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  • 1
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    Dramatic response to entrectinib in a patient with malignant peripheral nerve sheath tumor harboring novel SNRNP70‐NTRK3 fusion gene
    Wiley ; 2023
    In:  Genes, Chromosomes and Cancer Vol. 62, No. 1 ( 2023-01), p. 47-51
    Details
    In: Genes, Chromosomes and Cancer, Wiley, Vol. 62, No. 1 ( 2023-01), p. 47-51
    Abstract: Neurotropic tropomyosin receptor kinase ( NTRK ) gene rearrangements have been reported in limited cases of sarcomas; however, to date, there has been only one report of such rearrangements in malignant peripheral nerve sheath tumors (MPNSTs). Herein, we describe a 51‐year‐old male patient with a buttock tumor arising from the sciatic nerve, which was diagnosed as MPNST with positive S‐100 staining, negative SOX10 staining, and loss of trimethylation at lysine 27 of histone H3 (H3K27me3) confirmed by immunohistochemistry. Soon after the resection of the primary tumor, the patient was found to have pulmonary and lymph node metastases. Chemotherapy with eribulin and trabectedin showed limited effects. However, the patient responded rapidly to pazopanib, but severe side effects caused discontinuation of the treatment. RNA panel testing revealed a novel fusion gene between Small Nuclear Ribonucleoprotein U1 Subunit 70 ( SNRNP70) gene and NTRK3 gene. Furthermore, loss of NF1, SUZ12, and CDKN2A genes was confirmed by DNA panel testing, which is compatible with a histological diagnosis of MPNST. SNRNP70 possesses a coiled‐coiled domain and seems to induce constitutive activation of NTRK3 through dimerization. In fact, immunohistochemistry revealed diffuse staining of pan‐TRK within tumor cells. Treatment with entrectinib, which is an NTRK inhibitor, showed a quick and durable response for 10 months. Although NTRK rearrangements are very rare in MPNST, this case highlights the importance of genetic testing in MPNST, especially using an RNA panel for the detection of rare fusion genes.
    Type of Medium: Online Resource
    ISSN: 1045-2257 , 1098-2264
    URL: Issue
    URL: Article
    DOI: 10.1002/gcc.v62.1
    DOI: 10.1002/gcc.23089
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 1018988-9
    detail.hit.zdb_id: 1492641-6
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  • 2
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    Clinical characteristics of undifferentiated pleomorphic sarcoma of bone and the impact of adjuvant chemotherapy on the affected patients: a population-based cohort study
    Oxford University Press (OUP) ; 2022
    In:  Japanese Journal of Clinical Oncology Vol. 52, No. 6 ( 2022-05-31), p. 589-598
    Details
    In: Japanese Journal of Clinical Oncology, Oxford University Press (OUP), Vol. 52, No. 6 ( 2022-05-31), p. 589-598
    Abstract: Clinical characteristics of undifferentiated pleomorphic sarcoma of bone are not elucidated. Herein, we clarify its clinical features and analyze the efficacy of adjuvant chemotherapy in patients with undifferentiated pleomorphic sarcoma of bone. Methods Prognostic factors and estimated disease-specific survival in 247 patients with primary undifferentiated pleomorphic sarcoma of bone were identified from a registry in Japan. The effect of adjuvant chemotherapy was evaluated in localized resectable cases, and the characteristics of the two groups treated with or without chemotherapy were adjusted using propensity score matching. Results The 5-year disease-specific survival rates were 47.4% in the entire cohort and 56.4 and 16.9% in the M0 and M1 groups, respectively. Multivariate disease-specific survival analysis revealed that metastasis on initial presentation and age ≥ 65 years were poor prognostic factors. Overall, 132 localized and resectable primary lesions were extracted. Adjuvant chemotherapy administration was a favorable prognostic factor (hazard ratio: 0.43, P = 0.04), and it significantly prolonged disease-specific survival compared with no adjuvant chemotherapy (5-year disease-specific survival: 78.8% vs. 51.8%, P = 0.008). Adjuvant chemotherapy prolonged disease-specific survival in patients with tumor size & lt;8 cm (5-year disease-specific survival: 100% vs. 54.6%, P = 0.02); however, its efficacy decreased in those with tumor size ≥8 cm (5-year disease-specific survival: 68.7% vs. 42%, P = 0.09). After propensity score matching, adjuvant chemotherapy was significantly associated with good disease-specific survival (P = 0.02). Conclusions Metastasis in the initial presentation was the poorest prognostic factor. On evaluating localized and resectable cases only, adjuvant chemotherapy significantly improved disease-specific survival, although its effect decreased in cases with large tumors.
