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.

Evaluation of Immune-Biomarker Expression in High Grade Soft Tissue Sarcoma : Emphasis of importance of HLA-DQA1 expression as a prognostic marker

2020 ◽  
Author(s):  
Jung Yun Bae ◽  
Kyung Un Choi ◽  
Ahrong Kim ◽  
So Jung Lee ◽  
Kyungbin Kim ◽  
...  
Keyword(s):  
Gene Expression ◽  
Soft Tissue ◽  
Soft Tissue Sarcoma ◽  
Malignant Neoplasm ◽  
High Grade ◽  
Term Survival ◽  
The Poor ◽  
Prognostic Group ◽  
Immune Related Genes ◽  
Hla Dqa1

Abstract Background: High-grade soft tissue sarcoma (STS) is a highly malignant neoplasm having an overall poor prognosis. Numerous prognostic factors determine tumor progression and patient outcome. Many immune-related cells identified in the tumor microenvironment play important roles in various tumor types. This study was undertaken to evaluate the expression of immune-related genes and to elucidate the correlation between these genes and prognosis in high grade STS.Methods: Twelve cases of formalin-fixed paraffin embedded tissue samples of high grade STS were included for gene expression analysis using the NanoString nCounter® System and 35 cases were used for immunohistochemistry. For comparison analysis, the patients were divided into two groups, depending on the overall survival (OS). Expressions of 770 Genes were analyzed using the nCounter® PanCancer Immune Profiling Panel of the NanoString nCounter® Analysis System. Immunohistochemistry for the most significantly altered genes was additionally performed. The correlation between gene expression and prognosis of high grade STS was then evaluated.Results: Of the 770 immune-related genes analyzed by NanoString nCounter® Analysis, several genes were identified as differentially expressed between the two groups. Based on the gene expression level and fold change, representative 13 genes were identified: 7 of the 13 candidate genes (C3, CD36, DOCK9, FCER2, FOS, HLA-DRB4, and NCAM1) were found to be significantly overexpressed in the poor prognostic group. In contrast, expressions of the other 6 immune-related genes (BIRC5, DUSP4, FOXP3, HLA-DQA1, HLA-DQB1, and LAG3) were increased in the good prognostic group. Positive expressions of HLA-DQA1, HLA-DQB1, and HLA-DRB4 were obtained in 74.3%, 34.3% and 48.6% tumors, respectively. The positive expression of HLA-DQA1 was associated with a significantly longer OS (p=0.028). .Conclusions: Analysis of gene expression determined that expressions of 13 immune-related genes were significantly different between two groups. HLA-DQA1 and HLA-DQB1 were significantly decreased, whereas HLA-DRB4 was significantly increased in the poor prognostic group. HLA-DQA1 expression was significantly correlated with long-term survival, and may therefore be an immune-biomarker for good prognosis of high grade STS.

scholarly journals Intraoral Soft Tissue Fibrosarcoma: A Case Report and Review

2014 ◽  
Vol 4 (2) ◽  
pp. 118-123
Author(s):  
Jagdish Vishnu Tupkari ◽  
Tabita Joy Chettiakandy ◽  
Dimple Padawe ◽  
Keshav Kumar ◽  
Manisha Sardar ◽  
...  
Keyword(s):  
Case Report ◽  
Soft Tissue ◽  
Head And Neck ◽  
Soft Tissues ◽  
Malignant Neoplasm ◽  
Neck Region ◽  
Soft Tissue Tumors ◽  
The Body ◽  
World Health ◽  
Head And Neck Region

ABSTRACT Adult fibrosarcoma (FS), defined by the World Health Organization as ‘malignant neoplasm composed of fibroblasts with variable collagen production and, in classical cases, a ‘herringbone’ architecture’, is a very rare soft tissue sarcoma. The earlier literature revealed that the adult fibrosarcoma was the most commonly occurring lesion, however the incidence of which has declined dramatically over the past several decades. This is due to evolution in the classification of soft tissue tumors, recognition of its subtypes and increased understanding of the many other mesenchymal and nonmesenchymal tumors. Sarcomas are the rare group of malignancies which accounts for less than 1% of all the body sarcomas of which 5 to 15% occurs in head and neck region. It involves deep soft tissues of extremities, trunk, head and neck. Among the head and neck region, intraoral adult fibrosarcomas are very rare without any sex predilection. A case of primary soft tissue FS in posterior mandible of an 13-year-old female patient is documented here, which will be an addition to the cases reported earlier in the literatures. How to cite this article Tupkari JV, Chettiakandy TJ, Padawe D, kumar k, Sardar M, Gupta N. Intraoral Soft Tissue Fibrosarcoma: A Case Report and Review. J Contemp Dent 2014;4(2):118-123.

scholarly journals Fertility following treatment of high-grade malignant bone and soft tissue tumors in young adults

2014 ◽  
Vol 3 (2) ◽  
pp. 367-374 ◽  
Author(s):  
MANABU HOSHI ◽  
MASATSUGU TAKAMI ◽  
MAKOTO IEGUCHI ◽  
MASANARI AONO ◽  
JUN TAKADA ◽  
...  
Keyword(s):  
Young Adults ◽  
Soft Tissue ◽  
Soft Tissue Tumors ◽  
High Grade

