Papillary tumor of the pineal region: a single-center experience.
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ABSTRACT:
SUBMITTER: Boßelmann CM
PROVIDER: S-EPMC7571506 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Papillary tumor of the pineal region (PTPR) is a neuroepithelial brain tumor, which might pose diagnostic difficulties and recurs often. Little is known about underlying molecular alterations. We therefore investigated chromosomal copy number alterations, DNA methylation patterns and mRNA expression profiles in a series of 24 PTPRs. Losses of chromosome 10 were identified in all 13 PTPRs examined. Losses of chromosomes 3 and 22q (54%) as well as gains of chromosomes 8p (62%) and 12 (46%) were also common. DNA methylation profiling using Illumina 450k arrays reliably distinguished PTPR from ependymomas and pineal parenchymal tumors of intermediate differentiation. PTPR could be divided into two subgroups based on methylation pattern, PTPR group 2 showing higher global methylation and a tendency toward shorter progression-free survival (P = 0.06). Genes overexpressed in PTPR as compared with ependymal tumors included SPDEF, known to be expressed in the rodent subcommissural organ. Notable SPDEF protein expression was encountered in 15/19 PTPRs as compared with only 2/36 ependymal tumors, 2/19 choroid plexus tumors and 0/23 samples of other central nervous system (CNS) tumor entities. In conclusion, PTPRs show typical chromosomal alterations as well as distinct DNA methylation and expression profiles, which might serve as useful diagnostic tools.
| S-EPMC8029206 | biostudies-literature
Project description: Not available
| S-EPMC11251120 | biostudies-literature
Project description:BackgroundGastrointestinal stromal tumor (GIST) is known for its wide variability in biological behaviors and it is difficult to predict its malignant potential. The aim of this study is to explore the characteristics and prognostic factors of GIST.MethodsClinical and pathological data of 497 GIST patients in our center between 1997 and 2012 were reviewed.ResultsPatients were categorized into very low-, low-, intermediate- and high-risk groups according to modified National Institutes of Health (NIH) consensus classification system. Among the 401 patients untreated with imatinib mesylate (IM), 5-year overall survival (OS) in very low-, low-, intermediate- and high-risk groups was 100%, 100%, 89.6% and 65.9%; and 5-year relapse-free survival (RFS) was 100%, 98.1%, 90.9% and 44.5%, respectively. Univariate analysis revealed that sex, tumor size, mitotic rate, risk grade, CD34 expression, and adjacent involvement were predictors of OS or RFS. COX hazard proportional model (Forward LR) showed that large tumor size, high mitotic rate, and high risk grade were independent risk factors to OS, whereas high mitotic rate, high risk grade and adjacent organ involvement were independent risk factors to RFS. The intermediate-high risk patients who received IM adjuvant therapy (n = 87) had better 5-year OS and RFS than those who did not (n = 188) (94.9% vs. 72.1; 82.3% vs. 56.3%, respectively). Similarly, advanced GIST patients underwent IM therapy (n = 45) had better 3-year OS and 1-year progression-free survival (PFS) than those who didn't (n = 42) (75.6% vs. 6.8%; 87.6% vs. 12.4%, respectively).ConclusionsVery low- and low-risk GISTs can be treated with surgery alone. Large tumor size, high mitotic rate, high risk grade, and adjacent organ involvement contribute to the poor outcome. IM therapy significantly improves the survival of intermediate-high risk or advanced GIST patients.
| S-EPMC4254179 | biostudies-literature
Project description:Genomewide DNA methylation array profiling and analysis of 76 new and public published Papillary Tumor of the Pineal Region (PTPR). The methylation idat profiles of 39 newly profiled tumors were provided here.
