Myxoinflammatory fibroblastic sarcoma showing t(2;6)(q31;p21.3) as a sole cytogenetic abnormality

doi:10.1016/j.cancergencyto.2007.05.018

Cancer Genetics and Cytogenetics

Volume 177, Issue 2, September 2007, Pages 139-142

https://doi.org/10.1016/j.cancergencyto.2007.05.018 Get rights and content

Abstract

Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, low-grade sarcoma characterized by distinctive, large, and bizarre Reed–Sternberg–like cells associated with an intense inflammatory infiltrate. The biology of MIFS is still poorly understood, and only two previous cases had been studied cytogenetically. In the present case, analysis of MIFS in the foot of a 53-year-old man revealed the chromosome translocation t(2;6)(q31;p21.3) as the only cytogenetic abnormality. This finding is distinct from the two cases previously reported. Additional studies are needed to verify whether any of these chromosome rearrangements are involved recurrently in MIFS.

Introduction

Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, low-grade mesenchymal neoplasm that predominantly involves distal extremities. MIFS is also known as acral myxoinflammatory fibroblastic sarcoma [1], inflammatory myxohyaline tumor of the distal extremities with virocyte or Reed–Sternberg–like cells [2], or inflammatory myxoid tumor of the soft parts with bizarre giant cells [3]. Histologically, MIFS shows a multinodular architecture wherein distinctive large bizarre cells with prominent nucleoli associated with an intense inflammatory infiltrate are found [1], [2], [3]. The biology of MIFS is still poorly understood, and only two other cases have been characterized by cytogenetic analysis [4], [5]. Here, we describe a third case, with chromosome translocation t(2;6)(q31;p21.3) as the single cytogenetic abnormality.

Section snippets

Case report

A 53-year-old man presented with a 1-year history of progressive swelling in his foot between the third and fourth metatarsals. Magnetic resonance imaging studies showed extensive soft tissue edema but no distinct neoplasm. A diagnostic core biopsy revealed only chronic inflammation. Because of the nonspecific findings, an incisional biopsy was performed, and the diagnosis of MIFS was rendered. The patient underwent a transmetatarsal amputation. Macroscopic inspection showed a myxoid

Discussion

A recently recognized low-grade sarcoma, MIFS affects predominantly the distal extremities of adults [1], [2], [11], [12]. Histologically, MIFS is a multinodular inflammatory myxoid neoplasm that characteristically shows large epithelioid cells with prominent nucleoli resembling Reed–Sternberg cells intermixed with an intense inflammatory component.

The molecular genetics of MIFS is still poorly understood, and only two previous cases have been cytogenetically characterized. The first case,

Acknowledgments

Editing, proofreading, and reference verification were provided by the Section of Scientific Publications, Mayo Clinic.

