Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Synchronous multiple primary malignancies of clear cell renal cell carcinoma with sarcomatoid, thyroid carcinoma: a case report.

ABSTRACT: Multiple primary malignant neoplasms (MPMNs) are defined as the presence of two or more malignancies with different histologies in the same patient. MPMNs are rare, accounting for fewer than 4% of all tumor cases. Depending on the time interval between the diagnosis of the different malignancies, they are classified as either simultaneous or metachronous MPMNs, with simultaneous being rarer in MPMNs. Here, we present a 63-year-old female patient presenting with multiple primary renal and thyroid carcinomas and discuss the risk factors, treatment options, and prognosis of rare dual carcinomas. We focus on managing multidisciplinary teams and selecting individualized treatment options to deliver valuable treatment strategies to patients.

SUBMITTER: Tan Y

PROVIDER: S-EPMC10335400 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Synchronous multiple primary malignancies of clear cell renal cell carcinoma with sarcomatoid, thyroid carcinoma: a case report.

Tan Yaxian Y Chen Xiaowen X Ye Mushi M Li Xiaofang X Liu Wenci W Liao Sihai S Xie Zhong Z Zuo Yufang Y

Frontiers in oncology 20230627

Multiple primary malignant neoplasms (MPMNs) are defined as the presence of two or more malignancies with different histologies in the same patient. MPMNs are rare, accounting for fewer than 4% of all tumor cases. Depending on the time interval between the diagnosis of the different malignancies, they are classified as either simultaneous or metachronous MPMNs, with simultaneous being rarer in MPMNs. Here, we present a 63-year-old female patient presenting with multiple primary renal and thyroid ...[more]

PMID: 37441417

Similar Datasets

Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma.

Project description:The presence of sarcomatoid features in clear cell renal cell carcinoma (ccRCC) confers a poor prognosis and is of unknown pathogenesis. We performed exome sequencing of matched normal-carcinomatous-sarcomatoid specimens from 21 subjects. Two tumors had hypermutation consistent with mismatch repair deficiency. In the remainder, sarcomatoid and carcinomatous elements shared 42% of somatic single-nucleotide variants (SSNVs). Sarcomatoid elements had a higher overall SSNV burden (mean 90 vs. 63 SSNVs, P = 4.0 × 10(-4)), increased frequency of nonsynonymous SSNVs in Pan-Cancer genes (mean 1.4 vs. 0.26, P = 0.002), and increased frequency of loss of heterozygosity (LOH) across the genome (median 913 vs. 460 Mb in LOH, P < 0.05), with significant recurrent LOH on chromosomes 1p, 9, 10, 14, 17p, 18, and 22. The most frequent SSNVs shared by carcinomatous and sarcomatoid elements were in known ccRCC genes including von Hippel-Lindau tumor suppressor (VHL), polybromo 1 (PBRM1), SET domain containing 2 (SETD2), phosphatase and tensin homolog (PTEN). Most interestingly, sarcomatoid elements acquired biallelic tumor protein p53 (TP53) mutations in 32% of tumors (P = 5.47 × 10(-17)); TP53 mutations were absent in carcinomatous elements in nonhypermutated tumors and rare in previously studied ccRCCs. Mutations in known cancer drivers AT-rich interaction domain 1A (ARID1A) and BRCA1 associated protein 1 (BAP1) were significantly mutated in sarcomatoid elements and were mutually exclusive with TP53 and each other. These findings provide evidence that sarcomatoid elements arise from dedifferentiation of carcinomatous ccRCCs and implicate specific genes in this process. These findings have implications for the treatment of patients with these poor-prognosis cancers.

| S-EPMC4776463 | biostudies-literature

Sarcomatoid-associated gene risk index for clear cell renal cell carcinoma.

Project description:Sarcomatoid renal cell carcinoma is a de-differentiated form of kidney cancer with an extremely poor prognosis. Genes associated with sarcomatoid differentiation may be closely related to the prognosis of renal cell carcinoma. The prognosis of renal cell carcinoma itself is extremely variable, and a new prognostic model is needed to stratify patients and guide treatment. Data on clear cell renal cell carcinoma with or without sarcomatoid differentiation were obtained from TCGA database, and a sarcomatoid-associated gene risk index (SAGRI) and column line graphs were constructed using sarcomatoid-associated genes. The predictive power of the SAGRI and column line graphs was validated using an internal validation set and an independent validation set (E-MTAB-1980). The SAGRI was constructed using four sarcoma-like differentiation-related genes, COL7A1, LCTL, NPR3, ZFHX4, and had a 1-year AUC value of 0.725 in the training set, 0.712 in the internal validation set, and 0.770 in the independent validation set for TCGA training cohort, with high model reliability. The molecular characteristics among the SAGRI subgroups were analyzed by multiple methods, and results suggested that the SAGRI-HIGH subgroup may benefit more from immunotherapy to improve prognosis. SAGRI satisfactorily predicted the prognosis of patients with clear cell renal cell carcinoma with or without sarcomatoid differentiation.

| S-EPMC9493111 | biostudies-literature

An exceedingly rare simultaneous incidental occurrence of synchronous primary malignancies; Invasive Ductal Carcinoma and Renal Cell Carcinoma in a male - A Case Report.