    Type of Medium: Online Resource
    ISSN: 1465-3621
    URL: Article
    DOI: 10.1093/jjco/hyac017
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2022
    detail.hit.zdb_id: 1494610-5
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  • 3
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    Role of perioperative chemotherapy and radiotherapy for localized high-grade malignant peripheral nerve sheath tumor at the extremities and trunk wall: a population-based cohort study
    Oxford University Press (OUP) ; 2023
    In:  Japanese Journal of Clinical Oncology Vol. 53, No. 2 ( 2023-01-28), p. 138-145
    Details
    In: Japanese Journal of Clinical Oncology, Oxford University Press (OUP), Vol. 53, No. 2 ( 2023-01-28), p. 138-145
    Abstract: Primary tumor resection is the mainstay of treatment for malignant peripheral nerve sheath tumors. However, the efficacy of perioperative chemotherapy and radiotherapy for malignant peripheral nerve sheath tumors has not been elucidated. Methods This retrospective analysis based on a Japanese registry included patients with localized malignant peripheral nerve sheath tumors arising at the extremities and trunk wall. Disease-specific overall survival and local recurrence-free survival were estimated using the Kaplan–Meier method. A Cox regression model was used to identify prognostic factors. Characteristics of groups with or without chemotherapy were adjusted using propensity score matching. Results In total, 291 patients were included. The 5-year disease-specific overall survival rate was 70.6%. Multivariate analysis of disease-specific overall survival revealed that deep-seated tumors were a poor prognostic factor, but perioperative chemotherapy was not associated with disease-specific overall survival (hazard ratio, 0.81; 95% confidence interval, 0.45–1.43, P = 0.46). Local recurrence was observed in 55 patients (19.0%), and surgical margins (R1 and R2) were significant risk factors. Overall, perioperative chemotherapy did not prolong disease-specific overall survival (5-year disease-specific overall survival: 74.1% vs. 69.3%, P = 0.75) and had limited efficacy in the group with tumor size ≥ 5 cm, although the difference was not statistically significant (5-year disease-specific overall survival: 77.2% vs. 68.6%, respectively, P = 0.13). After adjustment by propensity score matching, perioperative chemotherapy significantly prolonged disease-specific overall survival (5-year disease-specific overall survival: 74.9% vs. 57.1%, P = 0.03), but this effect was not observed in local recurrence-free survival. In all patients, perioperative radiotherapy did not correlate with local recurrence-free survival (hazard ratio, 1.43; 95% confidence interval 0.78–2.62, P = 0.25). Conclusions Perioperative chemotherapy had limited efficacy for disease-specific overall survival in patients with localized malignant peripheral nerve sheath tumors.
