RESUMO
Histiocyte-rich rhabdomyoblastic tumor is a recently described skeletal muscle neoplasm of uncertain malignant potential, characterized by slow growth, a fibrous capsule containing peripheral lymphoid aggregates, spindle-to-epithelioid cells with a rhabdomyoblastic immunophenotype, and a dense histiocytic infiltrate. It most commonly arises within the muscles of the lower legs and trunk in young-to-middle-aged men, and initial reports suggest indolent behavior. In this paper, we present two additional cases of histiocyte-rich rhabdomyoblastic tumor with similar clinicopathologic features and discuss the differential diagnosis including its overlap with inflammatory leiomyosarcoma.
Assuntos
Histiócitos/patologia , Neoplasias Musculares/patologia , Rabdomioma/patologia , Adulto , Biomarcadores Tumorais/análise , Biópsia com Agulha de Grande Calibre , Diagnóstico Diferencial , Histiócitos/química , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/cirurgia , Valor Preditivo dos Testes , Rabdomioma/química , Rabdomioma/cirurgiaRESUMO
BACKGROUND: Intramuscular / cellular myxomas and low-grade myxofibrosarcomas are two different tumor entities with a significant histological overlap, especially if dealing with small biopsies. Despite the morphological similarities, they differ considerably in their biological behaviour. Intramuscular / cellular myxoma rarely shows signs of recurrence and never metastasizes, in contrast to myxofibrosarcoma that tends to recur more aggressively and to metastasize haematologically. Therefore, it is of great importance to distinguish these lesions - evaluation of GNAS mutation status could be of tremendous help. METHODS: We reviewed 13 cases with intramuscular / cellular myxomas. The 13 cases included 5 men and 8 women, aged from 33 to 71 years (mean age 55.5 years). Immunohistochemistry was performed as well as next generation sequencing. Ten cases were located in the lower extremities and three cases were located in the upper extremities. Two lesions were initially misdiagnosed as a low-grade myxofibrosarcoma. RESULTS: Performing next generation sequencing 12 out of 13 specimens showed a GNAS mutation. CONCLUSIONS: Our findings demonstrate that GNAS mutations are more common in intramuscular / cellular myxomas, than had been reported in literature in the past. Next generation sequencing for determining GNAS mutation status on small biopsies or diagnostically challenging cases facilitates the diagnosis of intramuscular / cellular myxoma and separates this tumor entity from its mimics.
Assuntos
Biomarcadores Tumorais/genética , Cromograninas/genética , Análise Mutacional de DNA/métodos , Fibrossarcoma/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Sequenciamento de Nucleotídeos em Larga Escala , Neoplasias Musculares/genética , Mutação , Mixoma/genética , Adulto , Idoso , Biomarcadores Tumorais/análise , Biópsia , Diagnóstico Diferencial , Feminino , Fibrossarcoma/química , Fibrossarcoma/classificação , Fibrossarcoma/patologia , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/classificação , Neoplasias Musculares/patologia , Mixoma/química , Mixoma/classificação , Mixoma/patologia , Gradação de Tumores , Fenótipo , Valor Preditivo dos TestesRESUMO
Objective: To investigate the clinicopathologic characteristics, immunophenotype, differential and diagnostic features of atypical spindle cell lipomatous tumor (ASLT). Methods: Three cases of ASLT were collected from January 2010 to March 2017 at Zhejiang Provincial People's Hospital. The clinical and imaging features, histomorphology, immunophenotype and prognosis were analyzed. Fluorescence in situ hybridization (FISH) was used to detect MDM2 gene amplification, and relevant literature was reviewed. Results: All three patients were adult males, aged 38, 43 and 54 years, respectively. One tumor originated in the subcutaneous soft tissue in the head and neck, one was located in the left primary bronchus and one in the latissimus dorsi muscle. Grossly, all three tumors were circumscribed and ranged from 4.0 to 5.8 cm in size. Microscopically, all showed a focally infiltrative front. These tumors were composed of variable proportions of spindle-shaped and adipocytic cells in a background of variable fibrous and edematous matrix. Scattered lipoblasts were easily seen. One tumor was composed predominately of spindle tumor cells, one of adipocytic cells, and one of equally mixed cell populations. The spindle tumor cells were generally bland-appearing with