scholarly journals A Challenging Case of Metastatic Intra-Abdominal Synovial Sarcoma with Unusual Immunophenotype and Its Differential Diagnosis

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Yi-Che Changchien ◽  
Uhrin Katalin ◽  
János Fillinger ◽  
László Fónyad ◽  
Gergő Papp ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Tumor Cells ◽  
Synovial Sarcoma ◽  
Desmoid Tumor ◽  
Gold Standard ◽  
Fusion Gene ◽  
Rt Pcr ◽  
Diagnostic Challenge ◽  
Wide Range ◽  
Typical Morphology

The primary and metastatic gastrointestinal synovial sarcoma is rare with a wide differential diagnosis. It usually expresses cytokeratins EMA, BCL2 with an occasional CD99, and S100 positivity but not desmin. We present a case of metastatic synovial sarcoma with unusual immunophenotype causing diagnostic challenges. The tumor cells showed focal cytokeratin, EMA, and, unexpectedly, desmin positivity. Additional intranuclear TLE-1 positivity and negativity for CD34 and DOG-1 were also identified. A diagnosis of monophasic synovial sarcoma was confirmed by using FISH break-apart probe. RT-PCR revealed the SYT-SSX1 fusion gene. Intra-abdominal synovial sarcoma, either primary or metastatic, with unusual desmin positivity raises the diagnostic challenge, since a wide range of differential diagnoses could show a similar immunophenotype (leiomyosarcoma, desmoid tumor, myofibroblastic tumor, and rarely GIST etc.). Typical morphology and focal cytokeratin/EMA positivity should alert to this tumor, and FISH and RT-PCR remain the gold standard for the confirmation.

Malignant Deciduoid Mesothelioma: A Diagnostic Challenge

2005 ◽  
Vol 129 (3) ◽  
pp. 403-406 ◽  
Author(s):  
Najat Mourra ◽  
Cecilede Chaisemartin ◽  
Isabelle Goubin-Versini ◽  
Rolland Parc ◽  
Jean-Francois Flejou
Keyword(s):  
Differential Diagnosis ◽  
Cesarean Section ◽  
Tumor Cells ◽  
Elderly People ◽  
Young Women ◽  
Poor Prognosis ◽  
Diagnostic Challenge ◽  
Keratin 5 ◽  
The Poor ◽  
Rare Phenotype

Abstract Malignant deciduoid mesothelioma, a rare phenotype of epithelioid mesothelioma, arises more commonly from the peritoneum of young women, but it is also reported in the pleura of elderly people. We report a case of malignant deciduoid mesothelioma that occurred in a 41-year-old woman after cesarean section and was initially misdiagnosed as pseudotumoral deciduosis. Microscopically, the tumor was entirely composed of deciduoid areas, and only scattered tumor cells were positive for calretinin and keratin 5/6. The patient died 14 months after the first operation. This observation confirms the poor prognosis of this entity and the importance of the differential diagnosis of pseudotumoral deciduosis.

scholarly journals Primary Pulmonary Poorly Differentiated Synovial Sarcoma: Transducer-Like Enhancer of Split 1 Immunohistochemistry as A Valuable Diagnostic Aid

2013 ◽  
Vol 5 (01) ◽  
pp. 55-57
Author(s):  
Amulyajit Kaur ◽  
Henry Dale Tazelaar ◽  
Kavita Sahai
Keyword(s):  
Synovial Sarcoma ◽  
Gold Standard ◽  
Fusion Gene ◽  
Young Individual ◽  
Diagnostic Aid ◽  
Synovial Sarcomas ◽  
Poorly Differentiated ◽  
Enhancer Of Split

ABSTRACTPoorly differentiated primary pulmonary synovial sarcomas are rare and challenging for a surgical pathologist to diagnose. Although the demonstration of the tumor specific translocation, t (x; 18)(p11.2;q11.2) or the resultant fusion gene (SYT-SSX) is the gold standard for diagnosis, this test is not always accessible. We report the use of immunohistochemistry, including transducer-like enhancer of split-1 in the diagnosis of one such tumor in a young individual.

scholarly journals Evaluation of NTRK Gene Fusion by Five Different Platforms in Triple-Negative Breast Carcinoma

