Rabdomiosarcoma alveolar. Dos casos negativos para la fusión PAX3-FOXO1 y PAX7-FOXO1 / Alveolar rhabdomyosarcoma: Two fusion-negative cases lacking PAX3-FOXO1 and PAX7-FOXO1

Los rabdomiosarcomas son los tumores de partes blandas más frecuentes en la edad pediátrica y en adultos jóvenes. Morfológicamente se distinguen dos subtipos principales: el rabdomiosarcoma alveolar y el rabdomiosarcoma embrionario. El subtipo alveolar se asocia generalmente con un peor pronóstico y presenta una fusión génica característica que clásicamente se ha utilizado para confirmar el diagnóstico: PAX3/7-FOXO1. Presentamos dos casos que fueron remitidos a nuestro centro. Ambos mostraron morfología alveolar clásica y diferenciación muscular basada en la inmunohistoquímica; no obstante, carecían de la fusión característica PAX3/7-FOXO1. El objetivo de este artículo es resaltar la importancia del estudio molecular de estos casos no solo como herramienta diagnóstica sino también como factor pronóstico importante.(AU)

Rhabdomyosarcoma is the most common soft tissue sarcoma in childhood and adolescence. Morphologically, two major forms are described: alveolar and embryonal rhabdomyosarcoma. The former is generally associated with a poorer prognosis and it usually harbors a characteristic fusion gene, PAX3/7-FOXO1, that is used to confirm the diagnosis. We present two cases, both of which exhibited the classic alveolar histology with immunohistochemical myogenic differentiation (Desmin, MYOD-1 and Myogenin expression) and lacked the characteristic fusion gene PAX3/7-FOXO1. The aim of this report is to highlight the importance of the molecular status in the study and diagnosis of these cases, as it seems to be not only a useful diagnostic tool, but also an important prognostic factor.(AU)

Update on Myogenic Sarcomas.

Myogenic sarcomas include soft tissue sarcomas that show skeletal muscle differentiation (rhabdomyosarcoma) and those with smooth muscle differentiation (leiomyosarcoma). Rhabdomyosarcomas are more common in the pediatric age group and leiomyosarcomas occur more often in the adult population. Based on the clinico-pathologic features and genetic abnormalities identified, the rhabdomyosarcomas are classified into embryonal, alveolar, spindle cell/sclerosing, and pleomorphic subtypes. Each subtype shows distinctive morphology and has characteristic genetic abnormalities. In this update on myogenic sarcomas, each entity is discussed with special emphasis on recent updates in genetic findings and the diagnostic approach to these tumors.

Low-grade myofibroblastic sarcoma of gastric cardia on 18F-FDG positron emission tomography/computed tomography: An extremely rare case report.

RATIONALE: Low-grade myofibroblastic sarcoma (LGMS) is a rare mesenchyme-derived tumor, which usually occurs in head, neck (especially tongue and mouth), and limbs. In this report, we described a case of gastric LGMS by F-fluoro-2-deoxy-d-glucose (FDG) positron emission tomography/computed tomography (PET/CT), which has not been reported previously. PATIENT CONCERNS: A 51-year-old female patient was admitted to our hospital with upper abdominal discomfort for 1 year and gradually increased eating difficulties over the last 3 months. From gastroscopy, an ulcer of 1.0 cm × 1.2 cm at the entrance of cardia and stiffness of peripheral mucosa were found, leading to suspicion of cardia cancer. F-FDG PET/CT was performed for further diagnosis and staging. DIAGNOSES: According to pathological findings in combination with immunohistochemical features, diagnosis of gastric LGMS was made. INTERVENTIONS: To relieve symptoms of upper gastrointestinal obstruction in the patient, proximal gastrectomy was carried out 1 week after the F-FDG PET/CT scan. OUTCOMES: The patient died due to advanced tumor. LESSONS: F-FDG PET/CT scan showed local thickening of the gastric wall, invasion of adjacent soft tissue, diaphragmatic and peritoneal metastasis at early stage, absence of regional lymph node metastasis, and increased F-FDG metabolism in primary tumor and metastatic tumor.

Orbital invasive squamous cell carcinoma with adnexal involvement clinically mimicking feline restrictive orbital myofibroblastic sarcoma: 19 cases (1990-2016).

