Primary Low-Grade Fibromyxoid Sarcoma of the Kidney in a Child with the Alternative <i>EWSR1-CREB3L1</i> Gene Fusion

Rubinstein, Jill C.; Visa, Arjun; Zhang, Lei; Antonescu, Cristina R.; Christison‐Lagay, Emily R.; Morotti, Raffaella

doi:10.2350/14-05-1487-cr.1

Cited by 24 publications

(22 citation statements)

References 16 publications

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“…Unexpectedly, one of these cases with classic LGFMS morphology, presenting in the kidney of an infant exhibited EWSR1 and CREB3L1 rearrangements. The findings related to this particular case were recently reported elsewhere (Rubinstein 2014), emphasizing the potential diagnostic pitfall of an EWSR1 -positive FISH result, due to the large morphologic spectrum of EWSR1 -positive tumors in this age group.…”

Section: Resultssupporting

confidence: 75%

“…The majority of LGFMS exhibit the characteristic t(7;16)(q33;p11) translocation resulting in FUS-CREB3L2 fusion (Panagopoulos 2004; Matsuyama 2006), with rare reported cases harboring a t(11;16)(p11;p11) secondary to a FUS-CREB3L1 fusion (Mertens 2005; Guillou 2007; Odem 2013; Rubinstein 2014). The same FUS-CREB3L2 fusion was subsequently demonstrated in a small number of SEF/LGFMS hybrid tumors (Rekhi 2011; Doyle 2012).…”

Section: Introductionmentioning

confidence: 99%

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

Prieto-Granada

Zhang

Chen

et al. 2014

Genes Chromosomes & Cancer

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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 FISH with only one case exhibiting FUS rearrangement. Of the 9 EWSR1 positive cases, 6 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.

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Section: Resultssupporting

confidence: 75%

Section: Introductionmentioning

confidence: 99%

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

Prieto-Granada

Zhang

Chen

et al. 2014

Genes Chromosomes & Cancer

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“…However, a lack of FUS gene rearrangement should not be used to exclude the diagnosis of LGFMS, as occasional cases of LGFMS have been reported which lack FUS rearrangements and instead harbor an EWSR1-CREB3L1 fusion [27,28]. Interestingly, the EWSR1-CREB3L1 gene fusion is more commonly reported in sclerosing epithelioid fibrosarcoma (SEF) which exists on an overlapping morphologic spectrum with LGFMS and similarly exhibits frequent MUC4 positivity [29][30][31].…”

Section: Discussionmentioning

confidence: 94%

Low-Grade Fibromyxoid Sarcoma of the Head and Neck: A Clinicopathologic Series and Review of the Literature

Cowan

Thompson

Leon

et al. 2015

Head and Neck Pathol

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Low-grade fibromyxoid sarcoma (LGFMS) is a deceptively bland malignancy with potential for late recurrence and metastasis, which usually occurs in the deep soft tissues of the extremities and trunk. Most LGFMSs harbor a characteristic gene fusion of FUS-CREB3L2, and recently MUC4 immunostaining has been found to be highly sensitive and specific for the diagnosis. We present a dedicated series of head and neck LGFMS, including the first reported laryngeal case, as well as a review of reported head and neck cases. The surgical pathology archives of our three institutions were searched for cases of LGFMS arising within the head and neck, and four cases were identified. The H&E slides were reviewed, and immunohistochemistry were performed for pancytokeratin, p63, p40, EMA, S100 protein, β-catenin, actin, CD34, and MUC4. The patients were 6, 43, 45, and 73 years old (mean 41.8 years) and included three males and one female. The tumors were located in the posterior cervical spine, facial skin, mandible, and larynx. The tumors were treated with surgical excision, and all four had histologic features typical for LGFMS including alternating myxoid and fibrous areas with prominent curvilinear vasculature. All tumors were MUC4 positive (100%), 2/4 (50%) were p63 positive, 1/4 (25%) showed focal EMA positivity; all 4 were negative for pancytokeratin, p40, S100 protein, β-catenin, actin, and CD34. LGFMS is a low grade sarcoma that rarely develops in the head and neck. Due to its rarity, a pathologist may not consider LGFMS in the differential diagnosis of spindle cell neoplasms within the head and neck. Immunohistochemical staining is helpful, but stains should be selected carefully to avoid misdiagnosis.

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“…First, Rubenstein et al recently reported a case of LGFMS arising in the kidney of a 16 year old male 40 . This 16cm neoplasm harbored the EWSR1-CREB3L1 gene fusion that is more commonly seen in SEF (including our two cases of renal SEF) than in LGFMS of soft tissue.…”

Section: Discussionmentioning

confidence: 99%

Primary Renal Sclerosing Epithelioid Fibrosarcoma

Argani

Lewin

Edmonds³

et al. 2015

American Journal of Surgical Pathology

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We report the first two genetically confirmed cases of primary renal sclerosing epithelioid fibrosarcoma (SEF), occurring in a 17 year-old male and a 61 year-old female. In both cases, the tumors demonstrated the typical epithelioid clear cell morphology associated with extensive hyalinizing fibrosis, raising the differential diagnosis of solitary fibrous tumor, metanephric stromal tumor, and the sclerosing variant of clear cell sarcoma of the kidney. Both neoplasms demonstrated diffuse immunoreactivity for MUC4, a highly specific marker for SEF, and both demonstrated evidence of rearrangement of both the EWSR1 and CREB3L1 genes which have recently shown to be fused in this entity. Both neoplasms presented with metastatic disease. Primary renal SEF represents yet another translocation-associated sarcoma now shown to arise primarily in the kidney.

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Primary Low-Grade Fibromyxoid Sarcoma of the Kidney in a Child with the Alternative EWSR1-CREB3L1 Gene Fusion

Cited by 24 publications

References 16 publications

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

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

Low-Grade Fibromyxoid Sarcoma of the Head and Neck: A Clinicopathologic Series and Review of the Literature

Primary Renal Sclerosing Epithelioid Fibrosarcoma

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