    Type of Medium: Online Resource
    ISSN: 1465-3621
    URL: Article
    DOI: 10.1093/jjco/hyac178
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2023
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  • 4
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    Hemangioma of the Rib Mimicking Chondrosarcoma: A Report of Two Cases and Literature Review
    Hindawi Limited ; 2021
    In:  Case Reports in Orthopedics Vol. 2021 ( 2021-9-28), p. 1-5
    Details
    In: Case Reports in Orthopedics, Hindawi Limited, Vol. 2021 ( 2021-9-28), p. 1-5
    Abstract: Cases. Case 1 was a 58-year-old man who presented with an incidentally detected, slowly growing mass in the right hypochondrium area. An imaging study showed the mass arising from the 11th rib, with ill-defined margins and cortical destruction. Differential diagnoses included chondrosarcoma and metastatic malignant tumor. Open biopsy was associated with moderate bleeding (300 mL) despite small incision. Microscopic findings showed numerous irregular, dilated, and thin-walled vessels, consistent with the diagnosis of hemangioma of bone, and en bloc excision was performed with no surgical complication. Case 2 was a 49-year-old man who presented with an incidentally detected 4th rib mass with calcification on computed tomography scan. Chondrosarcoma was suspected according to imaging features. An open biopsy was considered to have a risk of tumor seeding because the tumor was located behind the scapula. En bloc excision of the tumor without biopsy was performed. The pathological findings were consistent with hemangioma of bone. Conclusion. We reported two cases of rare hemangioma arising from the rib, which mimicked chondrosarcoma. The preoperative diagnosis was challenging, both clinically and radiologically. Because biopsy for hemangioma of the rib is associated with a bleeding risk, the en bloc excision without biopsy can be a practical treatment option.
    Type of Medium: Online Resource
    ISSN: 2090-6757 , 2090-6749
    URL: Article
    DOI: 10.1155/2021/9996380
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2021
    detail.hit.zdb_id: 2684648-2
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  • 5
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    Atypical Neurofibromatous Neoplasm with Uncertain Biologic Potential in the Posterior Mediastinum of a Young Patient with Neurofibromatosis Type 1: A Case Report
    S. Karger AG ; 2022
    In:  Case Reports in Oncology Vol. 15, No. 3 ( 2022-11-8), p. 988-994
    Details
    In: Case Reports in Oncology, S. Karger AG, Vol. 15, No. 3 ( 2022-11-8), p. 988-994
    Abstract: Atypical neurofibromatous neoplasm with unknown biological potential (ANNUBP), proposed in a recent NIH consensus overview, is a rare precursor entity of malignant peripheral nerve sheath tumor (MPNST) in neurofibromatosis type 1 (NF1) patients. Only one report on imaging findings of ANNUBP is available. Herein, we present the case of a 19-year-old female, diagnosed with a mediastinal tumor by chance, who visited to our hospital. She had café-au-lait spots on her trunk and a past history of resected neurofibroma. Her family also had café-au-lait spots; therefore, an NF1-induced tumor was strongly suspected. MRI revealed a paravertebral mass of 7.5 cm in size consisting of an inner rim with low T2 signal intensity and an outer rim with high T2 intensity, which was similar to a target sign, adjacent to the pulmonary veins; the center of the tumor was well enhanced by gadolinium, and the peripheral region was myxoid and slightly enhanced. FDG-PET showed high FDG uptake, SUVmax of 8.5, although the peripheral region represented low FDG accumulation. CT-guided needle biopsy was repeated because of the suspicion of an MPNST, which resulted in the histopathological diagnosis of ANNUBP. Marginal tumor resection was performed, and the final post-resection histopathological diagnosis was ANNUBP transformed from neurofibroma; the region of ANNUBP lost p16 immunostaining, although it was retained in the peripheral region of the neurofibroma. There has been no recurrence or metastasis 1 year after treatment. In conclusion, ANNUBP could be represented as a well-enhanced homogeneous mass on MRI and a high FDG accumulated region on FDG PET/CT, as seen in MPNST, in NF1 patients.
