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Low-Grade Fibromyxoid Sarcoma of the Lateral Skull Base: Presentation of Two Cases.

ABSTRACT: Low-grade fibromyxoid sarcoma (LGFMS) is a rare slow-growing malignant tumour with a deceptively benign histologic appearance. Herein, we report two cases of LGFMS with variable clinical presentations. The first case was a 17-year-old female who referred to our department due to deaf ear on the right together with ipsilateral gag reflex impairment and globus sensation in the pharynx. The second case was a 35-year-old female with recurrent LGFMS, suffering from headaches, vertigo, and episodes of loss of consciousness. LGFMS of the temporal bone is a rare pathology, and to the best of our knowledge, no such cases have been reported before.

SUBMITTER: Chetverikova E

PROVIDER: S-EPMC6644311 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Low-Grade Fibromyxoid Sarcoma of the Lateral Skull Base: Presentation of Two Cases.

Chetverikova Evgenia E Kasenõmm Priit P

Case reports in otolaryngology 20190708

Low-grade fibromyxoid sarcoma (LGFMS) is a rare slow-growing malignant tumour with a deceptively benign histologic appearance. Herein, we report two cases of LGFMS with variable clinical presentations. The first case was a 17-year-old female who referred to our department due to deaf ear on the right together with ipsilateral gag reflex impairment and globus sensation in the pharynx. The second case was a 35-year-old female with recurrent LGFMS, suffering from headaches, vertigo, and episodes of ...[more]

PMID: 31360570

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Gene expression profiling of low-grade fibromyxoid sarcoma (LGFMS)

2011-05-02 | GSE24369 | GEO

Gene expression profiling of low-grade fibromyxoid sarcoma (LGFMS)

Project description:Analysis of gene expression in 17 low-grade fibromyxoid sarcoma (LGFMS) samples compared to that of histologically similar tumors. LGFMS is characterized by the specific translocations t(7;16)(q33;p11) or t(11;16)(p11;p11) and corresponding fusion genes FUS-CREB3L2 or FUS-CREB3L1. The results identifies a LGFMS-specific gene expression profile and provide insight into FUS-CREB3L2 regulated gene expression. RNA was extracted from 17 LGFMS tumor biopsies and hybridized to Affymetrix arrays. RNA from 6 myxofibrosarcoma (MFS), 6 desmoid fibromatosis (DFM), 5 solitary fibrous tumor (SFT) and 6 extraskeletal myxoid chondrosarcoma (EMCS) tumor biopsies was used as comparison. Two pools of skeletal muscle RNA was also included in the comparison.

2011-05-02 | E-GEOD-24369 | biostudies-arrayexpress

A genetic dichotomy between pure sclerosing epithelioid fibrosarcoma (SEF) and hybrid SEF/low-grade fibromyxoid sarcoma: a pathologic and molecular study of 18 cases.

Project description:Sclerosing epithelioid fibrosarcoma (SEF) is a rare soft tissue tumor exhibiting considerable morphologic overlap with low-grade fibromyxoid sarcoma (LGFMS). Moreover, both SEF and LGFMS show MUC4 expression by immunohistochemistry. While the majority of LGFMS cases are characterized by a FUS-CREB3L1 fusion, both FUS-CREB3L2 and EWSR1-CREB3L1 fusions were recently demonstrated in a small number of LGFMS and SEF/LGFMS hybrid tumors. In contrast, recent studies pointed out that SEF harbor frequent EWSR1 rearrangements, with only a minority of cases showing FUS-CREB3L2 fusions. In an effort to further characterize the molecular characteristics of pure SEF and hybrid SEF/LGFMS lesions, we undertook a clinicopathologic, immunohistochemical and genetic analysis of a series of 10 SEF and 8 hybrid SEF/LGFMS tumors. The mortality rate was similar between the two groups, 44% within the pure SEF group and 37% in the hybrid SEF/LGFMS with a mean overall follow-up of 66 months. All but one pure SEF and all hybrid SEF/LGFMS-tested cases showed MUC4 immunoreactivity. The majority (90%) of pure SEF cases showed EWSR1 gene rearrangements by fluorescence in situ hybridization with only one case exhibiting FUS rearrangement. Of the nine EWSR1 positive cases, six cases harbored CREB3L1 break-apart, two had CREB3L2 rearrangement (a previously unreported finding) and one lacked evidence of CREB3L1/2 abnormalities. In contrast, all hybrid SEF/LGFMS tumors exhibited FUS and CREB3L2 rearrangements. These results further demarcate a relative cytogenetic dichotomy between pure SEF, often characterized by EWSR1 rearrangements, and hybrid SEF/LGFMS, harboring FUS-CREB3L2 fusion; the latter group recapitulating the genotype of LGFMS.

| S-EPMC4232448 | biostudies-literature

Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case report.

