Primary angiomatoid fibrous histiocytoma of the mandible with EWSR1-ATF1 fusion in an adult patient: case report and review of literature.

OBJECTIVE: We report our diagnosis of a rare case of primary angiomatoid fibrous histiocytoma in the mandible of a 42-year-old male using next-generation sequencing to detect disease-specific EWSR1-ATF1 fusion. STUDY DESIGN: After the initial cone beam computerized tomography scan and reconstruction, we performed immunohistochemical staining and fluorescence in situ hybridization analysis on tissue samples to detect EWSR1 gene rearrangement. For the final diagnosis, we performed next-generation sequencing to detect disease-specific EWSR1-ATF1 fusion. RESULTS: FISH analysis showed approximately 55% of tumor cells with mostly isolated red signals, as well as several split red-green signals, indicating the presence of EWSR1 gene rearrangement. Next-generation sequencing analysis identified an EWSR1 exon9-ATF1 exon4 fusion, a diagnostic biomarker of angiomatoid fibrous histiocytoma (AFH). Based on the findings, we diagnosed primary AFH derived from the mandible. CONCLUSIONS: Next-generation sequencing is a powerful methodology for detecting disease-specific EWSR1-ATF1 fusion and diagnosing primary angiomatoid fibrous histiocytoma.

Angiomatoid fibrous histiocytoma in the spinal canal of T3-T4: a case report and literature review.

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumour that occurs in the superficial tissue of extremities of children and young adults. A painless mass in the deep dermis and subcutaneous tissue is the main clinical manifestation. AFH also occurs infrequently in the central nervous system and is relatively common in the cranium. However, spinal canal AFH has not been described yet. We report a rare case of AFH in the cervical canal of a 20-year-old male patient. Microsurgical gross total resection of the tumour was performed, and the diagnosis was confirmed by postoperative pathology. To our knowledge, this is the first case of AFH in the spinal canal.

Myxofibrosarcoma: Another mimicker of meningioma.

Primary intracranial malignant fibrous histiocytoma (MFH), or myxofibrosarcoma, is an extremely rare condition, with only a few cases reported in the literature. We report a case of a dural-based myxofibrosarcoma in a previously healthy 42-year-old man that was initially presumed to be an atypical meningioma. The findings based on conventional and advanced magnetic resonance sequences, including diffusion-weighted imaging, perfusion weighted imaging and proton magnetic resonance spectroscopy, as well as histopathological aspects, are discussed.

Undifferentiated high-grade pleomorphic sarcoma of the colon: a rare case report and literature review.

BACKGROUND: Undifferentiated pleomorphic sarcoma (UPS), also known as malignant fibrous histiocytoma (MFH), hardly originates from the colorectum. CASE PRESENTATION: We reported a 65-year-old female presented with UPS in the descending colon. Computed tomography (CT) revealed an irregularly thickened descending colon. On colonoscopy examination, an ulcerative tumour was identified. The patient received radical resection of the left colon and partial enterectomy. The resected tumor was ulcerative, 10 cm × 8 cm × 5 cm in size, and infiltrated the serosa layer. Postsurgical pathology showed that the tumor was high-graded UPS in the colon with large amounts of necrotic tissues. CONCLUSIONS: UPS in the large intestine is a rare malignant tumor with a poor prognosis and unknown pathogenesis. The main treatment for UPS is early complete resection. Postsurgery adjuvant radiotherapy or chemotherapy can be attempted.

Primary Pulmonary Undifferentiated Pleomorphic Sarcoma: A Rare Malignant Lung Tumor.

We report a case of a 56-year-old man with persistent right upper lobe cavitary mass. A chest computed tomography scan showed about 4-cm-sized mass with internal low attenuation and peripheral enhancement in right upper lobe apical segment. The lesion size increased over 1 month. Right upper lobectomy was performed with the intention to treat the lesion. Pathological examination showed primary pulmonary undifferentiated pleomorphic sarcoma. We describe this rare lung disease to remind that primary pulmonary undifferentiated pleomorphic sarcoma could be the differential diagnosis of pulmonary cavitary mass lesions.

How Can We Differentiate Local Recurrence From Heterotopic Ossification After Resection and Implantation of an Oncologic Knee Prosthesis in Patients with a Bone Sarcoma?

