دورية أكاديمية
Histone 3.3 mutations in giant cell tumor and giant cellâ rich sarcomas of bone
| العنوان: | Histone 3.3 mutations in giant cell tumor and giant cellâ rich sarcomas of bone |
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| المؤلفون: | Righi, Alberto, Mancini, Irene, Gambarotti, Marco, Picci, Piero, Gamberi, Gabriella, Marraccini, Cristina, Dei Tos, Angelo Paolo, Simi, Lisa, Pinzani, Pamela, Franchi, Alessandro |
| المساهمون: | Righi, Alberto, Mancini, Irene, Gambarotti, Marco, Picci, Piero, Gamberi, Gabriella, Marraccini, Cristina, Dei Tos, Angelo Paolo, Simi, Lisa, Pinzani, Pamela, Franchi, Alessandro |
| سنة النشر: | 2017 |
| المجموعة: | ARPI - Archivio della Ricerca dell'Università di Pisa |
| مصطلحات موضوعية: | COLD-PCR, Giant cell tumor of bone, Giant cellâ rich sarcoma, Histone 3.3 gene mutation, Malignant giant cell tumor, Adolescent, Adult, Aged, Biomarkers, Tumor, Bone Neoplasm, Child, Preschool, DNA Mutational Analysi, Diagnosis, Differential, Female, Histone, Human, Lung Neoplasm, Male, Middle Aged, Osteosarcoma, Predictive Value of Test, Young Adult, Mutation |
| الوقت: | 2734 |
| الوصف: | Mutually exclusive histone 3.3 gene mutations have been recognized in chondroblastoma and giant cell tumor of bone (GCTB), which may be useful for differential diagnostic purposes in morphologically ambiguous cases. Although more than 90% of GCTBs present histone 3.3 variants exclusively in the H3F3A gene, chondroblastoma is mutated mainly in H3F3B. In this study, we examined a series of giant cellâ rich primary bone tumors, aiming to evaluate the possible diagnostic role of histone 3.3 mutations in the differential diagnosis between GCTB and giant cellâ rich sarcomas. Sixteen cases of nonmetastatic GCTB, 9 GCTBs with lung metastases, and 35 giant cellâ rich sarcomas were selected from our institutional archives. Eight chondroblastomas were used as controls. Direct sequencing for the presence of H3F3A and H3F3B variants in coding region between codons 1 and 42, including the hotspot codons (28, 35, and 37), was performed on DNA extracted from formalin-fixed, paraffin-embedded tissue using conventional polymerase chain reaction and fast coamplification at lower denaturation temperatureâ polymerase chain reaction. Overall, 24 GCTBs (96%) presented a mutation in the H3F3A gene (15 of 16 nonmetastatic and 9 of 9 metastatic). Five sarcomas harbored an H3F3A mutation (3 p.G35W, 1 p.G35L, and 1 p.G35E), and these were all secondary malignant GCTBs. In conclusion, we confirm that H3F3A mutational testing may be a useful adjunct to differentiate GCTB from giant cellâ rich sarcomas. Although the presence of H3F3A mutations does not exclude with certainty a diagnosis of sarcoma, the possibility of a malignant evolution of GCTB should also be considered. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/28899740; info:eu-repo/semantics/altIdentifier/wos/WOS:000416883100018; volume:68; firstpage:128; lastpage:135; numberofpages:8; journal:HUMAN PATHOLOGY; https://hdl.handle.net/11568/884918Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85031121870; http://www.elsevier.com/inca/publications/store/6/2/3/1/3/9/index.httTest |
| DOI: | 10.1016/j.humpath.2017.08.033 |
| الإتاحة: | https://doi.org/10.1016/j.humpath.2017.08.033Test https://hdl.handle.net/11568/884918Test http://www.elsevier.com/inca/publications/store/6/2/3/1/3/9/index.httTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.6C562A12 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.humpath.2017.08.033 |
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