scholarly journals Endometrial Carcinoma Presenting as Vasculitic Sensorimotor Polyneuropathy

2011 ◽  
Vol 2011 ◽  
pp. 1-3
Author(s):  
Marketa Vasku ◽  
Thomas Papathemelis ◽  
Nicolai Maass ◽  
Ivo Meinhold-Heerlein ◽  
Dirk Bauerschlag
Keyword(s):  
Endometrial Carcinoma ◽  
Primary Tumor ◽  
Standard Treatment ◽  
Metastatic Tumor ◽  
Sensorimotor Polyneuropathy ◽  
Sensorimotor Deficits ◽  
Underlying Malignancy ◽  
Paraneoplastic Polyneuropathy ◽  
Sporadic Cases ◽  
Recommended Therapy

Paraneoplastic syndromes (PNS) are a heterogeneous group of symptoms which are indirectly caused by primary or metastatic tumor. Paraneoplastic polyneuropathy (PNP) is mostly related to small cell lung cancer (5%), prostate, gastric, and breast cancer. Only sporadic cases have been reported to be associated with endometrial cancer. We present a case of a premenopausal woman with severe vasculitic, asymmetric sensorimotor polyneuropathy that developed in conjunction with an endometrial carcinoma responding to surgical therapy of primary tumor combined to steroid therapy. Neurological symptoms such as asymmetrical sensorimotor deficits and painful paresthesias are suspicious when they occur in otherwise healthy women with no medical history. The phenomenon of a paraneoplastic syndrome can point to an underlying malignancy and can be used as marker of progression or regression of the tumor. Due to the rarity of PNP, there is no standard treatment. Recommended therapy is stage-adjusted treatment of the primary tumor.

Change from triple negative type to triple positive type: A case report of discordance of re-biopsy from primary breast cancer

2020 ◽  
pp. 1-5
Keyword(s):  
Primary Tumor ◽  
Triple Negative ◽  
Lobular Carcinoma ◽  
Rare Event ◽  
Metastatic Tumor ◽  
Complete Response ◽  
Current Treatment ◽  
Positive Type ◽  
Impact On Treatment ◽  
The Right

The patient was a 60-year-old woman who had visited a clinic with the chief complaint of a mass in the right breast prior to being referred to our hospital. Breast examination revealed the presence of a 3-cm hard elastic mass in the C region of the right breast. Computed tomography (CT) further indicated metastases to the liver and lungs. Upon needle biopsy of the primary tumor, the patient was diagnosed with triple-negative (ER (-), PgR (-), HER2 (-)) invasive lobular carcinoma. Chemotherapy was successful in achieving a transient partial response (PR); however, the tumor later advanced to a progressive disease (PD) after five cycles of oral fluoropyrimidine derivative therapy (S-1). Re-biopsy of the primary tumor revealed that the tumor was triple-positive (ER (+), PgR (+), HER2 (+)). The patient was subsequently treated with anti-HER2 therapy and has since achieved complete response (CR). Although biological changes sometimes occur from the primary to the metastatic tumor, changes in the primary tumor itself during the course of treatment is a rare event. Furthermore, the transition from triple-negative to triple-positive status is very uncommon. Re-biopsy rarely changes the biological characteristics of a tumor; however, biological changes can have a significant impact on treatment if they do occur. Thus, it is important to perform a re-biopsy if the current treatment results in PD.

Disparate histologic responses in simultaneously resected primary and metastatic osteosarcoma following intravenous neoadjuvant chemotherapy.

1987 ◽  
Vol 5 (8) ◽  
pp. 1185-1190 ◽  
Author(s):  
J Nachman ◽  
M A Simon ◽  
L Dean ◽  
D Shermeta ◽  
P Dawson ◽  
...  
Keyword(s):  
Neoadjuvant Chemotherapy ◽  
Primary Tumor ◽  
Metastatic Tumor ◽  
Cell Heterogeneity ◽  
Newly Diagnosed ◽  
Histologic Response ◽  
Postoperative Therapy ◽  
Metastatic Osteosarcoma ◽  
Tumor Cell Heterogeneity ◽  
Response To Neoadjuvant Chemotherapy

Seven patients with newly diagnosed metastatic osteosarcoma underwent simultaneous resection of the primary tumor and metastases following intravenous (IV) neoadjuvant chemotherapy. Histologic response was assessed in all tumor specimens. Disparate responses were noted between primary tumor and metastases and, in some cases, between two or more metastatic tumor deposits. The diverse histologic response to neoadjuvant chemotherapy suggests tumor cell heterogeneity. Changing postoperative therapy on the basis of the histologic response induced in the primary tumor may not be appropriate.