OBJECTIVE: To describe the clinical presentations of patients diagnosed with ocular adnexal or orbital squamous cell carcinoma (SCC), which possess features similar to feline restrictive orbital myofibroblastic sarcoma (FROMS). PROCEDURES: A retrospective review of adnexal and/or orbital SCC was performed. Cases were collected from the University of Georgia College of Veterinary Medicine and the Comparative Ocular Pathology Laboratory of Wisconsin (COPLOW) (1990-2016). Data included signalment, ophthalmic clinical signs, nonophthalmic history and clinical signs, clinician suspicion of FROMS, advanced imaging results, and subsequent histopathologic diagnosis. FROMS cases from the COPLOW over the same time span were reviewed and compared statistically to the SCC cases with a significance threshold of 0.05. RESULTS: Nineteen cases (20 eyes) were identified with adnexal SCC with features similar to FROMS, including keratitis and eyelid/third eyelid restriction and/or thickening. There were no statistically significant differences between clinical findings in the SCC cases and the identified and compared FROMS cases (57 cases; 67 eyes), except for exophthalmos and/or resistance to retropulsion, which was less common in SCC cases (20%) than in FROMS cases (47.8%) (P = 0.027); and clinical or imaged presence of an overt eyelid or orbital mass, which was more common in the SCC cases (30%) than in the FROMS cases (4.5%) (P = 0.0010). CONCLUSIONS: SCC with adnexal involvement has many features similar to FROMS. In addition to FROMS, SCC should be considered a differential diagnosis in cats with restrictive adnexal or orbital signs and corneal changes.

Low-grade myofibroblastic sarcoma: A population-based study.

OBJECTIVES/HYPOTHESIS: Low-grade myofibroblastic sarcoma (LGMS) is a rare entity that is described as having a predilection for occurring in the head and neck region. Here we analyze its demographics, clinic-pathologic, and survival characteristics. STUDY DESIGN: Retrospective database analysis. METHODS: A cohort from the Surveillance, Epidemiology, and End Results Program database of cases with LGMS between 2001 and 2012. RESULTS: There were 49 cases with a 5-year overall survival of 71.6% and disease- specific survival of 76.3%. The majority of cases were in patients <60 years old, female, and white ethnicity. The most common sites were the extremities in 40.8% of cases followed by the head and neck region with 26.5% of cases. Multivariate analysis showed that only older age was significantly associated with worse survival (P < .05). CONCLUSIONS: LGMS is uncommon in the United States and occurs most commonly in the extremities followed by the head and neck region, despite an existing characterization of a predilection for the head and neck region. Treatment most commonly involves surgery, but the optimal surgical extent and/or radiotherapy needs to be further investigated. LEVEL OF EVIDENCE: 2c Laryngoscope, 127:116-121, 2017.

Low-Grade Myofibroblastic Sarcoma in the Mandibular Canal: A Case Report.

Low-grade myofibroblastic sarcoma (LGMS) represents an atypical myofibroblastic tumor characterized by a diffusely infiltrating pattern of spindle-shaped tumor cells. It was classified as a distinct soft tissue tumor by the World Health Organization in 2002. LGMS occurs mostly in adult patients and has a predilection for the head and neck region. So far, only a few cases of LGMS located in the mandible have been reported. Aggressive surgical resection with clear margins is the primary treatment for LGMS. Because of its rarity, reports of radiation therapy are limited, and the therapeutic effect is still controversial. We present the case of an 8-year-old girl with LGMS of the mandibular canal to highlight the clinical features and rarity and to improve the understanding of the therapeutic effect of radiotherapy on LGMS.

Long-term follow-up and pregnancy after complete sacrectomy with lumbopelvic reconstruction: case report and literature review.

BACKGROUND: Sacrectomy remains a technically complex procedure for resection of malignant pelvic neoplasia. Commonly, postoperative complications include permanent neurological deficits. Only a few studies have reported the long-term functional outcomes of patients who had undergone sacrectomy. CASE PRESENTATION: We previously reported on the utilization of complete sacrectomy and lumbopelvic reconstruction for the management of primary myofibroblastic sarcoma of the sacrum and ilium in a 15-year-old female patient. In this report, we update her postoperative course with an additional 5 years of follow-up and Health-Related Quality of Life (HRQoL) outcomes. During this time period, she gave birth to two healthy full-term babies. CONCLUSION: To the best of our knowledge, this is the first report of pregnancy after total sacrectomy and lumbopelvic reconstruction. We outline some of the challenges in the obstetrical management of this patient.