focal nuclear enlargement and hyperchromasia noted in one case. Mitosis was not seen in neither the spindle cells nor the adipocytic cells. By immunohistochemistry, diffuse and strong reactivity to CD34 of the spindle cells was noted in all cases, definite loss of Rb expression was noted in one of three cases, and S-100 protein was expressed only in the adipocytic cells. INI-1 was intact and Ki-67 index was 1% to 3%. All other markers including CDK4, MDM2, STAT6, SOX10, CD99, bcl-2, ß-catenin, CD117, GFAP, CK, EMA, SMA and desmin were negative. FISH of MDM2 was done in two cases, and both showed no amplification. The ASLT in the head and neck had two recurrences during 17 months of follow-up, whereas the tumor in the latissimus dorsi was free of disease during 33 months of follow-up. Conclusions: ASLT is a rare subtype of low-grade adipocytic neoplasm and is distinctive from atypical lipomatous tumor/well-differentiated liposarcoma. The histomorpholgy of ASLT has significant heterogeneity and forms a continuous spectrum. ASLT needs to be distinguished from a series of benign and malignant soft tissue tumors.
Assuntos
Neoplasias Brônquicas/patologia , Neoplasias de Cabeça e Pescoço/patologia , Lipoma/patologia , Neoplasias Musculares/patologia , Adulto , Neoplasias Brônquicas/química , Neoplasias de Cabeça e Pescoço/química , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Lipoma/química , Lipossarcoma/química , Lipossarcoma/patologia , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Recidiva Local de Neoplasia , Proteínas S100/análise , Fator de Transcrição STAT6/análise , Músculos Superficiais do Dorso , beta Catenina/análiseRESUMO
Pseudomyogenic hemangioendothelioma, also called epithelioid sarcoma-like hemangioendothelioma, is a rare, vascular neoplasm usually with indolent behaviour. It was introduced in the latest World Health Organization (WHO) Classification of Tumours of Soft Tissue. We report a case of a 45 year-old patient presenting with a localized, palpable and slightly painful lesion in the left arm. Histologically it consisted of fascicles of spindle and epithelioid cells with ample eosinophilic cytoplasm, without nuclear pleomorphism or significant mitotic activity. Tumour cells showed diffuse expression for cytokeratin AE1/AE3, CD31 and FLI1, intact expression for INI1 and negativity for CD34. We describe the clinical, histological, molecular and immunohistochemical features of pseudomyogenic hemangioendothelioma and review the pertinent literature.
Assuntos
Hemangioendotelioma/patologia , Neoplasias Musculares/patologia , Biomarcadores Tumorais/análise , Citoplasma/patologia , Cotovelo , Feminino , Hemangioendotelioma/química , Hemangioendotelioma/diagnóstico , Humanos , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/diagnóstico , Proteínas de Neoplasias/análise , Infiltração de NeutrófilosRESUMO
BACKGROUND: The incidence of skeletal muscle metastasis from oesophageal cancer is very low, and the treatment strategy has not been established. CASE REPORT: A 77-year-old man underwent oesophagectomy following neoadjuvant chemotherapy for oesophageal squamous cell carcinoma (CT-pT3 N0 M0, CT-pStage II). Fourteen months after surgery, he became aware of a subcutaneous tumour in his left forearm. Computed tomography and fluorodeoxyglucose positron-emission tomography revealed a 65×75 mm intramuscular nodular lesion with a standardized uptake value of 8.5. Further examination by biopsy strongly suggested this was a solitary metastasis from oesophageal cancer. The patient received chemoradiotherapy with two cycles of 5-fluorouracil combined with cisplatin and radiation. Clinical complete response was confirmed by imaging 7 months after chemoradiation and no recurrence has occurred at 20 months since chemoradiation. CONCLUSION: Radiotherapy or chemoradiotherapy can be an alternative locoregional therapy to surgery for solitary skeletal muscle metastasis.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimiorradioterapia , Neoplasias Esofágicas/patologia , Neoplasias Musculares/secundário , Neoplasias Musculares/terapia , Músculo Esquelético/patologia , Neoplasias de Células Escamosas/secundário , Neoplasias de Células Escamosas/terapia , Idoso , Biomarcadores Tumorais/análise , Biópsia , Carcinoma de Células Escamosas , Cisplatino/administração & dosagem , Carcinoma de Células Escamosas do Esôfago , Fluoruracila/administração & dosagem , Antebraço , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Neoplasias Musculares/química , Músculo Esquelético/química , Estadiamento de Neoplasias , Neoplasias de Células Escamosas/química , Tomografia por Emissão de Pósitrons , Fatores de Tempo , Resultado do TratamentoRESUMO