BACKGROUND: Heterotopic ossification (HO) is common after total joint arthroplasty and usually does not cause diagnostic problems. However, the occurrence of HO after oncologic prostheses implantation can be troublesome as it may mimic a locally recurrent tumor. Because this distinction could have a profound impact on the surgeon and patient, it is important to distinguish the two entities; to our knowledge, no study has evaluated this after oncologic endoprosthetic reconstruction around the knee after tumor resection. QUESTIONS/PURPOSES: (1) How common is the occurrence of HO compared with local recurrence (LR) after resection of bone sarcoma and the use of an oncologic knee prosthesis? (2) Are there any factors associated with the development of HO after limb salvage procedures with an endoprosthesis? (3) What features allow the surgeon to differentiate HO from a locally recurrent tumor in this setting? METHODS: Between 2002 and 2018, we performed 409 resections of primary bone tumors followed by reconstructions with oncologic endoprostheses. Of these, 17% (71 of 409) died before 2 years and did not have HO at that time, 2% (8 of 409) were lost to follow-up before 2 years, and another 2% (10 of 409) did not have radiographs available at a minimum of 2 years after surgery (and had not developed HO before then), and so could not be analyzed, leaving 320 patients for analysis in this retrospective study. Forty-two patients were excluded; 2% (5 of 320) for a history of failed allograft reconstruction, 3% (8 of 320) for pathologic fracture at presentation, 2% (6 of 320) for inadequate or complicated biopsy, 1% (2 of 320) for stem fractures, 2% (7 of 320) for stem loosening, and 4% (14 of 320) for extracortical bone bridging, leaving 278 patients for final evaluation. Two observers analyzed AP and lateral radiographs for signs of HO at a mean follow-up of 63 ± 33 months after surgery. We defined HO as extraskeletal bone formation in soft tissues. The primary study endpoint was survivorship free from HO, as ascertained by a competing-risks estimator. To identify factors associated with HO appearance, the demographic, radiographic, clinical, pathologic, and surgical characteristics were compared between patients with HO and those who had no lesion. Characteristic features were also compared between patients with HO and those with LR to help their differentiation. Univariate analysis was used for all statistical evaluations. RESULTS: HO developed in 8% (21 of 278) of patients in whom oncologic knee prosthesis was implanted. LR developed in 10% (28 of 278) of the patients. According to survivorship estimates, the HO-free survival rate was not different from the LR-free survival rate at 2 years after oncologic knee reconstruction (76 ± 5% [95% CI 63 to 87] versus 74 ± 5% [95% CI 62 to 88]; p = 0.19). History of infection was more common in patients with HO than in patients with no lesion (19% [4 of 21] versus 5% [12 of 229], Odds ratio [OR] 6 [95% CI 2 to 17]; p < 0.001). The male sex was more common in the HO group as well (76% [16 of 21] versus 55% [128 of 229], OR 2 [95% CI 1 to 5]; p = 0.03). The Modular Universal Tumor and Revision System prosthesis was more frequently used in patients with HO (67% [14 of 21]) compared to those with no lesions (40% [92 of 229]; OR 2 [95% CI 1 to 5]; p = 0.02). The lesion border in radiographs was ill-defined in 19% (4 of 21) of patients with HO and 100% (28 of 28) of patients with LR (OR 8 [95% CI 3 to 20]; p < 0.001). The median time to the appearance of HO was shorter than the time to LR (8 months [3 to 13] versus 16 months [11 to 21], [95% CI 10 to 13]; p < 0.001). Pain at presentation was more frequent in patients with LR than in those with HO (86% [24 of 28] versus 14% [3 of 21], OR 36 [95% CI 7 to 181]; p < 0.001). CONCLUSION: HO may occur after the use of oncologic knee prostheses for reconstruction after tumor resection. In most patients, HO could be differentiated from local recurrence through identifying a well-defined border on radiographs. Otherwise, factors such as an earlier time of presentation and absence of pain could suggest an HO, rather than an LR. LEVEL OF EVIDENCE: Level III, therapeutic study.

Primary intracranial angiomatoid fibrous histiocytoma: a case report and literature review.

Angiomatoid fibrous histiocytoma (AFH) is a tumour primarily occurring in the extremities which can very rarely occur as an isolated intracranial lesion. We report a case of a 22-year-old woman presenting with generalized seizure and visual field deficit due to an occipital mass, which immunohistochemistry showed to be an AFH.

Myxoid mesenchymal intraventricular brain tumour with EWSR1-CREB1 gene fusion in an adult woman.