Myofibroblastic sarcoma in liver: a case report.

We recently encountered a giant Myofibroblastic sarcoma (MS) exceeding 23 cm in diameter which had developed in the liver in a 27-year-old female, and which was surgically resected with gratifying results. On surveillance imaging, a giant mass was detected in the right lobe of the liver. One the basis of morphology and immunohistochemistry features, the diagnosis of intermediate-grade myofibroblastic sarcoma (MS) was established. MS is extremely rarely found in the abdominal cavity. It is almost impossible to make a definite diagnosis before operation. However, the possibility of sarcoma should be taken into account for liver mass according to multimodal imaging features of the mass, especially when the diagnosis of common hepatic tumor was not supported by signs on imaging. Relative characteristic features on multimodal images maybe helpful to considerate the possibility of MS. This is the first reported case to date.

Multicentric myofibroblastic sarcoma.

We report a case of synchronous, multicentric low-grade myofibroblastic sarcoma presenting in a 62-year-old man. He initially presented with inflammatory symmetric polyarthritis and adhesive capsulitis of his shoulder and hips bilaterally and did not respond to a trial of disease modifying antirheumatic drugs. Over a period of several years he developed progressive restriction of both knees and nodules on his hands, both knees and back. A biopsy of the nodule on his back was inconclusive and subsequent biopsies on his left and then right knee revealed a spindle cell neoplasm with an infiltrative growth pattern, mitotic figures, positive immunostaining for smooth muscle actin and focal myxoid change consistent with myofibroblastic sarcoma. While myofibroblastic sarcoma has been known to metastasise, to our knowledge, a multifocal presentation of this tumour has not been described previously.

[Clinical analysis of low grade myofibroblastic sarcoma in head and neck].

OBJECTIVE: To explore the clinical characteristic, the CT, MRI features, diagnosis and treatment of low grade myofibroblastic sarcoma in head and neck. METHOD: Six cases of low grade myofibroblastic sarcoma in head and neck were diagnosis and reviewed retrospectively. Routine preoperative CT and MRI examination were performed. RESULT: All cases were operated one case with radiotherapy before operation was given with a total dose of 60 Gy. The patients were follow-up for 6 months to 5 year and no recurrence was found. No complications occurred in 6 cases. CONCLUSION: It has been confirmed in this research that LGMS is a low-grade malignangt tumor. It was difficult to make early diagnosis through frozen section. The final diagnosis depend on paraffin section and immunohistochemisty. Extended local excision with tumor-free margin is the treatment of choice.

Ependymosarcoma with eosinophilic granular cells.

Ependymosarcoma is a new entity of malignant gliomas composed of ependymal and sarcomatous components. Were port a rare case of ependymosarcoma with eosinophlic cells which occurred to the right trigon of the lateral ventricle.A 62-year-old man complained of headaches over a 2-month period. A hard, gray mass was found in the right trigon of the lateral ventricle during the operation.Although he received radiation and chemotherapy, the patient died due to tumor disseminating through the whole brain within 7 months after the operation. The histological examination revealed that the anaplastic glial components intermingled with the sarcomatous components. Immunohistochemically, sarcomatous cells were positive for α smooth muscle actin and desmin. However, anaplasticglial cells were not positive for these markers. In addition, Masson trichrome stain showed a plethora of collagen fibers between sarcomatous cells, but no collagen fibers were produced by the glial tumor cells. Solid focal papillary lesions of the glial tumor showed dot-like epithelial membrane antigen and diffuse cytoplasmic D2-40 immunoreactivity. Based on the above findings, these anaplastic glial tumor cells should show focal ependymal differentiation, and sarcomatous cells show myofibroblastic differentiation. In addition, almost 10%of the tumor cells in the neoplasm showed bright eosinophilic granules in the cytoplasm. These cytoplasmic eosinophilic granules and bundles were negative on PAS staining. Intracytoplasmic eosinophilic granules of tumor cells were strongly positive for αB-crystallin, HSP 27 and GFAP, respectively. These findings suggest that the clinicopathological characteristics of the present case should be consistent with the criterion of ependymosarcoma by Rodriguez et al.