Concordance of Genomic Variants in Matched Primary Breast Cancer, Metastatic Tumor, and Circulating Tumor DNA: The MIRROR Study

2019 ◽  
pp. 1-16 ◽  
Author(s):  
Fernando Moreno ◽  
Javier Gayarre ◽  
Sara López-Tarruella ◽  
María del Monte-Millán ◽  
Antonio C. Picornell ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Primary Tumor ◽  
Metastatic Breast ◽  
Metastatic Tumor ◽  
Circulating Tumor Dna ◽  
Primary Tumors ◽  
Genomic Variants ◽  
Ctdna Analysis ◽  
Tumor Dna

PURPOSE Genetic heterogeneity between primary tumors and their metastatic lesions has been documented in several breast cancer studies. However, the selection of therapy for patients with metastatic breast cancer and the search for biomarkers for targeted therapy are often based on findings from the primary tumor, mainly because of the difficulty of distant metastasis core biopsies. New methods for monitoring genomic changes in metastatic breast cancer are needed (ie, circulating tumor DNA [ctDNA] genomic analysis). The objectives of this study were to assess the concordance of genomic variants between primary and metastatic tumor tissues and the sensitivity of plasma ctDNA analysis to identify variants detected in tumor biopsies. PATIENTS AND METHODS Next-generation sequencing technology was used to assess the genomic mutation profile of a panel of 54 cancer genes in matched samples of primary tumor, metastatic tumor, and plasma from 40 patients with metastatic breast cancer. RESULTS Using Ion Torrent technology (ThermoFisher Scientific, Waltham, MA), we identified 110 variants that were common to the primary and metastatic tumors. ctDNA analysis had a sensitivity of 0.972 in detecting variants present in both primary and metastatic tissues. In addition, we identified 13 variants in metastatic tissue and ctDNA not present in primary tumor. CONCLUSION We identified genomic variants present in metastatic biopsies and plasma ctDNA that were not present in the primary tumor. Deep sequencing of plasma ctDNA detected most DNA variants previously identified in matched primary and metastatic tissues. ctDNA might aid in therapy selection and in the search for biomarkers for drug development in metastatic breast cancer.

Relationship of Ki-67 proliferative index and metastatic tumor of breast cancer.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e22190-e22190
Author(s):  
Kokoro Kobayashi ◽  
Yoshinori Ito ◽  
Akiko Ogiya ◽  
Naoya Gomi ◽  
Rie Horii ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Primary Tumor ◽  
Metastatic Tumor ◽  
Labeling Index ◽  
Proliferation Index ◽  
Luminal Breast Cancer ◽  
Line Treatment ◽  
Metastatic Tumors ◽  
Ki 67 ◽  
Primary Tumors

e22190 Background: The metastatic breast tumor tends to be more aggressive with high proliferation, but this has not been proven in clinical sampling of metastatic tumors. Methods: Forty-eight patients who had histological specimens of both primary and metastatic sites of luminal breast cancer (ER and/or PgR positive and HER2 negative) were examined. We classified them as luminal A (LA) with Ki-67 labeling index of less than 14% and as luminal B (LB) with Ki-67 labeling index of more than 14%. We analyzed their overall survival (OS) and progression free survival (PFS) of 1st line treatment of each subtype of primary and metastatic tumors. Results: Subtypes of primary tumors and metastatic tumors were as follows; the primary tumor: LA; 34 patients (70.8%), LB; 14 (29.2%), metastatic tumors: LA; 21 (43.8%), LB; 27 (56.2%). Patients with LA of the primary tumor demonstrated statistically longer OS (LA; 72.5 months, LB 39.6 months, p=0.009). OS depended on the subtype of the primary tumor. In contrast, patients with LB of a metastatic tumor showed a statistically worse PFS (LA; 20.5 months, LB; 11.5 months, p=0.040). PFS of the 1st line treatment for MBC depended on the subtype of the metastatic tumor. Conclusions: The frequency of LB was increased on metastatic tumors and tended to acquire a higher proliferation index. This suggests that characterization of metastatic tumors could be better as an indicator of subsequent treatment for MBC. [Table: see text]

