scholarly journals Case Report: Molecular Characterization of Aggressive Malignant Retroperitoneal Solitary Fibrous Tumor: A Case Study

2021 ◽  
Vol 11 ◽  
Author(s):  
Haruna Nonaka ◽  
Shuya Kandori ◽  
Satoshi Nitta ◽  
Masanobu Shiga ◽  
Yoshiyuki Nagumo ◽  
...  
Keyword(s):  
Liver Metastases ◽  
Primary Tumor ◽  
Fusion Gene ◽  
Gene Mutations ◽  
Transcriptional Level ◽  
Tp53 Mutations ◽  
Mesenchymal Neoplasms ◽  
Target Dna ◽  
Fibrous Tumor ◽  
Metastatic Sites

Solitary fibrous tumors (SFT) are mesenchymal neoplasms with a favorable prognosis usually originating from the visceral pleura. Rarely, they may occur at various extrapleural sites and show malignant behavior coupled with dedifferentiation. NAB2-STAT6 fusion gene and STAT6 nuclear expression are biomarkers for diagnosis of SFT in addition to CD34, Bcl-2, and CD99. Furthermore, several reports have shown specific NAB2-STAT6 fusion variants and loss of STAT6 protein expression are associated with malignancy. We report a rare case of retroperitoneal SFT which rapidly progressed to death within 35 days after admission. Autopsy found a primary tumor containing both benign and malignant histologies, with multiple metastatic sites similar to the malignant, dedifferentiated tumor. STAT6 was detected in the primary differentiated tumor but not in the primary dedifferentiated tumor or lung/liver metastases. However, the NAB2-STAT6 fusion gene (NAB2ex6/STAT6ex16 variant) was detected in the primary tumor and lung/liver metastases. Intriguingly, fusion gene expression at the transcriptional level was downregulated in the dedifferentiated tumors compared to the differentiated tumor. We further performed target DNA sequencing and found gene mutations in TP53, FLT3, and AR in the dedifferentiated tumors, with TP53 mutations especially found among them. We demonstrate that downregulation of NAB2-STAT6 fusion gene at the transcriptional level is associated with malignant SFT for the first time. Moreover, the present study supports the idea that TP53 mutations promote malignancy in SFTs.

The impact of metastatic sites in metastatic colorectal cancer at initial diagnosis (MCCID)

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 14536-14536
Author(s):  
B. A. Leone ◽  
J. A. Lacava ◽  
A. O. Zwenger ◽  
J. Iturbe ◽  
J. E. Perez ◽  
...  
Keyword(s):  
Liver Metastases ◽  
Primary Tumor ◽  
Liver Involvement ◽  
Rank Test ◽  
Biochemical Modulation ◽  
Metastatic Site ◽  
Group A ◽  
Group B ◽  
Metastatic Sites ◽  
The Impact

14536 Background: The role of metastatic site in MCCID is unclear. The goal of this study is to evaluate if metastatic site influence survival in this setting of patients (P). Methods: Analyses were based on individual data of 300 P with MCCID treated with biochemical modulation of 5- Fluorouracil by Methotrexate regimens in different prospective trials conducted at GOCS Institutions since May 1984 to Aug 2000. P with surgical resection of liver metastases were not included in the analyses. 38 P were excluded for incomplete data. P were grouped according to metastatic sites into group A= Liver metastases only (n=161), group B= Liver and other metastatic sites (n=61) and group C= Non liver metastases (n=40) (lung, peritoneal, others). Different prognostic variables were considered: age, sex, PS, weight loss, size of liver metastases, unilateral or bilateral liver involvement, number of liver metastases, histologic differentiation of primary tumor, location of primary tumor, lactate dehydrogenase, alkaline phosphatase, ALT, AST and hemoglobin. Overall survival (OS) was analyzed since date of diagnosis by means of Kaplan-Meier and the Log-rank test was used to assess the differences. Results: The average follow-up time was 14.4 months (0–73.4). Clinical, laboratory and tumor characteristics were similar among groups A, B and C respectively. However P in group A had bigger size of liver metastases, higher number of them and more bilateral liver involvement respect to group B (p=0.02, p=0.03, p=0.05 respectively). Median OS in group A=21.0 months, group B=13.1 months and group C=15 months (p= 0.02). Statistical difference in OS was observed between group A and group B (p= 0.015). No difference was observed between groups A plus B vs the heterogeneous group C (p= 0.83) Conclusions: P with liver only metastatic site had better prognosis respect to those with other coexisting site of metastases despite presenting higher tumor burden in the liver. No factors analysed in the study explaine this difference. The subset of P with liver only metastatic site would be considered as a distinctive group and deserve further molecular studies. No significant financial relationships to disclose.