Project description:Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue tumor composed of bland spindled cells in a variably fibrous to myxoid stroma. Its occurrence in the vulva region is rare, and thus, it may not be always taken into account in the differential diagnosis. Here, we describe a 34-year-old woman presented with a right vulvar mass and underwent complete surgical excision. The final pathologic diagnosis revealed LGFMS of the vulva based on the morphological, immunophenotypic, and molecular genetic features. The patient has not experienced a local or metastatic recurrence after 9-month follow-up. Despite being rare, LGFMS of the vulva should be considered when making a diagnosis of vulvar lesions. We also report that the genetic testing by next-generation sequencing (NGS) represents a very useful tool for the differential diagnosis of LGFMS from its mimics. Moreover, we have reviewed the literature on LGFMS of the vulva and summarized the characteristics of the patients, providing assistance for the diagnosis of such patients. Most vulvovaginal LGFMS can be fully removed through surgery. However, ongoing monitoring over the long term is essential as local and/or distant spread can occur decades after the initial diagnosis.

| S-EPMC10824949 | biostudies-literature

An elderly low-grade fibromyxoid sarcoma patient with early postoperative recurrences and metastases: a case report and literature review.

Project description:BackgroundLow-grade fibromyxoid sarcoma (LGFMS) is a rare type of soft tissue sarcoma that often involves the deep soft tissue of the extremities and trunk in young and middle-aged adults. It is uncommon in the elderly. Here we discuss a case of LGFMS in an elderly patient who had recurrence and metastasis within 2 years of resection of the primary tumor.Case reportA 71-year-old LGFMS patient was presented with a mass in the left forearm accompanied by pain and numbness from the left upper arm to fingers. The patient subsequently underwent 3 surgical resections, although she had 3 recurrences within 6 months after the initial diagnosis. Considering the malignant biological behavior of the tumor, an amputation at 5 cm above the elbow was eventually performed. However, recurrence in the extremity of the stump and chest wall metastasis were observed 2 years after amputation. Then resection of the metastases, radiotherapy and particle implantation therapy were performed. The patient is currently undergoing follow-up and has no evidence of recurrence.ConclusionIn our case, multiple early postoperative recurrences may be associated with a positive margin at initial operation. The patient underwent a total of 5 operations including local resection of the primary tumor, twice wide resections, amputation and metastatic surgery with 4 early postoperative recurrences and metastases within 4 years, suggesting that LGFMS may have highly invasive biological behavior. Our case demonstrated that early aggressive surgical treatment is recommended for LGFMS patients with a positive margin at initial operation and patients who had recurrence even after wide resection rather than local resection. Further research is needed to develop more effective treatment options for rapidly progress and highly aggressive LGFMS.

| S-EPMC10867330 | biostudies-literature

Intracardiac Low-grade Sarcoma Following Treatment for Ewing Sarcoma.

Project description:A 16-year-old male was diagnosed with Ewing sarcoma of the ribcage with pulmonary metastases. Six months after completion of scheduled therapy, he was found to have a new intracardiac mass, presumed recurrent Ewing sarcoma. EWSR1 fusion was not detected by droplet digital polymerase chain reaction from blood plasma. After no improvement with salvage chemotherapy, he underwent surgical resection that identified a low-grade spindle cell sarcoma. Despite the near-synchronous presentation of 2 unrelated sarcomas, extensive genomic analyses did not reveal any unifying somatic or germline mutations nor any apparent cancer predisposition. This case also highlights the potential role of utilizing plasma cell-free DNA for diagnosing tumors in locations where biopsy confers high morbidity.

| S-EPMC5498269 | biostudies-literature

A Systematic Review of Closure Techniques in Lateral Skull Base Tumor Surgery.

