Abstract:
:Recent advances in molecular biology have identified the responsible genes for many hereditary cancer syndromes (familial tumors). Therefore, now, the final diagnosis of familial tumors can be done by molecular methods to detect the genetic alteration in the disease-causing responsible gene(s) in the patient. So-called "genetic testing" is now available, not only as the diagnosis in the proband but also as the pre-symptomatic carrier diagnosis for unaffected family members. However, a number of issues, including legal, ethical, social, psychological, economic, and technical ones, surround and inhibit the clinical application of this testing, especially in Japan. As for molecular analysis to detect possible mutation in clinical specimens, highly sensitive scanning and detection methods are indispensable for screening nucleotide substitutions, including point mutations and single-nucleotide polymorphisms (SNPs). Also, several methods have been developed to screen and confirm the genetic alterations in familial tumors. These analytical techniques for detecting genetic alterations are categorized into four types, involving (1) scanning of nucleotide substitutions, (2) detection of defined mutations or SNPs, (3) size determination, and (4) DNA sequencing. Each technique has its advantages and disadvantages, and the technique in each case should be selected according to the purpose of the analysis. In this article, the concept of molecular diagnosis in familial tumors and the related molecular methods are described.
journal_name
Int J Clin Oncoljournal_title
International journal of clinical oncologyauthors
Tomita N,Oto Mdoi
10.1007/s10147-004-0421-5subject
Has Abstractpub_date
2004-08-01 00:00:00pages
246-56issue
4eissn
1341-9625issn
1437-7772journal_volume
9pub_type
杂志文章,评审abstract::A 76-year old woman presented with a large inguino-crural mass, multiple abdominal lymphoadenopathies, and neurological signs of spinal cord compression, first diagnosed as large-cell non-Hodgkin lymphoma. At subsequent clinical workup, a diagnosis of granulocytic sarcoma with meningeal involvement was made. Unfortuna...
journal_title:International journal of clinical oncology
pub_type: 杂志文章,评审
doi:10.1007/s10147-006-0645-7
更新日期:2007-06-01 00:00:00
abstract:BACKGROUND:Despite significant improvements in the prognosis of childhood acute lymphoblastic leukaemia (ALL), the risk of anthracycline-induced cardiovascular disease remains a major concern. This study was designed to investigate the role of the myocardial performance index (MPI) and serum concentrations of biomarker...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-012-0458-9
更新日期:2013-10-01 00:00:00
abstract::In Japan, the National Cancer Center and university hospitals have initiated next-generation sequencing-based in vitro diagnostic testing for cancer patients as a method of clinical sequencing. Based on the molecular alterations detected, physicians can provide approved targeted therapy and access to investigational d...
journal_title:International journal of clinical oncology
pub_type: 杂志文章,评审
doi:10.1007/s10147-018-1378-0
更新日期:2019-02-01 00:00:00
abstract::We report a patient with avascular necrosis of the bilateral femoral head resulting from long-term steroid administration for radiation pneumonitis that occurred after tangential irradiation of the breast. The patient was a 50-year-old postmenopausal woman with breast cancer, stage IIIB (T4bN0M0) in the right C area. ...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-006-0607-0
更新日期:2006-12-01 00:00:00
abstract:BACKGROUND:Several factors related to the immune system, such as a history of allergies and virus infections, may be associated with acute lymphoblastic leukemia (ALL). The purpose of this study was to analyze whether the presence of atopic diseases and previous infection with parvovirus B19 and Epstein-Barr virus (EBV...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-016-0988-7
更新日期:2016-10-01 00:00:00
abstract:BACKGROUND:Zoledronic acid treatment reduces the incidence of skeletal-related events (SREs) in patients with bone metastases from breast, lung, and urologic cancers including prostate and renal cancer. The aim of this study was to evaluate the effect of zoledronic acid on SREs in patients with bone metastases from bla...