EGFR expresion in liver metastases in patients with colorectal cancer EGFR negative primary tumour and response to systemic chemotherapy

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 20104-20104
Author(s):  
Z. Petrovic ◽  
D. Tarabar ◽  
R. Doder
Keyword(s):  
Colorectal Carcinoma ◽  
Liver Metastases ◽  
Primary Tumor ◽  
Systemic Chemotherapy ◽  
Chemotherapy Regimen ◽  
Primary Tumour ◽  
Synchronous Liver Metastasis ◽  
Response To Chemotherapy ◽  
Metastatic Sites

20104 Background: To evaluate expresion of EGFR in liver metastases in patients with colorectal carcinoma EGFR immunohistochemistry (IHC) negative primary tumor and to evaluate response to systemic chemotherapy in this group of patients. Methods: A group of 19 patients with IHC negative EGFR in primary tumor with synchronous liver metastasis were analysed. All patients received irinotecan and/or oxaliplatin based chemotherapy regimen in combination with oral fluoropyrimidines - capecitabine. Results: 10 pts. had EGFR IHC positive expresion in liver metastases. EGFR IHC negative liver metastases were present in 9 pts. In patients with EGFR IHC negative liver metastases 2 pts. had PR, 1 pts. had SD and 6 pts. had PD after chemotherapy. In patients with EGFR IHC positive liver metastases 3 pts. had PR, 2 pts. had SD and 5 pts. had PD after chemotherapy. All pts. with PR were underwent to surgery and/or RFA. Pts. with SD and PD received cetuximab with previous systemic chemotherapy. PFS in this group of pts. is 4,1 month. Conclusions: This study is ongoing. At this moment the results do not support routine determination of EGFR status on distant metastatic sites in patients with colorectal carcinoma and for response to chemotherapy. No significant financial relationships to disclose.

scholarly journals A Comprehensive Review on Solitary Fibrous Tumor: New Insights for New Horizons

Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 2913
Author(s):  
Javier Martin-Broto ◽  
Jose L. Mondaza-Hernandez ◽  
David S. Moura ◽  
Nadia Hindi
Keyword(s):  
Solitary Fibrous Tumor ◽  
Fusion Gene ◽  
Current Knowledge ◽  
Fusion Transcript ◽  
Chemotherapeutic Agents ◽  
Comprehensive Review ◽  
Molecular Events ◽  
In Series ◽  
Prospective Phase ◽  
Fibrous Tumor

Solitary fibrous tumor (SFT) is a rare mesenchymal, ubiquitous tumor, with an incidence of 1 new case/million people/year. In the 2020 WHO classification, risk stratification models were recommended as a better tool to determine prognosis in SFT, to the detriment of “typical” or “malignant” classic terms. The risk for metastasis is up to 35–45%, or even greater, in series with a longer follow-up. Over the last few decades, advances in immunohistochemistry and molecular diagnostics identified STAT6 nuclear protein expression and the NAB2–STAT6 fusion gene as more precise tools for SFT diagnosis. Recent evidence taken from retrospective series and from two prospective phase II clinical trials showed that antiangiogenics are active and their sequential use from first line should be considered, except for dedifferentiated SFT for which chemotherapy is the best option. Since the fusion transcript driver’s first description in 2013, new insights have been brought on key molecular events in SFT. This comprehensive review mainly focuses on the superior efficacy of antiangiogenics over chemotherapeutic agents in SFT, provides the current knowledge of key molecules that could co-drive the SFT behavior, and suggests new target candidates that deserve to be explored in preclinical and clinical research in SFT.