2021 ◽  
Vol 8 ◽  
Author(s):  
Shafei Wu ◽  
Xiaohua Shi ◽  
Xinyu Ren ◽  
Kaimi Li ◽  
Junyi Pang ◽  
...  
Keyword(s):  
Breast Carcinoma ◽  
Tumor Cells ◽  
Targeted Therapies ◽  
Gene Fusion ◽  
Triple Negative ◽  
Fusion Gene ◽  
Rare Event ◽  
Nuclear Staining ◽  
Rt Pcr ◽  
Triple Negative Breast Carcinoma

Triple-negative breast carcinoma (TNBC) is an aggressive disease that has a poor prognosis since it lacks effective treatment methods. Neurotrophic tyrosine receptor kinase (NTRK) fusion genes are excellent candidates for targeted RTK inhibitor therapies and there are available targeted therapy drugs for the treatment of TRK fusion-positive tumors in a tumor agnostic pattern. Our study was designed to investigate the NTRK gene fusion status in TNBC patients and to determine whether RTK-targeted therapies are suitable for TNBC patients. A total of 305 TNBC patients were enrolled in our study. IHC was employed as a prescreening method, and IHC positive cases were further submitted for evaluation by FISH, RT-PCR, and NGS methods. NTRK IHC was evaluated successfully in 287 of the 305 cases, and there were 32 (11.15%) positive cases. FISH was carried out in the 32 IHC positive cases. There were 13 FISH-positive cases if the threshold was set as >15% of the 100 counted tumor cells having a split orange and green signal with more than one signal diameter. There were only 2 FISH-positive cases if the cutoff value was defined as >15% of the counted tumor cells having a split signal with more than two signal diameter widths. One of the FISH-positive cases had a separate NTRK3 FISH signal in 88% of the tumor cells, and its IHC result was strong nuclear staining in all the tumor cells. After evaluation of the morphology, it was re-diagnosed as secretory breast carcinoma, and the NGS result confirmed that it had a NTRK3-ETV6 fusion gene. The other FISH-positive cases were all negative for NTRK gene fusion in the NGS or RT-PCR examination. The NTRK gene fusion rate was low in our TNBC cohort. NTRK gene fusion may be a rare event in TNBC. The high false-positive rate of NTRK gene fusion detected by IHC questions its role as a prescreening method in TNBC. More data may be needed to determine a suitable threshold for NTRK FISH in TNBC in the future. More studies are needed to confirm whether RTK-targeted therapies are appropriate treatments for TNBC patients.

scholarly journals ANGI-05. ORIGIN OF MICROVASCULAR PROLIFERATION IN PILOCYTIC ASTROCYTOMA - MVP IN PILOCYTIC ASTROCYTOMA MIGHT PARTIALLY COMPRISE TUMOR-DERIVED CELLS

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi31-vi31
Author(s):  
Shinji Yamashita ◽  
Hideo Takeshima ◽  
Takashi Watanabe ◽  
Kiyotaka Yokogami
Keyword(s):  
Tumor Cells ◽  
Pilocytic Astrocytoma ◽  
Fusion Gene ◽  
Digital Pcr ◽  
Quantitative Detection ◽  
Rt Pcr ◽  
Pcr Assay ◽  
Microvascular Proliferation ◽  
Braf Fusion ◽  
Cellular Components

Abstract Microvascular proliferation (MVP), an aberrant vascular structure containing multilayered mitotically active endothelial- and smooth-muscle cells/pericytes, is a histopathological hallmark of glioblastoma multiforme (GBM). Although MVP tends to be associated with high-grade glioma, it has also been detected in WHO grade I pilocytic astrocytoma (PA). However, little is known about the mechanism underlying its formation. Using TP53 point mutations as a marker for tumor-derived cells, we earlier reported that MVP was partially converted from tumor cells via mesenchymal transition. In the current study we used the KIAA1549-BRAF fusion gene as a marker to assess whether MVP in PA contained tumor-derived cells. cDNA synthesized from frozen tissue of six PA patients operated at our institute was analyzed to detect the KIAA1549-BRAF fusion gene by reverse transcription polymerase chain reaction (RT-PCR) assay. The breakpoint in the fusion gene was characterized by long and accurate PCR (LA-PCR) and Sanger sequencing of genomic DNA. Distinct tumor cells and cellular components of MVP were obtained by laser microdissection. For the qualitative and quantitative detection of the KIAA1549-BRAF fusion gene we performed genomic and digital PCR assays. Fluorescence in situ hybridization (FISH) was used to assess gene fusion in cellular components of MVP. Samples from three PA patients harbored the KIAA1549 exon 15, BRAF exon 9 fusion gene. In two patient samples with abundant MVP, RT-PCR assay detected strong bands arising from the KIAA1549-BRAF fusion gene in both tumor cells and cellular components of MVP. Digital PCR showed that vis-à-vis tumor tissue, its relative expression in cellular components of MVP was 42% in one- and 76% in another sample. FISH revealed amplified signals in both tumor cells and cellular components of MVP indicative of tandem duplication. Our findings suggest that in patients with PA, some cellular components of MVP may be tumor-derived.

