| 101. |
- Nilbert, Mef, et al.
(författare)
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Complex karyotypic changes, including rearrangements of 12q13 and 14q24, in two leiomyosarcomas
- 1990
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Ingår i: Cancer Genetics and Cytogenetics. - 0165-4608. ; 48:2, s. 217-223
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Tidskriftsartikel (refereegranskat)abstract
- Cytogenetic investigation of short-term cultures from two leiomyosarcomas revealed complex karyotypic changes in both cases. The first tumor, a subcutaneous leiomyosarcoma of the knee, had the karyotype 70-80,XY, +X, +Y, +1, +1, +2, +2, +3, +3, +4, +4, +7, +7, +8, +8, +9, +10, +15, +15, +16, +16, +18, +19, +20, +21, +21, +22, +22,t(?;5)(5;21)(?;q35p11;q11), t(?;5)(5;21)(?;q35p11;q11), +del(11)(q22),der(13)t(12;13)(q13;q22),der(14)t(9;14)(p11;p11), +14p+, +t(20;?)(q13;?), +t(20;?)(q13;?), +2 mar. A polyploidized clone with 120-150 chromosomes was also observed. DNA flow cytometry revealed only one abnormal peak, corresponding to a DNA index of 1.76. The other tumor, a uterine leiomyosarcoma, had the karyotype 61-67, X, -X, +1, +3, +5, +6, +7, +8, +9, +12, +13, +15, +t(1;1)(p32;q32), +der(1)t(1;8)(p13;q11), +del(2)(p11), +del(2)(q22), +del(2)(q22), +del(3)(p13), +i(5p),t(8;14)(q24;q24), +der(8)t(8;14) (q24;q24), +del(10)(p12),der(11)t(11;15)(p15;q11),t(16;?)(p13;?),t(16;?)(q24;?), der dic(17) (17pter----cen----17q25::hsr::17q25----cen----17pte r), +t(19;?)(p13;?), +der dic(20)(20pter----cen----20q12::hsr::20q12----cen----+ ++20pter), +mar. The DNA index was 1.59. The finding in these leiomyosarcomas of rearrangements of the same regions of chromosomes 12 and 14 that are involved in the tumor-specific t(12;14)(q14-15;q23-24) of uterine leiomyoma indicates that the same genes in 12q and 14q might be important in the pathogenesis of benign and malignant smooth muscle tumors.
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| 102. |
- Nilbert, Mef, et al.
(författare)
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Diagnostic pathway efficacy for urinary tract cancer : population-based outcome of standardized evaluation for macroscopic haematuria
- 2018
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Ingår i: Scandinavian Journal of Urology. - : Medical Journals Sweden AB. - 2168-1805 .- 2168-1813. ; 52:4, s. 237-243
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Tidskriftsartikel (refereegranskat)abstract
- Objective: This study assessed a national healthcare intervention launched in Sweden in 2015 to reduce the time between macroscopic haematuria, diagnosis and treatment of urinary tract cancer. Methods: The outcome of the first 11 months was evaluated in 1697 individuals referred to a standardized care pathway for urinary tract cancer compared with 174 patients with conventionally diagnosed urothelial carcinoma. Results: Among the referred individuals, 317 (19%) were diagnosed with cancer, 1034 (61%) had a benign diagnosis and 345 (20%) had a negative evaluation. Bladder cancer was the most common malignant diagnosis [262/317 (83%)]. Cancers were diagnosed in 23% of males and 13% of females, and showed a strong correlation with age: cancer diagnosis in 2% aged <50 years and in 44% aged ≥90 years. Results were affected by bacteriuria but not by anticoagulant medication, with 12%/22% and 19%/19% cancer detection, respectively. The standardized care pathway shortened the diagnostic delay to a median of 25 days compared to 35 days for regular referral (p =.01). However, median time to treatment was unchanged: 39 days from referral to transurethral resection, 42 days from primary resection to re-resection for stage TaG3/T1 disease and 100 days from referral to curative treatment for muscle-invasive disease. Conclusions: Macroscopic haematuria had a cancer capture rate of 19%, with higher predictive values in men and at older age, whereas anticoagulant therapy did not influence the diagnostic yield. The demonstrated lack of effect on time to treatment underscores the need to consider the entire patient process when initiating healthcare reforms to improve outcome.
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| 103. |
- Nilbert, Mef, et al.
(författare)
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Ewing's sarcoma treatment in Scandinavia 1984-1990--ten-year results of the Scandinavian Sarcoma Group Protocol SSGIV
- 1998
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Ingår i: Acta Oncologica. - 1651-226X. ; 37:4, s. 375-378
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Tidskriftsartikel (refereegranskat)abstract
- A report on the long-term follow up of the first cooperative Scandinavian Sarcoma Group study in Ewing's sarcoma of bone is presented. Fifty-two previously untreated patients entered the study between 1984 and 1990. Half of the tumors were located in the extremities and one quarter in the pelvis. The combined modality treatment consisted of 5 cycles of chemotherapy--including vincristine, methotrexate, doxorubicin, cyclophosphamide, bleomycin and dactinomycin. The first two cycles were followed by local resection or amputation in 35 patients and by radiotherapy alone in 17 patients. When surgery was not performed, was incomplete or yielded poor margins radiotherapy was given at a dose of 40-60 Gy. Local tumor relapses developed in 10 patients and in all but one patient were accompanied by metastatic disease. Five patients had metastasis at diagnosis and distant metastases developed after primary treatment in 27 patients after a median of 14 months. The median follow-up time for the 20 surviving patients is 10 years. At 5 years the tumor-related survival was 46% and the metastasis-free survival 43%. Late tumor relapses occurred in 4 patients, which reduced the 10-year tumor related survival to 41% and the metastasis-free survival to 38%. Histopathological tumour response correlated with survival with 5-year metastasis-free survival rates of 73% for the good responders and 35% for the poor responders.