Myxoid mesenchymal tumours harbouring fusions between EWSR1 and the CREB family transcription factors have recently been described. Whether they represent a novel entity or a myxoid variant of angiomatoid fibrous histiocytoma (AFH) remains a matter of debate. We describe the case of a 58-year-old woman with a previous history of breast cancer that developed progressive neurological decline due to a large mass located in the left lateral ventricle of the brain. Histology revealed a mesenchymal tumour with multinodular growth, variable cellularity, prominent myxoid stroma and numerous amianthoid fibres. No evidence of pseudo-capsule or lymphoid cuffing was identified. RNA sequencing disclosed EWSR1-CREB1 gene fusion. Only 20 cases of intracranial mesenchymal tumours harbouring these translocations have been described, mostly in adolescents and young adults and with dural attachment. Occurrence in this age group and with intraventricular location has been even more rarely reported. A better understanding of tumour behaviour is needed to establish treatment guidelines and improve patient outcome.

Intracranial myxoid mesenchymal tumor with EWSR1-CREB1 fusion.

Myxoid mesenchymal tumor with predilection for intracranial location harboring EWSR1 fusions with CREB family transcription factors is a recently described and exceedingly rare neoplasm. While some debate still exists whether this is a true separate entity or a myxoid variant of angiomatoid fibrous histiocytoma, these tumors still deserve separate attention due to localization, fairly distinct histology and higher incidence in the pediatric population. Data regarding outcome of these neoplasms are still sparse in medical literature. We report a case of an intracranial myxoid tumor with EWSR1-CREB1 fusion in a 14-year-old girl.

Preoperative Evaluation of Myxofibrosarcoma: Prognostic Value and Reproducibility of Different Features on MRI.

BACKGROUND/AIM: Myxofibrosarcoma (MFS) is characterized by an infiltrative growth pattern. This study aimed to determine the correlation between overall survival (OS) and morphological features of MFS as well as examine the reproducibility of these findings on preoperative magnetic resonance imaging (MRI). PATIENTS AND METHODS: Fifty-eight MFS patients underwent preoperative MR imaging with the following features analysed: i) tumour size, ii) localization, iii) margins, iv) morphology, v) signal characteristics, vi) contrast enhancement, vii) presence and extent of perilesional oedema, and viii) presence of the tail sign. RESULTS: Only circumscribed perilesional oedema was associated with a significantly better survival compared to diffuse oedema (p=0.010), which was found in the majority of cases. The tail sign was found in less than 50% of the cases. Cohen's kappa coefficients confirmed a relatively high interrater variability. CONCLUSION: Perilesional diffuse oedema on MR imaging of MFS is significantly correlated with a poor overall survival. The interrater variability in interpretation of MR examinations varies from slight to substantial agreement. Preoperative MR imaging with detailed planning of the resection seem to be a logical approach to achieve negative resection margins and recurrence-free survival.

Adult Intracranial Myxoid Mesenchymal Tumor with EWSR1-ATF1 Gene Fusion.

BACKGROUND: Intracranial myxoid mesenchymal tumors (IMMTs) carrying an EWSR1-CREB gene family fusion are extremely rare and have only been identified in 10 previous reports. All but one has been found in children or young adults. Although there appear to be similarities to a myxoid variant of angiomatoid fibrous histiocytoma (AFH), clear histologic differences exist that appear to distinguish IMMTs as a distinct and novel entity. Previous reports have lacked detailed long-term follow-up and recommendations regarding treatment approach. CASE DESCRIPTION: This case describes a 48-year-old woman who presented with a left intraventricular mass that was identified on histology as an IMMT with an EWSR1-ATF1 gene fusion. After initial resection, the tumor demonstrated local recurrence. Repeat resection was performed followed by immediate demonstration of local and distant tumor recurrence. Histologic analysis of the tumor demonstrated a myxoid mesenchymal tumor distinct from AFH. Fractionated stereotactic radiation therapy was administered after the second resection, and tumor control was achieved at 1 year. CONCLUSIONS: Intracranial myxoid mesenchymal tumor is a novel and rare entity that has been previously identified in only 10 cases. This case is particularly remarkable because it is only the second IMMT case to occur in a middle-aged adult and shares striking similarities in clinical presentation to the previously reported case. Given the aggressive recurrence seen with the presented case, we recommend the treatment plan to be surgical resection followed by adjuvant radiation therapy.

Maneuvering the Management of a Rare Case of Primary Undifferentiated Cardiac Sarcoma.