scholarly journals A case of chronic ulcer due to subcutaneous arteriolosclerosis in an obese patient mimicking pyoderma gangrenosum

2018 ◽  
Vol 10 (1) ◽  
Author(s):  
Sezin Fıçıcıoğlu ◽  
Nuray Can ◽  
Busem Tutuğ
Keyword(s):  
Morbid Obesity ◽  
Differential Diagnosis ◽  
Renal Insufficiency ◽  
Pyoderma Gangrenosum ◽  
Tissue Perfusion ◽  
Chronic Ulcer ◽  
Diagnostic Challenge ◽  
Wide Range ◽  
Chronic Ulcers ◽  
Arteriolar Narrowing

The differential diagnosis of chronic ulcers covers a wide range of diseases and poses a diagnostic challenge. Subcutaneous ischemic arteriolosclerosis can lead to local ischaemia and ulceration as a result of arteriolar narrowing and reduction of tissue perfusion. This pathophysiological feature can be seen in eutrophication (nonuremic calciphylaxis) in morbid obesity, hypertensive ischemic leg ulcer (Martorell ulcer) and calciphylaxis in chronic renal insufficiency. All of the ulcers happened in this way can be wrongly diagnosed as pyoderma gangrenosum because of clinical similarity and inadequate biopsies. We report a case of chronic ulcer due to subcutaneous arteriolosclerosis in morbid obesity, wrongly diagnosed as pyoderma gangrenosum. It can be detrimental to misdiagnose the ulcers due to subcutaneous arteriolosclerosis as pyoderma gangrenosum since they need a diametrically different approach.

scholarly journals Primary Monophasic Synovial Sarcoma of the Kidney: A Case Report and Review of Literature

2013 ◽  
Vol 7 ◽  
pp. CMO.S12243 ◽  
Author(s):  
Henrique Lopes ◽  
Caio A.D. Pereira ◽  
Luís E.R. Zucca ◽  
Sérgio V. Serrano ◽  
Sandra R.M. Silva ◽  
...  
Keyword(s):  
Synovial Sarcoma ◽  
Fusion Gene ◽  
Specific Treatment ◽  
Clinical Results ◽  
Renal Tumors ◽  
Review Of Literature ◽  
Rt Pcr ◽  
Product Analysis ◽  
Biphasic Pattern

Primary synovial sarcoma (SS) of the kidney is a rare neoplasm and its presenting features are similar to other common renal tumors, making early diagnosis difficult. To date, few cases have been reported in the literature. Primary renal SSs can exist in either a monophasic or a biphasic pattern, the former being more common and tending to have a better prognosis than the biphasic variant. Herein we describe a case of primary renal SS that was diagnosed based on histopathology and immunohistochemistry after radical nephrectomy. Fusion gene product analysis was also done by FISH and RT-PCR. Patient follow-up and literature review are presented, focused on systemic therapy. We highlight that these tumors should be correctly diagnosed as clinical results and specific treatment are distinct from primary epithelial renal cell carcinoma. Adjuvant chemotherapy should be tailored for each patient in the management of disease, although its role still remains unclear.

scholarly journals Differential Diagnosis and Surgical Management of Cerebellopontine Angle Cystic Lesions

2018 ◽  
Vol 22 (3) ◽  
pp. 110-115
Author(s):  
Tobias Alécio Mattei ◽  
Carlos R. Goulart ◽  
Julia Schemes De Lima ◽  
Ricardo Ramina
Keyword(s):  
Differential Diagnosis ◽  
Critical Review ◽  
Cerebellopontine Angle ◽  
Careful Consideration ◽  
Preoperative Imaging ◽  
Cystic Lesions ◽  
Diagnostic Challenge ◽  
Imaging Evaluation ◽  
Wide Range ◽  
Cystic Meningiomas

