scholarly journals The Rapidly Expanding Group of RB1-Deleted Soft Tissue Tumors: An Updated Review

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 430
Author(s):  
Sasha Libbrecht ◽  
Jo Van Dorpe ◽  
David Creytens
Keyword(s):  
Soft Tissue ◽  
Spindle Cell ◽  
Adult Population ◽  
Suppressor Gene ◽  
Soft Tissue Tumors ◽  
Mesenchymal Tumors ◽  
Pleomorphic Liposarcoma ◽  
Molecular Features ◽  
Pleomorphic Lipoma ◽  
Older Adult Population

The classification of soft tissue tumors has evolved considerably in the last decade, largely due to advances in understanding the pathogenetic basis of many of these, sometimes rare, tumors. Deletion of Retinoblastoma 1 (RB1), a well-known tumor suppressor gene, has been implicated in the tumorigenesis of a particular group of soft tissue neoplasms. This group of so-called ”RB1-deleted soft tissue tumors” has been rapidly expanding in recent years, currently consisting of spindle cell/pleomorphic lipoma, atypical spindle cell/pleomorphic lipomatous tumor, pleomorphic liposarcoma, myofibroblastoma, cellular angiofibroma, and acral fibromyxoma. Most of these neoplasms, except pleomorphic liposarcoma, are considered benign entities and are mainly described in the older adult population. This article will review the currently known morphological, immunohistochemical, and molecular features of this heterogeneous group of mesenchymal tumors with an emphasis on differential diagnosis.

Spindle Cell Lipoma of the Foot: A Case Report and Literature Review

1995 ◽  
Vol 16 (4) ◽  
pp. 220-226 ◽  
Author(s):  
Kevin R. Math ◽  
Helene Pavlov ◽  
Edward DiCarlo ◽  
Walther H. O. Bohne
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Tumor ◽  
Spindle Cell ◽  
Soft Tissue Tumors ◽  
Imaging Features ◽  
Spindle Cell Lipoma ◽  
Imaging Evaluation ◽  
Presumptive Diagnosis ◽  
Pleomorphic Lipoma ◽  
Atypical Lipoma

Lipomas are among the most commonly encountered soft tissue tumors in clinical practice, though they are rare in the foot. Although a presumptive diagnosis is typically made clinically, those tumors with atypical clinical features may require radiological consultation. Difficulty arises when radiographic features are not typical of lipoma. We present a fatty soft tissue tumor of the foot with nonadipose elements on magnetic resonance imaging evaluation. Differentiation of lipoma variants (e.g., spindle cell lipoma, atypical lipoma, pleomorphic lipoma, lipoblastoma, angiolipoma) from liposarcoma based on imaging features is not possible, necessitating surgical resection for definitive histological diagnosis.

scholarly journals FOXO1 gene involvement in a non-rhabdomyosarcomatous neoplasm

2021 ◽  
Author(s):  
Simon Haefliger ◽  
Muriel Genevay ◽  
Michel Bihl ◽  
Romina Marone ◽  
Daniel Baumhoer ◽  
...  
Keyword(s):  
Transcription Factors ◽  
Soft Tissue ◽  
Genetic Heterogeneity ◽  
Gene Fusion ◽  
Fusion Gene ◽  
Soft Tissue Tumors ◽  
Gene Fusions ◽  
Mesenchymal Tumors ◽  
Myoepithelial Differentiation ◽  
Foxo1 Gene

AbstractMyoepithelial neoplasms of soft tissue are rare tumors with clinical, morphological, immunohistochemical, and genetic heterogeneity. The morphological spectrum of these tumors is broad, and the diagnosis often requires immunostaining to confirm myoepithelial differentiation. Rarely, tumors show a morphology that is typical for myoepithelial neoplasms, while the immunophenotype fails to confirm myoepithelial differentiation. For such lesions, the term “myoepithelioma-like” tumor was introduced. Recently, two cases of myoepithelioma-like tumors of the hands and one case of the foot were described with previously never reported OGT-FOXO gene fusions. Here, we report a 50-year-old woman, with a myoepithelial-like tumor localized in the soft tissue of the forearm and carrying a OGT-FOXO1 fusion gene. Our findings extend the spectrum of mesenchymal tumors involving members of the FOXO family of transcription factors and point to the existence of a family of soft tissue tumors that carry the gene fusion of the OGT-FOXO family.

scholarly journals Case Reports in Oncological Medicine Myoepithelioma: A New Rearrangement Involving the LPP Locus in a Case of Multiple Bone and Soft Tissue Lesions

