RESUMEN
Myxoinflammatory fibroblastic sarcoma (MIFS) is an infiltrative, locally aggressive fibroblastic neoplasm of intermediate malignancy that typically arises in the distal extremities of middle-aged adults. It can histologically be confused with a number of benign and malignant conditions. Recently, high-grade examples of MIFS have been described. Immunohistochemistry plays a very limited role in the diagnosis of MIFS. Several genetic alterations have been identified in MIFS, including a t(1;10)(p22;q24) translocation with TGFBR3 and/or OGA rearrangements, BRAF rearrangement, and VGLL3 amplification. Although it appears that VGLL3 amplification is the most consistent alteration, the molecular pathogenesis of MIFS remains poorly understood. A wide resection is considered the standard treatment for MIFS. Radiotherapy may be a viable option in cases with inadequate surgical margins or cases where surgery is likely to cause significant functional impairment. The systemic treatment options for advanced or metastatic disease are very limited. This review provides an updated overview of the clinicoradiological features, pathogenesis, histopathology, and treatment of MIFS.
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Fibrosarcoma , Neoplasias Cutáneas , Adulto , Persona de Mediana Edad , Humanos , Fibrosarcoma/etiología , Fibrosarcoma/genética , Administración Cutánea , Agresión , Extremidades , Factores de TranscripciónRESUMEN
Sperm motility-initiating substance (SMIS) is an oviductal protein critical for internal fertilization in urodeles. It contributes to the establishment of various reproductive modes in amphibians and is thus a unique research model for the gene evolution of gamete-recognizing ligands that have diversified among animal species. In this study, a paralogous SMIS gene, smis2, was identified via the RNA sequencing of the oviduct of the newt, Cynops pyrrhogaster. The base sequence of the smis2 gene was homologous (Ë90%) to that of the original smis gene (smis1), and deduced amino acid sequences of both genes conserved six cysteine residues essential for the cysteine knot motif. Furthermore, smis2 complementary DNA was identified in the oviduct of Cynops ensicauda, and the base substitution patterns also suggested that the smis gene was duplicated in the Salamandridae. Nonsynonymous/synonymous substitution ratios of smis1 and smis2 genes were 0.79 and 2.6, respectively, suggesting that smis2 gene evolution was independently driven by positive selection. Amino acid substitutions were concentrated in the cysteine knot motif of SMIS2. The smis2 gene was expressed in some organs in addition to the oviduct; in contrast, SMIS1 was only expressed in the oviduct. The SMIS2 protein was suggested to be produced and secreted at least in the oviduct and redundantly act in sperm. These results suggest that smis1 plays the original role in the oviduct, whereas smis2 may undergo neofunctionalization, which rarely occurs in gene evolution.
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Cisteína , Motilidad Espermática , Animales , Masculino , Motilidad Espermática/genética , Cisteína/metabolismo , Semen , Fertilización , Salamandridae/genética , Salamandridae/metabolismoRESUMEN
BACKGROUND: Cancer patients with advanced disease routinely exhaust available clinical regimens and lack actionable genomic medicine results, leaving a large patient population without effective treatments options when their disease inevitably progresses. To address the unmet clinical need for evidence-based therapy assignment when standard clinical approaches have failed, we have developed a probabilistic computational modeling approach which integrates molecular sequencing data with functional assay data to develop patient-specific combination cancer treatments. METHODS: Tissue taken from a murine model of alveolar rhabdomyosarcoma was used to perform single agent drug screening and DNA/RNA sequencing experiments; results integrated via our computational modeling approach identified a synergistic personalized two-drug combination. Cells derived from the primary murine tumor were allografted into mouse models and used to validate the personalized two-drug combination. Computational modeling of single agent drug screening and RNA sequencing of multiple heterogenous sites from a single patient's epithelioid sarcoma identified a personalized two-drug combination effective across all tumor regions. The heterogeneity-consensus combination was validated in a xenograft model derived from the patient's primary tumor. Cell cultures derived from human and canine undifferentiated pleomorphic sarcoma were assayed by drug screen; computational modeling identified a resistance-abrogating two-drug combination common to both cell cultures. This combination was validated in vitro via a cell regrowth assay. RESULTS: Our computational modeling approach addresses three major challenges in personalized cancer therapy: synergistic drug combination predictions (validated in vitro and in vivo in a genetically engineered murine cancer model), identification of unifying therapeutic targets to overcome intra-tumor heterogeneity (validated in vivo in a human cancer xenograft), and mitigation of cancer cell resistance and rewiring mechanisms (validated in vitro in a human and canine cancer model). CONCLUSIONS: These proof-of-concept studies support the use of an integrative functional approach to personalized combination therapy prediction for the population of high-risk cancer patients lacking viable clinical options and without actionable DNA sequencing-based therapy.
