Abstract

Introduction: Hyalinizing spindle cell tumor with giant rosettes (HSCT) is a very uncommon mesenchymal tumor that has similar morphological and biological features to the low-grade fibromyxoid sarcoma (LGFMS). Case Report: Reported herein is a case of primary tumour of buttock HSCT that had rare FUS-CREB3L1 fusion transcripts, a product of characteristic chromosomal abnormality t (7; 16) (q33; p11) of HSCT and LGFMS. The patient was a 48-year-old man who had a large solitary mass in the buttock. Histologically, it was composed of bland spindle cells with variable cellularity deposited in a densely hyalinized stroma alternating with myxoid areas. Characteristic collagen rosettes were scattered in the cellular areas. Reverse transcription-polymerase chain reaction (RT-PCR) assay using formalin-fixed, paraffin-embedded tissue detected FUS-CREB3L1 fusion transcripts. In our knowledge is the second case may display a variant FUS/CREB3L1 fusion transcript in international literature. Conclusion: LGFMS and HSCT probably have a wider spectrum of morphologic features than previously thought, the awareness of which will help pathologists to avoid diagnostic pitfalls. Demonstration of the t (7; 16) translocation will help to diagnose difficult cases with unusual histologic features.

Highlights

  • Hyalinizing spindle cell tumor with giant rosettes (HSCT) is a very uncommon mesenchymal tumor that has similar morphological and biological features to the low-grade fibromyxoid sarcoma (LGFMS)

  • We describe here a new case of primary tumour of buttock HSCT harboring a molecular particularity with a rare FUS- CREB3L1 fusion transcripts

  • The Hyalinizing spindle cell tumor with giant rosettes (HSCTGR) was first reported in a series of 19 cases culled from a large soft tissue consultation service by Lane et al in 1997 [2]

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Summary

Introduction

Hyalinizing spindle cell tumor with giant rosettes (HSCTGR) is a recently described low-grade sarcoma with a deceptively benign histological appearance [1]. Because it has similar clinicopathological features and biological behavior to that of low-grade fibromyxoid sarcoma (LGFMS), HSCT might be regarded as a variant of LGFMS [2,3]. Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft-tissue tumor with a deceptively benign histologic appearance affecting predominantly young adults during the fourth decade of life [1]. Local postsurgical recurrence and metastases to lungs and bone are frequently seen [1] Both tumors have a characteristic FUS-CREB3L2 fusion gene transcript. We describe here a new case of primary tumour of buttock HSCT harboring a molecular particularity with a rare FUS- CREB3L1 fusion transcripts

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