High-grade endometrial stromal sarcoma-like’ sarcoma in male: Does it exist? A case report and review of the literature

ElsevierVolume 241, January 2023, 154228Pathology - Research and PracticeAuthor links open overlay panelAbstract

We report an exceptional case of an undifferentiated round and spindle cell sarcoma, occurring in the periprostatic region of a 54-year-old male, with a ‘high-grade endometrial stromal sarcoma-like’ (HG-ESS) morphology and harboring a ZC3H7B::BCOR gene fusion identified by RNA-based next-generation sequencing. In this report, we describe the striking overlap of morphologic, immunohistochemical and molecular features of this current case and previously reported similar cases with ZC3H7B::BCOR fusion-positive HG-ESS, and discuss the differential diagnosis and possible pathogenesis of this unusual entity.

Introduction

High-grade endometrial stromal sarcomas (HG-ESS) are high-grade round and/or spindle cell sarcomas that typically occur in the uterine corpus of women. Their genetic hallmarks are recurrent gene fusions, including YWHAE::NUTM2A/B, ZC3H7B::BCOR or BCOR internal tandem duplications [1]. Here we present an exceptional case of an undifferentiated soft tissue sarcoma located in the periprostatic region of a 54-year-old male with a molecularly proven ZC3H7B::BCOR fusion. We describe the overlapping histological, immunohistochemical and genetic features with ZC3H7B::BCOR fusion-positive HG-ESS. In this paper, we also discuss the differential diagnosis and possible pathogenesis of this unusual entity.

Section snippetsCase presentation

A 54-year-old man with no relevant medical history was referred to the hospital because of increased PSA levels. Magnetic Resonance Imaging (MRI) of the prostate showed a lesion in the right half of the prostate and a large adenopathy (2.2 cm) along the distal external iliac artery. Targeted biopsies of the prostate confirmed the localization of an invasive prostatic acinar adenocarcinoma (Gleason score 3 + 4) in 3 out of 12 biopsies. Tissue sampling of the adenopathy revealed an atypical

Discussion

We report a case of a malignant undifferentiated round to spindle cell sarcoma of soft tissue with a ZC3H7B(exon 10)::BCOR(exon 7) gene fusion. Due to the molecularly proven gene fusion, this case belongs to the group of sarcomas with BCOR (BCL-6 transcriptional corepressor) genetic alterations (so-called ‘BCOR family tumors’), a newly described entity within the heterogeneous group of undifferentiated small round cell sarcomas of bone and soft tissue, recently included in the new World Health

Conclusion

We reported an exceptional case of an undifferentiated round and spindle cell sarcoma of soft tissue, occurring in the periprostatic region, showing a ‘neurinoma-like’ histomorphology compatible with the histological spectrum seen in sarcomas with BCOR genetic alterations and harboring a ZC3H7B::BCOR gene fusion identified by RNA-based next-generation sequencing. Furthermore, diffuse cytoplasmatic and membranous pan-TRK staining without underlying NTRK fusion (‘wild-type’ expression) was

Compliance with Ethical standards

Ethical approval for this study was obtained from the ethical committee of Ghent University Hospital (EC/132–2021/sds).

Funding

The authors received no financial support for the research, authorship, and/or publication of this article.

Informed Consent

Informed consent was obtained from the patient.

Declaration of Conflicting Interests

The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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