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Journal of clinical pathology 17건

  1. [해외논문]   The new MedTech Europe directive: implications for educational activities in pathology and laboratory medicine   SCI SCIE

    Pillay, Tahir S (Department of Chemical Pathology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa)
    Journal of clinical pathology v.70 no.3 ,pp. 185 - 186 , 2017 , 0021-9746 ,

    초록

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

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  2. [해외논문]   T cell-rich lymphoid infiltrates with large B cells: a review of key entities and diagnostic approach   SCI SCIE

    Cheng, Chee Leong (Anatomical Pathology Department, Singapore General Hospital, , Singapore, Singapore ) , O'Connor, Simon (Haematological Malignancy Diagnostic Service, Centre for Molecular Pathology, The Royal Marsden Hospital, , Sutton, London, UK)
    Journal of clinical pathology v.70 no.3 ,pp. 187 - 201 , 2017 , 0021-9746 ,

    초록

    Accurate diagnostic interpretation of a lymphoid population composed predominantly of small T cells, together with smaller numbers of large B cells, with or without a nodular architecture, is a common problem faced by the histopathologist. The differential diagnosis of this histological pattern is wide, ranging from reactive conditions such as drug reactions and viral infections, through borderline entities such as immunodeficiency-related lymphoproliferative disorders to lymphomas. The latter includes entities where the large B cells are primarily neoplastic (classical and nodular lymphocyte-predominant Hodgkin lymphomas and T cell/histiocyte-rich large B cell lymphoma) as well as T cell lymphomas such as angioimmunoblastic T cell lymphoma where the large B cells represent an epiphenomenon and may or may not be neoplastic. Several rare variants of these conditions, and the fact that treatment can significantly modify appearances, add to the diagnostic difficulty of these pathological entities. Unlike monomorphic lymphoid infiltrates, the histological pattern of T cell-rich proliferation with large B cells requires close evaluation of the inter-relationship between B cells and T cells, follicular dendritic cells and sometimes other inflammatory cells. Epstein-Barr virus plays a key role in several of these scenarios, and interpreting not only its presence but also its distribution within cellular subgroups is essential to accurate diagnosis and the avoidance of some important diagnostic pitfalls. An understanding of normal immunoarchitecture and lymphoid maturational pathways is also fundamental to resolving these cases, as is a knowledge of their common patterns of spread, which facilitates correlation with clinical and radiological findings.

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

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  3. [해외논문]   RGS1 expression is associated with poor prognosis in multiple myeloma   SCI SCIE

    Roh, Jin (Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center, , Seoul, Korea ) , Shin, Su-Jin (Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center, , Seoul, Korea ) , Lee, A-Neum (Asan Institute for Life Sciences, University of Ulsan College of Medicine, Asan Medical Center, , Seoul, Korea ) , Yoon, Dok Hyun (Department of Oncology, University of Ulsan College of Medicine, Asan Medical Center, , Seoul, Korea ) , Suh, Cheolwon (Department of Oncology, University of Ulsan College of Medicine, Asan Medical Center, , Seoul, Korea ) , Park, Chan-Jeoung (Department of Laboratory Medicine, University of Ulsan College of Medicine, Asan Medical Center, , Seoul, Korea ) , Huh, Jooryung (Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center, , Seoul, Korea ) , Park, Chan-Sik (Department of Pathology, University of Ulsan College of Medicine, Asan Medical Center, , Seoul, Korea)
    Journal of clinical pathology v.70 no.3 ,pp. 202 - 207 , 2017 , 0021-9746 ,

    초록

    Aims Multiple myeloma (MM) is an invariably fatal disease with highly heterogeneous outcome. Because of this heterogeneity of MM, risk stratification is crucial for therapeutic decision-making. However, no immunohistochemical prognostic or predictive markers have been established yet. The expression of regulator of G-protein signalling (RGS) proteins, which desensitise G-protein-coupled receptor signalling, has been reported to be associated with the prognosis of various malignancies. Recently, our group demonstrated the importance of RGS1 in chemokine signalling in a human MM cell line and normal plasmablasts. In the present study, we explored the prognostic value of RGS1 expression in patients with MM using immunohistochemistry. Methods We evaluated RGS1 protein expression in 79 bone marrow biopsies obtained from patients with MM between 2008 and 2010 at Asan Medical Center. Correlations between RGS1 expression and clinicopathological factors were analysed. Results High RGS1 protein expression was significantly associated with poor overall survival (p=0.005). After an adjusted multivariable analysis, high RGS1 protein expression (p=0.010), high International Myeloma Working Group risk (p=0.003) and high serum lactate dehydrogenase levels (p=0.040) were significantly associated with poor outcomes. Conclusions RGS1 expression may be a prognostic marker for risk stratification and a promising target for the development of a new MM therapy.