2018 ◽  
Vol 2018 ◽  
pp. 1-6
Author(s):  
Géraldine Pairet ◽  
Gaëlle Tilman ◽  
Rafaël Sciot ◽  
Thomas Schubert ◽  
Vasiliki Perlepe ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Protein Expression ◽  
Case Reports ◽  
S100 Protein ◽  
Soft Tissue Tumors ◽  
Molecular Karyotyping ◽  
Genomic Alteration ◽  
Navicular Bone ◽  
Mesenchymal Tumors ◽  
Epithelial Markers

We report a case of multiple myoepithelioma with synchronous bone and soft tissue tumors, associated with a new genomic alteration of the LPP locus. The lesions occurred in the foot by presenting one lump in the plantar soft tissue, and three lesions were detected in the calcaneus and in the navicular bone. All tumors showed the double immunophenotype of epithelial markers and S100 protein expression. No rearrangement of the EWSR1 and FUS loci was detected as reported in myoepitheliomas. However, molecular karyotyping detected an unbalanced rearrangement of the LPP locus, not involving the HMGA2 locus, which is the most frequent translocation partner observed in benign mesenchymal tumors such as lipomas (of soft tissue as well as parosteal) and pulmonary chondroid hamartoma.

scholarly journals Scope of FNAC in the diagnosis of soft tissue tumors-A study from a tertiary cancer referral center in India

CytoJournal ◽  
2007 ◽  
Vol 4 ◽  
pp. 20 ◽  
Author(s):  
Bharat Rekhi ◽  
Biru D Gorad ◽  
Anagha C Kakade ◽  
RF Chinoy
Keyword(s):  
Soft Tissue ◽  
Predictive Value ◽  
False Positive ◽  
Spindle Cell ◽  
Soft Tissue Tumors ◽  
Diagnostic Tools ◽  
Round Cell ◽  
Cell Type ◽  
Metastatic Lesions ◽  
Spindle Cell Type

Background Fine needle aspiration cytology (FNAC) forms one of the first diagnostic tools in the evaluation of tumors. Its role in diagnosing soft tissue tumors (STT) has been fairly documented, as well as debated. Present study was aimed at evaluating its scope in diagnosing 127 cases of soft tissue tumors. Methods Conventional Pap and MGG staining was available in all the cases. Immunocytochemistry (ICC) was performed in 15 cases. Histopathological details were available in 115 cases. Results 50% cases were referred for a primary diagnosis, while 26.8% & 22.8% cases were evaluated for recurrent and metastatic lesions, respectively. Extremities were the commonest sites. On FNAC, 101 cases (79.5%) were labeled as malignant, whereas 10 cases (7.9%) were labeled as benign. The remaining 16 cases (11%) were not categorized and were labeled as ‘unsure/not specified’. Histopathological confirmation in 115 cases, gave a diagnostic accuracy of 98%, with a positive predictive value of 98% in malignant cases and a negative predictive value of 100% in benign cases. Two cases were false positive. Among the various cytological categories, 60 cases (47.2%) were of spindle cell type, followed by 32 (25.2%) of round cell type and 14 cases (11%) of lipomatous type. Other 12 cases (9.4%) were of pleomorphic type; 7 (5.5%) cases of epithelioid type and remaining 2 cases were of myxoid type. All the round cell, pleomorphic and myxoid type of tumors were sarcomas, whereas 73.3% cases of spindle cell type were labeled as ‘malignant’. Exact cytological sub typing was offered in 58 cases, with rhabdomyosarcoma (RMS) as the most frequently sub typed tumor. The two false positive malignant cases were of fibromatosis and a pigmented schwannoma, on biopsy. Out of 28 metastatic lesions, lymph nodes were the commonest site for metastasis, with epithelioid tumors that formed highest percentage of metastatic cases. Conclusion FNAC is fairly specific and sensitive in STT diagnoses for primary, recurrent and metastatic lesions. The cytological types, especially round cell and pleomorphic sarcomas, can be quickly identified. Clinicopathological correlation with ICC as an adjunct, are valuable in exact sub typing.

Infantile NTRK-associated Mesenchymal Tumors

2017 ◽  
Vol 21 (1) ◽  
pp. 68-78 ◽  
Author(s):  
Jessica L Davis ◽  
Christina M Lockwood ◽  
Catherine M Albert ◽  
Karen Tsuchiya ◽  
Douglas S Hawkins ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Molecular Mechanisms ◽  
Lung Metastases ◽  
Smooth Muscle Actin ◽  
Radical Resection ◽  
Soft Tissue Tumors ◽  
Mesenchymal Tumors ◽  
Variable Expression ◽  
Infantile Fibrosarcoma ◽  
Common Group