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Biología Computacional/métodos , Evaluación Preclínica de Medicamentos/métodos , Quimioterapia Combinada/métodos , Modelos Estadísticos , Medicina de Precisión/métodos , Rabdomiosarcoma Alveolar/tratamiento farmacológico , Animales , Línea Celular Tumoral , Modelos Animales de Enfermedad , Perros , Sinergismo Farmacológico , Femenino , Xenoinjertos , Humanos , Estimación de Kaplan-Meier , Ratones , Ratones Endogámicos NODRESUMEN
BACKGROUND: Pubic bone nonunion and delayed union are reported as post-operative complications after peri-acetabular osteotomy (PAO). However, few studies have determined the incidence of delayed union using computed tomography (CT) scans. This study aimed to determine the incidence of delayed union at one year after PAO using X-ray and CT scans. METHODS: We performed a retrospective review of 150 hips in 132 consecutive patients with acetabular dysplasia who underwent PAO between January 2012 and June 2016 and evaluated 107 hips for which pelvic CT scans taken at one year after PAO were available. Clinical evaluations included age at surgery, weight, body mass index (BMI) and history. Radiographic evaluations were to assess pubic, ischial and iliac delayed union at one year post-operatively. RESULTS: Based on X-ray analysis, the incidence of delayed union in the pubic, ischial and iliac bones was 11.2% (12 hips), 5.6% (6 hips) and 0% (0 hips), respectively, and20.6% (22 hips), 8.4% (9 hips) and 0% (0 hips), respectively, based on CT scans. CONCLUSION: The incidence of delayed union of the pubis and ischium at one year after PAO according to CT scans was higher than that based on X-ray imaging. CT scans are useful in patients with some symptoms at the osteotomy site. LEVEL OF EVIDENCE: Level III.
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Articulación de la Cadera/cirugía , Osteotomía/efectos adversos , Complicaciones Posoperatorias/epidemiología , Tomografía Computarizada por Rayos X/métodos , Acetábulo/diagnóstico por imagen , Acetábulo/cirugía , Adolescente , Adulto , Anciano , Femenino , Luxación Congénita de la Cadera/cirugía , Articulación de la Cadera/diagnóstico por imagen , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Osteotomía/métodos , Complicaciones Posoperatorias/diagnóstico por imagen , Hueso Púbico/diagnóstico por imagen , Hueso Púbico/fisiopatología , Estudios Retrospectivos , Cicatrización de Heridas/fisiología , Adulto JovenRESUMEN
Chondrolipoma is an extremely rare variant of lipoma with cartilaginous metaplasia. The presence of nonlipomatous components can lead to a variety of entities in the differential diagnosis from the radiologic findings. We describe an unusual case of a chondrolipoma occurring in the right ankle of a 9-year-old female. Physical examination showed a 3.5-cm, elastic-hard, poorly mobile, nontender mass adherent to the Achilles tendon. Plain radiographs revealed a faintly calcified soft tissue mass without bone involvement. Magnetic resonance imaging showed a well-defined mass with 2 components with heterogeneous signal intensity, suggesting the coexistence of a fatty area and another nonlipomatous component. Marginal excision of the tumor was performed. Histologically, the tumor was composed of mature adipose tissue studded with islands of mature hyaline cartilage. Based on these findings, the tumor was diagnosed as a chondrolipoma. The patient had no evidence of local recurrence within 9 months of follow-up. To the best of our knowledge, this is the first case of chondrolipoma originating from the ankle in a child.