    Type of Medium: Online Resource
    ISSN: 1662-6575
    URL: Article
    DOI: 10.1159/000526844
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2022
    detail.hit.zdb_id: 2458961-5
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  • 6
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    Body composition as a predictor of toxicity after treatment with eribulin for advanced soft tissue sarcoma
    Springer Science and Business Media LLC ; 2019
    In:  International Journal of Clinical Oncology Vol. 24, No. 4 ( 2019-4), p. 437-444
    Details
    In: International Journal of Clinical Oncology, Springer Science and Business Media LLC, Vol. 24, No. 4 ( 2019-4), p. 437-444
    Type of Medium: Online Resource
    ISSN: 1341-9625 , 1437-7772
    URL: Article
    DOI: 10.1007/s10147-018-1370-8
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2019
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  • 7
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    BRAF mutations and concurrent alterations in patients with soft tissue sarcoma
    Wiley ; 2023
    In:  Genes, Chromosomes and Cancer Vol. 62, No. 11 ( 2023-11), p. 648-654
    Details
    In: Genes, Chromosomes and Cancer, Wiley, Vol. 62, No. 11 ( 2023-11), p. 648-654
    Abstract: BRAF alterations, including V600E and non‐V600E mutations and fusions, in soft tissue sarcoma (STS) have been identified in a limited case series. Here, we aimed to evaluate the frequency of BRAF mutations and concurrent alterations in STS to understand their therapeutic action. In this retrospective analysis, we included data from 1964 patients with advanced STS who underwent comprehensive genomic profiling tests at hospitals in Japan between June 2019 and March 2023. The prevalence of BRAF and recurrent concurrent gene alterations were also investigated. BRAF mutations were detected in 24 (1.2%) of 1964 STS patients, with a median age of 47 (range 1–69) years. BRAF V600E was detected in 11 (0.6%) of the 1964 patients with STS, BRAF non‐V600E mutations in 9 (4.6%), and BRAF fusions were detected in 4 (0.2%). BRAF V600E was identified in 4 (0.2%) cases of malignant peripheral nerve sheath tumors. The most common concurrent alteration was CDKN2A (11 cases, 45.8%), and the frequency was equivalent to that of the BRAF V600E (5/11 cases, 45.5%) and non‐V600E (5/9 cases, 55.6%) groups. Recurrent concurrent alterations, such as TERT promoter mutations (7 cases, 29.2%), were detected at the same frequency in the V600E and non‐V600E groups. In contrast, TP53 alterations (4/9 cases, 44.4%) and mitogen‐activated protein kinase (MAPK)‐activating genes, including NF1 , GNAQ , and GNA11 (3/9 cases, 33.3%), were identified as relatively higher in the non‐V600E group than in the V600E group (each 1/11 case, 9.1%). We identified BRAF alterations at a rate of 1.2% in all patients with advanced STS. Among them, BRAF V600E and BRAF fusions account for 45.8% and 16.7%, respectively. Collectively, our findings support the clinical characteristics and therapeutic strategies for patients with BRAF ‐altered advanced STS.
