دورية أكاديمية
أعرض في EDS

The detection of isochromosome i(12p) in malignant germ cell tumours and tumours with somatic malignant transformation by the use of quantitative real-time polymerase chain reaction.

التفاصيل البيبلوغرافية
العنوان: The detection of isochromosome i(12p) in malignant germ cell tumours and tumours with somatic malignant transformation by the use of quantitative real-time polymerase chain reaction.
المؤلفون: Fichtner A; Institute of Pathology, University Medical Centre, Göttingen, Germany., Richter A; Institute of Pathology, University Medical Centre, Göttingen, Germany., Filmar S; Institute of Pathology, University Medical Centre, Göttingen, Germany., Gaisa NT; Institute of Pathology, RWTH Aachen University, Aachen, Germany., Schweyer S; Gemeinschaftspraxis Pathologie, Starnberg, Germany., Reis H; Institute of Pathology, West German Cancer Centre, University of Duisburg-Essen, University Hospital Essen, Essen, Germany., Nettersheim D; Department of Urology, Urological Research Laboratory, Translational UroOncology, University Hospital Düsseldorf, Düsseldorf, Germany., Oing C; Department of Oncology, Haematology and Bone Marrow Transplantation with Division of Pneumology, Mildred Scheel Cancer Career Centre HaTriCS4, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany., Gayer FA; Department of Urology, University Medical Centre, Göttingen, Germany., Leha A; Institute of Medical Statistics, University Medical Centre, Göttingen, Germany., Küffer S; Institute of Pathology, University Medical Centre, Göttingen, Germany., Ströbel P; Institute of Pathology, University Medical Centre, Göttingen, Germany., Kaulfuß S; Institute of Human Genetics, University Medical Centre, Göttingen, Germany., Bremmer F; Institute of Pathology, University Medical Centre, Göttingen, Germany.
المصدر: Histopathology [Histopathology] 2021 Mar; Vol. 78 (4), pp. 593-606. Date of Electronic Publication: 2020 Nov 21.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7704136 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2559 (Electronic) Linking ISSN: 03090167 NLM ISO Abbreviation: Histopathology Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Oxford, Blackwell Scientific Publications.
مواضيع طبية MeSH: Isochromosomes/*genetics , Neoplasms, Germ Cell and Embryonal/*genetics, Cell Transformation, Neoplastic ; Humans ; In Situ Hybridization, Fluorescence ; Neoplasms, Germ Cell and Embryonal/pathology ; Real-Time Polymerase Chain Reaction
مستخلص: Aims: Malignant germ cell tumours (GCTs) of the testis are rare neoplasms, but the most common solid malignancies in young men. World Health Organization guidelines divide GCTs into five types, for which numerous immunohistochemical markers allow exact histological subtyping in the majority of cases. In contrast, a germ cell origin is often hard to prove in metastatic GCTs that have developed so-called somatic malignant transformation. A high percentage, up to 89%, of GCTs are characterised by the appearance of isochromosome 12p [i(12p)]. Fluorescence in-situ hybridisation has been the most common diagnostic method for the detection of i(12p) so far, but has the disadvantages of being time-consuming, demanding, and not being a stand-alone method. The aim of the present study was to establish a quantitative real-time polymerase chain reaction assay as an independent method for detecting i(12p) and regional amplifications of the short arm of chromosome 12 by using DNA extracted from formalin-fixed paraffin-embedded tissue.
Methods and Results: A cut-off value to distinguish between the presence and absence of i(12p) was established in a control set consisting of 36 tumour-free samples. In a training set of 149 GCT samples, i(12p) was detectable in 133 tumours (89%), but not in 16 tumours (11%). In a test set containing 27 primary and metastatic GCTs, all 16 tumours with metastatic spread and/or somatic malignant transformation were successfully identified by the detection of i(12p).
Conclusion: In summary, the qPCR assay presented here can help to identify, further characterise and assign a large proportion of histologically inconclusive malignancies to a GCT origin.
(© 2020 The Authors. Histopathology published by John Wiley & Sons Ltd.)
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معلومات مُعتمدة: 2016.041.1 Wilhelm Sander-Stiftung; 2016.041.2 Wilhelm Sander-Stiftung
فهرسة مساهمة: Keywords: germ cell tumours; isochromosome 12p; quantitative PCR; somatic malignant transformation; somatic-type malignancy
تواريخ الأحداث: Date Created: 20200924 Date Completed: 20211129 Latest Revision: 20211129
رمز التحديث: 20240628
DOI: 10.1111/his.14258
PMID: 32970854
قاعدة البيانات: MEDLINE
الوصف
تدمد:1365-2559
DOI:10.1111/his.14258