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Condroma/patología , Lipoma/patología , Neoplasias de los Tejidos Blandos/patología , Articulación del Tobillo/diagnóstico por imagen , Articulación del Tobillo/patología , Articulación del Tobillo/cirugía , Biopsia con Aguja , Niño , Condroma/diagnóstico por imagen , Condroma/cirugía , Femenino , Estudios de Seguimiento , Humanos , Inmunohistoquímica , Lipoma/diagnóstico por imagen , Lipoma/cirugía , Imagen por Resonancia Magnética/métodos , Medición de Riesgo , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Neoplasias de los Tejidos Blandos/cirugía , Tomografía Computarizada por Rayos X/métodos , Resultado del TratamientoRESUMEN
Liposarcomas (LS) are the most common malignant mesenchymal tumors, with an overall long-term mortality rate of 60%. LS comprise three major subtypes, i.e., well-differentiated/dedifferentiated liposarcoma (WDLS/DDLS), myxoid/round cell liposarcoma (MLS) and pleomorphic liposarcoma (PLS). Aiming at the preclinical identification of novel therapeutic options, we here investigate the functional significance of SRC in primary human LS and in LS-derived cell lines. Immunohistochemical and Western blot analyses reveal relevant levels of activated p-(Tyr416)-SRC in LS of the different subtypes with particular activation in MLS and PLS. Dysregulation of the SRC modifiers CSK and PTP1B was excluded as major reason for the activation of the kinase. Consistent siRNA-mediated knockdown of SRC or inhibition by the SRC inhibitor Dasatinib led to decreased proliferation of LS cell lines of the different subtypes, with MLS cells reacting particularly sensitive in MTT assays. Flow cytometric analyses revealed that this effect was due to a significant decrease in mitotic activity and an induction of apoptosis. SRC inhibition by Dasatinib resulted in dephosphorylation of SRC itself, its interacting partners FAK and IGF-IR as well as its downstream target AKT. Consistent with a particular role of SRC in cell motility, Dasatinib reduced the migratory and invasive potential of MLS cells in Boyden chamber and Matrigel chamber assays. In summary, we provide evidence that SRC activation plays an important role in LS biology and therefore represents a potential therapeutic target, particularly in MLS and PLS.
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Liposarcoma Mixoide/tratamiento farmacológico , Liposarcoma/tratamiento farmacológico , Inhibidores de Proteínas Quinasas/farmacología , Familia-src Quinasas/antagonistas & inhibidores , Apoptosis/efectos de los fármacos , Proteína Tirosina Quinasa CSK , Línea Celular Tumoral , Movimiento Celular/efectos de los fármacos , Proliferación Celular/efectos de los fármacos , Quinasa 1 de Adhesión Focal/metabolismo , Humanos , Mitosis/efectos de los fármacos , Proteína Tirosina Fosfatasa no Receptora Tipo 1/metabolismo , Proteínas Proto-Oncogénicas c-akt/metabolismo , Receptor IGF Tipo 1 , Receptores de Somatomedina/metabolismoRESUMEN
Perineurioma is an uncommon benign peripheral nerve sheath tumor with advanced perineurial differentiation. Two distinct subtypes are recognized: intraneural and soft tissue. We herein present a unique case of soft tissue perineurioma in the right foot of a 43-year-old man. Radiographs showed a non-specific soft tissue mass. On computed tomography scan, the mass was iso- to slightly hypodense relative to muscle. On T1- and T2-weighted images, the mass exhibited iso- to slightly low signal intensity relative to muscle with foci of high signal intensity. Slight contrast enhancement was noted on enhanced T1-weighted images with fat suppression. A marginal excision of the tumor was performed and histopathologic examination confirmed the diagnosis of soft tissue perineurioma. The clinicopathologic, radiologic, and cytogenetic findings are described, and the relevant literature is reviewed.