    Type of Medium: Online Resource
    ISSN: 1045-2257 , 1098-2264
    URL: Issue
    URL: Article
    DOI: 10.1002/gcc.v62.11
    DOI: 10.1002/gcc.23182
    Language: English
    Publisher: Wiley
    Publication Date: 2023
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    detail.hit.zdb_id: 1492641-6
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  • 8
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    Role of adjuvant chemotherapy in patients with localized, undifferentiated pleomorphic sarcoma of soft tissue: a population-based cohort study
    Springer Science and Business Media LLC ; 2022
    In:  International Journal of Clinical Oncology Vol. 27, No. 4 ( 2022-04), p. 802-810
    Details
    In: International Journal of Clinical Oncology, Springer Science and Business Media LLC, Vol. 27, No. 4 ( 2022-04), p. 802-810
    Type of Medium: Online Resource
    ISSN: 1341-9625 , 1437-7772
    URL: Article
    DOI: 10.1007/s10147-021-02102-8
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
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  • 9
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    Prognostic factors and impact of surgery in patients with metastatic soft tissue sarcoma at diagnosis: A population-based cohort study
    Oxford University Press (OUP) ; 2021
    In:  Japanese Journal of Clinical Oncology Vol. 51, No. 6 ( 2021-05-28), p. 918-926
    Details
    In: Japanese Journal of Clinical Oncology, Oxford University Press (OUP), Vol. 51, No. 6 ( 2021-05-28), p. 918-926
    Abstract: Approximately 10% of the patients with soft tissue sarcoma show metastasis at initial diagnosis, and hence, poorer prognosis. However, the prognostic factors and whether definitive surgery for the primary lesion improves overall survival, especially when complete resection of metastasis is difficult, remain unclear. Methods This retrospective analysis was based on the Bone and Soft Tissue Tumor Registry in Japan. Patients with soft tissue sarcoma having metastasis at diagnosis were enrolled, excluding those with Ewing’s sarcoma, rhabdomyosarcoma and several other sarcomas with unique behavior and treatment strategies. Overall survival was estimated using the Kaplan–Meier method and compared among the common histologic subtypes. Multivariate analysis with the Cox regression model was used to identify the prognostic factors. Results In total, 1184 patients were included, with a median follow-up duration of 10 months (range: 1–83). The median overall survival was 21 months (95% confidence interval: 18.2–23.8). The multivariate analyses indicated that tumor size, grade and histologic subtypes significantly correlated with overall survival. Moreover, surgery for the primary lesion, in addition to surgery for metastases and chemotherapy, showed significant association with better survival. Conclusions The prognostic factors in patients with metastatic soft tissue sarcoma at diagnosis are generally similar to those in patients with localized disease. The overall survival in patients differed significantly according to histologic subtype. Surgical resection of primary lesions, especially those with a wide margin, may be an independent prognostic factor. Further studies are needed identify which subgroup of patients would benefit the most from primary lesion surgery.
    Type of Medium: Online Resource
    ISSN: 1465-3621
    URL: Article
    DOI: 10.1093/jjco/hyab033
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2021
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  • 10
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    Preoperative arterial embolization and wound complications after resection of malignant bone tumor in the pelvis: a nationwide database study
    Oxford University Press (OUP) ; 2022
    In:  Japanese Journal of Clinical Oncology ( 2022-07-11)
    Details
    In: Japanese Journal of Clinical Oncology, Oxford University Press (OUP), ( 2022-07-11)
    Abstract: Massive intraoperative blood loss is common in pelvic malignant bone tumor surgery, and preoperative arterial embolization may be used in selected cases. Preoperative arterial embolization reportedly increases wound complications in pelvic fracture surgery, but little evidence is available regarding pelvic bone tumor surgery. Methods Using a Japanese nationwide database (Diagnosis Procedure Combination database), we searched for patients who underwent pelvic malignant bone tumor surgery between July 2010 and March 2018. The primary endpoint was wound complications, defined as any wound requiring re-operation, negative pressure wound therapy or both. Univariate analyses (the chi-squared test for categorical variables, the unpaired t-test for continuous variables) and multivariate logistic regression analyses were performed to examine the association between preoperative arterial embolization and wound complications. Results Among the 266 eligible patients, 43 (16%, 43/266) underwent embolization and 69 (26%, 69/266) developed wound complications. In the univariate analyses, preoperative arterial embolization (P  & lt; 0.001), duration of anesthesia (P  & lt; 0.001), the volume of blood transfusion (P  & lt; 0.001) and duration of indwelling drain tube (P  & lt; 0.001) were associated with wound complications. In the multivariate logistic regression analysis, preoperative arterial embolization was significantly associated with wound complications (odds ratio, 3.92; 95% confidence interval, 1.80–8.56; P = 0.001). Conclusions Preoperative arterial embolization may be associated with increased wound complications after pelvic malignant tumor surgery.
    Type of Medium: Online Resource
    ISSN: 1465-3621
    URL: Article
    DOI: 10.1093/jjco/hyac100
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2022
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