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TGFBR3 and MGEA5 rearrangements are much more common in "hybrid" hemosiderotic fibrolipomatous tumor-myxoinflammatory fibroblastic sarcomas than in classical myxoinflammatory fibroblastic sarcomas: A morphological and fluorescence in situ hybridization study
2016, Human Pathology
Citation Excerpt :
Unbalanced rearrangements of TGFBR3 and MGEA5 have also been identified by Antonescu and colleagues [7] in 5 of 7 MIFSs, all apparently prospectively diagnosed. Other studies, however, have not identified these genetic events in MIFS, either by traditional cytogenetics [14–16] or with molecular methods [17]. We have previously identified TGFBR3 and/or MGEA5 rearrangements in only 1 of 6 MIFS as part of a larger study emphasizing PHAT [11].
Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare low-grade sarcoma that most often involves the distal extremities of adults. Some MIFSs have been reported to show TGFBR3 and MGEA5 rearrangements. TGFBR3 and MGEA5 rearrangements have also been reported in hemosiderotic fibrolipomatous tumor (HFLT), in pleomorphic hyalinizing angiectatic tumor (PHAT), and in rare tumors allegedly showing features of both HFLT and MIFS (hybrid HFLT-MIFS). These findings have led to speculation that HFLT, MIFS, PHAT, and hybrid HFLT-MIFS are closely related; however, areas resembling HFLTs are only very rarely encountered in previous series of MIFSs. We studied classic examples of these tumors with the goal of clarifying the relationship between MIFS and HFLT-MIFS. Cases of MIFS (n = 31), hybrid HFLT-MIFS (n = 8), PHAT (n = 2), HFLT (n = 1), and undifferentiated pleomorphic sarcoma (n = 4) were retrieved from our archives, and the diagnoses were verified by 5 soft tissue pathologists. Using previously validated break-apart fluorescence in situ hybridization probes, we analyzed for TGFBR3 and MGEA5 rearrangements. Only 2 of 31 MIFSs harbored MGEA5 rearrangements; all lacked TGFBR3 rearrangements. Six of 8 hybrid HFLT-MIFSs harbored rearrangements of TGFBR3 and/or MGEA5. Both PHATs were positive for rearrangements of TGFBR3 and/or MGEA5. The HFLT was positive for rearrangements of both TGFBR3 and MGEA5. All undifferentiated pleomorphic sarcomas with focal myxoid change were negative. We conclude that (1) TGFBR3 and/or MGEA5 rearrangements are much more common in hybrid HFLT-MIFSs than in classic MIFSs, (2) HFLTs and MIFSs may be unrelated lesions, and (3) hybrid HFLT-MIFSs most likely represent HFLTs with sarcomatous progression, rather than tumors strictly related to classic MIFSs.
Recently described and recently re-evaluated soft tissue tumours
2015, Diagnostic Histopathology
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The lipoblast-like cells have cytoplasmic pseudoinclusions with mucin. Complex and heterogeneous karyotypes have been reported in lesions believed to be MIFS, including distinct DNA copy number changes involving chromosome 7 and DNA aneuploidy23 ring chromosomes,24 chromosome translocation t(2;6)(q31;p21.3),25 and t(1;10)(p22;q24) resulting in gene rearrangements of TGFBR3 and MGEA5.26,27 Haemosiderotic fibrolipomatous tumour (HFLT) was first reported as haemosiderotic fibrohistiocytic lipomatous lesion by Marshall-Taylor and Fanburg-Smith in 2000.28
Several soft tissue lesions have been recently highlighted in the medical literature. Some are recently recognized, hence often underdiagnosed because of limited knowledge whereas others have been recognized for sometime but can be viewed afresh in light of emerging molecular data. The aim of this review is to be more familiar with these entities and pathologists should consider these differential diagnosis. We discuss anastomosing haemangioma, soft tissue myoepithelial lesions, and the evolving story of myxoinflammatory fibroblastic sarcoma and other lesions that may or may not be related, namely pleomorphic hyalinizing angiectatic tumour and haemosiderotic fibrohistiocytic inflammatory lesion.
Diagnostic Pathology: Soft Tissue Tumors
2015, Diagnostic Pathology: Soft Tissue Tumors
Pleomorphic Sarcomas
2013, Practical Soft Tissue Pathology: A Diagnostic Approach A Volume in the Pattern Recognition Series
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2013, Practical Soft Tissue Pathology: A Diagnostic Approach A Volume in the Pattern Recognition Series
Complex analysis of a recurrent pleomorphic hyalinizing angiectatic tumor of soft parts
2012, Human Pathology
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The most important finding in the present case was the identification of cytogenetic abnormalities characterized by unbalanced translocations involving chromosomes 1 and 3 and chromosomes 1 and 10. Interestingly, chromosomal aberrations with t(1;10) and a complex rearrangement of chromosome 3 have been recently reported in a case of HFT [12] and were also found, by a number of groups, in a low-grade sarcoma referred to as myxoinflammatory fibroblastic sarcoma (MIFS) [12-17]. The latter is characterized by nodular growth of polymorphous fibroblastic cells, myxoid stroma, an inflammatory infiltrate, and virocyte-like cells.
Pleomorphic hyalinizing angiectatic tumor of soft parts is a recently recognized, low-grade mesenchymal neoplasm of uncertain lineage. It is characterized by clusters of ectatic, fibrin-lined, thin-walled vessels surrounded by pleomorphic but mitotically inert spindled cells with frequent intranuclear inclusions and a variable inflammatory component. Here, we report a case of recurrent pleomorphic hyalinizing angiectatic tumor in a 37-year-old white woman. Touch imprint cytologic analysis revealed oval and spindled cells with fine chromatin, occasional prominent intranuclear inclusions, and intracytoplasmic pigment. The histologic features of the cells constituting the bulk of tumor were those characteristic of a putative precursor lesion (“early pleomorphic hyalinizing angiectatic tumor”) as well as another recently described entity known as hemosiderotic fibrohistiocytic lipomatous lesion. Cytogenetic analysis revealed 2 unbalanced translocations involving chromosomes 1 and 3 and chromosomes 1 and 10, with a karyotype of 45,XX,der(1)t(1;3)(p31;q12),-3,der(10)t(1;10)(p31;q25)[11]/46,XX[4], thus suggesting that this disease is neoplastic. The controversies in classification of these lesions are also discussed.

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Short communicationMyxoinflammatory fibroblastic sarcoma showing t(2;6)(q31;p21.3) as a sole cytogenetic abnormality

Abstract

Introduction

Section snippets

Case report

Discussion

Acknowledgments

Pathol Res Pract

Cancer Genet Cytogenet

Mayo Clin Proc

Ann Diagn Pathol

Genet Med

Cancer Genet Cytogenet

Am J Pathol

Genomics

Blood

Cell

Blood

Blood

Blood

Cancer Genet Cytogenet

Gynecol Oncol

Lab Invest

Acral myxoinflammatory fibroblastic sarcoma: a low-grade tumor of the hands and feet

Am J Surg Pathol

Inflammatory myxohyaline tumor of distal extremities with virocyte or Reed–Sternberg-like cells: a distinctive lesion with features simulating inflammatory conditions, Hodgkin's disease, and various sarcomas

Mod Pathol

Acral myxoinflammatory fibroblastic sarcoma with unique clonal chromosomal changes

Virchows Arch

Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors

N Engl J Med

Short communication
Myxoinflammatory fibroblastic sarcoma showing t(2;6)(q31;p21.3) as a sole cytogenetic abnormality