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Cromosomas Humanos Par 10/genética , Enfermedades del Pie/genética , Enfermedades del Pie/patología , Neoplasias de la Vaina del Nervio/genética , Neoplasias de la Vaina del Nervio/patología , Neoplasias de los Tejidos Blandos/genética , Neoplasias de los Tejidos Blandos/patología , Adulto , Reordenamiento Génico/genética , Predisposición Genética a la Enfermedad/genética , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Estadística como AsuntoRESUMEN
BACKGROUND/AIM: Giant cell tumor of bone (GCTB) is a locally aggressive neoplasm that typically occurs in the ends (epiphyses) of long bones of young adults. Flat bones are uncommon sites of involvement. Herein, we describe an unusual case of pathologically proven GCT of the acromion. CASE REPORT: The patient was a 39-year-old woman with no history of trauma who presented with a 3-month history of right posterior shoulder pain. Physical examination revealed mild swelling and tenderness in the posterior aspect of the right shoulder. Plain radiograph showed a purely lytic lesion, suggestive of a bone tumor. Computed tomography demonstrated an intraosseous lytic lesion with associated cortical thinning and lack of periosteal reaction. On magnetic resonance imaging, the lesion exhibited slightly higher signal intensity compared to skeletal muscle on T1-weighted sequences and heterogeneous high signal intensity on T2-weighted sequences. Strong enhancement was observed following gadolinium administration. The lesion was treated by extensive curettage with adjuvant therapy comprising ethanol and the remaining cavity was filled with polymethylmethacrylate bone cement. Histologically, the lesion was composed of round or spindle-shaped mononuclear cells admixed with numerous osteoclast-like giant cells. Immunohistochemically, the mononuclear neoplastic cells were diffusely positive for H3.3 G34W. The patient was asymptomatic and there was no evidence of local recurrence or distant metastasis 5 months after surgery. CONCLUSION: Although rare, acromial GCTB should be considered in the differential diagnosis of posterior shoulder pain, especially in young and early middle-aged adults.
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Neoplasias Óseas , Tumor Óseo de Células Gigantes , Femenino , Persona de Mediana Edad , Adulto Joven , Humanos , Adulto , Acromion/diagnóstico por imagen , Acromion/cirugía , Acromion/patología , Dolor de Hombro/diagnóstico , Dolor de Hombro/etiología , Tumor Óseo de Células Gigantes/cirugía , Tumor Óseo de Células Gigantes/diagnóstico por imagen , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/patología , RadiografíaRESUMEN
Keratin-positive giant cell-rich tumor (KPGCT) is an extremely rare and recently described mesenchymal neoplasm that occurs in both soft tissue and bone, frequently found in young women. It has locally recurrent potential if incompletely excised but low risk for metastasis. KPGCT is histologically similar to conventional giant cell tumors of soft tissue but shows the presence of keratin-positive mononuclear cells. Interestingly, KPGCT also shares some morphological features with xanthogranulomatous epithelial tumors. These two tumors have recently been shown to harbor an HMGA2-NCOR2 fusion, arguing in favor of a single entity. Surgery is the treatment of choice for localized KPGCT. Therapeutic options for advanced or metastatic disease are unknown. This review provides an overview of the current knowledge on the clinical presentation, pathogenesis, histopathology, and treatment of KPGCT. In addition, we will discuss the differential diagnosis of this emerging entity.
