FUS (16p11) Gene Rearrangement as Detected by Fluorescence In-Situ Hybridization in Cutaneous Low-Grade Fibromyxoid Sarcoma: A Potential Diagnostic Tool

Patel, Rajiv M.; Downs‐Kelly, Erinn; Dandekar, Monisha; Fanburg‐Smith, Julie C.; Billings, Steven D.; Tubbs, Raymond R.; Goldblum, John R.

doi:10.1097/iae.0b013e318176de80

Cited by 38 publications

(17 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To confirm the finding, 49 LGFMS cases were evaluated and all exhibited strong and diffuse cytoplasmic staining pattern [3]. However, when applied to suspicious MUC4-negative cases of LGFMS, FUS gene rearrangement should be exploited to guide the diagnosis [9, 18]. …”

Section: Discussionmentioning

confidence: 99%

“…Recently, Doyle et al found that mucin 4 ( MUC4 ) was a highly specific and sensitive marker for LGFMS when compared with other histologically similar tumors [3]. Furthermore, FUS gene rearrangement by fluorescence in situ hybridization (FISH) and FUS-CREB3L2/FUS-CREB3L1 chimeric fusion genes by reverse transcription polymerase chain reaction are the other two reliable approaches for LGFMS diagnosis [9]. …”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Low-grade fibromyxoid sarcoma of the external anal sphincter: a case report

et al. 2017

View full text Add to dashboard Cite

BackgroundLow-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue tumor that has a tendency to grow in the deep soft tissue of the trunk and extremities. Despite its benign appearance, the tumor has a high recurrence rate and metastatic potential. LGFMS in the perineal space is rare, and only a few cases have been reported. We present the first case of LGFMS to be located at the external anal sphincter.Case presentationA 27-year-old male patient admitted to our Surgical Department with perianal pain and swollen for a year. The digital rectal examination revealed a perianal mass. Oral metronidazole and analgesia were prescribed on suspicion of perianal abscess failed to alleviate the symptom; hence, the patient was scheduled for surgery. Intraoperative diagnosis revealed an encapsulated tumor in the external anal sphincter that extended from the perianal region orally to the pararectal space. The results of immunohistochemistry (MUC4 staining) and FUS gene rearrangement by fluorescence in situ hybridization confirmed the diagnosis of LGFMS.ConclusionsThis case is unique in terms of the location of the rare soft tissue tumor. Although LGFMS is considered low grade, its unpredictable behavior necessitates a long-term follow-up.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Low-grade fibromyxoid sarcoma of the external anal sphincter: a case report

et al. 2017

View full text Add to dashboard Cite

show abstract

“…MUC4-negative tumors that are suspected of being low-grade fibromyxoid sarcoma should undergo FUS gene rearrangement analysis to aid the diagnosis [13]. We did not perform these analyses in our patient because her tumor was positive for MUC4.…”

Section: Discussionmentioning

confidence: 99%

“…FUS gene rearrangement as detected by fluorescence in situ hybridization, as well as FUS-CREB3L2/FUS-CREB3L1 chimeric fusion genes detected by reverse transcription polymerase chain reaction, are other reliable approaches for diagnosing low-grade fibromyxoid sarcoma [13]. MUC4-negative tumors that are suspected of being low-grade fibromyxoid sarcoma should undergo FUS gene rearrangement analysis to aid the diagnosis [13].…”

Section: Discussionmentioning

confidence: 99%

Low-Grade Fibromyxoid Sarcoma in the Left Gluteal Region Presenting as Sciatic Nerve Pain

Hashimoto¹,

Toriumi²,

Hara³

et al. 2018

OJO

View full text Add to dashboard Cite

Low-grade fibromyxoid sarcoma is a slowly growing soft tissue neoplasm, mostly affecting young individuals. It usually arises in a deep soft tissue of the lower limbs and trunk, but few cases of low-grade fibromyxoid sarcoma that presents sciatic nerve pain have been reported. We report a 34-year-old woman with a low-grade fibromyxoid sarcoma originating in the left gluteal region that initially presented as sciatic nerve pain; she had experienced this type of pain for 5 years before visiting our hospital. Magnetic resonance imaging revealed a tumor in the left gluteal region. After needle biopsy revealed it to be a low-grade fibromyxoid sarcoma, we performed the wide resection. Intra-operative findings revealed no tumor invasion into the sciatic nerve. No recurrence or metastasis has been detected 6 months post-surgery. Oncologists who encounter patients with sciatic nerve pain should consider the possibility of less common causes such as the low-grade fibromyxoid sarcoma found in our patient.

show abstract

“…While one publication demonstrates quantitative immunohistochemical differences in cell cycle markers between these two tumors [10], the practical use of these for distinguishing between LGFMS and MFS – especially on cytologic preparations – is dubious. LGFMS is associated with the t(7;16)(q34;p11) translocation [62], which has not been shown in MFS [63]. Another translocation-associated sarcoma, extraskeletal myxoid chondrosarcoma (EMCS), is often separated from MFS with light microscopy alone because of the arrangement of EMCS cells into cohesive cords and the characteristic lacunar appearance.…”

Section: Differential Diagnosismentioning

confidence: 99%

Myxofibrosarcoma: Cytomorphologic Findings and Differential Diagnosis on Fine Needle Aspiration

Olson¹,

Ali²

2012

Acta Cytologica

View full text Add to dashboard Cite

Objective: To analyze the cytomorphologic findings of myxofibrosarcoma (MFS) on fine needle aspiration (FNA) and examine the differential diagnoses. Study Design: A retrospective review was undertaken of material from 22 patients with an FNA procedure of their tumor prior to resection. A tally was performed of all the features known in the literature, including myxoid matrix, spindle cells, nuclear pleomorphism, curvilinear vessels, and multinucleated cells. A review of the literature was also performed to elucidate any advances in the use of morphology and other modalities to deconvolute the challenging differential diagnosis. Clinicoradiologic characteristics and immunostaining were also analyzed and correlated. Results: FNA diagnoses included high-grade sarcoma (32%), recurrent MFS (23%), spindle cell neoplasm (18%), indeterminate-grade sarcoma (14%), low-grade sarcoma (9%), and pleomorphic adenoma (4%). Of the cases available for morphologic review, myxoid matrix was the most frequent observation (88%), followed by spindle cells (82%), nuclear pleomorphism (76%), multinucleated cells (71%), and curvilinear vessels (65%). Myxoid matrix, spindle cells, and nuclear pleomorphism were very often concomitant observations. Conclusion: MFS demonstrates characteristic albeit nonspecific morphological findings and can overlap morphologically with other clinically significant entities based on FNA material.

show abstract

FUS (16p11) Gene Rearrangement as Detected by Fluorescence In-Situ Hybridization in Cutaneous Low-Grade Fibromyxoid Sarcoma: A Potential Diagnostic Tool

Cited by 38 publications

References 15 publications

Low-grade fibromyxoid sarcoma of the external anal sphincter: a case report

Low-grade fibromyxoid sarcoma of the external anal sphincter: a case report

Low-Grade Fibromyxoid Sarcoma in the Left Gluteal Region Presenting as Sciatic Nerve Pain

Myxofibrosarcoma: Cytomorphologic Findings and Differential Diagnosis on Fine Needle Aspiration

Contact Info

Product

Resources

About