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 Pleural Metastasis of High-Grade Endometrial Stromal Sarcoma With YWHAE Gene (17p13.3) Rearrangement, A Rare Case Report

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S41-S41
Author(s):  
A C Re ◽  
M Enrique ◽  
S Ren
Keyword(s):  
Case Report ◽  
Spindle Cell ◽  
Malignant Neoplasm ◽  
Endometrial Stromal Sarcoma ◽  
Low Grade ◽  
High Grade ◽  
Stromal Sarcoma ◽  
Uterine Tumors ◽  
Uterine Neoplasm ◽  
Left Pleural Effusion

Abstract Introduction/Objective Endometrial stromal sarcoma (ESS), a rare malignant neoplasm of endometrial stroma, accounts for less than 1% of all uterine tumors. High grade ESS (HGESS) is aggressive and commonly relapses even after surgical and neoadjuvant therapy. Abdominal and pelvic regions are common sites of metastasis, however, distant metastases to the liver, lung, vertebrae, and brain have been reported. Methods/Case Report We encountered a 49-year-old female who presented with shortness of breath, found to have a left pleural effusion and multiple pleural masses. She initially presented three years ago with heavy irregular menses and left pelvic pain for one year. D&C revealed prominent small spindle cells for which a stromal nodule and low-grade or malignant process was probable. CT scan showed an enlarged uterus. Hysterectomy with bilateral salpingo- oophorectomy, bilateral pelvic and para-aortic lymph node dissection, and partial omentectomy were performed. The uterus revealed an intramural 7 cm mass with a serpiginous growth pattern and lymphovascular invasion. Tumor cells were plump to spindled with areas of high cellularity, rounded nuclei, increased atypia and mitosis. Atypical areas were positive for cyclin D1, focally positive for CD10, and negative for ER, PR, SMA, desmin, AE1/3 and CAM5.2. FISH studies showed rearrangement of YWHAE gene (17p13.3) and no rearrangement of JAZF1 or PHF1 gene regions. Findings supported the diagnosis of HGESS. The patient received post-operative chemotherapy. Biopsy of the current pleural lesion revealed a nonspecific malignant spindle cell neoplasm positive for BCL1, CD56, CD117, CD99, TLE1 and INI1, while negative for AE1/3, CAM5.2, EMA, ER, PR, CK5/6, calretinin, SMA, desmin and S100. The CD10 stain was inconclusive. FISH studies showed rearrangement of YWHAE gene (17p13.3) and no rearrangement involving JAZF1 or PHF1 gene regions. No rearrangement of the SS18 gene region was observed and synovial sarcoma was excluded. Overall findings support the diagnosis of metastatic HGESS. Results (if a Case Study enter NA) NA Conclusion HGESS, a rare tumor with a nonspecific immunostain profile, has the ability to metastasize to rare body sites, such as the pleura in our case. Display of spindle cell morphology is a nonspecific finding that raises broad differential diagnoses. In women, with or without a history of uterine neoplasm, HGESS is a clinically worthwhile diagnosis to be mindful of.

scholarly journals The First Case Treated with Larotrectinib of a Novel TMTC2-NTRK3 Fusion Undifferentiated High-Grade Pleomorphic Sarcoma of the Chest

2021 ◽  
Author(s):  
Chujie Bai ◽  
Lu Zhang ◽  
Yaohui Wang ◽  
Taiyan Guo ◽  
Xia You ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Clinical Manifestations ◽  
Soft Tissue Tumors ◽  
The Body ◽  
High Grade ◽  
Pleomorphic Sarcoma ◽  
First Case ◽  
Painless Mass ◽  
Almost All ◽  
Next Generation Sequencing Ngs

Abstract Undifferentiated high-grade pleomorphic sarcoma (UPS) is a rare soft tissue sarcoma (STS) of mesenchymal origin, particularly the extremities and retroperitoneum, meanwhile it has been reported in almost all parts of the body. UPS is highly invasive and has a poor prognosis due to its clinical manifestations of painless mass and deep tumor site, which are usually found at an advanced stage. Patients with UPS tend to have a lower 5-year survival rate than patients with other types of STS. Recently, NTRK fusions were detected in many cancer types, such as thyroid cancer, colorectal cancer, non-small cell lung cancer, soft tissue tumors, uterine sarcomas, and melanomas. However, the mutation frequency of NTRK fusion in all cancers is only 0.1-1%. Targeted therapy with NTRK inhibitors, such as Larotrectinib and Entrectinib, leads to a response in most patients with NTRK1/2/3 gene fusion-positive tumors. Herein, we present a 68-years old man diagnosed with stage IIIA (T2N0M0G3) UPS. Next-generation sequencing (NGS) revealed a novel TMTC2-NTRK3 fusion. The NTRK3 positivity was also detected by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). He had a response to Larotrectinib. This report broadens the spectrum of NTRK fusions in UPS and highlights a new target for treatment.

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