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Giant cell tumor of soft tissue (GCTST) is a locally aggressive mesenchymal neoplasm of intermediate malignancy that predominantly occurs in the superficial soft tissue of the extremities. It is histologically similar to a giant cell tumor of bone (GCTB) and shows a mixture of round to oval mononuclear cells and osteoclast-like multinucleated giant cells. Currently, immunohistochemistry plays a very limited role in the diagnosis of GCTST. Primary or secondary malignant GCTST has recently been described and tumors exhibiting high-grade histological features demonstrate higher rates of distant metastasis. GCTST lacks the H3-3A gene mutations that are identified in the vast majority of GCTBs, suggesting a different pathogenesis. Surgery is the standard treatment for localized GCTST. Incomplete surgical resection is usually followed by local recurrence. Radiation therapy may be considered when the close proximity of critical structures prevents microscopically negative surgical margins. The systemic treatment options for advanced or metastatic disease are very limited. This review provides an updated overview of the clinicoradiological features, pathogenesis, histopathology, and treatment for GCTST. In addition, we will discuss the differential diagnosis of this peculiar neoplasm.
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BACKGROUND/AIM: Hybrid nerve sheath tumor (HNST) is a benign peripheral nerve sheath tumor with combined features of more than one histological type, such as schwannoma, neurofibroma, and perineurioma. It remains under-recognized in routine clinical practice. Herein, we describe an unusual case of intramuscular HNST of the thigh. CASE REPORT: The patient was a 41-year-old man with no history of trauma who presented with a 3-month history of a palpable mass in the right thigh. Physical examination revealed a 4-cm, elastic hard, mobile, nontender mass. Magnetic resonance imaging exhibited a well-circumscribed intramuscular mass with low-to-intermediate signal intensity on T1-weighted sequences and higher signal intensity peripherally and lower signal intensity centrally, representing a target sign, on T2-weighted sequences. Complete surgical excision of the tumor was carried out. Microscopically, the tumor showed dual histological components of both schwannoma and neurofibroma. Immunohistochemically, the schwannomatous component was strongly and diffusely positive for S-100 protein and negative for CD34, while the neurofibromatous component contained CD34-positive fibroblasts and S-100 protein-positive Schwann cells. Epithelial membrane antigen was negative for both components. These findings were consistent with a diagnosis of HNST (hybrid schwannoma/neurofibroma). The patient had no evidence of local recurrence and no neurological deficit at the final follow-up. CONCLUSION: Although extremely rare, HNST should be included in the extended differential diagnosis of a well-circumscribed, intramuscular soft-tissue mass in the extremities, particularly in young and early middle-aged adults.
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Neoplasias Encefálicas , Neoplasias de la Vaina del Nervio , Neurilemoma , Neurofibroma , Masculino , Adulto , Persona de Mediana Edad , Humanos , Muslo , Neoplasias de la Vaina del Nervio/diagnóstico , Neoplasias de la Vaina del Nervio/cirugía , Neoplasias de la Vaina del Nervio/patología , Neurilemoma/diagnóstico , Neurilemoma/cirugía , Neurilemoma/patología , Neurofibroma/patología , Proteínas S100RESUMEN
Myxofibrosarcoma (MFS) is one of the most common adult soft tissue sarcomas, typically arising in the extremities. Histologically, MFS is classified into three grades: low, intermediate, and high. Histological grades correlate with distant metastases and tumor-associated mortality. The diagnosis of MFS is challenging due to a lack of well-characterized immunohistochemical markers. High-grade MFS displays highly complex karyotypes with multiple copy number alterations. Recent integrated genomic studies have shown the predominance of somatic copy number aberrations. However, the molecular pathogenesis of high-grade MFS remains poorly understood. The standard treatment for localized MFS is surgical resection. The systemic treatment options for advanced disease are limited. This review provides an updated overview of the clinical and imaging features, pathogenesis, histopathology, and treatment of high-grade MFS.