[Pathology of soft tissue sarcomas]. / A lágyrészsarcomák patológiája.

Soft tissue sarcomas comprise around 1% of all malignant tumors, but they are relatively more frequent in childhood and adolescence. This latter fact emphasizes the need that timely diagnosis should be established for optimal treatment. The very recent WHO classification (2013) lays down the following main categories: adipocyte tumors, fibroblast/myofibroblast tumors, so-called fibrohistiocyte tumors, smooth-muscle tumors, pericyte tumors, skeletal-muscle tumors, vascular tumors, chondro-osseous tumors, gastrointestinal stromal tumors, nerve sheath tumors, tumors of uncertain differentiation and undifferentiated/unclassified sarcomas (including the former malignant fibrous histiocytoma). Beside the proper diagnosis it is also important to give the grade which basically determines the therapy. We use the French Federation of Cancer Centers Sarcoma Group (FNCLCC) grading system. The choice of preoperative diagnosis can be both fine needle and core biopsy and together with radiological image analysis they define the type of surgical intervention. The modern pathological diagnosis of soft tissue sarcomas is still based on the examination of H&E slides but it is also necessary to have a wide immunohistochemical panel and to use molecular methods for the sake of precise diagnosis and the broadening possibilities of targeted therapy.

[Resection and reconstruction in cases of musculosceletal soft tissue sarcomas]. / Sebészi radikalitás és rekonstrukciós lehetõségek végtagi lágyrészsarcomáknál.

Soft tissue sarcomas are rare, reaching some 1.5% of all malignant tumors. While formerly the surgical management of sarcomas almost exclusively consisted of amputation, in the recent years limb saving surgery has become the first choice of therapy. Negative factors affecting the survival rate are: histologically high-grade tumor, size and localization of the tumor, vascular invasion, extensive tumor necrosis, certain subgroups, local recurrence and oncologically positive surgical margin at the resection. Many modern reconstruction possibilities are essential for the safe limb saving surgery with wide surgical margins, such as bone allograft implantation, tumor endoprostheses reconstruction, vascular grafting and plastic surgery. There should always be an attempt to perform limb saving surgery, however life quality, life expectancy and survival are more important considerations influencing essentially the surgical method of choice. In our follow-up study no significant difference in recurrence rate was found between the group of patients with sarcomas requiring a complex reconstruction procedure and the group of those treated by only resection methods (32% versus 47%).

LOW-GRADE MYOFIBROBLASTIC SARCOMA OF THE LARYNX: CASE REPORT AND REVIEW OF LITERATURE.

Low-grade myofibroblastic sarcoma (LGMS) is a very rare, atypical myofibroblastic tumor with fibromatosis-like features with predilection mostly in head and neck region. LGMS occurs primarily in adult patients with a slight male predominance. Only few cases of LGMS affecting the larynx have been reported in literature to this date. We describe a case of low-grade myofibroblastic sarcoma of the larynx in a 40-year-old male patient. The clinicopathological characteristics, immunohistochemical findings and treatment are discussed.

Clinical analysis of low grade myofibroblastic sarcoma in head and neck / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To explore the clinical characteristic, the CT, MRI features, diagnosis and treatment of low grade myofibroblastic sarcoma in head and neck.@*METHOD@#Six cases of low grade myofibroblastic sarcoma in head and neck were diagnosis and reviewed retrospectively. Routine preoperative CT and MRI examination were performed.@*RESULT@#All cases were operated one case with radiotherapy before operation was given with a total dose of 60 Gy. The patients were follow-up for 6 months to 5 year and no recurrence was found. No complications occurred in 6 cases.@*CONCLUSION@#It has been confirmed in this research that LGMS is a low-grade malignangt tumor. It was difficult to make early diagnosis through frozen section. The final diagnosis depend on paraffin section and immunohistochemisty. Extended local excision with tumor-free margin is the treatment of choice.

In myofibroblastic sarcomas of the head and neck, mitotic activity and necrosis define grade: a case study and literature review.