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

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  4. [해외논문]   Lymphocytic oesophagitis, eosinophilic oesophagitis and compound lymphocytic–eosinophilic oesophagitis I: histological and immunohistochemical findings   SCI SCIE

    Rubio, C A (Department of Pathology, Karolinska Institute and University Hospital, , Stockholm, Sweden ) , Ichiya, T (Department of Medicine, Center for Digestive Diseases, Karolinska Institute and University Hospital, , Stockholm, Sweden ) , Schmidt, P T (Department of Medicine, Center for Digestive Diseases, Karolinska Institute and University Hospital, , Stockholm, Sweden)
    Journal of clinical pathology v.70 no.3 ,pp. 208 - 216 , 2017 , 0021-9746 ,

    초록

    Aims To report four histological–immunohistochemical oesophagitis phenotypes. Methods Oesophageal biopsies from 311 patients were stained with H&E and with CD3, a T cell marker. Additional immunohistochemical stains (n=413) were performed in 77 cases. Results Four histological–immunohistochemical oesophagitis phenotypes were recorded: lymphocytic oesophagitis (LyE, ≥40 CD3+ lymphocytes/HPF in CD3 immunostain), eosinophilic oesophagitis (EoE, ≥15 eosinophils/HPF in H&E stain), lymphocytic infiltration (≤39 CD3+/HPF) and compound lymphocytic oesophagitis–eosinophilic oesophagitis (Co LyE-EoE). At index biopsy, 28.3% (n=88) had LyE, 21.2% (n=66) EoE, 10.6% (n=33) Co LyE-EoE and 39.9% (n=124) lymphocytic infiltration. A persistent oesophagitis phenotype was found in 42.5% (37/87) in the first follow-up biopsy, in 34.4% (21/61) in the second follow-up biopsy and in 48.1% (26/54) in the third follow-up biopsy. Using βF1 immunostain, two different surface T cell receptors were detected in LyE and Co Lye-EoE: one having ≥40 βF1+/HPF (βF1+ high) and the other having <39 βF1+/HPF (βF1+ low). Conclusions Based on the literature regarding the significance of intraepithelial lymphocytes (IELs) in the initiation of EoE, we submit that the IEL phenotypes in LyE might differ from those found in EoE as they were unable to elicit the same eosinophilic response. Recent studies disclosed that group 2 innate lymphocytes (ILC2s), enriched in EoE, remain undetected in CD3 immunostain as they lack surface markers for T, B, natural killer (NK) or NK T cells. If ILC2s also participate in the lymphocytic infiltration of EoE, then the frequency of cases with Co LyE-EoE here reported might have been much higher. The four oesophagitis phenotypes described are easy to recognise, provided that the dual staining procedure (H&E-CD3) is implemented.

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

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  5. [해외논문]   Cadherin 5 expression correlates with poor survival in human gastric cancer   SCI SCIE

    Higuchi, Kyoko (Department of Gastrointestinal Surgery, Tokyo Medical and Dental University, , Tokyo, Japan ) , Inokuchi, Mikito (Department of Gastrointestinal Surgery, Tokyo Medical and Dental University, , Tokyo, Japan ) , Takagi, Yoko (Department of Surgical Specialties, Tokyo Medical and Dental University, , Tokyo, Japan ) , Ishikawa, Toshiaki (Department of Surgical Specialties, Tokyo Medical and Dental University, , Tokyo, Japan ) , Otsuki, Sho (Department of Gastrointestinal Surgery, Tokyo Medical and Dental University, , Tokyo, Japan ) , Uetake, Hiroyuki (Department of Surgical Specialties, Tokyo Medical and Dental University, , Tokyo, Japan ) , Kojima, Kazuyuki (Department of Minimally Invasive Surgery, Tokyo Medical and Dental University, , Tokyo, Japan ) , Kawano, Tatsuyuki (Department of Gastrointestinal Surgery, Tokyo Medical and Dental University, , Tokyo, Japan)
    Journal of clinical pathology v.70 no.3 ,pp. 217 - 221 , 2017 , 0021-9746 ,