Cellular myofibroblastic tumors other than desmoid-type fibromatosis are often diagnostically challenging due to their relative rarity, lack of known genetic abnormalities, and expression of muscle markers which may be confused with sarcomas with myogenic differentiation. In this study we investigate the molecular alterations of a group of cellular myofibroblastic lesions with in the myofibroma and myopericytoma spectrum for better subclassification. Two index cases were studied by paired-end RNA sequencing for potential fusion gene discovery. One chest wall soft tissue tumor in a 3-month-old girl case showed a SRF-C3orf62 fusion, while the other, a forearm lesion in an 8-year-old girl, showed a SRF-RELA fusion. Further screening of 42 cellular examples of myofibroma/myopericytoma by fluorescence in situ hybridization identified additional 8 cases with recurrent SRF gene rearrangements, 6 of them showing identical SRF-RELA fusions. The cohort was composed of 7 females and 3 males, with a wide age range of 3 months to 63 years (mean=17). All tumors showed a densely packed growth of oval to spindle cells with fibrillary eosinophilic cytoplasm, arranged either in intersecting fascicles or with a distinct nested pattern around a rich vascular network. Despite the dense cellularity and variable mitotic activity none of the lesions displayed nuclear pleomorphism or necrosis. All tumors showed coexpression for SMA and desmin, in most cases with a strong and diffuse pattern of staining, while myogenin was consistently negative. No distant metastases were seen in the few cases with follow-up information. A control group of 34 well-characterized myofibroblastic and perivascular tumors, including 10 typical myofibromas and 3 myopericytomas, were also investigated for SRF gene abnormalities by fluorescence in situ hybridization and were negative. In summary, we report a subset of cellular variants of myofibroma and myopericytoma showing a smooth muscle-like immunophenotype and harboring recurrent SRF-RELA gene fusions, which mimic sarcomas with myogenic differentiation.
Assuntos
Biomarcadores Tumorais/genética , Diferenciação Celular , Fusão Gênica , Desenvolvimento Muscular , Neoplasias Musculares/genética , Músculo Esquelético/patologia , Miofibroblastos/patologia , Miofibroma/genética , Sarcoma/genética , Fator de Resposta Sérica/genética , Fator de Transcrição RelA/genética , Adolescente , Adulto , Biomarcadores Tumorais/análise , Biópsia , Criança , Pré-Escolar , Feminino , Rearranjo Gênico , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Lactente , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/patologia , Músculo Esquelético/química , Miofibroblastos/química , Miofibroma/química , Miofibroma/patologia , Fenótipo , Sarcoma/química , Sarcoma/patologia , Análise de Sequência de RNARESUMO
Perineuriomas are rare peripheral nerve sheath tumors arising from or differentiating along the lines of normal perineurial cells. They can be divided into intraneural and soft tissue types, with the latter category including a significant number of morphological variants. Herein, we further expand their morphological spectrum to include "pseudolipoblastic" perineuriomas. These lesions occurred in the tongue of a 30-year-old man and in the triceps of a 67-year-old woman and were characterized by bland, epithelioid cells with striking intracytoplasmic vacuolization. The architecture varied, with some areas showing a striking "net-like" or "microreticular" pattern and smaller areas having a more typical spindled and whorled appearance. Clinical follow-up (5months and 52months, respectively) showed no evidence of local recurrence or metastasis. Multiple perineurial markers, including epithelial membrane antigen, claudin-1, GLUT-1, and collagen IV, were diffusely positive. Both cases were submitted in consultation out of concern that they represented high-grade liposarcomas. To the best of our knowledge, this unusual morphological variant of perineurioma has not been reported. These tumors appear to be entirely benign and should be cured with simple excision. Pseudolipoblastic perineuriomas should be distinguished from round cell and epithelioid pleomorphic liposarcomas, as well as from other tumors that may show prominent intracytoplasmic vacuolization.