journal_title:International journal of clinical oncology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10147-010-0074-5
更新日期:2010-08-01 00:00:00
abstract:BACKGROUND:No effective follow-up strategy for non-Hodgkin's lymphoma (NHL) has been identified to date. The aim of this study was to assess the value of a strict follow-up procedure in patients with NHL after they showed clinical remission. METHODS:One hundred and twenty-one patients with localized NHL of the head an...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-001-8032-x
更新日期:2001-12-01 00:00:00
abstract::Immune checkpoint inhibitors (ICI) such as PD-1/PD-L1 antibodies (Abs) and CTLA4 Abs and T cell-based adoptive cell therapies are effective for patients with various cancers. However, response rates of ICI monotherapies are still limited due to lack of immunogenic antigens and various immune-resistant mechanisms. The ...
journal_title:International journal of clinical oncology
pub_type: 杂志文章,评审
doi:10.1007/s10147-019-01611-x
更新日期:2020-05-01 00:00:00
abstract:BACKGROUND:Immune responses in the uterine cervix are considered to play an important role in persistent human papillomavirus (HPV) infection and carcinogenesis, but many aspects of the mechanism are still unclear. The goal of this study was to measure cytokines to analyze immune responses in patients with cervical int...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-014-0680-8
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:We evaluated the association between subclinical interstitial lung disease (ILD) and fatal radiation pneumonitis (RP) in patients with thoracic tumors treated with thoracic radiotherapy (RT). METHODS:Sixty-two consecutive patients with thoracic tumors treated with thoracic RT were retrospectively analyzed. ...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-014-0679-1
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:To report on our primary experience with the placement of a hydrogel spacer following stereotactic body radiation therapy (SBRT) in low- and intermediate-risk prostate cancer patients and assess its impact on dosimetry as well as acute toxicity. METHODS:A total of 70 patients treated with SBRT (total dose o...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-020-01855-y
更新日期:2021-01-07 00:00:00
abstract:OBJECTIVE:Most Brenner tumors are benign, with only 1% being malignant. In this study we report on 13 cases with malignant Brenner tumor of the ovary and discuss the clinical, demographic and histologic features. METHOD:Thirteen patients with malignant Brenner tumor of the ovary who were treated at Selçuk University G...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-011-0290-7
更新日期:2012-08-01 00:00:00
abstract::The two main malignant hepatic tumors in children are hepatoblastomas (HBLs) and hepatocellular carcinomas (HCCs). The past two decades have brought significant improvement to the outcomes of children diagnosed with malignant hepatic tumors, especially HBL, due to improvements in diagnosis and treatment. Histological ...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-013-0607-9
更新日期:2013-12-01 00:00:00
abstract::The mechanisms and clinical significance of lymph node involvement in ovarian cancer have been revealed since the International Federation of Gynaecology and Obstetrics (FIGO) introduced a new clinical staging including retroperitoneal lymph node status. The multiple directions of the lymph drainage pathway in ovarian...
journal_title:International journal of clinical oncology
pub_type: 杂志文章,评审
doi:10.1007/s10147-007-0672-z
更新日期:2007-06-01 00:00:00
abstract:BACKGROUND:Intrahepatic cholangiocarcinoma (IHCC) has a poor prognosis, and surgery remains the only effective treatment. However, tumor recurrence after primary hepatectomy is common. We examined the significance of repeat surgery for IHCC. METHODS:We collected data for all patients with IHCC between 1992 and 2018 (n...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-020-01775-x
更新日期:2020-12-01 00:00:00
abstract::Specific allelic losses in the DNA of tumor cells are potential indicators of postoperative prognosis. Patients whose tumors showed allelic losses at 1p34, 3p25, 8p22, 13q12, 17p13.3, or 17q21.1 had a significantly higher risk of postoperative mortality than women whose tumors retained both alleles at those loci (the ...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/pl00012082
更新日期:2001-02-01 00:00:00
abstract:BACKGROUND:The prognostic factors of pulmonary metastasectomy in patients with osteosarcoma and soft tissue sarcoma remain controversial. The purpose of our analysis was to explore the prognostic factors and outcomes of patients with osteosarcoma and soft tissue sarcoma who underwent pulmonary metastasectomy at our ins...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-019-01422-0
更新日期:2019-07-01 00:00:00
abstract:BACKGROUND:UFT is composed of tegafur, a prodrug of 5-fluorouracil, and uracil, at a fixed ratio of 1: 4. UFT is widely used with leucovorin as adjuvant chemotherapy in patients with colon cancer. As reported, UFT/leucovorin should not be taken simultaneously with food because a high fat content will reduce the systemi...
