A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature
Introduction: Giant cell tumor of bone (GCTB) is a rare, typically benign neoplasm that primarily affects long bones in adults, with clival involvement being extremely rare, particularly in pediatric cases: a mini-review shows a total of 28 described cases, of which only 5 were truly pediatric (with...
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| Format: | Article |
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AVES Yayincilik
2025-01-01
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| Series: | Turkish Archives of Pediatrics |
| Online Access: | https://www.turkarchpediatr.org/en/a-rare-pediatric-giant-cell-tumor-of-the-clivus-bone-h3-3-p-gly35trp-mutated-case-report-and-mini-review-of-the-literature-131729 |
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| author | Gabriele Gaggero Teresa Battaglia Virginia Andreotti Andrea Rossi Marta Ingaliso Davide Taietti Claudia Milanaccio Gianluca Piatelli Valerio Gaetano Vellone |
| author_facet | Gabriele Gaggero Teresa Battaglia Virginia Andreotti Andrea Rossi Marta Ingaliso Davide Taietti Claudia Milanaccio Gianluca Piatelli Valerio Gaetano Vellone |
| author_sort | Gabriele Gaggero |
| collection | DOAJ |
| description | Introduction: Giant cell tumor of bone (GCTB) is a rare, typically benign neoplasm that primarily affects long bones in adults, with clival involvement being extremely rare, particularly in pediatric cases: a mini-review shows a total of 28 described cases, of which only 5 were truly pediatric (within 14 years of age). Surgery is the treatment of choice, and Denosumab is reported to be the most effective drug therapy. To date, the GCTB’s molecular hallmark is the somatic mutation p.Gly34Trp, at the H3F3A gene (H3.3 p.Gly34Trp mutation), but in this case, the mutation H3.3 p.Gly35Trp was identified.
Case Presentation: A 9-year-old female presented with progressive ocular pain, ptosis, and diplopia. MRI revealed a 42 × 32 × 30 mm mass in the clivus and sphenoid body. The patient underwent partial resection, and histology confirmed GCTB. Molecular testing revealed the presence of the H3.3 p.Gly35Trp mutation, and we demonstrate that this is the true mutation associated with GCTB, not the previously described (H3.3 p.Gly34Trp). Due to residual tumor tissue, the patient was treated with Denosumab, a RANKL inhibitor. During a 2-year follow-up, the tumor size stabilized, and no significant adverse effects were observed.
Conclusion: This case represents the first pediatric clival GCTB harboring the H3.3 p.Gly35Trp mutation. Molecular diagnostics played a crucial role in confirming the diagnosis and demonstrating that the true mutation harbored by GCTB is H3.3 p.Gly35Trp and not the formerly described (H3.3 p.Gly34Trp). Denosumab therapy effectively controlled the tumor without major side effects, although long-term treatment duration and safety require further study. |
| format | Article |
| id | doaj-art-52687d9c066a4aae82ded5fe4f3c3f05 |
| institution | Kabale University |
| issn | 2757-6256 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | AVES Yayincilik |
| record_format | Article |
| series | Turkish Archives of Pediatrics |
| spelling | doaj-art-52687d9c066a4aae82ded5fe4f3c3f052025-01-13T09:14:18ZengAVES YayincilikTurkish Archives of Pediatrics2757-62562025-01-01601849110.5152/TurkArchPediatr.2025.24189A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the LiteratureGabriele Gaggero0Teresa Battaglia1Virginia Andreotti2Andrea Rossi3Marta Ingaliso4Davide Taietti5Claudia Milanaccio6Gianluca Piatelli7Valerio Gaetano Vellone8Pathology Unit, IRCCS Istituto Giannina Gaslini, Genova, ItalyOncology Unit, IRCCS Istituto Giannina Gaslini, Genova, ItalyGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, Genova, ItalyNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, ItalyDivision of Anatomic Pathology, Department of Integrated Surgical and Diagnostic Sciences (DISC), Genova, Università di Genova, Scuola di Scienze Mediche e Farmaceutiche, ItalyPathology Unit, ASST del Garda, Desenzano del Garda, Brescia, ItalyNeuro-oncology Unit, IRCCS Istituto Giannina Gaslini, Genova, ItalyNeurosurgery Unit, IRCCS Istituto Giannina Gaslini, Genova, ItalyPathology Unit, IRCCS Istituto Giannina Gaslini, Genova, ItalyIntroduction: Giant cell tumor of bone (GCTB) is a rare, typically benign neoplasm that primarily affects long bones in adults, with clival involvement being extremely rare, particularly in pediatric cases: a mini-review shows a total of 28 described cases, of which only 5 were truly pediatric (within 14 years of age). Surgery is the treatment of choice, and Denosumab is reported to be the most effective drug therapy. To date, the GCTB’s molecular hallmark is the somatic mutation p.Gly34Trp, at the H3F3A gene (H3.3 p.Gly34Trp mutation), but in this case, the mutation H3.3 p.Gly35Trp was identified. Case Presentation: A 9-year-old female presented with progressive ocular pain, ptosis, and diplopia. MRI revealed a 42 × 32 × 30 mm mass in the clivus and sphenoid body. The patient underwent partial resection, and histology confirmed GCTB. Molecular testing revealed the presence of the H3.3 p.Gly35Trp mutation, and we demonstrate that this is the true mutation associated with GCTB, not the previously described (H3.3 p.Gly34Trp). Due to residual tumor tissue, the patient was treated with Denosumab, a RANKL inhibitor. During a 2-year follow-up, the tumor size stabilized, and no significant adverse effects were observed. Conclusion: This case represents the first pediatric clival GCTB harboring the H3.3 p.Gly35Trp mutation. Molecular diagnostics played a crucial role in confirming the diagnosis and demonstrating that the true mutation harbored by GCTB is H3.3 p.Gly35Trp and not the formerly described (H3.3 p.Gly34Trp). Denosumab therapy effectively controlled the tumor without major side effects, although long-term treatment duration and safety require further study.https://www.turkarchpediatr.org/en/a-rare-pediatric-giant-cell-tumor-of-the-clivus-bone-h3-3-p-gly35trp-mutated-case-report-and-mini-review-of-the-literature-131729 |
| spellingShingle | Gabriele Gaggero Teresa Battaglia Virginia Andreotti Andrea Rossi Marta Ingaliso Davide Taietti Claudia Milanaccio Gianluca Piatelli Valerio Gaetano Vellone A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature Turkish Archives of Pediatrics |
| title | A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature |
| title_full | A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature |
| title_fullStr | A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature |
| title_full_unstemmed | A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature |
| title_short | A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature |
| title_sort | rare pediatric giant cell tumor of the clivus bone h3 3 p gly35trp mutated case report and mini review of the literature |
| url | https://www.turkarchpediatr.org/en/a-rare-pediatric-giant-cell-tumor-of-the-clivus-bone-h3-3-p-gly35trp-mutated-case-report-and-mini-review-of-the-literature-131729 |
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