Assuntos
Lipossarcoma/patologia , Neoplasias Musculares/patologia , Neoplasias de Bainha Neural/patologia , Neoplasias da Língua/patologia , Adulto , Idoso , Biomarcadores Tumorais/análise , Biópsia , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Neoplasias Musculares/química , Neoplasias Musculares/cirurgia , Neoplasias de Bainha Neural/química , Neoplasias de Bainha Neural/cirurgia , Valor Preditivo dos Testes , Neoplasias da Língua/química , Neoplasias da Língua/cirurgia , Resultado do TratamentoRESUMO
Histiocytic sarcoma is rare and difficult to distinguish from histologic mimics such as myeloid sarcoma due to its relatively nonspecific immunoprofile. A subset of histiocytic sarcomas are clonally related to synchronous or metachronous follicular lymphomas. Interestingly, the histiocytic tumor component has been shown to harbor BCL2 gene translocations that are identical to those found in the lymphoma. We present one case of histiocytic sarcoma and initially occult follicular lymphoma in which detection of a BCL2 gene translocation helped support the diagnosis. We also provide follow-up regarding a previously published case of histiocytic sarcoma with IGH/BCL2 fusion gene in which the patient subsequently developed follicular lymphoma and, later, diffuse large B-cell lymphoma. Our findings suggest that BCL2 gene translocations are a recurrent feature of a distinct subset of histiocytic sarcomas that are associated with follicular lymphoma; the follicular lymphoma component may be clinically occult at the time of diagnosis. Testing for an IGH/BCL2 translocation should be considered in the diagnostic workup of difficult-to-characterize neoplasms with histiocytic/monocytic morphology and immunoprofile.
Assuntos
Biomarcadores Tumorais/genética , Neoplasias da Medula Óssea/genética , Sarcoma Histiocítico/genética , Neoplasias Hepáticas/genética , Linfoma Folicular/genética , Neoplasias Musculares/genética , Proteínas Proto-Oncogênicas c-bcl-2/genética , Translocação Genética , Idoso , Biópsia , Exame de Medula Óssea , Neoplasias da Medula Óssea/química , Neoplasias da Medula Óssea/patologia , Neoplasias da Medula Óssea/terapia , Feminino , Fusão Gênica , Genes de Cadeia Pesada de Imunoglobulina , Predisposição Genética para Doença , Sarcoma Histiocítico/patologia , Sarcoma Histiocítico/terapia , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Neoplasias Hepáticas/química , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/terapia , Linfoma Folicular/química , Linfoma Folicular/patologia , Linfoma Folicular/terapia , Linfoma Difuso de Grandes Células B/química , Linfoma Difuso de Grandes Células B/genética , Linfoma Difuso de Grandes Células B/patologia , Linfoma Difuso de Grandes Células B/terapia , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/patologia , Neoplasias Musculares/terapia , Fenótipo , Prognóstico , Fatores de TempoAssuntos
Cordoma/terapia , Laminectomia , Neoplasias Musculares/terapia , Músculo Quadríceps , Sacro , Neoplasias da Medula Espinal/terapia , Neoplasias da Coluna Vertebral/radioterapia , Vértebras Torácicas , Biomarcadores Tumorais/análise , Biópsia , Cordoma/química , Cordoma/secundário , Progressão da Doença , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/secundário , Invasividade Neoplásica , Cuidados Paliativos , Medicina de Precisão , Valor Preditivo dos Testes , Músculo Quadríceps/química , Músculo Quadríceps/patologia , Músculo Quadríceps/efeitos da radiação , Músculo Quadríceps/cirurgia , Radioterapia Adjuvante , Reoperação , Sacro/patologia , Sacro/efeitos da radiação , Sacro/cirurgia , Neoplasias da Medula Espinal/química , Neoplasias da Medula Espinal/secundário , Neoplasias da Coluna Vertebral/química , Neoplasias da Coluna Vertebral/patologia , Vértebras Torácicas/patologia , Vértebras Torácicas/efeitos da radiação , Vértebras Torácicas/cirurgia , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