Cerebellopontine angle (CPA) tumors in adults are mainly  benign and extra-axial. Although the most common CPA lesion (vestibular schwannoma) is familiar to most neurosurgeons, cystic lesions of the CPA do pose an important diagnostic challenge demanding a careful consideration of a wide range of differential diagnosis including: epidermoid cysts, arachnoid cysts, cystic schwannomas, cystic meningiomas as well as other rare entities such as vascular and malignant tumoral lesions. The authors present a critical review of the current literature on cystic CPA lesions, providing an overview about possible differentials as well as guidelines for preoperative imaging evaluation of a cystic CPA lesion. 

scholarly journals A rare case of monophasic pleuropulmonary synovial sarcoma

F1000Research ◽  
2012 ◽  
Vol 1 ◽  
pp. 63
Author(s):  
Rateesh Sareen ◽  
Pandey Chandralekha ◽  
Mohit Sareen ◽  
Akanksha Dutt
Keyword(s):  
Differential Diagnosis ◽  
Soft Tissue ◽  
Synovial Sarcoma ◽  
Solitary Fibrous Tumor ◽  
Rare Case ◽  
Soft Tissue Tumor ◽  
Diagnostic Challenge ◽  
Unusual Location ◽  
Tissue Tumor ◽  
Fibrous Tumor

Pleuropulmonary synovial sarcoma is a diagnostic challenge. Synovial sarcoma is a soft tissue tumor of joints and extremities and are rarely seen in the mediastinum. We report this tumor at a very unusual location – the mediastinum in a 40-year-old female. The histopathology picture along with the location suggested a differential diagnosis of solitary fibrous tumor or mesothelioma, but immunohistochemistry helped in reaching the diagnosis of synovial sarcoma.

scholarly journals A minute primary gastric synovial sarcoma with ulcer: a case report

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Kanako Yoshiyasu ◽  
Hiroshi Kono ◽  
Yudai Hojo ◽  
Yoshinori Ishida ◽  
Akio Tamura ◽  
...  
Keyword(s):  
Tumor Cells ◽  
Synovial Sarcoma ◽  
Soft Tissues ◽  
Fusion Gene ◽  
English Literature ◽  
Wedge Resection ◽  
The Body ◽  
Maximum Diameter ◽  
Positive Staining ◽  
Gastric Synovial Sarcoma

Abstract Background Synovial sarcomas are a rare type of high-grade sarcomas with unknown cell origin. They arise predominantly in the soft tissues but rarely in the stomach. We recently encountered a rare case of minute gastric synovial sarcoma. Case presentation A 61-year-old Japanese woman was pointed out edematous erosion at the body of the stomach. Biopsy specimen showed dense proliferation of spindle-shaped tumor cells mixed with smooth muscle fibers of the muscularis mucosae. Although the definite histological diagnosis was undetermined, the patient underwent laparoscopic wedge resection of the stomach. Histological examination of the resected sample revealed that the maximum diameter of the tumor was only 6 mm and that dense proliferation of rather uniform spindle tumor cells were observed mainly in the submucosa. Immunohistochemistry showed that they were positive for pan-keratin, CD99 and TLE1. SS18-SSX fusion-specific antibody gave diffuse positive staining to the tumor cells, and analysis using mRNA extracted from paraffin sections revealed that the tumor had SS18-SSX1 fusion gene. Thus, it was diagnosed as gastric synovial sarcoma, monophasic fibrous type. Conclusions Primary synovial sarcoma of the stomach is rare and only 47 cases have been reported in the English literature to date. The maximum diameter of the lesion of our case was 6 mm which is the smallest among them.

Disseminated tumor cells in bone marrow of breast cancer patients–Comparison of immunocytochemistry and RT-PCR

2006 ◽  
Vol 66 (S 01) ◽  
Author(s):  
T Fehm ◽  
S Becker ◽  
MJ Banys ◽  
G Becker-Pergola ◽  
S Duerr-Stoerzer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Bone Marrow ◽  
Cancer Patients ◽  
Tumor Cells ◽  
Disseminated Tumor Cells ◽  
Breast Cancer Patients ◽  
Rt Pcr
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