journal_title:International journal of clinical oncology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10147-009-0919-y
更新日期:2009-12-01 00:00:00
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journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-012-0377-9
更新日期:2013-04-01 00:00:00
abstract:BACKGROUND:Malignant change in fibrous dysplasia (FD) is very rare. This study was carried out to establish some characteristic clinical information about this disorder. METHODS:Four cases with a malignant change in FD out of 128 cases with FD were surgically treated and followed up for a median period of 61.3 months....
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-006-0559-4
更新日期:2006-06-01 00:00:00
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journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-019-01573-0
更新日期:2020-04-01 00:00:00
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journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-020-01717-7
更新日期:2020-09-01 00:00:00
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journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-020-01807-6
更新日期:2021-01-01 00:00:00
abstract::The original article can be found online. ...
journal_title:International journal of clinical oncology
pub_type: 杂志文章,已发布勘误
doi:10.1007/s10147-019-01395-0
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:We aimed to find the prognostic factors predicting overall survival (OS) in patients with castration-resistant prostate cancer (CRPC) who had docetaxel (DTX) chemotherapy, and to construct a model predicting the optimum number of cycles of DTX. METHODS:A total of 279 CRPC patients who received DTX (≥50 mg/m...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-013-0638-2
更新日期:2014-10-01 00:00:00
abstract:BACKGROUND:Surgical complication rates of total laryngectomy vary according to the preoperative treatments performed and patient factors. Wound complications after salvage laryngectomy following concurrent chemoradiotherapy (CCRT) were analyzed. METHODS:Eighty-six patients who had undergone total laryngectomy for lary...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-008-0787-x
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:Reactive oxygen species stimulate lymphatic metastasis by accelerating epithelial-to-mesenchymal transition and lymphangiogenesis in the tumor microenvironment. Hence, systemic oxidative stress level may correlate with nodal involvement in patients with a malignant tumor. METHODS:We examined 46 patients wit...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-011-0283-6
更新日期:2012-06-01 00:00:00
abstract:BACKGROUND:This study was conducted to determine the efficacy and safety of low-dose chemotherapy with methotrexate (MTX) and vinblastine (VBL) for patients with desmoid tumors refractory to meloxicam treatment, focusing in particular on the relationship between the efficacy of this chemotherapy and catenin β-1 (CTNNB1...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-015-0829-0
更新日期:2015-12-01 00:00:00
abstract::Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide. Recently, the incidence of oropharyngeal cancer (OPC) has increased markedly in comparison to that of HNSCC, which is associated with the use of tobacco or alcohol or both. This increase has resulted mainly from the global rise in...
journal_title:International journal of clinical oncology
pub_type: 杂志文章,评审
doi:10.1007/s10147-016-1005-x
更新日期:2016-10-01 00:00:00
abstract:BACKGROUND:Although many studies have already shown that lymph node metastasis is one of the major prognostic factors for cervical cancer, the therapeutic significance of para-aortic lymphadenectomy for the surgical treatment of cervical cancer remains controversial. METHODS:A total of 308 patients diagnosed with stag...
journal_title:International journal of clinical oncology
pub_type: 杂志文章
doi:10.1007/s10147-015-0907-3
更新日期:2016-04-01 00:00:00