DNA methylation signatures predicting liver metastasis of colorectal cancer: A proof-of-concept pilot study.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e16080-e16080
Author(s):  
Jianming Ying ◽  
Weihua Li ◽  
Kaihua Liu ◽  
Cong Xiao ◽  
Shuyu Wu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Liver Metastasis ◽  
Early Detection ◽  
Predictive Model ◽  
Primary Tumor ◽  
Metastatic Tumor ◽  
Training Data ◽  
Training Dataset ◽  
Tissue Samples ◽  
Normal Tissues

e16080 Background: Liver metastasis (LIM) is the leading cause of death in colorectal cancer (CRC) patients. Early detection of LIM may improve outcome in CRC patients. The aim of this study was to evaluate the feasibility of predicting LIM of CRC using methylation profiles. Methods: We performed Roche targeted (~5.5 million methylation sites) bisulfite sequencing of matched primary, metastatic and their adjacent normal tissue samples from 5 CRC patients with LIM, 5 patients with lung metastasis (LUM) and 8 patients without metastasis in the training cohort (n = 48 samples). Differential methylation regions (DMR) of LUM were identified and a predictive model was developed. The model was further validated in primary tumor sample from nine patients (6 with LIM). Results: By comparing primary tumor vs adjacent normal tissues and metastatic tumor vs adjacent normal tissues in CRC patients with LIM, we identified 28954 common DMRs which indicating the methylation characteristic of CRC with LIM. Similarly, 16187 DMRs were identified in patients with LUM. 9179 DMRs are shared in both LIM and LUM comparisons which should be the common characteristic of CRC tumor tissue regardless of the location of metastasis. 7008 DMRs are LUM specific and 19775 DMRs are LIM specific. In order to predict LIM in primary, early changes in LIM specific DMRs should be identified. Hence, we further selected 4134 DMRs by chossing significantly differentically methylated regions between LIM primary tissues and LUM primary tissues. To increase the ability of distinguishing LIM from other normal tissues and non-matastasis CRC tumors, 1215 DMRs were finally selected which also showed increasing or decreasing trend of methylation level through the progression of CRC. The final 1215 biomarkers were used to construct a random forest model using methlylation profile of 5 CRC patients with LIM as positive training data and 5 CRC patients with LUM as well as 8 patients without metastasis as negative training data. Through the feature recursive elimination method, one methylation site (chr8.72468901-72469000) was identified with ROC of 0.9 in the training dataset. The predictive model was validated in an independent dataset which is composed of 6 patients with LIM and 3 patients without metastasis, and achieved an AUC of 0.87. Conclusions: Our findings demonstrate the utility of methylation biomarkers for the molecular characterization of metastatic precursors, with implications for prediction and early detection of liver metastasis in CRC.

scholarly journals A Case of Biphasic Pulmonary Blastoma Treated with Carboplatin and Paclitaxel plus Bevacizumab

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Shinya Sakata ◽  
Sho Saeki ◽  
Sayuri Hirooka ◽  
Susumu Hirosako ◽  
Hidenori Ichiyasu ◽  
...  
Keyword(s):  
Surgical Resection ◽  
Standard Treatment ◽  
Lung Tumor ◽  
Early Stage ◽  
Fetal Lung ◽  
Metastatic Tumor ◽  
Pulmonary Blastoma

Background. Pulmonary blastoma is a rare lung tumor similar to fetal lung tissues. Surgical resection at early stage is more curative than other treatments, but there is no standard treatment in unresectable cases. We show a case treated with carboplatin and paclitaxel plus bevacizumab.Case. A 68-year-old man received surgical resection and was diagnosed with biphasic pulmonary blastoma (pT3N0M0 stage IIB). Metastasis to the spleen was detected six weeks after the surgery. Carboplatin, paclitaxel, and bevacizumab were administered and showed an effect on the metastasis. Four courses of the chemotherapy were completed, but a metastasis was found and the metastatic tumor in the spleen was enlarged. After that, chemotherapy was not effective afterward and he died of the progression of biphasic pulmonary blastoma on the 292nd day of illness.Conclusion. In this case, chemotherapy with carboplatin and paclitaxel plus bevacizumab was temporarily efficacious for biphasic pulmonary blastoma.

scholarly journals Whole-exome Sequencing Analysis for Mutations Characteristics in Recurrent or Metastatic Gastrointestinal Stromal Tumors

2021 ◽  
Author(s):  
Lingquan Wang ◽  
Wei Xu ◽  
Wenjing Zhang ◽  
Zhentian Ni ◽  
Xufeng wang ◽  
...  
Keyword(s):  
Overall Survival ◽  
Survival Time ◽  
Primary Tumor ◽  
Tumor Resection ◽  
Metastatic Tumor ◽  
Tumor Evolution ◽  
Sequencing Analysis ◽  
Driver Genes ◽  
Kaplan Meier ◽  
Whole Exome