The histologic features and outcome of 58 cases of epithelioid schwannoma were studied to determine the significance of atypical histologic features. Cases were retrieved from personal consultation files from 1999 to 2013. Patients (31 male and 26 female patients) ranged in age from 14 to 80 years (median, 38 y). Two patients had schwannomatosis 1. Tumors developed in the dermis/subcutis (n=56) or muscle (n=2) of the upper extremity (34.5%), lower extremity (34.5%), thorax/abdomen/back (18%), and less common anatomic locations including the scalp, neck, lip, and breast. They ranged in size from 0.25 to 4.5 cm (median, 2.0 cm). Typically circumscribed and surrounded by a perineurium, they comprised single or small groups of epithelioid schwann cells with a moderate amphophilic cytoplasm and occasional nuclear pseudoinclusions. Stroma varied from myxoid to hyalinized, often with thick-walled vessels (55 cases). Mitotic rate ranged from 0 to 9 mitoses/10 high-power field (HPF) (2.37 mm) in the most active areas (mean, 2 to 3 mitoses/10 HPFs). Thirteen cases (22%) were "atypical," defined by a high mitotic rate (≥3 mitoses per 10 HPFs) and nuclear size variation (≥3:1). All (56/56) expressed S100 protein; type IV collagen invested groups or individual cells (16/17). Melanoma markers were negative, except for melan A (1 case). Follow-up in 39 patients (median, 78 mo; range, 6 to 174 mo) indicated that 31 (79%) were alive without disease (including 9/13 atypical cases; median, 78 mo), 7 (18%) were alive with unknown status, and 1 patient had died of unrelated causes. One tumor recurred, but none metastasized. Epithelioid schwannomas, even those with atypical features, are benign and do not constitute a histologic continuum with epithelioid malignant peripheral nerve sheath tumors, which typically occur in deep soft tissues and have more anaplastic features.
Assuntos
Células Epitelioides/patologia , Neoplasias Musculares/patologia , Neurilemoma/patologia , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Biópsia , Intervalo Livre de Doença , Células Epitelioides/química , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Mitose , Índice Mitótico , Neoplasias Musculares/química , Neoplasias Musculares/terapia , Recidiva Local de Neoplasia , Neurilemoma/química , Neurilemoma/terapia , Neoplasias Cutâneas/química , Neoplasias Cutâneas/terapia , Células Estromais/patologia , Resultado do Tratamento , Carga Tumoral , Adulto JovemRESUMO
Dendritic fibromyxolipoma is an uncommon benign soft tissue tumor. Here, we report a case in a 53-year-old man presenting a painless mass located deep in the latissimus dorsi of the right back. Microscopically, the tumor was mainly consisted of small spindle and stellate cells, abundant myxoid stroma, collagen bundles and mature adipose tissue. Immunohistochemical study showed the spindle and stellate cells were positive for CD34, Bcl-2 and Vimentim, but not for Keratin, EMA, SMA and Desmin. To date, one year after operation, the patient is well without evidence of recurrence or metastasis. The implication of this report is to provide insights into further understanding of this rare tumor with review of the literature.