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BACKGROUND/AIM: Superficial angiomyxoma (SAM) is a rare benign soft-tissue tumor that usually occurs in the trunk, head and neck, and lower extremity of middle-aged adults. Herein, we describe an unusual case of SAM of the wrist, which was initially diagnosed as a ganglion cyst on imaging. CASE REPORT: The patient was a 71-year-old man with no history of trauma who presented with a 2-year history of a palpable mass in the left wrist. Physical examination revealed a 2.5-cm, elastic hard, mobile, nontender mass. Magnetic resonance imaging revealed a well-defined mass with iso-signal intensity relative to skeletal muscle on T1-weighted sequences and very high signal intensity on T2-weighted fat-suppressed sequences. Subtle internal enhancement was seen following gadolinium administration. Complete excision was performed under general anesthesia with tourniquet control. Histologically, the lesion was composed of bland spindle to stellate-shaped cells in an abundant myxoid stroma. Immunohistochemically, the lesional cells were positive for CD34 but negative for S-100 protein, smooth-muscle actin, desmin, epithelial membrane antigen and pancytokeratin. These findings were consistent with a diagnosis of SAM. There was no clinical evidence of recurrence during a follow-up period of 3 months. CONCLUSION: Although extremely rare, SAM should be considered in the differential diagnosis of a cyst-like solid lesion near small joints.
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Mixoma , Neoplasias de los Tejidos Blandos , Masculino , Persona de Mediana Edad , Adulto , Humanos , Anciano , Muñeca/patología , Neoplasias de los Tejidos Blandos/diagnóstico , Neoplasias de los Tejidos Blandos/cirugía , Neoplasias de los Tejidos Blandos/patología , Diagnóstico Diferencial , Mixoma/diagnóstico , Mixoma/cirugía , Mixoma/metabolismo , Imagen por Resonancia MagnéticaRESUMEN
Adipocytic neoplasms are frequently encountered in clinical practice. Atypical lipomatous tumor (ALT) is a locally aggressive but non-metastasizing adipocytic neoplasm that primarily occurs in the proximal extremities of middle-aged to older adults. Histologically, ALT is divided into adipocytic (lipoma-like), sclerosing and inflammatory subtypes. The sclerosing subtype is an unfavorable prognostic factor for local recurrence. ALT is characterized by supernumerary ring and/or giant rod chromosomes. These rings and giant markers invariably contain amplified sequences originating from the long arm of chromosome 12, including the MDM2 proto-oncogene (MDM2) and cyclin-dependent kinase 4 (CDK4) gene. MDM2 and/or CDK4 nuclear immunopositivity is present in most cases. Confidently differentiating deep-seated ALT from deep-seated ordinary lipoma is often difficult on imaging. Moreover, the sclerosing subtype may mimic a higher grade liposarcoma. Detection of MDM2 amplification by fluorescence in situ hybridization would be helpful diagnostically for ALT in more difficult cases. The standard treatment for deep-seated ALT is surgery. Although there is no consensus on the best surgical approach for deep-seated ALT of the extremities, the use of marginal resection is acceptable to preserve musculoskeletal function. This review provides an overview of the current knowledge on the clinical and imaging characteristics, pathogenesis, histopathology, and management of deep-seated ALT of the extremities.