    초록

    Aims Although expressed in tumour cells of various malignancies, cadherin 5 (CDH5), also known as vascular endothelial cadherin, plays an important role in homotypic cell–cell adhesion among epithelial cells. However, the clinical significance of CDH5 expression in gastric cancer has not been sufficiently demonstrated. In this study, CDH5 expression in gastric cancer was evaluated and the correlations between CDH5 expression and the clinicopathological features and outcomes of the disease were examined. Methods Differentiated-type gastric adenocarcinomas obtained from 102 patients who underwent gastrectomy were analysed. CDH5 expression was assessed by immunohistochemical staining of the membranes of the cancer cells. Results High CDH5 expression was significantly associated with the following clinicopathological variables related to tumour progression: depth of invasion (p=0.012), venous invasion (p=0.013), lymphatic invasion (p=0.001), metastatic lymph nodes (p=0.009), pathological stage (p=0.008) and distant metastasis or recurrent disease (p=0.009). Patients with high CDH5 expression had significantly poorer disease-specific survival (p=0.021), although CDH5 was not determined to be an independent prognostic factor by multivariate analysis. Conclusions CDH5 may play a key role in the progression or metastasis of differentiated-type gastric cancer and serve as a target for its treatment.

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

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  6. [해외논문]   On the histogenesis of mixed germ cell-sex cord stromal tumour of the gonads   SCI SCIE

    Roth, Lawrence M (Department of Pathology, Indiana University School of Medicine, , Indianapolis, Indiana, USA ) , Cheng, Liang (Department of Pathology, Indiana University School of Medicine, , Indianapolis, Indiana, USA)
    Journal of clinical pathology v.70 no.3 ,pp. 222 - 227 , 2017 , 0021-9746 ,

    초록

    Aims The origin of testicular mixed germ cell-sex cord stromal tumour (MGC-SCST) is uncertain, and the nature of this neoplasm is controversial. It has not been established whether the germ cells in testicular MGC-SCST are neoplastic or whether they are merely entrapped within an unclassified sex cord stromal tumour or related testicular neoplasm. In this investigation, we present additional evidence regarding the nature of the germ cells in testicular MGC-SCST. Methods We obtained 25 cases of MGC-SCST, 13 of which involved the testis and 12 occurred in the ovary for histological examination. Although the majority of the cases studied were archival, materials were available for immunocytochemical examination in 10 instances. Results We found that 10 of 13 testicular MGC-SCSTs studied had a sex cord component resembling unclassified sex cord stromal tumour. In two MGC-SCSTs that had prominent entrapped tubules, an intratubular component was identified. A total of 12 ovarian MGC-SCSTs were examined, and these neoplasms were more diverse in their histological appearance than the testicular examples. The germ cells often resembled those of dysgerminoma. Formation of imperfect follicular-like structures was a frequent feature in ovarian cases. Conclusions In this investigation, we provide further evidence that the germ cells in testicular MGC-SCSTs are neoplastic; however, in the great majority of tumours, these cells are low-grade. Some testicular MGC-SCSTs arise from an intratubular component. We believe that the majority of ovarian and some testicular MGC-SCSTs arise more directly from simultaneous transformation of germ cells and sex cord derivatives.

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

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  7. [해외논문]   Malignant peritoneal mesothelioma and Crohn disease   SCI SCIE

    Butnor, Kelly J (Department of Pathology, Duke University Medical Center, , Durham, North Carolina, USA ) , Pavlisko, Elizabeth N (Department of Pathology, Duke University Medical Center, , Durham, North Carolina, USA ) , Sporn, Thomas A (Department of Pathology, Duke University Medical Center, , Durham, North Carolina, USA ) , Roggli, Victor L (Department of Pathology, Duke University Medical Center, , Durham, North Carolina, USA)
    Journal of clinical pathology v.70 no.3 ,pp. 228 - 232 , 2017 , 0021-9746 ,

    초록

    Aims Mesothelial reaction simulating peritoneal diffuse malignant mesothelioma (MM) has been reported in the setting of Crohn ileitis. To our knowledge, peritoneal MM arising in patients with inflammatory bowel disease (IBD) has not been reported. The purpose of this study is to report the clinicopathological characteristics of patients with peritoneal MM and IBD. Methods A database of approximately 3800 MM was reviewed for cases of MM in patients with IBD. Results Three patients (0.08%) with peritoneal MM and Crohn disease (CD) were identified, including two women and one man ranging in age from 56 to 65 years. All had a long-standing history of diarrhoea and an established diagnosis of CD of 3 years or greater duration. Two had epithelial MM and one had biphasic MM. Only one had documented asbestos exposure. Conclusions Peritoneal MM occurs rarely in patients with IBD, but interestingly, has only been observed in the setting of CD and not in patients with ulcerative colitis. Chronic inflammation has been associated with the development of MM in rare instances and these three cases suggest that CD with transmural inflammation may also be a precursor. The precise role of CD-related transmural inflammation in the carcinogenesis of peritoneal MM remains to be determined.