Project description:Introduction and importanceSynchronous malignancies are defined as the emergence of one or more tumors which either occur simultaneously or within 6 months of each other. Populations older than 50 years of age are the most vulnerable. Documented prevalence rates of synchronous neoplasia are 4.5-11.7 %. To the best of our knowledge, ours is the first documented case of synchronous primary incidental occurrence of Invasive Ductal Carcinoma (IDC) and Renal Cell Carcinoma (RCC) in a Middle Eastern male. This type of co-occurrence must be borne in mind because such neoplastic occurrence is potentially fatal. Documentation is essential to raise awareness and to decrease the resultant morbidity and mortality.Case presentationWe present a case of a 61-year-old male who presented to our clinic with a 22-day-history of gradual, painless, and disproportionate hypertrophy of his left breast. CT scan revealed incidental breast and right kidney masses. Therapeutic intervention included a modified radical mastectomy with Sentinel lymph node excision along with right radical nephrectomy.Clinical discussionTreatment of our patient was multimodal. Accurate radiological studying together with clinical examination helped us in making a diagnosis. Treatment options for this pathology consist of a combination of surgery and/or adjuvant therapy.ConclusionSynchronous IDC and RCC are an extremely rare co-occurrence, especially in males, particularly Middle Eastern males, and more specifically, those presenting asymptomatically as incidental findings. It is vital to further document and study such cases to establish innovative surgical techniques, screening modalities for males, and to overcome the consequential morbidity and mortality.

| S-EPMC9284067 | biostudies-literature

Genome wide analysis of sarcomatoid and non-sarcomatoid clear cell renal cell carcinoma

Project description:This SuperSeries is composed of the SubSeries listed below.

2015-06-18 | GSE59266 | GEO

Ipsilateral synchronous clear and papillary renal cell carcinoma: A case report and review of the literature.

Project description:Clear cell renal cell carcinoma and papillary renal cell carcinoma are the most common types of renal tumors. However, coexistence of both tumors in the same kidney is a rare condition. We report a 56-year old male who was found to have ipsilateral synchronous clear cell and papillary renal cell carcinoma in the left kidney. Review of related literature is provided to estimate the prevalence of similar cases.

| S-EPMC5724981 | biostudies-literature

Clear cell renal carcinoma synchronous with dedifferentiated liposarcoma: a case report and review of the literature.

Project description:BACKGROUND:Multiple primary malignant neoplasms are not frequent but are increasing in incidence. Some of them are associated with genetic syndromes such as von Hippel-Lindau syndrome and Li-Fraumeni syndrome. Dedifferentiated liposarcoma is one of the rarest soft tissue tumors, and clear cell renal carcinoma is the most frequent kidney cancer. The concomitant presence of these tumors is extremely rare; however, some cases have been reported, none of them presenting with liposarcoma of the limbs. We report an interesting case of a patient with synchronous multiple primary tumors presenting with a very rare liposarcoma associated with renal cell carcinoma (a very rare association). A review of the literature and a collection of similar cases published previously are also provided. CASE PRESENTATION:We report a case of a 62-year-old Hispanic man who presented to our institution with a left thigh mass compatible with dedifferentiated liposarcoma synchronous with metastatic clear cell renal carcinoma. Multiple treatment lines were provided with no response, with a further metastatic transformation. Genetic analysis by liquid biopsy showed some mutations that were not susceptible to targeted therapy. At the time of this report, the patient is undergoing palliative care because his nonresponsive metastatic disease persists. CONCLUSIONS:We present the first reported case of clear cell renal carcinoma synchronous with dedifferentiated liposarcoma of a limb. The association between renal cell carcinoma and dedifferentiated liposarcoma is unusual, and there are few reports of this presentation in the literature. More research about these tumors along with genetic tests needs to be performed to seek a better understanding of the fundamental basis of this rare association.

| S-EPMC6950918 | biostudies-literature

Molecular characterization of sarcomatoid clear cell renal cell carcinoma unveils new candidate oncogenic drivers.