2024-07-19 | GSE254031 | GEO
Project description:BackgroundNephron sparing surgery (NSS) had become the main surgical treatment for bilateral nephroblastoma. But it remained a challenge for surgeons to balance the dilemma between complete tumor resection to reduce tumor recurrence and renal parenchyma preservation to reduce end-stage renal disease (ESRD). In this study, we summarized our clinical experience for bilateral Wilms tumors managed in our center and evaluated the influence of different surgical approaches on prognosis.MethodsThe clinical data of patients with bilateral Wilms tumor in our hospital from January 2010 to December 2020 were retrospectively analyzed, and the clinical symptoms, surgical approaches and prognosis of the disease were summarized.ResultsWe reviewed medical records of 16 patients, including 13 (81.3%) girls and 3 (18.7%) boys. The mean age of the patients was 17.88±11.65 months (range, 6-42 months). Five patients presented with hypertension and two presented with hemihypertrophy. Fifteen cases had synchronous tumors, while only one patient had metachronous bilateral lesions. Thirteen patients received neoadjuvant chemotherapy and only 8 kidneys (30.8%) responded to chemotherapy. Two patients gave up surgery, and the other fourteen patients underwent radical resection, of which 2 patients only underwent unilateral radical nephrectomy (RN); 7 and 5 patients underwent single-stage and two-stage operation for bilateral lesions, respectively. In all surgical patients, RN was performed on 5 kidneys, and NSS was performed on 21 kidneys. The positive margins after NSS were found in 6 kidneys (35.3%). After a median follow-up period of 26.3 months, local tumor recurrence and renal insufficiency occurred in two and one patients. The 5-year overall and event-free survival rates were 78.1% and 58.6%, respectively. In univariable analysis, the survival rate in the initial chemotherapy group (92.3%) was significantly higher than that in the initial surgery group (33.3%) (P=0.048), whereas positive margin and staged operation (P>0.05) appeared not significantly associated with overall survival.ConclusionsThe proportion of tumor reduction after preoperative chemotherapy is relatively low for bilateral Wilms tumor, but preoperative chemotherapy could improve overall survival. NSS is recommended for bilateral Wilms tumor, and the customized procedure can be selected according to the location and anatomical features of tumor.
| S-EPMC10928630 | biostudies-literature
Project description:Patient-derived tumor xenografts (PDTX) generally represent a kind of more reliable model of human disease, by which a potential drugs' preclinical efficacy could be evaluated. To date, no stable gastrointestinal stromal tumor (GIST) PDTX models have been reported. In this study, we aimed to establish stable GIST PDTX models and to evaluate whether these models accurately reflected the histological feature of the corresponding patient tumors and create a reliable GIST PDTX models for our future experiment. By engrafting fresh patient GIST tissues into immune-compromised mice (BALB/c athymic mice), 4 PDTX models were established. Histological features were assessed by a qualified pathologist based on H&E staining, CD117 and DOG-1. We also conduct whole exome sequencing(WES) for the 4 established GIST PDTX models to test if the model still harbored the same mutation detected in corresponding patient tumors and get a more intensive vision for the genetic profile of the models we have established, which will help a lot for our future experiment. To explore the tumorigenesis mechanism for GIST, we also have a statistical analysis for the genes detected as nonsynchronous-mutated simultaneously in 4 samples. All 4 GIST PDTX models retained the histological features of the corresponding human tumors, with original morphology type and positive stains for CD117 and DOG-1. Between the GIST PDTX models and their parental tumors, a same mutation site was detected, which confirmed the genetic consistency. The stability of molecular profiles observed within the GIST PDTX models provides confidence in the utility and translational significance of these models for in vivo testing of personalized therapies. To date, we conducted the first study to successfully establish a GIST PDTX model whose genetic profiles were revealed by whole exome sequencing. Our experience could be of great use.
| S-EPMC4858539 | biostudies-literature
Project description:BackgroundWe performed this retrospective study to identify predictors of right paraesophageal lymph node metastasis, and reviewed previous studies related to this topic.MethodsBetween June 2005 and March 2015, 1107 patients were diagnosed with papillary thyroid carcinoma and underwent surgery at Pusan National University Hospital.ResultsRight paraesophageal lymph node metastasis was observed in 171 (15.4%) patients. Multivariate analyses showed that the risk of right paraesophageal metastasis was significantly associated with tumor size, location, a higher number of metastatic central lymph nodes, and lateral lymph node metastasis. In a meta-analysis of the eligible studies, tumor size, number of metastatic central lymph nodes, and lateral lymph node metastasis showed significant relationships with the risk of right paraesophageal metastasis.ConclusionsIn patients with risk factors such as those identified in our study, the possibility of right paraesophageal metastasis should be kept in mind, and careful inspection and dissection are required.