Assuntos
Fibroma/patologia , Lipoma/patologia , Neoplasias Musculares/patologia , Tumores Fibrosos Solitários/patologia , Músculos Superficiais do Dorso/patologia , Biomarcadores Tumorais/análise , Biópsia , Fibroma/química , Fibroma/cirurgia , Humanos , Imuno-Histoquímica , Lipoma/química , Lipoma/cirurgia , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/cirurgia , Tumores Fibrosos Solitários/química , Tumores Fibrosos Solitários/cirurgia , Resultado do TratamentoRESUMO
Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract that are most commonly found in the stomach. Although GISTs can spread to the liver and peritoneum, metastasis to the skeletal muscle is very rare and only four cases have previously been reported. These cases involved concurrent skeletal metastases of primary GISTs or liver metastases. Here, we report the first case of a distant recurrence in the brachialis muscle after complete remission of an extra-luminal gastric GIST following a wedge resection of the stomach, omental excision, and adjuvant imatinib therapy for one year. Ten months after therapy completion, the patient presented with swelling and tenderness in the left arm. Magnetic resonance imaging revealed a large mass in the brachialis muscle, which showed positivity for c-kit and CD34 upon pathologic examination. This is the first reported case of a solitary distant recurrence of a GIST in the muscle after complete remission had been achieved.
Assuntos
Tumores do Estroma Gastrointestinal/secundário , Neoplasias Musculares/secundário , Músculo Esquelético/patologia , Neoplasias Gástricas/patologia , Idoso de 80 Anos ou mais , Antígenos CD34/análise , Biomarcadores Tumorais/análise , Biópsia , Feminino , Tumores do Estroma Gastrointestinal/química , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Neoplasias Musculares/química , Neoplasias Musculares/tratamento farmacológico , Músculo Esquelético/química , Tomografia por Emissão de Pósitrons , Proteínas Proto-Oncogênicas c-kit/análise , Neoplasias Gástricas/química , Neoplasias Gástricas/cirurgia , Fatores de Tempo , Resultado do Tratamento , Carga Tumoral , Extremidade SuperiorAssuntos
Neoplasias Musculares/diagnóstico por imagem , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Neoplasias Torácicas/diagnóstico por imagem , Idoso , Biomarcadores Tumorais , Diagnóstico Diferencial , Radioisótopos de Flúor , Fluordesoxiglucose F18 , Humanos , Achados Incidentais , Perna (Membro) , Masculino , Neoplasias Musculares/química , Neoplasias Musculares/patologia , Neoplasias Primárias Múltiplas/química , Neoplasias Primárias Múltiplas/patologia , Neurilemoma/química , Neurilemoma/patologia , Compostos Radiofarmacêuticos , Sarcoma/diagnóstico por imagem , Neoplasias Torácicas/química , Neoplasias Torácicas/patologiaRESUMO
Differential diagnosis of small round cell sarcomas (SRCSs) grouped under the Ewing sarcoma family of tumors (ESFT) can be a challenging situation for pathologists. Recent studies have revealed that some groups of Ewing-like sarcoma show typical ESFT morphology but lack any EWSR1-ETS gene fusions. Here we identified a novel gene fusion, CIC-FOXO4, in a case of Ewing-like sarcoma with a t(X;19)(q13;q13.3) translocation. The patient was a 63-year-old man who had an asymptomatic, 30-mm, well-demarcated, intramuscular mass in his right posterior neck, and imaging findings suggested a diagnosis of high-grade sarcoma. He was treated with complete resection and subsequent radiotherapy and chemotherapy. He was alive without local recurrence or distant metastasis 6 months after the operation. Histologic examination revealed SRCS with abundant desmoplastic fibrous stroma suggesting a desmoplastic small round cell tumor. Immunohistochemical analysis showed weak to moderate and partial staining for MIC2 (CD99) and WT1, respectively. High-throughput transcriptome sequencing revealed a gene fusion, and the genomic rearrangement between the CIC and FOXO4 genes was identified by fluorescence in situ hybridization. Aside from the desmoplastic stroma, the CIC-FOXO4 fusion sarcoma showed morphologic and immunohistochemical similarity to ESFT and Ewing-like sarcomas, including the recently described CIC-DUX4 fusion sarcoma. Although clinicopathologic analysis with additional cases is necessary, we conclude that CIC-FOXO4 fusion sarcoma is a new type of Ewing-like sarcoma that has a specific genetic signature. These findings have important implications for the differential diagnosis of SRCS.