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    회원님의 원문열람 권한에 따라 열람이 불가능 할 수 있으며 권한이 없는 경우 해당 사이트의 정책에 따라 회원가입 및 유료구매가 필요할 수 있습니다.이동하는 사이트에서의 모든 정보이용은 NDSL과 무관합니다.

    NDSL에서는 해당 원문을 복사서비스하고 있습니다. 아래의 원문복사신청 또는 장바구니담기를 통하여 원문복사서비스 이용이 가능합니다.

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  8. [해외논문]   Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative for MED12 exon 2 mutations   SCI SCIE

    Dzhemlikhanova, Lyailya Kh (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) , Efimova, Olga A (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) , Osinovskaya, Natalia S (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) , Parfenyev, Sergey E (St. Petersburg State University, , St. Petersburg, Russia ) , Niauri, Dariko A (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) , Sultanov, Iskender Yu (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) , Malysheva, Olga V (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) , Pendina, Anna A (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) , Shved, Natalia Yu (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) , Ivashchenko, Tatyana E (D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, , St. Petersburg, Russia ) , Yarmolinskaya, Maria I (D.O. Ott Research Institute of) , Kakhiani, Maka I , Gorovaya, Ekaterina A , Tkachenko, Antonina N , Baranov, Vladislav S
    Journal of clinical pathology v.70 no.3 ,pp. 233 - 236 , 2017 , 0021-9746 ,

    초록

    Aims To study the possible association of catechol-O-methyltransferase ( COMT) Val158Met polymorphism with multiple and solitary uterine leiomyomas (ULs) and to check whether the COMT Val/Val genotype is associated with MED12 exon 2 mutations in fibroids. Methods The COMT Val158Met allele and genotype frequencies were compared between age-matched women with ULs (n=104) and controls (n=59). Patients with UL were subcategorised by diagnosis of solitary (n=59) or multiple (n=45) fibroids and by the presence of somatic MED12 exon 2 mutations in at least one fibroid (n=32) or in neither fibroid (n=26). The association of COMT Val/Val genotype with the presence of any ULs, solitary/multiple ULs and ULs positive/negative for MED12 exon 2 mutations was evaluated by χ 2 tests using a dominant genotype model (G/G vs G/A+A/A) and expressed as ORs and 95% CIs. Results The COMT Val/Val genotype frequency did not differ between the patients with UL and the controls (28.8% vs 18.6%, p=0.149, OR 1.77; CI 0.81 to 3.86). However, it was significantly higher in the patients who had multiple UL compared with the solitary UL (40% vs 20.3%, p=0.028, OR 2.61; CI 1.09 to 6.24) and to the controls (40% vs 18.6%, p=0.016, OR 2.91; CI 1.20 to 7.06). No association of the COMT Val/Val genotype with UL-specific MED12 exon 2 mutations was found (p=0.662, OR 0.77; CI 0.23 to 2.53). Conclusions Women with COMT Val/Val genotype are at high risk of developing multiple uterine fibroids either positive or negative for MED12 exon 2 mutations. These data are important to design new strategies for UL prophylaxis and treatment.

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  9. [해외논문]   Regression grading in neoadjuvant treated pancreatic cancer: an interobserver study   SCI SCIE

    N Kalimuthu, Sangeetha (Laboratory Medicine Program, Department of Pathology, University Health Network, University of Toronto, , Toronto, Ontario, Canada ) , Serra, Stefano (Laboratory Medicine Program, Department of Pathology, University Health Network, University of Toronto, , Toronto, Ontario, Canada ) , Dhani, Neesha (Laboratory Medicine Program, Department of Medical Oncology, University Health Network, University of Toronto, , Toronto, Ontario, Canada ) , Hafezi-Bakhtiari, Sara (Laboratory Medicine Program, Department of Pathology, University Health Network, University of Toronto, , Toronto, Ontario, Canada ) , Szentgyorgyi, Eva (Laboratory Medicine Program, Department of Pathology, University Health Network, University of Toronto, , Toronto, Ontario, Canada ) , Vajpeyi, Rajkumar (Laboratory Medicine Program, Department of Pathology, University Health Network, University of Toronto, , Toronto, Ontario, Canada ) , Chetty, Runjan (Laboratory Medicine Program, Department of Pathology, University Health Network, University of Toronto, , Toronto, Ontario, Canada)
    Journal of clinical pathology v.70 no.3 ,pp. 237 - 243 , 2017 , 0021-9746 ,