| S-EPMC5435339 | biostudies-literature
Project description:Solitary fibrous tumor (SFT) is a mesenchymal neoplasm of fibrous origin. The 2013 WHO classification of soft tissue tumors defines malignant forms as hypercellular, mitotically active (>4 mitosis/10 high-power fields), with cytological atypia, tumor necrosis, and/or infiltrative margins. With an IRB-approved protocol, we investigated patient records and clinicopathologic data from our Sarcoma Database to describe the clinical characteristics of both benign and malignant SFT. All pathology specimens were reviewed by two pathologists. Descriptive statistics and univariate/multivariate survival analysis were performed. Patient records and Social Security Death Index were used to evaluate vital status. Of 82 patients, 47 (57%) were women and 73 (89%) were Caucasian. Median age was 62 years (range, 20 to 89). Thirty-two (39%) patients succumbed to the disease. Primary tumor site was lung/pleura in 28 (34%), abdomen/pelvis in 23 (28%), extremity in 13 (16%), and head/neck in 9 (11%) patients. Pathology was described as benign in 42 (51%) and malignant in 40 (49%) patients. Compared to benign SFT, malignant histology is associated with larger tumor size, higher mitotic counts, metastatic disease at diagnosis, and greater use of chemotherapy and radiation therapy. Gender, age, and tumor site were not significantly different between benign and malignant subtypes. By univariate analysis, only benign vs. malignant variant and complete resection positively impacted overall survival (P = 0.02 and P<0.0001, respectively). In the multivariable analysis of overall survival, receiving chemotherapy or not receiving surgery were two variables significantly associated with higher failure rate in overall survival: patients with chemotherapy vs. no chemotherapy (P = 0.003, HR = 4.55, with 95% CI: 1.68-12.34) and patients without surgery vs. with surgery (P = 0.005, HR = 25.49, with 95% CI: 2.62-247.57). Clear survival differences exist between benign and malignant SFT. While surgery appears to be the best treatment option for benign and malignant SFT, better systemic therapies are needed to improve outcomes of patients with metastatic, malignant SFT.
| S-EPMC4607370 | biostudies-literature
Project description:PurposeHepatoblastoma (HB) tumor rupture is currently considered as a high-risk factor in some risk stratification systems. This study aimed to investigate the value of HB tumor rupture in predicting the poor prognosis.MethodsThe clinical data from children with high-risk HB or HB tumor rupture at our institution from October 2008 to 2017 were retrospectively reviewed and analyzed.ResultsTogether, 34 children with high-risk HB or HB tumor rupture were retrospected, including 25 in the high-risk group and nine in tumor rupture group. The 3-year overall survival (OS) rate in tumor rupture group was significantly higher than that of the high-risk group (100 vs. 64%, p = 0.0427). In tumor rupture group, seven (77.8%) of nine patients had a hemoglobin level ≤ 8 g/L and 3 of them (33.3%) had ≤ 6 g/L at the time of diagnosis. Peritoneal perfusion with interleukin-2 was implemented for each patient. At the end of the treatment, seven (77.8%) of nine patients achieved complete response (CR). No patient died at the last follow-up.ConclusionsHB tumor rupture might not be predictive of poor prognosis with the risk of peritoneal dissemination/relapse, in which peritoneal perfusion with interleukin-2 could play a role.
| S-EPMC8980550 | biostudies-literature
Project description:Due to its rarity, male breast cancer remains a poorly characterized disease. The present study obtained retrospective clinicopathological data, treatment patterns and outcomes for all male patients diagnosed with breast cancer in the Oncology Department, Faculty Hospital Tren?ín (Tren?ín, Slovakia) over the last 20 years from January 1995 to December 2015. A total of 21 patients with male breast cancer were analyzed, with a median patient age of 65.6 years. Two patients were diagnosed with lobular invasive cancer; all others were diagnosed with cancer of a ductal origin. One patient presented with metastatic disease in the pleural cavity. The primary tumors in 8 patients were staged as pT1, whilst 6 patients were staged as pT2 and 7 as pT4. Axillary lymph node involvement was present in 11 patients (52%) and 15 patients were hormone receptor-positive (83%). All but 1 patient underwent mastectomy and surgical staging of the axilla. Adjuvant chemotherapy, radiotherapy and hormone treatment was administered in the same manner as breast cancer treatment in female patients. The median follow-up time was 4.5 years. The 5- and 10-year overall survival rates were 87 and 74%, respectively, and the estimated median disease-free survival for the same population was 9.5 years (95% confidence interval, 6.2-14.6). The survival rates reported in the present retrospective study are comparable with previously published studies. In addition, the current study reported predominant hormone-positive characteristics and rare expression of human epidermal growth factor receptor 2. However, further multi-institutional trials are required to allow for informed treatment decisions in this uncommon disease.
| S-EPMC4950425 | biostudies-other