Sacral chordoma: a diagnosis not to be sat on?
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ABSTRACT:
SUBMITTER: Jeys L
PROVIDER: S-EPMC2269011 | biostudies-other | 2008 Apr
REPOSITORIES: biostudies-other
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Project description:2-Deoxy-2-[18F]fluoro-D-glucose ([18F]FDG) positron emission tomography (PET)/computed tomography (CT) is known to be a helpful imaging modality for sacral chordoma, but its detailed characteristics have not been fully described. The purpose of our study was to identify the [18F]FDG PET/CT imaging characteristics of sacral chordoma and compare them with other sacral malignancy. This retrospective study included patients who underwent [18F]FDG PET/CT because of a mass involving the sacrum. Investigated visual findings included visual score and distribution, and semiquantitative parameters measured included standardized uptake values (SUVmax, SUVpeak, SUVmean), tumor-to-liver ratio (TLR), metabolic tumor volume (MTV), total lesion glycolysis (TLG), and tumor size. Comparison studies and receiver operating characteristics (ROC) curve analysis were performed to differentiate between sacral chordoma and other sacral malignancy. Ten patients with sacral chordoma were finally included (M:F = 6:4, median age = 67 yr). On [18F]FDG PET/CT, sacral chordomas presented as a mass with minimal-moderate uptake with a usually heterogenous distribution. Compared with 12 patients with other sacral malignancies (M:F = 4:8, median age 42 yr), sacral chordoma showed a significantly lower TLR (median value 2.1 vs 6.3, P = .021). In ROC curve analysis, TLR showed the largest area under the curve (AUC) of 0.79 (cutoff ≤ 4.0; sensitivity 100.0%, specificity 58.3%; P = .004), and SUVmax showed the second largest AUC of 0.73 (cutoff ≤ 6.9; sensitivity 80.0%, specificity 66.7%; P = .034). [18F]FDG PET/CT of sacral chordoma showed minimal-moderate uptake. The TLR of [18F]FDG PET/CT was significantly lower than that of other sacral malignancy and was the most useful parameter for differentiating sacral chordoma, with the largest AUC. SUVmax could be another helpful semiquantitative parameter.
| S-EPMC10994510 | biostudies-literature
Project description:BackgroundWe report a unique case of synchronous sacrococcygeal chordoma in association with rectal invasive adenocarcinoma. Retrorectal tumors are a rare disease caused by a variety of pathologies. To our knowledge, no prior cases of such a coincidental finding of both cancers have been reported in the literature.Case presentationThis is the case of a 74-year-old white middle eastern man, with known hypertension under treatment, who presented with complaints of progressive lower back pain associated with urinary incontinence over the past 12 months. Magnetic resonance imaging (MRI) of the pelvis showed a large midline, well-defined, oval-shaped lesion replacing the sacrococcygeal portion of the spine, with extension to the presacral region. Computed tomography (CT)-guided Tru-Cut biopsy revealed features suggestive of chordoma. At surgery, we performed excision of the entire mass en bloc, sacrectomy with rectus abdominis myocutaneous flap reconstruction and end sigmoid colostomy. Surgical histopathology proved it to be sacral dedifferentiated chordoma and rectal invasive adenocarcinoma. Overall, the patient recovered well postoperatively, was discharged home with functional stoma and on permanent Foley catheter use.ConclusionTo the best of our knowledge, this is the only reported case of such a presentation, and sheds light on the approach and management. We hope that reporting such a case will add value to the medical literature.
| S-EPMC8040199 | biostudies-literature
Project description:Surgical resection margins are reportedly the most important predictor of survival and local recurrence with sacral chordomas. We examined the relevance of invasion of the surrounding posterior pelvic musculature (piriformis and gluteus maximus) at initial diagnosis to local recurrence after sacrectomy. We retrospectively reviewed 18 patients with histologically verified sacral chordoma seen at our institution between 1998 and 2005. There were 14 men and four women with a mean age of 65.1 years (range, 31-78 years). The average overall followup was 4.4 years (range, 0.5-10 years), 5.4 years for the living patients (range, 3-10 years), and 2.8 years for the deceased (range, 0.5-5.4 years). Local recurrence occurred in 12 patients (66%) 29 months postoperatively (range, 2-84 months). Six of these patients had wide excisions at initial surgery, five had marginal excisions, and one had an intralesional excision. Ten patients had wide surgical margins, six of whom (60%) had local recurrences. Tumor invasion of adjacent muscles at presentation was present in 14 patients, 12 of whom (85%) had local recurrences. Sacroiliac joint involvement was seen in 10 patients, nine of whom (90%) had local recurrences. The findings suggest obtaining wide surgical margins posteriorly, by excising parts of the piriformis, gluteus maximus, and sacroiliac joints, may result in better local disease control in patients with sacral chordoma.Level IV, prognostic study. See the Guidelines for Authors for a complete description of levels of evidence.