scholarly journals Primary tumor location and the prognosis of patients after local treatment of colorectal liver metastases: a systematic review and meta-analysis

HPB ◽  
2020 ◽  
Vol 22 (3) ◽  
pp. 351-357 ◽  
Author(s):  
Florian E. Buisman ◽  
Boris Galjart ◽  
Stefan Buettner ◽  
Bas Groot Koerkamp ◽  
Dirk J. Grünhagen ◽  
...  
Keyword(s):  
Systematic Review ◽  
Liver Metastases ◽  
Primary Tumor ◽  
Colorectal Liver Metastases ◽  
Meta Analysis ◽  
Local Treatment ◽  
Tumor Location ◽  
Primary Tumor Location

scholarly journals Discordance of KRAS Mutational Status between Primary Tumors and Liver Metastases in Colorectal Cancer: Impact on Long-Term Survival Following Radical Resection

Cancers ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 2148
Author(s):  
Francesco Ardito ◽  
Francesco Razionale ◽  
Lisa Salvatore ◽  
Tonia Cenci ◽  
Maria Vellone ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Liver Metastases ◽  
Primary Tumor ◽  
Kras Mutation ◽  
Colorectal Tumor ◽  
Term Survival ◽  
Primary Tumors ◽  
Mutation Status ◽  
Primary Colorectal Tumor ◽  
Kras Mutation Status

If KRAS mutation status of primary colorectal tumor is representative of corresponding colorectal liver metastases (CRLM) mutational pattern, is controversial. Several studies have reported different rates of KRAS discordance, ranging from 4 to 32%. Aim of this study is to assess the incidence of discordance and its impact on overall survival (OS) in a homogenous group of patients. KRAS mutation status was evaluated in 107 patients resected for both primary colorectal tumor and corresponding CRLM at the same institution, between 2007 and 2018. Discordance rate was 15.9%. Its incidence varied according to the time interval between the two mutation analyses (p = 0.025; Pearson correlation = 0.2) and it was significantly higher during the first 6 months from the time of primary tumor evaluation. On multivariable analysis, type of discordance (wild-type in primary tumor, mutation in CRLM) was the strongest predictor of poor OS (p < 0.001). At multivariable logistic regression analysis, the number of CRLM >3 was an independent risk factor for the risk of KRAS discordance associated with the worst prognosis (OR = 4.600; p = 0.047). Results of our study suggested that, in the era of precision medicine, possibility of KRAS discordance should be taken into account within multidisciplinary management of patients with metastatic colorectal cancer.

scholarly journals Mesenchymal/non-epithelial mimickers of neuroendocrine neoplasms with a focus on fusion gene-associated and SWI/SNF-deficient tumors

2021 ◽  
Author(s):  
Atsuko Kasajima ◽  
Björn Konukiewitz ◽  
Anna Melissa Schlitter ◽  
Wilko Weichert ◽  
Jan Hinrich Bräsen ◽  
...  
Keyword(s):  
Fusion Gene ◽  
Soft Part ◽  
Neuroendocrine Neoplasms ◽  
Malignant Neoplasms ◽  
Gene Fusions ◽  
Complex Deficiency ◽  
Genetic Abnormalities ◽  
Mesenchymal Neoplasm ◽  
Epithelial Neoplasms ◽  
Fibrous Tumor

