Peculiar pathological, radiological and clinical features of skull-base de-differentiated chordomas. Results from a referral centre case-series and literature review

被引:21
作者
Asioli, Sofia [1 ,2 ,3 ]
Zoli, Matteo [2 ,3 ]
Guaraldi, Federica [2 ,3 ]
Sollini, Giacomo [4 ]
Bacci, Antonella [5 ]
Gibertoni, Dino [6 ]
Ricci, Costantino [1 ]
Morandi, Luca [1 ]
Pasquini, Ernesto [4 ]
Righi, Alberto [7 ]
Mazzatenta, Diego [2 ,3 ]
机构
[1] Bellaria Hosp, Sect Anat Pathol M Malpighi, Bologna, Italy
[2] Univ Bologna, Dept Biomed & Neuromotor Sci DIBINEM, Bologna, Italy
[3] Ctr Diag & Treatment Hypothalam & Pituitary Dis, Neurol Sci Bologna, Dept Biomed & Neuromotor Sci DIBINEM, Pituitary Unit, Bologna, Italy
[4] Bellaria Hosp, ENT Div, Bologna, Italy
[5] IRCCS Inst Neurol Sci Bologna, Div Neuroradiol, Bologna, Italy
[6] Univ Bologna, Dept Biomed & Neuromotor Sci, Unit Hyg Publ Hlth & Biostat, Bologna, Italy
[7] IRCCS Ist Ortoped Rizzoli, Serv Anat Pathol, Via Barbiano 1-10, I-40137 Bologna, Italy
关键词
bone tumour; de-differentiated chordoma; endoscopic endonasal surgery; outcome; skull-base tumour; SARCOMATOUS TRANSFORMATION; RADIOTHERAPY; MANAGEMENT;
D O I
10.1111/his.14024
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Aims De-differentiated chordoma is an uncommon and incompletely characterised aggressive neoplasm. Only a few cases originating from the skull base have been reported. Methods and results All consecutive cases of skull-base de-differentiated chordomas treated surgically in a referral centre from January 1990 to June 2019 were retrospectively evaluated to assess peculiar pathological, radiological and clinical features. Patient data were retrieved from paper and electronic records. Six cases (two male, four female; mean age at surgery = 46 years, range = 35-64), treated surgically at our institution were identified. Transformation to de-differentiated chordomas occurred after radiation therapy in three cases (mean = 13.6 years after treatment, range = 5-25), two during tumour progression, while one was de-novo. Magnetic resonance imaging and surgical examination revealed the presence of two different tumour components, corresponding to the conventional and de-differentiated portion on histological examination. The de-novo case presented a PIK3CA mutation. DNA methylation analysis revealed consistent epigenetic changes in TERT, MAGEA11 and UXT. Prognosis was poor, as five of six patients died after surgery and radiation therapy, with a mean overall survival of 29 months (range = 11-52). Conclusions Skull-base de-differentiated chordomas are extremely rare and aggressive neoplasms with characteristic magnetic resonance imaging, surgical and histological features. Therefore, an early and accurate histological diagnosis is of paramount relevance. Molecular analysis appears promising to define mechanisms involved in tumour de-differentiation.
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收藏
页码:731 / 739
页数:9
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