Abstract Background: Surgical resection for the metastasis and recurrence of GIST was controversial. It is increasingly important to identify clinical factors related with survival and explore the driver genes and mutations in GIST.Methods: GIST patients who received two surgery for primary and recurrent and/or metastatic tumors between January 2003 and December 2018 were reviewed. Primary outcome was overall survival after reoperation. Kaplan-Meier , Cox proportional hazard regressions, and mean survival time were used to evaluate outcomes. Paired PT(primary tumor), RMT(recurrent and/or metastatic tumor) and normal DNA was whole- exome sequenced to generate comparable data for those specific 8 GIST cases. Results: We identified 39 eligible patients with a median overall survival time of 56.7 months(IQR:9.6-190.3months). Regular TKI(Imatinib) after primary tumor resection (HR:0.568; 95% confidence interval(CI):0.211-0.874; P=0.043) was associated with better OS, while presence of liver metastasis were prognostic for worse OS(HR:1.45; 95% CI:1.13-2.02;P=0.032) for those GIST patients who received re-surgery due to recurrent and/or metastatic tumor. Compared with normal tissue, we detected mutation on MUC family both in 8 PT and 7 RMT among the 8 patients. Only in irregular(TKI) group, the KIT mutations between PT and RMT contain correlations and differences, while its influence exist less on other cases. We also found that 31 genes which were direct correlation with coding regions may associated with RMT. We attained that the Spatial heterogeneity and temporal heterogeneity of the tumor reflected on mutation signature and subclone.Conclusions: The MUC mutations were supposed to be a potential predict to recurrent and/or metastatic GIST. The treatment of TKI could influence the KIT mutations on RMT of GIST. As the heterogeneity exist in PT and RMT, the direction of tumor evolution and progression were not stable and regular.

scholarly journals Hypoxia inducible factor signaling in breast tumors controls spontaneous tumor dissemination in a site-specific manner

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Vera M. Todd ◽  
Lawrence A. Vecchi ◽  
Miranda E. Clements ◽  
Katherine P. Snow ◽  
Cayla D. Ontko ◽  
...  
Keyword(s):  
Primary Tumor ◽  
Hypoxia Inducible Factor ◽  
Metastatic Tumor ◽  
Breast Tumors ◽  
Tumor Burden ◽  
Site Specific ◽  
Tumor Dissemination ◽  
Specific Manner ◽  
A Site ◽  
The Impact

AbstractHypoxia is a common feature in tumors and induces signaling that promotes tumor cell survival, invasion, and metastasis, but the impact of hypoxia inducible factor (HIF) signaling in the primary tumor on dissemination to bone in particular remains unclear. To better understand the contributions of hypoxia inducible factor 1 alpha (HIF1α), HIF2α, and general HIF pathway activation in metastasis, we employ a PyMT-driven spontaneous murine mammary carcinoma model with mammary specific deletion of Hif1α, Hif2α, or von Hippel-Lindau factor (Vhl) using the Cre-lox system. Here we show that Hif1α or Hif2α deletion in the primary tumor decreases metastatic tumor burden in the bone marrow, while Vhl deletion increases bone tumor burden, as hypothesized. Unexpectedly, Hif1α deletion increases metastatic tumor burden in the lung, while deletion of Hif2α or Vhl does not affect pulmonary metastasis. Mice with Hif1α deleted tumors also exhibit reduced bone volume as measured by micro computed tomography, suggesting that disruption of the osteogenic niche may be involved in the preference for lung dissemination observed in this group. Thus, we reveal that HIF signaling in breast tumors controls tumor dissemination in a site-specific manner.

scholarly journals Clinicopathological and Genomic Analysis of a Chinese ccRCC Patient with Multiple Morphologies and Rapid Progression : A Case Report

2020 ◽  
Author(s):  
Jing Yang ◽  
Junyun Wang ◽  
Yunshi Liang ◽  
Jianfei Wang ◽  
Jin Xv ◽  
...  
Keyword(s):  
T Cells ◽  
Cd8 T Cells ◽  
Peritoneal Metastasis ◽  
Primary Tumor ◽  
Genomic Analysis ◽  
Metastatic Tumor ◽  
Genetic Alterations ◽  
Biological Behavior ◽  
Papillary Structure ◽  
Sarcomatoid Differentiation