Assuntos
Biomarcadores Tumorais/genética , Neoplasias Ósseas/genética , Diferenciação Celular , Fusão Gênica , Neoplasias Musculares/genética , Músculos do Pescoço , Proteínas Repressoras/genética , Sarcoma de Ewing/genética , Sarcoma de Células Pequenas/genética , Fatores de Transcrição/genética , Biomarcadores Tumorais/análise , Neoplasias Ósseas/química , Neoplasias Ósseas/patologia , Proteínas de Ciclo Celular , Diagnóstico Diferencial , Fatores de Transcrição Forkhead , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/patologia , Neoplasias Musculares/terapia , Músculos do Pescoço/química , Músculos do Pescoço/patologia , Gradação de Tumores , Fenótipo , Valor Preditivo dos Testes , Sarcoma de Ewing/química , Sarcoma de Ewing/patologia , Sarcoma de Células Pequenas/química , Sarcoma de Células Pequenas/patologia , Sarcoma de Células Pequenas/terapia , Translocação GenéticaRESUMO
: Pseudomyogenic hemangioendothelioma is a recently described vascular tumor that occurs predominantly in the distal extremities of young adults. Because of multifocal presentation, epithelioid morphology, and strong cytokeratin expression, the tumor was frequently misdiagnosed as epithelioid sarcoma. However, substantial immunohistochemical studies revealed an endothelial nature. It has been currently considered a tumor of intermediate malignancy with frequent local recurrence but low risk of distant metastasis. In this report, we describe a case of pseudomyogenic hemangioendothelioma occurring in a 22-year-old man who presented with multifocal disease in the lower extremity and developed bilateral pulmonary metastases within a short period.
Assuntos
Hemangioendotelioma/secundário , Neoplasias Pulmonares/secundário , Neoplasias Musculares/patologia , Neoplasias Cutâneas/patologia , Amputação Cirúrgica , Biomarcadores Tumorais/análise , Biópsia , Quimioterapia Adjuvante , Hemangioendotelioma/química , Hemangioendotelioma/diagnóstico por imagem , Hemangioendotelioma/terapia , Humanos , Imuno-Histoquímica , Extremidade Inferior , Neoplasias Pulmonares/química , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/terapia , Imageamento por Ressonância Magnética , Masculino , Neoplasias Musculares/química , Neoplasias Musculares/terapia , Neoplasias Cutâneas/química , Neoplasias Cutâneas/terapia , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto JovemRESUMO
Sclerosing rhabdomyosarcoma (SRMS) is exceedingly rare, and may cause a great diagnostic confusion. Histologically, it is characterized by abundant extracellular hyalinized matrix mimicking primitive chondroid or osteoid tissue. So, it may be easily misdiagnosed as chondrosarcoma, osteosarcoma, angiosarcoma and so on. Herein, we report a case of SRMS occurring in the masseter muscle in a 40-year-old male. The tumor showed a diverse histological pattern. The tumor cells were arranged into nests, cords, pseudovascular, adenoid, microalveoli and even single-file arrays. Immunostaining showed that the tumor was positive for the Vimentin, Desmin and MyoD1, and was negative for CK, P63, NSE, CD45, CD30, S-100, CD99, Myoglobin, CD68, CD34, CD31, and α-SMA. Based on the morphological finding and immunostaining, it was diagnosed as a SRMS. In addition, focally, our case also displayed a cribriform pattern resembling adenoid cystic carcinoma. This may represent a new histological feature which can broaden the histological spectrum of this tumor and also may lead to diagnostic confusion. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1615846455818924.
Assuntos
Neoplasias de Cabeça e Pescoço/patologia , Músculo Masseter/patologia , Neoplasias Musculares/patologia , Rabdomiossarcoma/patologia , Adulto , Biomarcadores Tumorais/análise , Biópsia , Diagnóstico Diferencial , Neoplasias de Cabeça e Pescoço/química , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Músculo Masseter/química , Músculo Masseter/cirurgia , Neoplasias Musculares/química , Neoplasias Musculares/cirurgia , Valor Preditivo dos Testes , Rabdomiossarcoma/química , Rabdomiossarcoma/cirurgia , EscleroseRESUMO
A 51-year-old man was referred to our hospital with an abnormal nodule in the right lung field. Computed tomography revealed a homogeneous nodule adjacent to the diaphragm, which appeared to be an extrapulmonary lesion. No hilar or mediastinal lymph node swelling was detected, and positron-emission tomography showed no significant uptake. At surgery, 2 red papillary tumors were found, originating from the right diaphragm, and tumor extirpation was performed. The pathological diagnosis was cavernous hemangioma.