BACKGROUND Primary cardiac tumors are rare and mostly benign. Cardiac sarcomas are the most common malignant neoplasms of the heart and harbor a dismal prognosis of 6 to 12 months. The diagnosis of cardiac sarcomas may be challenging. Treatment entails surgical resection despite the high rate of recurrence, as well as adjuvant chemotherapy. CASE REPORT In this report, we discuss a case of a 58-year-old male with undifferentiated pleomorphic primary cardiac sarcomas who received multiple lines of treatment that included surgery, chemotherapy, and targeted therapy and was alive more than 4 years after his diagnosis. Herein, we discuss the different treatment regimens utilized and we present detailed imaging of his case findings at different treatment stages. CONCLUSIONS Treatment of undifferentiated pleomorphic cardiac sarcoma requires a multidisciplinary approach. Surgery and adjuvant treatment are commonly utilized, while neoadjuvant treatment is under investigation.

Difficult diagnosis of Angiomatoid Fibrous Histiocytoma of the leg mimicking a benign condition.

Angiomatoid fibrous histiocytoma is a rarely metastasizing soft-tissue tumor of low-grade malignancy. Here we report a case of angiomatoid fibrous histiocytoma located in the leg of a 15-year-old female. This case is of particular interest due to its radiological features that led to raise two questions concerning the nature of the disease (is it reactive or tumoral?) and its site of origin (within soft tissues or the tibial periosteum?). Here we describe ultrasound, magnetic resonance imaging, computed tomography scan and positron emission tomography findings that helped answer these questions, understand the real nature of the disease and its appropriate treatment. This case shows that a single type of imaging technique may not be sufficient to understand the real nature of a musculoskeletal lesion and that it is necessary to combine all information derived from various imaging techniques in order to correctly diagnose and treat the disease.

Tratamiento del histiocitoma fibroso maligno vertebral, reporte de caso y revisión de la literatura / Treatment of spinal malignant fibrous histiocytoma, a case report and literature review

Objetivo: Presentar un caso de histiocitoma fibroso maligno vertebral a nivel de la cuarta vértebra lumbar que recibió tratamiento por una espondilectomía L4 y colocación de expansor intervertebral y fijación posterior. Caso clínico: Paciente masculino de 47 años de edad sin antecedentes de importancia, que presenta dolor lumbar de 2 meses de evolución. Se trata de forma conservadora, con una leve mejoría del dolor; sin embargo, persiste con dolor lumbar con irradiación a miembros pélvicos de predominio izquierdo, acompañado de debilidad y claudicación. Clínicamente presenta paraparesia 3/5 e hipoestesia L4, L5 y S1 de predominio izquierdo. La tomografía axial computarizada de la región lumbosacra evidencia una lesión osteolítica en cuerpo de L4 de predominio izquierdo con invasión a canal lumbar con márgenes poco delimitados. En el estudio de resonancia magnética de columna lumbosacra se observa lesión hiperintensa en T2, heterogénea, de bordes irregulares, que involucra más del 60% del cuerpo vertebral de L4 con invasión al canal raquídeo que ocasiona compresión a raíces. Se manejó con una espondilectomía L4 y la colocación de un expansor intervertebral y fijación posterior. Conclusión: La espondilectomía es una opción viable y efectiva para el tratamiento del histiocitoma fibroso maligno. La localización lumbar baja conlleva abordajes combinados; sin embargo, el desafío es mayor, ya que requiere de un conocimiento de los grandes vasos abdominales y de una intervención multidisciplinaria

Objective: To present a case of spinal malignant fibrous histiocytoma in the fourth lumbar vertebra that received treatment by an L4 spondylectomy and placement of intervertebral expander and posterior fixation. Case report: A 47-year-old male patient with no relevant history presented with lumbar pain of 2 months' evolution. Treated conservatively, with slight improvement in pain, the patient persisted with low back pain irradiation to pelvic members, predominantly left-sided, accompanied by weakness and claudication. Clinically, he presented with paresthesias 3/5, hypoaesthesia L4, L5 and S1, predominantly left-sided. Lumbosacral computerized axial tomography evidence of an osteolytic lesion in the L4 body, predominantly left-sided, with invasion of the lumbar canal with poorly delimited margins; lumbosacral spine MRI showed hyperintense lesion in T2, heterogeneous, with irregular borders involving more than 60% of the vertebral body of L4 with invasion of the spinal canal causing compression to the roots. He was treated with an L4 spondylectomy and placement of intervertebral expander and posterior fixation. Conclusion: Spondylectomy is an effective option for the treatment of spinal malignant fibrous histiocytoma that involves combined approaches. However the challenge is greater since it requires a knowledge of the great abdominal vessels and multidisciplinary intervention

[Ultrasound and MRI features of malignant fibrous histiocytoma of soft tissue].