AbstractMimickers of neuroendocrine neoplasms (NEN) include a number of important pitfall tumors. Here, we describe our experience with mesenchymal mimics of NENs to illustrate their spectrum and draw the attention particularly to a group of mesenchymal/non-epithelial neoplasms (MN) that combine epithelioid histology with neuroendocrine (NE-) features and peculiar genetic abnormalities. In a consultation series of 4498 cases collected between 2009 and 2021, 2099 neoplasms expressing synaptophysin and/or chromograninA were reviewed and analyzed. A total of 364 (18%) were diagnosed as non-NENs, while the remaining tumors were NEN. The group of mesenchymal/non-epithelial neoplasms with NE-features (MN-NE) included 31/364 (8%) cases. These mostly malignant neoplasms showed an epithelioid morphology. While all but one tumor expressed synaptophysin, mostly patchy, only 10/29 (34%) co-expressed chromograninA. A total of 13/31 (42%) of the MN-NE showed EWSR1-related gene fusions (6 Ewing sarcomas, 5 clear cell sarcomas, and 1 desmoplastic small round cell tumor, 1 neoplasm with FUS-CREM gene fusion) and 7 (23%) were SWI/SNF (SMARCB1 or SMARCA4)-deficient neoplasms. The remaining MN-NE included synovial sarcoma, sclerosing epithelioid mesenchymal neoplasm, melanoma, alveolar soft part sarcoma, solitary fibrous tumor, and chordoma. A total of 27/31 MN-NE were from the last 8 years, and 6 of them were located in the pancreas. Eleven MN-NE were initially diagnosed as neuroendocrine carcinomas (NECs). MN-NE with epithelioid features play an increasing role as mimickers of NECs. They mostly belong to tumors with gene fusions involving the EWSR1 gene, or with SWI/SNF complex deficiency. Synaptophysin expression is mostly patchy and chromograninA expression is infrequent in MN-NE of this series and data extracted from literature.

632P Differential transcriptomic profiling of BCL2-related genes in primary tumor (PT) and metastatic sites (MS) of prostate cancer (PCa)

2021 ◽  
Vol 32 ◽  
pp. S665
Author(s):  
B.A. Carneiro ◽  
J. Yin ◽  
L. Soliman ◽  
A. De Souza ◽  
D. Golijanin ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Primary Tumor ◽  
Transcriptomic Profiling ◽  
Metastatic Sites

scholarly journals Primary tumor location affects recurrence-free survival for patients with colorectal liver metastases after hepatectomy: A propensity score matching analysis

2020 ◽  
Author(s):  
Yuanping Zhang ◽  
Yongjin Wang ◽  
Yichuan Yuan ◽  
Jiliang Qiu ◽  
Yuxiong Qiu ◽  
...  
Keyword(s):  
Propensity Score ◽  
Liver Metastases ◽  
Primary Tumor ◽  
Colorectal Liver Metastases ◽  
Tumor Location ◽  
Recurrence Free Survival ◽  
Primary Tumors ◽  
Free Survival ◽  
Primary Tumor Location ◽  
Before And After

Abstract Background: Whether primary tumor location of colorectal cancer (CRC) affects survival of patients after resection of liver metastases remains controversial. This study was conducted to investigate the differences in clinicopathological characteristics and prognosis between right-sided CRC and left-sided CRC patients with liver metastases after hepatectomy. Methods: From 2002 to 2018, 611 patients with colorectal liver metastases (CRLM) who underwent hepatectomy at our center were reviewed. Primary tumors located from cecum to transverse colon were defined as right-sided group (n = 141); tumors located from splenic flexure to rectum were defined as left-sided group (n = 470). Patients were compared between two groups before and after a 1:1 propensity score matching (PSM) analysis. Results: Before PSM, median survival time and 5-year overall survival (OS) rate in right-sided group were 77 months and 56.3%, and those in left-sided group were 64 months and 51.1%, respectively. After PSM, median survival time and 5-year OS rate in right-sided group were 77 months and 55.9%, and those in left-sided group were 58.8 months and 47.3%, respectively. The OS rates did not differ between two groups before and after PSM (P = 0.575; P = 0.453). However, significant different recurrence-free survival (RFS) rate was found before and after PSM between right-sided and left-sided group (P = 0.028, P = 0.003). Conclusions: Compared to patients with left-sided primary tumors, patients with right-sided primary tumors had a worse RFS but similar OS. Careful preoperative evaluation, intensive preoperative chemotherapy and frequent follow-up to detect early recurrence might be justified for CRLM patients with right-sided primary tumors.

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