Pediatric fibroblastic/myofibroblastic lesions are a relatively common group of tumors with varying morphologies, for which the molecular mechanisms are becoming increasingly well characterized. Congenital infantile fibrosarcoma (CIFS), perhaps the most well studied of these lesions is characterized by a recurrent ETV6-NTRK3 gene fusion. However, a notable subset of locally aggressive congenital/infantile soft tissue lesions with similar morphologic features to CIFS, have not to-date, shown evidence of any canonical molecular aberration. We describe 6 patients with mesenchymal tumors composed of infiltrative fibroblastic/myofibroblastic tumor cells and showing a morphologic spectrum of features much analogous to that previously described in CIFS but without ETV6 fusion transcripts. These tumors lacked a uniform immunoprofile, but showed variable expression of CD34, S100, smooth muscle actin, and CD30. All patients first developed a mass in infancy (≤2 months of age). Using next-generation DNA sequencing, TMP3-NTRK1 fusions were identified in 4 cases, an LMNA-NTRK1 fusion in one case, and a variant EML4-NTRK3 fusion in one case. Similar to infantile fibrosarcoma, these tumors were locally aggressive (with local recurrences if incompletely excised) and rarely metastasized (lung metastases in one patient). Proper identification of these tumors including investigation for NTRK family gene rearrangements is essential for diagnostic accuracy, as well as for clinical management decisions. Given the morbidity associated with radical resection of large soft tissue tumors, children with unresectable, recurrent, and/or metastatic disease may benefit from treatment with NTRK targeted therapies.

Pediatric Soft Tissue Tumors With BCOR ITD Express EGFR but Not OLIG2

2020 ◽  
Vol 23 (6) ◽  
pp. 424-430
Author(s):  
Claudia M. Salgado ◽  
Angelica Zin ◽  
Marta Garrido ◽  
Irina Kletskaya ◽  
Rita DeVito ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Growth Factor Receptor ◽  
Soft Tissue Tumors ◽  
Cell Of Origin ◽  
Mesenchymal Tumors ◽  
Internal Tandem Duplication ◽  
Egfr Amplification ◽  
Egfr Expression ◽  
Epidermal Growth

Introduction Somatic internal tandem duplication of 3’ of BCOR ( BCOR ITD) has been found in clear cell sarcomas of the kidney (CCSK), soft tissue undifferentiated round cell sarcomas/primitive myxoid mesenchymal tumors of infancy (URCS/PMMTI), and a subgroup of central nervous system high-grade neuroepithelial tumors (CNS-HGNET). BCOR ITD+ tumors share morphologic features. Expression of OLIG2 and epidermal growth factor receptor (EGFR) has been reported in CNS-HGNET with BCOR ITD. Here, we characterize OLIG2 and EGFR expression in URCS/PMMTI with BCOR ITD. Methods Paraffin blocks of 9 polymerase chain reaction-confirmed soft tissue BCOR ITD+ tumors (URCS/PMMTI) were immunophenotyped for OLIG2 and EGFR expression and scored semiquantitatively by percentage of positive cells and intensity of staining as negative, 1+, 2+, and 3+. Fluorescence in situ hybridization (FISH) for EGFR amplification was performed (amplification EGFR/CEP7 ratio ≥2.0). Results All 9 tumors showed membrane/cytoplasmic expression of EGFR, strong and diffuse (3+) in 8 cases; weak (+2) in 1. FISH detected no EGFR amplification. OLIG2 was negative in all. Conclusions EGFR is overexpressed in pediatric URCS/PMMTI with BCOR ITD and may be related to transcriptional upregulation of EGFR by BCOR ITD. OLIG2 negative staining differentiates URCS/PMMTI from CNS-HGNET. This finding may further support the possibility that these tumors have a different stem cell of origin.

scholarly journals Combined Cutaneous Sarcoma: Pleomorphic Liposarcoma and Conventional Osteosarcoma—The So-Called Malignant Mesenchymoma

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
David Parada ◽  
Karla B. Peña
Keyword(s):  
Differential Diagnosis ◽  
Soft Tissue ◽  
Local Excision ◽  
Wide Local Excision ◽  
Soft Tissue Tumors ◽  
Pleomorphic Liposarcoma ◽  
Mesenchymal Origin ◽  
Conventional Osteosarcoma ◽  
Immunohistochemical Studies

Malignant mesenchymoma is combined soft tissue tumors of mesenchymal origin. Cutaneous combined sarcomas are exceedingly rare. We report the case of an 81-year-old woman who presented a left cutaneous mass. She underwent a wide local excision. Histopathological and immunohistochemical studies were consistent with the diagnosis of combined pleomorphic liposarcoma and conventional osteosarcoma (malignant mesenchymoma). Although it is extremely rare, this case suggests that combined sarcoma should be considered in the differential diagnosis of undifferentiated pleomorphic neoplasms.

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