scholarly journals The Rarest of Rare Thymic Lesions: A 10-Year Surgical Pathology Experience

Cancers ◽  
2021 ◽  
Vol 13 (16) ◽  
pp. 4056
Author(s):  
Fiorella Calabrese ◽  
Francesco Fortarezza ◽  
Federica Pezzuto ◽  
Francesca Lunardi ◽  
Giovanni Comacchio ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Neuroendocrine Tumors ◽  
Soft Tissue Tumors ◽  
Lymphoid Organ ◽  
Point Of View ◽  
Surgical Pathology ◽  
Collaborative Network ◽  
Case Review ◽  
Mesenchymal Tumors ◽  
Histological Features

The thymus is a specialized primary lymphoid organ located in the midline pre-vascular mediastinum. The organ is the site of various pathological processes, neoplastic and not, whose rarity has not allowed in-depth studies on clinical or histological features of rarest and unusual variants. Herein, we report a 10-year Padova experience in the surgical pathology of the thymus, focusing on the pathological description of nonneoplastic lesions and rare epithelial and mesenchymal tumors recorded in our database, which comprises over 600 thymectomies. The extrapolated rare cases have been categorized into four groups that included 15 cysts, 18 carcinomas, 5 neuroendocrine tumors, and 2 soft tissue tumors. The cases are described from a clinical and pathological point of view and discussed in dedicated sections with a review of the most important literature. In this case, review series, we aim to update the epidemiology of these rare entities, improve diagnostic awareness, and finally, promote a collaborative network between referral centers.

scholarly journals Translating Molecular Profiling of Soft Tissue Sarcomas into Daily Clinical Practice

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 512
Author(s):  
Celine Jacobs ◽  
Lore Lapeire
Keyword(s):  
Soft Tissue ◽  
Unmet Need ◽  
Soft Tissue Sarcomas ◽  
Molecular Profiling ◽  
Point Of View ◽  
Molecular Techniques ◽  
Mesenchymal Tumors ◽  
The Past ◽  
Cancer Types ◽  
Sarcoma Treatment

Soft tissue sarcomas are a group of rare mesenchymal tumors with more than 70 subtypes described. Treatment of these subtypes in an advanced setting is mainly according to a one-size-fits-all strategy indicating a high unmet need of new and more targeted therapeutic options in order to optimize survival. The introduction of advanced molecular techniques in cancer has led to better diagnostics and identification of new therapeutic targets, leading to more personalized treatment and improved prognosis for several cancer types. In sarcoma, a likewise evolution is seen, albeit at a slower pace. This manuscript describes how in the past years advanced molecular profiling in soft tissue sarcomas was able to identify specific and often pathognomonic aberrations, deferring standard sarcoma treatment in favor of more targeted treatment from an oncologist’s point of view.

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.

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.

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.

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 The lipomatosis of the parapharyngeal and retropharyngeal space: A case report

2015 ◽  
Vol 143 (7-8) ◽  
pp. 455-457 ◽  
Author(s):  
Klaudiusz Luczak ◽  
Karolina Dorobisz ◽  
Tomasz Krecicki ◽  
Dariusz Janczak ◽  
Mariusz Chabowski ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Sleep Apnea ◽  
Soft Tissue ◽  
Soft Tissue Tumors ◽  
Retropharyngeal Space ◽  
Respiratory Obstruction ◽  
Mesenchymal Tumors ◽  
Slow Growing ◽  
Progressive Dysphagia

Introduction. Lipomas are the most common benign mesenchymal tumors, which account for almost 50% of all soft-tissue tumors. Case Outline. The case of a 75-year-old patient with a slow growing lesion of para- and retropharyngeal space was reported. The patient was suffering from progressive dysphagia, respiratory obstruction and sleep apnea. Conclusion. An external surgical approach is the treatment of choice. Etiology, differential diagnosis and therapy of head and neck lipomas has been discussed.

scholarly journals Granular Cell Dermatofibroma: When Morphology Still Matters

2021 ◽  
Vol 8 (3) ◽  
pp. 371-375
Author(s):  
Gerardo Cazzato ◽  
Anna Colagrande ◽  
Antonietta Cimmino ◽  
Maricla Marrone ◽  
Alessandra Stellacci ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Fibrous Histiocytoma ◽  
Granular Cell ◽  
Soft Tissue Tumors ◽  
Histopathological Diagnosis ◽  
Histological Features ◽  
Cellular Changes ◽  
Aggressive Tumor ◽  
Cell Variant

Dermatofibroma, also known as “fibrous histiocytoma”, is one of the most common cutaneous soft-tissue tumors. Many variants of dermatofibromas have been described, and knowledge of these variations is important to avoid misdiagnosis of a possibly more aggressive tumor. Histological features of different variants can coexist in the same lesion, but typical common fibrous histiocytoma features are generally found, at least focally, in all cases. However, when cellular changes make up the majority of the lesion, the histopathological diagnosis can become more complex and requires immunohistochemical investigations for correct nosographic classification. We present the case of a cutaneous fibrous histiocytoma, “granular cell” variant, found on the left leg of a 74-year-old woman.

Diagnostic Value of Electron Microscopy in Soft Tissue Tumors

1970 ◽  
Vol 28 ◽  
pp. 220-221
Author(s):  
Gerald Fine ◽  
Azorides R. Morales
Keyword(s):  
Cardiac Myxoma ◽  
Osteogenic Sarcoma ◽  
Diagnostic Value ◽  
Soft Tissue Tumors ◽  
Amelanotic Melanoma ◽  
Growth Patterns ◽  
Light Microscopic Level ◽  
Mesenchymal Tumors ◽  
Good Agreement

For years the separation of carcinoma and sarcoma and the subclassification of sarcomas has been based on the appearance of the tumor cells and their microscopic growth pattern and information derived from certain histochemical and special stains. Although this method of study has produced good agreement among pathologists in the separation of carcinoma from sarcoma, it has given less uniform results in the subclassification of sarcomas. There remain examples of neoplasms of different histogenesis, the classification of which is questionable because of similar cytologic and growth patterns at the light microscopic level; i.e. amelanotic melanoma versus carcinoma and occasionally sarcoma, sarcomas with an epithelial pattern of growth simulating carcinoma, histologically similar mesenchymal tumors of different histogenesis (histiocytoma versus rhabdomyosarcoma, lytic osteogenic sarcoma versus rhabdomyosarcoma), and myxomatous mesenchymal tumors of diverse histogenesis (myxoid rhabdo and liposarcomas, cardiac myxoma, myxoid neurofibroma, etc.)

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