    초록

    Aim Several regression grading systems have been proposed for neoadjuvant chemoradiation-treated pancreatic ductal adenocarcinoma (PDAC). This study aimed to examine the utility, reproducibility and level of concordance of three most frequently used grading systems. Methods Four gastrointestinal pathologists used the College of American Pathologists (CAP), Evans, MD Anderson Cancer Centre (MDA) regression grading systems to grade 14 selected cases (7–20 slides from each case) of neoadjuvant chemoradiation-treated PDAC. A postscoring discussion with each pathologist was conducted. The results were entered into a standardised data collection form and statistical analyses were performed. Results There was little concordance across the three systems. The Kendall coefficient of concordance agreement scores were: CAP: 2-poor, 2-fair; Evans: 1-fair, 1-moderate, 2-good; MDA: 1-poor, 2-moderate, 1-good. Interpretation in all three grades in the CAP grading system was a source of discrepancy. Furthermore, using fibrosis as a criterion to assess regression was contentious. In the Evans system, quantifying tumour destruction using arbitrary percentage cut-offs (ie, 9% vs 10%; 50% vs 51%, etc) was imprecise and subjective. Although the MDA system generated greatest concordance, this was due to ‘oversimplification’ surrounding wide, arbitrarily assigned thresholds of </> 5% of tumour. Conclusions All systems lacked precision and clarity for accurate regression grading. Presently the clinical utility and impact of histological regression grading in patient management is questionable. There is a need to re-evaluate regression grading in the pancreas and establish a reproducible, clinically relevant grading system.

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  10. [해외논문]   Acute leukaemia and myelodysplastic syndromes with chromosomal rearrangement involving 11q23 locus, but not MLL gene   SCI SCIE

    Zuo, Wenli (Department of Hematopathology, The University of Texas MD Anderson Cancer Center, , Houston, Texas, USA ) , Wang, Sa A (Department of Hematopathology, The University of Texas MD Anderson Cancer Center, , Houston, Texas, USA ) , DiNardo, Courtney (Department of Leukemia, The University of Texas MD Anderson Cancer Center, , Houston, Texas, USA ) , Yabe, Mariko (Department of Hematopathology, The University of Texas MD Anderson Cancer Center, , Houston, Texas, USA ) , Li, Shaoying (Department of Hematopathology, The University of Texas MD Anderson Cancer Center, , Houston, Texas, USA ) , Medeiros, L Jeffrey (Department of Hematopathology, The University of Texas MD Anderson Cancer Center, , Houston, Texas, USA ) , Tang, Guilin (Department of Hematopathology, The University of Texas MD Anderson Cancer Center, , Houston, Texas, USA)
    Journal of clinical pathology v.70 no.3 ,pp. 244 - 249 , 2017 , 0021-9746 ,

    초록

    Aims Chromosome 11q23 translocations, resulting in MLL (KMT2A ) rearrangement, have been well characterised in acute myeloid leukaemia (AML) and acute lymphoblastic leukaemia (ALL). However, little is known of haematopoietic neoplasms associated with 11q23 translocation but without MLL rearrangement (11q23+/ MLL −). The aim of this study is to characterise such cases with 11q23+/ MLL −. Methods and results We retrospectively searched our database for cases with haematopoietic malignancies with 11q23+/ MLL −. We identified nine patients, two with AML, two with B-lymphoblastic leukaemia (B-ALL); two with T-lymphoblastic leukaemia (T-ALL), two with myelodysplastic syndrome (MDS) and one with chronic myelomonocytic leukaemia (CMML). The translocations included t(X;11)(p11.2;q23), t(2;11)(p21;q23), t(6;11)(q27;q23), t(8;9;11)(q13;q13;q23), t(11;11)(p15;q23), t(11;14)(q23;q24) and t(11;15)(q23;q14). Five of six patients with acute leukaemia had received chemotherapy and detection of 11q23 translocation occurred at time of disease relapse. Both patients with MDS and the patient with CMML had 11q23 translocation detected at time of initial diagnosis, all three patients progressed to AML after >1 year on hypomethylating agent therapy. All patients received risk-adapted therapies, including stem cell transplant in five patients. At the last follow-up, eight patients died with a median overall survival of 14 months. Conclusions 11q23+/ MLL − occurs rarely, involving different partner chromosomes and showing clinical and pathological features and disease subtypes different from those cases with MLL rearrangement. 11q23+/ MLL − appears to be associated with clonal evolution/disease progression in acute leukaemia, a high risk for AML progression in MDS/CMML and a high incidence of disease relapse.

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