Sclerosing epithelioid fibrosarcoma of the kidney: clinicopathologic and molecular study of a rare neoplasm at a novel location

Ohlmann, Carsten-Henning; Brecht, Ines B.; Junker, Kerstin; Zee, Jill A. van der; Nistor, Adriana; Bohle, Rainer M.; Stöckle, Michael; Metzler, Markus; Hartmann, Arndt; Agaimy, Abbas

doi:10.1016/j.anndiagpath.2015.04.005

Cited by 19 publications

(41 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…To our knowledge, these are the sixth and seventh genetically confirmed cases of SEF reported in the kidney following very recently described primary renal SEF(s) by Arbajian et al, Argani et al and Ohlmann, et al [1, 8, 9]. Some of their morphologic features are unique and deserve to be noted for full characterization of this entity in a new environment.…”

Section: Introductionmentioning

confidence: 70%

“…Occurrence of primary renal SEF was proven by Argani et al who have recently reported 2 well-documented cases with rearrangement involving EWSR1 and CREB3L1 genes [8] (Table 2). There are also 3 additional cases in the literature described as primary renal SEFs which were shown to express MUC4 [1, 9]. Two of these had rearranged EWSR1 with undocumented fusion gene partner.…”

Section: Discussionmentioning

confidence: 99%

“…There are also 3 additional cases in the literature described as primary renal SEFs which were shown to express MUC4 [1, 9]. Two of these had rearranged EWSR1 with undocumented fusion gene partner.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Primary sclerosing epithelioid fibrosarcoma of kidney with variant histomorphologic features: report of 2 cases and review of the literature

et al. 2015

View full text Add to dashboard Cite

The authors present two cases of primary sclerosing epithelioid fibrosarcoma (SEF) of the kidney. Both patients had a mass in the upper part of the left kidney without any primary extrarenal neoplastic lesions. Grossly, the tumors were solid masses both measuring 7.5 cm in the greatest diameter. Histologically, one of the lesions exhibited a predominantly lobular growth of round or oval small uniform epithelioid cells in variable cellularity. Circular zones of crowded tumor cells alternating with hypocellular collagenous tissue in a concentric fashion around entrapped native renal tubules were distinctive. The second case was distinctive with significant cytological atypia in the neoplastic cells and prominent reactive proliferations in the trapped renal tubules. Immunohistochemically, vimentin, bcl-2 and MUC4 were diffusely positive in both. They were negative for S-100 protein, CD34, and desmin, whereas CD99 were positive in one lesion. Fluorescence in situ hybridization assay using dual staining probes detected EWSR1-CREB3L1 fusion in each lesion, which is characteristic molecular findings of SEF. One patient presented widespread distant metastases at the time of diagnosis. In the other, no tumor deposits were detected other than primary. Both patients have been alive with 30 and 10 month follow-ups, respectively. These tumors are 6th and 7th cases of primary renal SEF in the literature confirmed by FISH study, which exhibit unique and remarkable histomorphologic features.

show abstract

Section: Introductionmentioning

confidence: 70%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Primary sclerosing epithelioid fibrosarcoma of kidney with variant histomorphologic features: report of 2 cases and review of the literature

et al. 2015

View full text Add to dashboard Cite

show abstract

“…LGFMS, SEF, and hybrid LGFMS-SEF tumors occurring at intra-abdominal visceral sites such as the kidney are even rarer. To date, there have been 8 documented cases of primary renal SEF 10,13–16 and 2 cases of primary renal LGFMS 17,18 in the English scientific literature. In keeping with their behavior at more typical locations, primary renal SEFs are associated with a poorer prognosis, with 5 of 8 cases occurring with metastatic disease, in contrast to 0 of 2 cases of primary renal LGFMS (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Primary Renal Hybrid Low-grade Fibromyxoid Sarcoma-Sclerosing Epithelioid Fibrosarcoma: An Unusual Pediatric Case With EWSR1-CREB3L1 Fusion

et al. 2018

View full text Add to dashboard Cite

Low-grade fibromyxoid sarcoma (LGFMS) and sclerosing epithelioid fibrosarcoma (SEF) are rare tumors with distinct sets of morphological features, both characterized by MUC4 immunoreactivity. Tumors exhibiting features of both entities are considered hybrid LGFMS-SEF lesions. While the majority of LGFMS cases are characterized by FUS-CREB3L2 gene fusions, most cases of pure SEF show EWSR1 gene rearrangements. In the largest study of hybrid LGFMS-SEF tumors to date, all cases exhibited FUS rearrangements, a similar genetic profile to LGFMS. We herein describe the clinicopathological features and genetic findings of a case of primary renal hybrid LGFMS-SEF occurring in a 10-year-old child, with disseminated metastases. Fusion gene detection using a next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) was performed on both the primary renal tumor that showed the morphology of a LGFMS, and a cervical metastasis that showed the morphology of SEF. An EWSR1-CREB3L1 gene fusion occurring between exon 11 of EWSR1 and exon 6 of CREB3L1 was present in both the LGFMS and SEF components. This unusual case provides evidence that a subset of hybrid LGFMS-SEF harbor EWSR1-CREB3L1 gene fusions. In this case, these features were associated with an aggressive clinical course, with disease-associated mortality occurring within 12 months of diagnosis.

show abstract

“…1,2 While visceral primaries are exceedingly rare, recent case reports have shown the kidney to be the most common site of involvement of visceral organs. 3–8…”

Section: Introductionmentioning

confidence: 99%

Sclerosing Epithelioid Fibrosarcoma of the Kidney: First Reported Case in a Young Child

2021

View full text Add to dashboard Cite

Sclerosing epithelioid fibrosarcoma (SEF) is a rare variant of fibrosarcoma primarily arising in the deep soft tissue of the extremities and trunk. Despite having the morphologic appearance of a low-grade sarcoma, it generally has an aggressive clinical course with frequent local recurrences and distant metastases. It typically occurs in middle aged adults and is characterized by immunoexpression of MUC4 and recurrent gene fusions, most commonly EWSR1-CREB3L1. We report a primary renal SEF in a 4-year-old male. To our knowledge, this is the youngest patient reported with SEF and the second case of SEF in a pre-adolescent child. It is the eleventh reported case of primary renal SEF in the literature. While SEF arising in visceral organs is rare, the kidney is the most common primary site of any visceral organ. This case demonstrates SEF can occur in pre-adolescents, is an important consideration when evaluating sarcomas in young children, and should be considered in the differential diagnosis for primary renal tumors.

show abstract

Sclerosing epithelioid fibrosarcoma of the kidney: clinicopathologic and molecular study of a rare neoplasm at a novel location

Cited by 19 publications

References 21 publications

Primary sclerosing epithelioid fibrosarcoma of kidney with variant histomorphologic features: report of 2 cases and review of the literature

Primary sclerosing epithelioid fibrosarcoma of kidney with variant histomorphologic features: report of 2 cases and review of the literature

Primary Renal Hybrid Low-grade Fibromyxoid Sarcoma-Sclerosing Epithelioid Fibrosarcoma: An Unusual Pediatric Case With EWSR1-CREB3L1 Fusion

Sclerosing Epithelioid Fibrosarcoma of the Kidney: First Reported Case in a Young Child

Contact Info

Product

Resources

About