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Lipoma , Liposarcoma , Persona de Mediana Edad , Humanos , Anciano , Hibridación Fluorescente in Situ , Proteínas Proto-Oncogénicas c-mdm2/genética , Biomarcadores de Tumor/genética , Liposarcoma/diagnóstico , Liposarcoma/genética , Liposarcoma/cirugía , Lipoma/diagnóstico , Lipoma/genética , Lipoma/cirugía , Extremidades/patología , BiologíaRESUMEN
Myxofibrosarcoma (MFS) is a fibroblastic/myofibroblastic neoplasm with a variably myxoid stroma. Histologically, MFS shows a wide spectrum of cellularity, pleomorphism and proliferative activity. Because of its variable morphology and lack of discriminatory markers, MFS can be difficult to distinguish from some benign soft-tissue tumors, especially nodular fasciitis (NF). Glucose transporter 1 (GLUT-1) is expressed in a variety of malignant mesenchymal tumors. In the current study, we evaluated GLUT-1 expression to determine its value in distinguishing MFS from NF. Tissue specimens from 14 MFS cases and 16 NF cases were sectioned and stained for GLUT-1 using immunohistochemistry. The percentage of GLUT-1-positive cells was scored as follows: 0 (no staining), 1+ (1-19%), 2+ (20-50%) and 3+ (>50%). Samples with a score of 1+ were defined as GLUT1-expressing samples. GLUT-1 expression was seen in all 14 MFS cases, whereas only 6 NF cases (37.5%) were positive for GLUT-1 and were scored 1+. Notably, 2-3+ GLUT-1 expression was found in 86% of MFS cases and 0% of NF cases. Our results indicate that GLUT-1 is a highly sensitive immunohistochemical marker for MFS and may be useful for the differential diagnosis of MFS and NF.
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Fascitis , Fibrosarcoma , Sarcoma , Neoplasias de los Tejidos Blandos , Adulto , Humanos , Fibrosarcoma/diagnóstico , Fibrosarcoma/patología , Sarcoma/patología , Neoplasias de los Tejidos Blandos/patología , Inmunohistoquímica , Fascitis/diagnóstico , Fascitis/patología , Diagnóstico Diferencial , Biomarcadores de Tumor/metabolismoRESUMEN
Angioleiomyoma is a benign, pericytic (perivascular) neoplasm that primarily occurs in the subcutis or dermis of the extremities. The lesion typically presents as a small, firm, slow-growing, painful nodule. Magnetic resonance imaging reveals the lesion to be a well-defined, round to oval mass with signal intensity similar to or slightly hyperintense to that of skeletal muscle on T1-weightwed sequences. A dark reticular sign on T2-weighted sequences appears to be a characteristic feature of angioleiomyoma. Prominent enhancement is usually seen after intravenous contrast. Histologically, the lesion consists of well-differentiated smooth muscle cells with many vascular channels. Based on vascular morphologies, angioleiomyoma is classified into three subtypes: solid, venous, and cavernous. By immunohistochemistry, angioleiomyoma is diffusely positive for smooth muscle actin and calponin and variably for h-caldesmon and desmin. Conventional cytogenetic studies have demonstrated relatively simple karyotypes characterized by one or few structural rearrangements or numerical aberrations. In addition, metaphase comparative genomic hybridization analyses have revealed recurrent loss of 22q and gain of Xq. Angioleiomyoma can be successfully treated with simple excision, with a very low recurrence rate. Knowledge of this peculiar neoplasm is important because it can mimic a variety of benign and malignant soft-tissue tumors. This review provides an updated overview of the clinical, radiological, histopathological, cytogenetic, and molecular genetic features of angioleiomyoma.
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Spindle cell lipoma (SCL) is a benign adipocytic tumor that primarily occurs in the subcutis of the posterior neck, upper back, and shoulder, particularly of middle-aged males. SCL and pleomorphic lipoma (PL) represent a morphological spectrum of one disease process. The lesion typically presents as a relatively small (<5 cm), mobile, slow-growing, painless mass. Magnetic resonance imaging reveals the lesion to be a well-defined subcutaneous mass with a mixture of adipose and non-adipose components. Intense enhancement of the non-adipose component is seen after contrast administration. Histologically, SCL is composed of variable distributions of mature adipocytes, bland spindle cells and ropey collagen bundles and PL also contains pleomorphic and multinucleated floret-like giant cells. By immunohistochemistry, the spindle and pleomorphic/floret-like giant cells of SCL/PL are diffusely positive for CD34 and show loss of nuclear RB transcriptional corepressor 1 (RB1) expression. Recent cytogenetic and molecular genetic studies have shown heterozygous deletions of 13q14, including the RB1 gene. SCL/PL can be successfully treated with simple excision, with a very low recurrence rate. Knowledge of these peculiar tumors is important because it can mimic a variety of benign and malignant soft-tissue tumors. This review provides an updated overview of the clinical, radiological, histopathological, cytogenetic, and molecular genetic features of SCL/PL.