| S-EPMC2493011 | biostudies-other
Project description:Chordomas are rare slow growing, malignant bone tumors of the axial skeleton with no approved medical treatment. As the majority of chordomas express cMET and its ligand, HGF, and crosstalks between EGFR and MET-signaling exist, we aimed to explore cMET activity in chordoma cell lines and clinical samples. We investigated nine chordoma patients and four chordoma cell lines for cMET expression. Two clival and two sacral chordoma cell lines were tested for chromosomal abnormalities of the MET gene locus; we studied the influence of HGF on the autocrine secretion and migration behavior, as well as protein expression and phosphorylation. Two MET/ALK inhibitors were investigated for their effects on cell viability, cell cycle, cyclin alterations, apoptosis, and downstream signaling pathways. Moderate and strong expression of membrane and cytoplasmic cMET in chordoma patients and cell lines used, as well as concentration-dependent increase in phospho cMET expression after HGF stimulation in all four chordoma cell lines was shown. U-CH2, MUG-Chor1, and UM-Chor1 are polysomic for MET. Chordoma cell lines secreted EGF, VEGF, IL-6, and MMP9 upon HGF-stimulation. Sacral cell lines showed a distinct HGF-induced migration. Both inhibitors dose-dependently inhibited cell growth, induce apoptosis and cell-cycle arrest, and suppress downstream pathways. Heterogeneous responses obtained in our in vitro setting indicate that cMET inhibitors alone or in combination with other drugs might particularly benefit patients with sacral chordomas.
| S-EPMC8203686 | biostudies-literature
Project description:Next-generation RNA sequencing (NGS) was used for the combinatorial analysis of mRNA-miRNA gene expression profiles in sacral chordoma and nucleus pulposus samples, and to predict miRNA-mRNA regulatory networks with altered activity in chordoma. We identified a gene set including key regulators of the Hippo pathway, which is targeted by differently expressed miRNAs, and validated their altered expression by RT-qPCR. These newly identified miRNA/RNA interactions are predicted to have a role in the self-renewal process of chordoma stem cells, which might sustain the high rate of recurrence for this tumor.
2022-07-28 | GSE209695 | GEO
Project description:ImportanceMaximal resection is the preferred management for sacral chordomas but can be associated with unacceptable morbidity. Outcomes with radiotherapy are poor. Carbon ion radiotherapy (CIRT) is being explored as an alternative when surgery is not preferred.ObjectiveTo compare oncologic outcomes and treatment-related toxicity of CIRT and en bloc resection for sacral chordoma.Design, setting, and participantsUnivariable logistic regression was performed to evaluate the association between treatment type and oncologic and toxicity outcomes in this retrospective cohort study. Nearest-neighbor propensity score matching was used to match the CIRT cohort with the en bloc resection cohort and 10 National Cancer Database (NCDB) cohorts separately, with the objective of obtaining more homogeneous cohorts when comparing treatments. Patient- and tumor-related characteristics from 2 institutional cohorts were collected for patients diagnosed with sacral chordomas between April 1, 1994, and July 31, 2017. The NCDB was queried for data on patients with sacral chordoma from January 1, 2004, to December 31, 2016, as a comparator in overall survival (OS) analyses. Data analysis was conducted from February 24, 2020, to January 16, 2021.ExposuresEn bloc resection, incomplete resection, photon radiotherapy, proton radiotherapy, and CIRT.Main outcomes and measuresOverall survival was estimated using the Kaplan-Meier method and compared using the Cox proportional hazards model. Peripheral motor nerve toxic effects were scored using Common Terminology Criteria for Adverse Events, version 4.03.ResultsA total of 911 patients were included in the study (NCDB: n = 669; median age, 64 [IQR, 52-74] years; 410 [61.3%] men; CIRT: n = 188; median age, 66 [IQR, 58-71] years; 128 [68.1%] men; en bloc surgical resection: n = 54; median age, 53.5 [IQR 49-64] years, 36 [66.7%] men). Comparison of the propensity score-matched institutional en bloc resection and CIRT cohorts revealed no statistically significant difference in OS (CIRT: median OS, 68.1 [95% CI, 44.0-102.6] months; en bloc resection: median OS, 58.6 [95% CI, 25.6-123.5] months; P = .57; hazard ratio, 0.71 [95% CI, 0.25-2.06]; P = .53). The CIRT cohort experienced lower rates of peripheral motor neuropathy (odds ratio, 0.13 [95% CI, 0.04-0.40]; P < .001). On comparison of the propensity score-matched NCDB cohorts with the CIRT cohort, significantly higher OS was found for CIRT compared with margin-positive surgery without adjuvant radiotherapy (CIRT: median OS, 64.7 [95% CI, 57.8-69.7] months; margin-positive surgery without adjuvant radiotherapy: median OS, 60.6 [95% CI, 44.2-69.7] months, P = .03) and primary radiotherapy alone (CIRT: median OS, 64.9 [95% CI 57.0-70.5] months; primary radiotherapy alone: 31.8 [95% CI, 27.9-40.6] months; P < .001).Conclusions and relevanceThese findings suggest that CIRT can be used as treatment for older patients with high performance status and sacral chordoma in whom surgery is not preferred. CIRT might provide additional benefit for patients who undergo margin-positive resection or who are candidates for primary photon radiotherapy.