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| 104. |
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| 105. |
- Nilbert, Mef, et al.
(författare)
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Lessons from genetic profiling in soft tissue sarcomas
- 2004
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Ingår i: Acta Orthopaedica Scandinavica. Supplementum. - : Medical Journals Sweden AB. - 0300-8827 .- 0001-6470. ; 75:Supplement 311, s. 35-50
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Tidskriftsartikel (refereegranskat)
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| 106. |
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| 107. |
- Nilbert, Mef, et al.
(författare)
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Role for Genetic Anticipation in Lynch Syndrome.
- 2009
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Ingår i: Journal of Clinical Oncology. - 1527-7755. ; 27, s. 360-364
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Anticipation (ie, an earlier age at onset in successive generations) is linked to repeat expansion in neurodegenerative syndromes, whereas its role in hereditary cancer is unclear. We assessed anticipation in Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), in which DNA mismatch repair (MMR) defects cause early and accelerated tumor development with a broad tumor spectrum. PATIENTS AND METHODS: In the population-based Danish HNPCC registry, 407 MMR gene mutation carriers who had developed cancer associated with Lynch syndrome, were identified. These individuals formed 290 parent-child pairs in which age at the first cancer diagnosis was assessed. A paired t-test and a specifically developed bivariate model were used to assess a possible role of anticipation. RESULTS: Both methods revealed anticipation with children developing cancer mean 9.8 years (P < .001) earlier than parents using the paired t-test and 5.5 years (P < .001) earlier using the bivariate model. Birth cohort effects were excluded since anticipation with 7.2 years earlier age at onset was identified also in the oldest cohort, in which the children were observed until they were older than 80 years. The effect remained when cancers diagnosed at surveillance were excluded, applied to maternal as well as paternal inheritance, and was independent of the MMR gene mutated. CONCLUSION: The effect from anticipation demonstrated in this large, population-based Lynch syndrome cohort underscores the need to initiate surveillance programs at young age. It should also stimulate research into the genetic mechanisms that determine age at onset and whether the genetic instability that characterizes Lynch syndrome can be linked to anticipation.
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| 108. |
- Nilbert, Mef, et al.
(författare)
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Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum
- 2009
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Ingår i: Familial Cancer. - : Springer Science and Business Media LLC. - 1389-9600 .- 1573-7292. ; 8:3, s. 209-213
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Tidskriftsartikel (refereegranskat)abstract
- Hereditary nonpolyposis colorectal cancer (HNPCC) is primarily linked to colorectal and endometrial cancer, but is associated with a broad tumor spectrum. Though not formally part of the syndrome, occasional sarcomas have been reported in individuals with HNPCC. We used the national Danish HNPCC-register to identify HNPCC families in which sarcomas had been diagnosed. Fourteen sarcomas were identified in families with mutations in MSH2, MSH6, and MLH1. The median age at sarcoma diagnosis was 43 (15-74) years. Soft tissue sarcomas predominated followed by uterine sarcomas and eight histopathological subtypes were represented with recurrent diagnoses of liposarcoma, leiomyosarcoma, and carcinosarcoma. Tumor tissue from eight cases was available for analysis of mismatch-repair (MMR) status using immunohistochemical staining and analysis of microsatellite instability, which revealed MMR defects in six of the eight tumors investigated. This suggests that sarcomas may be part of the HNPCC tumor spectrum and that colorectal cancer should be considered in the family history of sarcoma patients.
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| 109. |
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| 110. |
- Nilbert, Mef, et al.
(författare)
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The power of empirical data; lessons from the clinical registry initiatives in Scandinavian cancer care
- 2020
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Ingår i: Acta Oncologica. - 0284-186X. ; 59:11, s. 1343-1356
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Forskningsöversikt (refereegranskat)abstract
- Background: In Scandinavia, there is a strong tradition for research and quality monitoring based on registry data. In Denmark, Norway and Sweden, 63 clinical registries collect data on disease characteristics, treatment and outcome of various cancer diagnoses and groups based on process-related and outcome-related variables. Aim: We describe the cancer-related clinical registries, compare organizational structures and quality indicators and provide examples of how these registries have been used to monitor clinical performance, develop prediction models, assess outcome and provide quality benchmarks. Further, we define unmet needs such as inclusion of patient-reported outcome variables, harmonization of variables and barriers for data sharing. Results and conclusions: The clinical registry framework provides an empirical basis for evidence-based development of high-quality and equitable cancer care. The registries can be used to follow implementation of new treatment principles and monitor patterns of care across geographical areas and patient groups. At the same time, the lessons learnt suggest that further developments and coordination are needed to utilize the full potential of the registry initiative in cancer care.
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