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Intramuscular myxoma is a rare benign soft tissue tumor which may be mistaken for other benign and low-grade malignant myxoid neoplasms. We present the case of a 63-year-old woman with an asymptomatic intramuscular myxoma discovered incidentally on a whole-body F-18 fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography. PET images showed a mild FDG uptake (maximum standardized uptake value, 1.78) in the left gluteus maximus. Subsequent magnetic resonance (MR) imaging revealed a well-defined ovoid mass with homogenous low signal intensity on T1-weighted sequences and markedly high signal intensity on T2-weighted sequences. Contrast-enhanced MR images showed heterogeneous enhancement throughout the mass. The diagnosis of intramuscular myxoma was confirmed on histopathology after surgical excision of the tumor. The patient had no local recurrence at one year follow-up. Our case suggests that intramuscular myxoma should be considered in the differential diagnosis of an oval-shaped intramuscular soft tissue mass with a mild FDG uptake.
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Fluorodesoxiglucosa F18 , Imagen por Resonancia Magnética , Neoplasias de los Músculos/diagnóstico , Mixoma/diagnóstico , Tomografía de Emisión de Positrones , Tomografía Computarizada por Rayos X , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , RadiofármacosRESUMEN
We describe a case of intra-articular osteoid osteoma arising in the radial styloid of a 21-year-old man. Plain radiographs were not diagnostic, but computed tomography, gadolinium-enhanced magnetic resonance imaging, and bone scintigraphy suggested the possibility of an osteoid osteoma. We arthroscopically removed the lesion; histological examination confirmed the diagnosis. The patient's symptoms disappeared immediately after surgery.
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Artroscopía/métodos , Neoplasias Óseas/cirugía , Osteoma Osteoide/cirugía , Radio (Anatomía)/cirugía , Articulación de la Muñeca/cirugía , Neoplasias Óseas/diagnóstico , Neoplasias Óseas/patología , Estudios de Seguimiento , Gadolinio , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Osteoma Osteoide/diagnóstico , Osteoma Osteoide/patología , Radio (Anatomía)/patología , Rango del Movimiento Articular/fisiología , Medición de Riesgo , Tomografía Computarizada por Rayos X/métodos , Resultado del Tratamiento , Articulación de la Muñeca/diagnóstico por imagen , Articulación de la Muñeca/patología , Adulto JovenRESUMEN
BACKGROUND: Elastofibroma typically occurs in the subscapular region of elderly individuals and has a high incidence in Kyushu and the surrounding islands in southern Japan. The treatment of this lesion is somewhat controversial. PATIENTS AND METHODS: Eleven patients with a diagnosis of elastofibroma dorsi were identified from the unit's database. The clinical presentation, diagnosis, and treatment options were evaluated. RESULTS: There were 6 men and 5 women, with a mean age of 66.7 years (range, 49-82 years). Bilateral lesions were found in 2 patients. The mean lesion size was 6.6 cm in greatest dimension (range, 5-9 cm). The mean follow-up of both surgically and conservatively managed patients was 16.4 months (range, 2-69 months). All were diagnosed by magnetic resonance imaging, and early in the series, 1 also underwent an open biopsy to confirm the diagnosis. Five patients underwent marginal excision of the lesion. No recurrence was observed at last follow-up. CONCLUSIONS: Magnetic resonance imaging can be used as a first-line investigation of the lesion, and biopsy is not necessary in most cases. We suggest that a conservative "wait-and-watch" attitude is reasonable and may be considered even when patients are symptomatic.