp-like or papular appearance, so they should be differentiated from other neoplasms or non-neoplastic lesions.</p>
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Adulto , Femenino , Humanos , Persona de Mediana Edad , Neoplasia Endocrina Múltiple Tipo 2b , Patología , Neuroma , PatologíaRESUMEN
<p><b>OBJECTIVE</b>To study the clinicopathologic features of lipomatosis of nerve (NLS).</p><p><b>METHODS</b>The clinical, radiologic and pathologic features were analyzed in 15 cases of NLS.</p><p><b>RESULTS</b>There were a total of 10 males and 5 females. The age of patients ranged from 4 to 42 years (mean age = 22.4 years). Eleven cases were located in the upper limbs and 4 cases in the lower limbs. The median nerve was the most common involved nerve. The patients typically presented before 30 years of age (often at birth or in early childhood) with a soft and slowly enlarging mass in the limb, with or without accompanying motor and sensory deficits. Some cases also had macrodactyly and carpal tunnel syndrome. MRI showed the presence of fatty tissue between nerve fascicles, resembling coaxial cable in axial plane and assuming a spaghetti-like appearance in coronal plane. On gross examination, the affected nerve was markedly increased in length and diameter. It consisted of a diffusely enlarged greyish-yellow lobulated fusiform beaded mass within the epineural sheath. Histologically, the epineurium was infiltrated by fibrofatty tissue which separated, surrounded and compressed the usually normal-appearing nerve fascicles, resulting in perineural septation of nerve fascicles and microfascicle formation. The infiltration sometimes resulted in concentric arrangement of perineural cells and pseudo-onion bulb-like hypertrophic changes. The perineurial cells might proliferate, with thickening of collagen fibers, degeneration and atrophic changes of nerve bundles. Immunohistochemical study showed that the nerve fibers expressed S-100 protein, neurofilament and CD56 (weak). The endothelial cells and dendritic fibers were highlighted by CD34. The intravascular smooth muscle cells were positive for muscle-specific actin.</p><p><b>CONCLUSIONS</b>NLS is a rare benign soft tissue tumor of peripheral nerve. The MRI findings are characteristic. A definitive diagnosis can be made with histologic examination of tissue biopsy.</p>
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Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Adulto Joven , Antígenos CD34 , Metabolismo , Antígeno CD56 , Metabolismo , Síndrome del Túnel Carpiano , Patología , Diagnóstico Diferencial , Extremidades , Deformidades Congénitas de la Mano , Patología , Lipoma , Patología , Lipomatosis , Diagnóstico , Metabolismo , Patología , Cirugía General , Imagen por Resonancia Magnética , Nervio Mediano , Metabolismo , Patología , Neoplasias de la Vaina del Nervio , Patología , Neurofibroma , Patología , Proteínas de Neurofilamentos , Metabolismo , Neuroma , Patología , Enfermedades del Sistema Nervioso Periférico , Diagnóstico , Metabolismo , Patología , Cirugía General , Neoplasias del Sistema Nervioso Periférico , Patología , Estudios Retrospectivos , Proteínas S100 , Metabolismo , Vimentina , MetabolismoRESUMEN
<p><b>OBJECTIVE</b>to study the clinicopathological features, imaging characteristics, immunophenotypes and differential diagnosis of giant cell angioblastoma (GCAB).</p><p><b>METHODS</b>a case of GCAB in the left middle-upper tibia and fibula was studied by light microscopy, X-ray and CT imaging, immunohistochemistry.</p><p><b>RESULTS</b>X-ray and CT imaging showed a clearer lesion in the left middle-upper tibia than in the ipsilateral fibula with enlarged ostealleosis and increased inhomogeneously medullary cavity density, irregular thickening of cortical bone, local cortical default at the inner edge, soft tissue swelling around the abnormal bone. Histologically, tumor tissue was located between the bone trabeculae by nodular, linear and plexiform aggregates of oval-to-spindle cells, large mononucleate cells and multinucleate giant cells with prominent nucleoli and abundant granular eosinophilic cytoplasm. Some aggregates had uncentain amount of discernible lumens, either empty or containing few erythrocytes. A concentric arrangement of oval-to-spindle Cells around small-caliber vascular structures together with collagen fiber contributed to a so-called 'onion-skin' arrangement. The background showed a loose mesenchymal stroma formed of some inconspicuous spindle-fibroblast-like cells, stellate-shape mesenchymal cells, a moderate mononuclear inflammatory cell infiltrate and scattered mast cells. Immunophenotype showed the tumor cells and giant cells strongly positive for vimentin. A good many oval-to-spindle cells stained markedly for CD31 and CD34, but weakly for FVIII, while the giant cells are highlighted instead by CD68, occasionally, very few giant cells showed positive focally for FVIII, a-SMA decorated notedly the cells surrounding the endothelium-like cells but weakly positive in some other tumor cells.</p><p><b>CONCLUSION</b>GCAB is a rare, locally infiltrative but slow growing neoplastic angiogenesis with unique morphological characteristics during infancy, which may occur not only in the skin, mucosa, subcutis and deep soft tissue but also in the bone.</p>