| S-EPMC8742192 | biostudies-literature
Project description: Not available
| S-EPMC11345221 | biostudies-literature
Project description:Conventional chordoma is a rare slow-growing malignant tumor of notochordal origin primarily arising at the base of the skull and sacrococcygeal bones. Chordoma may arise from its benign counterpart, benign notochordal cell tumors, and can also undergo dedifferentiation progressing into dedifferentiated chordoma. No study has directly compared the genomic alterations among these tumors comprising a morphologic continuum. Our prior study identified frequent chromosome 3p loss of heterozygosity and minimal deleted regions on chromosome 3 encompassing SETD2, encoding a histone methyltransferase involved in histone H3 lysine 36 trimethylation (H3K36me3). In the present study, we expanded our study to include 65 sacral conventional chordoma cases, 3 benign notochordal cell tumor cases, and 2 dedifferentiated chordoma cases using single nucleotide polymorphism (SNP) array, targeted next-generation sequencing analysis, and immunohistochemistry. We performed immunohistochemical analysis of histone, H3K36me3, and investigated whether there is any association between the clinical behavior and recurrent chromosome or aneuploidy or H3K36me3 protein expression. We found that there is increased genomic instability from benign notochordal cell tumor to conventional chordoma to dedifferentiated chordoma. The highly recurrent genomic aberration, chromosome 3p loss of heterozygosity (occurred in 70% of conventional chordomas), is correlated with longer relapse-free survival, but not with overall survival or metastasis-free survival in sacral chordoma. Chordomas demonstrate variable patterns and levels of H3K36me3 expression, and reduced expression of H3K36me3 showed marginally significant correlation with longer relapse-free survival. Copy number alterations in the genes encoding the H3K36me3 methylation transferase complex and demethylase may account for the altered H3K36me3 expression levels.
| S-EPMC8366418 | biostudies-literature
Project description:It is difficult to treat patients with an inoperable sarcoma adjacent to the gastrointestinal (GI) tract using carbon ion radiotherapy (C-ion RT), owing to the possible development of serious GI toxicities. In such cases, spacer placement may be useful in physically separating the tumor and the GI tract. We aimed to evaluate the usefulness of spacer placement by conducting a simulation study of dosimetric comparison in a patient with sacral chordoma adjacent to the rectum treated with C-ion RT. The sacral chordoma was located in the third to fourth sacral spinal segments, in extensive contact with and compressing the rectum. Conventional C-ion RT was not indicated because the rectal dose would exceed the tolerance dose. Because we chose spacer placement surgery to physically separate the tumor and the rectum before C-ion RT, bioabsorbable spacer sheets were inserted by open surgery. After spacer placement, 67.2 Gy [relative biological effectiveness (RBE)] of C-ion RT was administered. The thickness of the spacer was stable at 13-14 mm during C-ion RT. Comparing the dose-volume histogram (DVH) parameters, Dmax for the rectum was reduced from 67 Gy (RBE) in the no spacer plan (simulation plan) to 45 Gy (RBE) in the spacer placement plan (actual plan) when a prescribed dose was administered to the tumor. Spacer placement was advantageous for irradiating the tumor and the rectum, demonstrated using the DVH parameter analysis.
| S-EPMC8127650 | biostudies-literature
Project description:BackgroundChordoma is a rare bone cancer with an unknown etiology. TBXT is the only chordoma susceptibility gene identified to date; germline single nucleotide variants and copy number variants in TBXT have been associated with chordoma susceptibility in familial and sporadic chordoma. However, the genetic susceptibility of chordoma remains largely unknown. In this study, we investigated rare germline genetic variants in genes involved in TBXT/chordoma-related signaling pathways and other biological processes in chordoma patients from North America and China.MethodsWe identified variants that were very rare in general population and internal control datasets and showed evidence for pathogenicity in 265 genes in a whole exome sequencing (WES) dataset of 138 chordoma patients of European ancestry and in a whole genome sequencing (WGS) dataset of 80 Chinese patients with skull base chordoma.ResultsRare and likely pathogenic variants were identified in 32 of 138 European ancestry patients (23%), including genes that are part of notochord development, PI3K/AKT/mTOR, Sonic Hedgehog, SWI/SNF complex and mesoderm development pathways. Rare pathogenic variants in COL2A1, EXT1, PDK1, LRP2, TBXT and TSC2, among others, were also observed in Chinese patients.ConclusionWe identified several rare loss-of-function and predicted deleterious missense variants in germline DNA from patients with chordoma, which may influence chordoma predisposition and reflect a complex susceptibility, warranting further investigation in large studies.
| S-EPMC8197919 | biostudies-literature