Assuntos
Diafragma/patologia , Hemangioma Cavernoso/patologia , Neoplasias Musculares/patologia , Biomarcadores Tumorais/análise , Biópsia , Diafragma/química , Diafragma/cirurgia , Hemangioma Cavernoso/química , Hemangioma Cavernoso/cirurgia , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/cirurgia , Tomografia por Emissão de Pósitrons , Procedimentos Cirúrgicos Torácicos , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
Lung cancers are diagnosed at a metastatic stage in 40% to 50% of cases. Skeletal muscle metastases are rare and usually discovered at autopsy. We report 3 cases of skeletal muscle metastasis. Muscular metastasis revealed the cancer in one patient. The metastases were asymptomatic in all patients. The diagnosis was confirmed histologically in one case and by radiography in the other 2. The evolution was characterized by tumor progression and death after 1-7 months.
Assuntos
Adenocarcinoma/secundário , Carcinoma de Células Escamosas/secundário , Neoplasias Pulmonares/patologia , Neoplasias Musculares/secundário , Músculo Esquelético/patologia , Carcinoma de Pequenas Células do Pulmão/secundário , Adenocarcinoma/química , Adenocarcinoma/terapia , Adenocarcinoma de Pulmão , Biomarcadores Tumorais/análise , Biópsia , Carcinoma de Células Escamosas/química , Carcinoma de Células Escamosas/terapia , Evolução Fatal , Humanos , Imuno-Histoquímica , Neoplasias Pulmonares/química , Neoplasias Pulmonares/terapia , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/química , Neoplasias Musculares/terapia , Músculo Esquelético/química , Carcinoma de Pequenas Células do Pulmão/química , Carcinoma de Pequenas Células do Pulmão/terapia , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
A hibernoma is a benign tumour of brown adipose tissue (BAT). BAT is also present in physiological depots, previously considered residual. However, in 2009 functional BAT in adults was reported. Metabolically active BAT is suggested to significantly influence the energy balance and increasing BAT activity could possibly treat obesity. This strongly increased the interest in BAT in man and currently more research is conducted. We describe the case of an intramuscular hibernoma and illustrate the pathophysiology of the observed hibernoma in relation to recent insights on physiological BAT. Immunofluorescence staining of the hibernoma showed the presence of uncoupling-protein-1, a protein specific for active BAT. This suggests that this hibernoma contains BAT that could possibly contribute to the human energy balance.
Assuntos
Tecido Adiposo Marrom/metabolismo , Lipoma/patologia , Neoplasias Musculares/patologia , Tecido Adiposo Marrom/química , Nádegas , Metabolismo Energético , Humanos , Canais Iônicos/análise , Lipoma/química , Lipoma/cirurgia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Proteínas Mitocondriais/análise , Neoplasias Musculares/química , Neoplasias Musculares/cirurgia , Tomografia Computadorizada por Raios X , Proteína Desacopladora 1RESUMO
Extraskeletal mesenchymal chondrosarcoma (EMC) is a rare and a malignant chondrogenic neoplasm. As a particularity of this neoplasm, about one-third of the cases develop outside the bone, with intramuscular site being a very rare location for development of EMC. The diagnosis of mesenchymal chondrosarcoma can be very challenging, especially in cases without conspicuous cartilaginous differentiation. In such cases its distinction from other small cell mesenchymal neoplasms cannot be safely established. This, however, is of major clinical interest as it implicates different treatment protocols as well as a different prognosis. We hereby present a case of EMC at a unusual location in a 23-year-old female with the purpose to highlight its morphologic features and to discuss its differential diagnosis.