OBJECTIVE: To investigate ultrasound and MRI features of malignant fibrous histiocytoma (MFH) of soft tissue. METHODS: Ultrasound, MRI images and pathological data of 12 patients with malignant fibrous histiocytoma in soft tissue confirmed by operation and pathology were analyzed from January 2012 to August 2018, inlcuding 7 males and 5 females, aged from 36 to 69 years old with an average age of 53 years old; the courses of disease ranged from 4 to 49 months with an average of 28 months. Clinical manifestations were soft tissue masses and pain in the affected limbs. Ultrasound, MRI and contrast-enhanced examination were performed before operation. The lesions, morphology, echo/signal characteristics, color flow signals and enhancement features were observed and compared with pathology. RESULTS: In 12 patients with MFH, 9 patients were primary lesions and 3 patients were recurrent lesions after operation. There were 7 cases of bilateral thighs, 2 cases of calves, 1 case of upper arm, 1 case of buttocks and 1 case of posterior peritoneum. The size ranged from 5.1 to 17.1 cm with an average of 8.7 cm. Ultrasound feature showed lobulated or agglomerate, and focused on low echo; 5 cases had capsule and with clear border; 7 cases were unclear boundary with surrounding tissues; and 6 cases with irregular echo-free. The blood flow signals were around the CDFI, and the internal blood flow signals were different. MRI feature showed lobulated, agglomerate or irregular shape, T1WI showed slightly lower signal or equal signal, T2WI showed high signal and DWI signal increased. Six patients manifested mixed signal inside, 7 patients manifested low signal separation inside, 5 patients with false envelope, and 9 patients manifested infiltration and growth with peripheral edema. T1WI showed uneven strengthening after enhancement. Immunohistochemical expression of Vim, CD68 were positive. CONCLUSIONS: The age, location and imaging features of soft tissue MFH are characteristic. The diagnosis of MFH should be considered when irregular mass occurred in soft tissues of limbs at middle-aged and old people. Echo and signal are homogeneous or mixed. Separation, necrosis and cystic degeneration could be seen in the mass. When the blood flow signals are abundant and solid components are obviously enhanced, the diagnosis of MFH should be considered.

Intracranial Myxoid Mesenchymal Tumor with Rare EWSR1-CREM Translocation.

Translocations between EWSR1 and members of the CREB family of transcription factors (CREB1, ATF1, and CREM) are rare genetic findings occurring in various sarcomas. Of these, the EWSR1-CREM translocation is the most rarely reported. We present the case of a 9-year-old boy who presented with a year of fatigue, weight loss, and abulia. A brain MRI revealed a frontal interhemispheric tumor arising from the falx. After resection, pathology demonstrated a myxoid mesenchymal tumor with an EWSR1-CREM translocation. A series of recent reports of similar tumors has generated ongoing debate in the literature over the classification of these tumors either as intracranial angiomatoid fibrous histiocytomas, which also harbor EWSR1-CREB family translocations, or as a novel diagnostic entity. The present case provides another example of the rare EWSR1-CREM fusion in an intracranial myxoid mesenchymal tumor that recurred in just 6 months despite gross total resection. The findings are discussed in the context of the existing literature and the ongoing effort to appropriately classify this type of tumor.

Rapidly Progressive Malignant Fibrous Histiocytoma of Right Atrium: a Rare Case Report.

We are going to present a case of malignant fibrous histiocytoma in the right atrium, which is a very rare entity. The patient had a right atrial mass, which prolapsed through the tricuspid valve into the right ventricle, causing functional tricuspid valve stenosis. The tumor was completely resected and the patient had an uneventful postoperative period. Histopathological examination reported malignant fibrous histiocytoma. The patient presented to the emergency department five weeks after discharge with dyspnea and palpitation. Echocardiography and magnetic resonance imaging revealed recurrent right atrial tumor mass. His clinical status has worsened, with syncope and acute renal failure. On the repeated echocardiography, suspected tumor recurrence was observed in left atrium, which probably caused systemic embolization. Considering the aggressive nature of the tumor and systemic involvement, our Heart Council decided to provide palliative treatment by nonsurgical management. His status deteriorated for the next few days and the patient succumbed to a cardiac arrest on the 4th day.