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 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 Subcutaneous Granulomatous Inflammation due to Basidiobolomycosis: Case Reports of 3 Patients in Buruli Ulcer Endemic Areas in Benin

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Luc V. C. Brun ◽  
Jean Jacques Roux ◽  
Ghislain E. Sopoh ◽  
Julia Aguiar ◽  
Miriam Eddyani ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Antifungal Therapy ◽  
Early Recognition ◽  
Case Reports ◽  
Buruli Ulcer ◽  
Granulomatous Inflammation ◽  
Giant Cells ◽  
Soft Tissue Tumors ◽  
Endemic Areas ◽  
Case Presentations

Background. Basidiobolomycosis is a rare subcutaneous mycosis, which can be mistaken for several other diseases, such as soft tissue tumors, lymphoma, or Buruli ulcer in the preulcerative stage. Microbiological confirmation by PCR for Basidiobolus ranarum and culture yield the most specific diagnosis, yet they are not widely available in endemic areas and with varying sensitivity. A combination of histopathological findings, namely, granulomatous inflammation with giant cells, septate hyphal fragments, and the Splendore-Hoeppli phenomenon, can confirm basidiobolomycosis in patients presenting with painless, hard induration of soft tissue. Case Presentations. We report on three patients misdiagnosed as suffering from Buruli ulcer, who did not respond to Buruli treatment. Histopathological review of the tissue sections from these patients suggests basidiobolomycosis. All patients had been lost to follow-up, and none received antifungal therapy. On visiting the patients at their homes, two were reported to have died of unknown causes. The third patient was found alive and well and had experienced local spontaneous healing. Conclusion. Basidiobolomycosis is a rare subcutaneous fungal disease mimicking preulcerative Buruli ulcer. We stress the importance of the early recognition by clinicians and pathologists of this treatable disease, so patients can timely receive antifungal therapy.

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 Anaplastic lymphoma kinase protein expression, genetic abnormalities, and phosphorylation in soft tissue tumors: Phosphorylation is associated with recurrent metastasis

2015 ◽  
Vol 33 (4) ◽  
pp. 1667-1674 ◽  
Author(s):  
YUKINAO ISHIBASHI ◽  
HIROAKI MIYOSHI ◽  
KOJI HIRAOKA ◽  
FUMIKO ARAKAWA ◽  
TOSHIAKI HARAGUCHI ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Protein Expression ◽  
Anaplastic Lymphoma Kinase ◽  
Soft Tissue Tumors ◽  
Anaplastic Lymphoma ◽  
Genetic Abnormalities

A Malignant Neoplasm From the Jejunum With a MALAT1-GLI1 Fusion and 26-Year Survival History

2020 ◽  
Vol 28 (5) ◽  
pp. 553-562
Author(s):  
Owen William John Prall ◽  
Christopher Robert Edward McEvoy ◽  
David John Byrne ◽  
Amir Iravani ◽  
Judy Browning ◽  
...  
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
S100 Protein ◽  
Malignant Neoplasm ◽  
Soft Tissue Tumors ◽  
High Grade ◽  
Metastatic Tumors ◽  
Term Survival ◽  
Pathway Gene ◽  
Mutation Burden

The transcription factor GLI1 is a critical effector of the sonic hedgehog pathway. Gene fusions that activate GLI1 have recently been reported in several tumor types including gastroblastoma, plexiform fibromyxoma, a subset of pericytomas, and other soft tissue tumors. These tumors arise in a wide variety of anatomical origins and have variable malignant potentials, morphologies, and immunohistochemistry profiles. In this case report, we describe a malignant tumor from the jejunum with a MALAT1-GLI1 gene fusion that expressed a truncated constitutively active GLI1 protein and GLI1 targets that were detectable by immunohistochemistry. The tumor showed high-grade epithelioid and spindle cell morphology, strongly expressed CD56, and focally expressed other neuroendocrine markers and cytokeratins, but not S100 protein or SMA. The tumor recurred multiple times in liver, soft tissue, and lung over the course of 26 years, the longest reported follow-up for a GLI1 fusion-associated tumor. These metastatic tumors were also composed of epithelioid and spindle cells, but showed lower morphological grade than the primary tumor. The metastatic tumors resembled the recently reported “malignant epithelioid neoplasms with GLI1 rearrangements.” The tumor also had a relatively high tumor mutation burden for a sarcoma. This case report expands the sites of origin for GLI1 rearranged neoplasms and shows that despite being associated with high-grade morphology, these malignancies can be associated with very long-term survival.

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.

scholarly journals Inflammatory Myofibroblastic Tumor in the Inguinal canal: A Rare Case Report

2022 ◽  
Author(s):  
Arpankumar Patel ◽  
Rutikbhai Desai ◽  
Hilloni Shah ◽  
Laseena Vaisyambath ◽  
Manozna Karri ◽  
...  
Keyword(s):  
Risk Factors ◽  
Soft Tissue ◽  
Inflammatory Myofibroblastic Tumor ◽  
Case Reports ◽  
Symptomatic Treatment ◽  
Soft Tissue Tumors ◽  
Anaplastic Lymphoma ◽  
Rare Case Report ◽  
Inflammatory Pseudotumors ◽  
Specific Symptoms

Abstract Background Inflammatory myofibroblastic tumors, previously known as inflammatory pseudotumors, are rare soft tissue carcinomas with variable presentation and location. Due to non-specific symptoms and location, the diagnosis of this condition is often clinically challenging. Only a handful of case reports have been published in the literature describing this tumor, and there is still a lack of consensus on pathogenesis, risk factors, and treatment strategy. Most tumors have shown mutation in the anaplastic lymphoma receptor tyrosine kinase (ALK) gene. In this article, we describe a case of ALK-negative malignant inflammatory myofibroblastic tumor. Case A 46 years old male with no risk factors presented with a mass in the inguinal region. The ultrasound was suggestive of a mixed echoic mass suggestive of inguinal hernia, which led to surgical repair with resection of the tumor segment. Subsequently, histopathology and immunohistochemistry confirmed that the mass was an inflammatory myofibroblastic tumor which then recurred in a few years and failed to respond to multiple chemotherapy regimens, and over time, it progressively metastasized to the anterior abdominal wall and lungs. The patient is currently receiving palliative chemotherapy and symptomatic treatment. Conclusion This rare soft tissue tumor has not received much attention, and clinicians often miss the diagnosis. We stress that further study should be carried out on these soft tissue tumors, and adequate diagnostic and therapy recommendations should be developed.

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 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.

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