Low-grade myofibroblastic sarcoma (LGMFS) is considered a distinct entity in the World Health Organization classification of soft tissue neoplasms, defined as an atypical myofibroblastic proliferation with fibromatosis-like features and a predilection for the head and neck. A substantial subset of previously reported myofibroblastic sarcomas (MFS), particularly in the head and neck region, are associated with appreciable tumor-associated morbidity and mortality and should be differentiated from the more indolent LGMFS. However, no specific morphological criteria have been developed to define the entity of LGMFS. We have reviewed histological findings in conjunction with clinical follow-up information of previously reported MFS in the head and neck region in the English literature, with the addition of five new cases from our institution. We found that MFSs with 6 or more mitoses per 10 high power fields and/or presence of spontaneous necrosis were accompanied by a higher mortality rate that is statistically significant.

Radomiosarcoma paratesticular: a propósito de un caso / Paratesticular phabdomyosarcoma: a case report

OBJETIVO: Presentar un caso de radomiosarcoma paratesticular y revisión de la literatura. MÉTODOS: Describimos el caso de un varón de 16 años remitido a nuestro servicio por masa paratesticular izquierda de crecimiento progresivo, con imagen ecográfica de tumoración paratesticular heterogénea con flujo Doppler en su interior. RESULTADOS: Se realizó orquiectomía izquierda, con diagnóstico de rabdomiosarcoma. El paciente rechazó el tratamiento quimioterápico adyuvante. Tras 13 meses libre de enfermedad, reingresó por dolor cólico izquierdo detectándose en ecografía y TC una masa retroperitoneal paraaórtica izquierda que condicionaba uréterohidronefrosis grado III, y metástasis pulmonares. A pesar de instaurarse quimioterapia de rescate, no respondió presentando rápida progresión de la masa abdominal con importante deterioro general que no permitió el abordaje quirúrgico, siendo éxitus a las pocas semanas. CONCLUSIÓN: Los sarcomas paratesticulares son tumores infrecuentes y de mal pronóstico(AU)

OBJECTIVE: To report a case of paratesticular rhadomyosarcoma and to perform a bibliographic review. METHODS: We report the case of a 16-year-old male referred to our Department because of a left paratesticular hard tumor with progressive growth. Ultrasound examination showed a paratesticular heterogeneous mass with Internal flow on Doppler. RESULTS: The patient underwent left inguinal orchiectomy, with pathological diagnosis of rhabdomyosarcoma. He refused adjuvant chemotherapy. After being disease-free for 13 months, he presented with left colic pain. Ultrasound and CT examinations showed a left paraaortic retroperitoneal mass causing grade III ureterohydronephrosis, and lung metastases. Despite rescue chemotherapy treatment, there was no response and the abdominal mass progressed. A surgical approach was not possible since patient showed a rapid clinical worsening leading to his death a few weeks later. CONCLUSIONS: Paratesticular sarcomas are very uncommon tumors with poor prognosis(AU)

Ultrastructurally confirmed myofibrosarcoma: a series of 10 new cases, with a discussion on diagnostic criteria.

Some view ultrastructure as key to myofibrosarcoma diagnosis, whereas others argue that electron microscopy is too little used in contemporary practice to be considered an important diagnostic tool. These views are discussed in the context of 10 ultrastructurally confirmed cases of myofibrosarcoma, some occurring at rare sites such as skin and penis. Patient age ranged from 21 to 83 years, with a 6:4 male to female ratio. Size ranged from 2 to 7.5 cm and all had infiltrative margins. Histologically, all consisted of variably cellular fascicles of spindle cells with mild to moderately pleomorphic nuclei, small punctate nucleoli, and eosinophilic cytoplasm. All cases showed α-smooth muscle actin positivity and 2 showed very focal weak positivity for desmin. Ultrastructurally, the tumor cells contained rough endoplasmic reticulum, mainly peripheral smooth-muscle myofilaments, and fibronectin fibrils or fibronexus junctions at the cell surface. The most confident diagnosis of myofibrosarcoma is provided by ultrastructural examination. However, given the right histological appearance, use of a panel of antibodies that includes α-smooth muscle actin, desmin, and h-caldesmon, serves as an acceptable practical way of diagnosing myofibrosarcoma.