Project description:Sarcomatoid clear-cell renal cell carcinomas (sRCC) are associated with dismal prognosis. Genomic alterations associated with sarcomatoid dedifferentiation are poorly characterized. We sought to define the genomic landscape of sRCC and uncover potentially actionable therapeutic targets. We assessed the genomic landscape of sRCC using targeted panel sequencing including patients with microdissected sarcomatoid and epithelial components. Along with common genomic alterations associated with clear-cell histology, we found that Hippo was one of the most frequently altered pathways in these tumours. Hippo alterations were differentially enriched in sRCC compared to non-sRCC. Functional analysis showed that Hippo members mutations were associated with higher nuclear accumulation of YAP/TAZ, core effectors of the Hippo pathway. In a NF2-mutant sRCC model, YAP1 knockdown and NF2 reconstitution suppressed cell proliferation, tumour growth and invasion, both in vitro and in vivo. Overall, we show that Hippo pathway alterations are a feature of sRCC, and enable the exploration of the Hippo pathway as a novel potential therapeutic target.

| S-EPMC6971072 | biostudies-literature

A nomogram based on the preoperative neutrophil-to-lymphocyte ratio to distinguish sarcomatoid renal cell carcinoma from clear cell renal cell carcinoma.

Project description:ObjectiveOur study aimed to assess the predictive value of the preoperative neutrophil-to-lymphocyte ratio(NLR) in distinguishing sarcomatoid renal cell carcinoma (SRCC) from clear cell renal cell carcinoma(CCRCC) and to developing a nomogram based on the preoperative NLR and other factors to distinguish SRCC from CCRCC.Materials and methodsThe database involved 280 patients, including 46 SRCC and 234 CCRCC. logistic analysis was conducted to select the variables associated with identifying SRCC preoperatively, and subgroup analysis was used to further validate the ability of NLR with preoperative identification of SRCC.In addition, The data were randomly separated into a training cohort(n=195) and a validation cohort(n=85). And an NLR-based nomogram was plotted based on the logistic analysis results. The nomogram was evaluated according to its discrimination, consistency, and clinical benefits.ResultsMultivariate analysis indicated that NLR, flank pain, tumor size, and total cholesterol(TC) were independent risk factors for identifying SRCC. The results of subgroup analysis showed that higher NLR was associated with a higher probability of SRCC in most subgroups. The area under the curve(AUC) of the training and validation cohorts were 0.801 and 0.738, respectively. The results of the calibration curve show high consistency between predicted and actual results. Decision Curve Analysis(DCA) showed clinical intervention based on the model was beneficial over most of the threshold risk range.ConclusionNLR is a potential indicator for preoperative differentiation of SRCC and CCRCC, and the predictive model constructed based on NLR has a good predictive ability. The new model could provide suggestions for the early identification of SRCC.

| S-EPMC10556675 | biostudies-literature

A case report of synchronous triple primary malignancies: Diffuse large B-cell lymphoma, rectal adenocarcinoma and hepatocellular carcinoma.

Project description:A 59-year-old man was admitted to our hospital in August 2020 because of fever with night sweats and weight loss. The patient was eventually diagnosed with synchronous triple primary malignancies: diffuse large B-cell lymphoma (DLBCL), rectal adenocarcinoma and hepatocellular carcinoma (HCC), which has not been reported previously. The patient initially received six cycles of R-Gemox chemotherapy targeting DLBCL, the response to the treatment was partial remission. We continued six cycles of R-CHOP therapy, and DLBCL achieved a complete remission to treatment. During R-CHOP chemotherapy, PD-1 inhibitor (Sintilimab) was used to control the disease progression of HCC, which was effective and tolerable. Subsequently, he successfully completed curative intent Dixon operation and right hemihepatectomy. The diagnosis and treatment for like these synchronous triple primary malignancies are a huge challenge, herein we provide our experience in this regard.

| S-EPMC9812437 | biostudies-literature

Independent Tumor Origin in Two Cases of Synchronous Bilateral Clear Cell Renal Cell Carcinoma.

Project description:Bilateral renal cell carcinomas (RCCs) pose a challenge for clinical treatment and management. Most bilateral RCCs are sporadic, and do not show a hereditary pattern indicative of VHL syndrome or other inherited cancers. The origin and evolution of these sporadic bilateral RCCs remains elusive. We obtained normal and tumor samples from two male patients suffering from early stage synchronous bilateral clear cell RCC (ccRCC), and analyzed genomic DNA using whole exome sequencing and bisulfite pyrosequencing. We detected distinct 3p loss of heterozygosity (LOH) in both tumors in each patient. Two tumors within the same patient harbored distinct driver mutations and different CpG hypermethylation sites in the VHL promoter. Moreover, tumors exhibit independent evolutionary trajectories. Therefore, distinct 3p LOH, combined with contingent driver gene mutations and independent VHL hypermethylation, led to independent tumor origin and parallel evolution of bilateral ccRCC in these two patients. Our results indicate that tumors in these two cases were not due to common germline oncogenic mutations. They were results of multiple de novo mutations in each kidney, rather than primary ccRCC with contralateral renal metastasis. Therefore, histopathologic and genetic profiling from single tumor specimen may underestimate the mutational burden and somatic heterogeneity of bilateral ccRCCs.

| S-EPMC4935960 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data