Project description:Introduction Tumors of the lateral skull base often require collaboration between neurosurgeons and neurotologists for the surgical approach. The three main transosseous surgical approaches are retrosigmoid (RS), translabyrinthine (TL), and middle fossa (MF). The literature reflects a relative paucity regarding the various closure techniques for these approaches and the postoperative complications. We have performed a systematic review comparing closure techniques from each approach. Methods A systematic review was performed using Ovid MEDLINE (1990-2016) on closure technique and postoperative complications for patients undergoing lateral skull base surgery via the TL, RS, or MF approach. Studies were included if they contained at least 10 patients, described their closure technique, and provided data on postoperative complications. Results A total of 1,403 studies were reviewed. Of these, 53 studies met inclusion criteria yielding a total of 10,466 subjects in this analysis. The average rate of cerebrospinal fluid leak was 5.3% in the TL approach, 9% in the RS approach, and 6.2% in the MF approach. There was no significant effect of various closure techniques on postoperative wound complications in the MF approach. Multiple factors were identified which affected postoperative wound complication in the RS and TL approaches. Conclusion There are a plethora of closure techniques for lateral skull base surgery. Several techniques were identified in this review that may affect the postoperative wound complication rates in lateral skull base surgery.

| S-EPMC8289505 | biostudies-literature

Giant cell reparative granuloma in the temporal bone of the skull base: report of two cases.

Project description:Giant cell reparative granuloma (GCRG) in the temporal bone of the skull base is a very rare benign osteolytic lesion. Here, we report two cases that were initially misdiagnosed according to the patients' histories, clinical symptoms, and brain imaging prior to surgery. One case had a history of resection of a middle cranial fossa meningioma. The other case had a history of otitis media and mastoiditis. Pathological examination of the surgical specimens led to the diagnosis of GCRG for both cases. Both patients recovered well after surgical removal of the lesion without radiotherapy. Follow-up for 2 years indicated no recurrence of GCRG. These two cases support the hypothesis that repairing responses of bone tissue to either trauma or inflammation may underlie the pathogenesis of GCRG.

| S-EPMC3134814 | biostudies-other

Fibromyxoma of the lateral skull base in a child: case report.

Project description:Purpose Fibromyxomas and myxomas are benign tumors of mesenchymal origin usually found outside the nervous system, most commonly in the atrium of the heart. They can also arise in the mandible or maxilla, but it is exceedingly rare to find them within the skull base. The history, histologic features, and the literature, with emphasis on other pediatric cases, are reviewed for this uncommon skull base neoplasm. Methods We describe the case of a 13-year-old girl who presented with a 1-year history of facial weakness, numbness, and hearing loss. A large locally destructive tumor centered in the petrous bone was found on magnetic resonance imaging. Results A mastoidectomy combined with a middle fossa craniotomy was performed for gross total resection. The child is disease free 12 months after surgery. Conclusion Diagnosis could not be made solely on radiographic studies because of the lack of pathognomonic imaging features. Radical resection provided the patient the best chance of cure. Long-term surveillance is necessary to monitor for tumor recurrence.

| S-EPMC3836972 | biostudies-other

Meningitis Risk and Role of Prophylactic Antibiotics in Spontaneous Lateral Skull Base CSF Leaks.

Project description:ObjectiveTo review the literature and our institutional experience regarding the risk of meningitis in patients with spontaneous lateral skull base cerebrospinal fluid (sCSF) leaks awaiting surgical repair, and the roles of antibiotic prophylaxis and pneumococcal vaccination, if known.MethodsA retrospective chart review and systematic review of the literature was undertaken to identify the incidence of meningitis in patients with sCSF leaks awaiting surgical repair. Adults managed surgically for sCSF leaks at an academic tertiary care center over a 10-year period were included. Data was collected on receipt of prophylactic antibiotics and/or pneumococcal vaccines during the timeframe between diagnosis and surgical repair.ResultsInstitutional review identified 87 patients who underwent surgical repair of spontaneous leaks, with a 0% incidence of meningitis over a median duration of 2 months while awaiting surgery (mean 5.5 months, range 0.5-118 months). Eighty-eight percent of patients did not receive prophylactic antibiotics. No studies in the published literature demonstrated the impact of prophylactic antibiotics or pneumococcal vaccine on meningitis risk.ConclusionsThere appears to be a low risk of meningitis among patients with lateral skull base sCSF leaks awaiting surgery for short durations (≤2 months), even in the absence of prophylactic antibiotics. There is a substantial gap in the published literature assessing the risk of meningitis and roles of antibiotics and vaccination in this patient population, indicating the need for large-scale study to conclusively elucidate the nature of this risk.

| S-EPMC10571388 | biostudies-literature

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