Abstract Background: Renal cell carcinoma (RCC) with sarcomatoid differentiation and multiple metastases is highly aggressive RCC with poor prognosis. However, there are not sufficient report on the genetic alterations and tumor immune microenviroment (TIME) of RCC with complex pathological morphology and aggressive behavior.Case presentation: A rare Chinese RCC case with complex pathological morphology and multiple subcutaneous and soft tissue metastases was reported. The clinical manifestations, histomorphology, immunophenotype and follow-up data were collected and analyzed. We performed target region sequencing and immunohistochemistry staining in different morphological regions of the primary tumor and the peritoneal metastasis. Microscopically, this primary tumor was composed of three different histological variations, including ccRCC like region, eosinophilic papillary structure and sarcomatoid differentiation. The peritoneal metastasis partially showed rhabdoid differentiation. IHC staining didn’t display positivity for characteristic markers. IHC for inflammatory cells showed that CD8+T cells and tumor associated neutrophils (TANs) were significantly increased in the sarcomatous areas and peritoneal metastatic tumor. Genomic analysis indicated that VHL mutations were present in all types of pathological regions and peritoneal metastatic tumor. Therefore, the pathological diagnosis of high-grade ccRCC with sarcomatoid differentiation was established. Additionally, we also found SETD2, TP53 and PDGFRA mutations were observed in sarcomatoid tumor area, whereas BRCA2, ATR, CYLD, YAP1 and COL5A3 mutations were specifically detected in peritoneal metastases. These findings are rather striking because some genes e.g., ATR serine/threonine kinase (ATR) and Hippo signaling (YAP1), PI3K-Akt signaling (PDGFRA) and T cell receptor signaling (COL5A3) were previously reported to be very rare in ccRCC patients.Conclusions: Using next-generation sequencing and TIME analysis, multiple low-frequency mutant genes including PDGFRA, ATR, YAP1 and COL5A3 and increased CD8+ T cells and neutrophils were detected in this rare Chinese ccRCC. These findings potentially provide new evidence and molecular markers for accurately assessing the biological behavior of ccRCC.

FGFR3 protein expression and gene mutation in primary and metastatic urothelial carcinoma (UC) tumors.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 4577-4577
Author(s):  
Jonathan E. Rosenberg ◽  
Lillian Werner ◽  
Aristotelis Bamias ◽  
Toni K. Choueiri ◽  
Fabio A. B. Schutz ◽  
...  
Keyword(s):  
Protein Expression ◽  
Therapeutic Target ◽  
Primary Tumor ◽  
Scoring Systems ◽  
Metastatic Tumor ◽  
Copy Number Gain ◽  
Tissue Microarrays ◽  
Metastatic Tumors ◽  
Primary Tumors ◽  
Fgfr3 Mutation

4577 Background: FGFR3 protein expression may represent a valid therapeutic target in metastatic UC. The prevalence of both mutation and overexpression is unknown in metastatic UC. Methods: Tissue microarrays of formalin fixed paraffin-embedded urothelial carcinomas (UC) were stained for FGFR3 by immunohistochemistry (IHC) [primary (n=250); metastatic (n=31); of which (n=14) were paired]. FGFR3 immunostaining was scored as negative or positive based on previously reported scoring systems. FGFR3 mutation in primary tumors was assessed by iPlex and confirmed by hME sequencing (n=141) or Affymetrix OncoScan FFPE Express 2.0 (primary: n=17; metastases n=31). Results: FGFR3 IHC positivity was present in 48% of metastases (95% CI=32-65%) and 26% of primary tumors, (95%=CI 21-32%), though strong staining was rare (<1%). Paired primary and metastatic tumors were both negative in 50% of cases, with 14% positive only in the metastasis, 14% positive only in the primary tumor, and 21% positive in both. If the primary tumor showed staining, 71% of the metastases showed staining. FGFR3 IHC staining did not impact overall survival (p=0.8). FGFR3 mutations were observed in 9.6% of metastatic tumors (95% CI=3.3-25%), compared to 3.5% of primary tumors (95% CI=1.5%-8%). Co-occurrence of mutation and FGFR3 DNA copy number gain was observed in one specimen. Conclusions: FGFR3 IHC staining is present 26 % of primary tumors of patients who go on to develop metastatic disease, and nearly half of metastatic tumor sites. FGFR3 mutation frequency in primary and metastatic tumor specimens is low. Further investigation of the frequency of FGFR3 protein expression in metastases is needed. The presence of FGFR3 protein by IHC staining in primary and metastatic specimens suggests that FGFR3 may represent a therapeutic target even in the absence of mutation. Further functional studies are needed.

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