Introduction. Intracranial chondromas are extremely rare intracranial tumours that usually arise from the skull base synchondrosis. Exceptionally, they may grow from cartilage rests within the dura mater of the convexity or the falx. They may be part of Ollier's multiple enchondromatosis or Maffuci's syndrome. We describe the case of a young male diagnosed of Noonan's syndrome that underwent resection of a large intracranial chondroma arising from the dural convexity. To our best knowledge this is the first report of such association. Case report. An 18-year-old male presented with a single generalized seizure. The patient was previously diagnosed of Noonan's syndrome on the basis of his special phenotype (Turner-like), low stature, cardiac malformation, retarded sexual and bone development and normal karyotype. He harboured mild psychomotor retardation. Physical and neurological examinations were unremarkable. Brain Magnetic Resonance image showed a large well-circumscribed intracranial mass in the dural convexity of the left frontal-parietal lobes, with heterogeneous contrast enhancement and no peritumoural oedema. The patient was initiated on valproic acid and underwent craniotomy and complete excision of the tumour. The tumour was firm, white-greyish, avascular and could be finely dissected away from the cortex. Postoperative seizures required additional anticonvulsant therapy. He was discharged uneventfully. The pathological study revealed a mature chondroma. Subsequent brain MRI studies have shown no evidence of recurrence after 33 months of follow up. Discussión. Chondromas comprise less than 0.3% of intracranial tumours. Only twenty-five cases of intracranial dural convexity chondromas are reported in the literature. Several hystopathogenetic theories have been proposed: metaplasia of meningeal fibroblasts and perivascular meningeal tissue, traumatic or inflamma-tory cartilaginous activation of fibroblasts and growth of aberrant embryonal cartilaginous rests in the dura mater. Chondromas present clinical features similar to meningiomas. CT scan imaging shows a mass of variable density due to different degrees of calcification with minimum to moderate contrast enhancement. MRI studies show a well-circumscribed lesion without surrounding tissue oedema, that exhibit heterogeneous signal with intermediate to low intensity on T1-weighted images and mixed intensity on T2-weighted images with minimum enhancement. Angiogram is clue to differentiate from meningiomas since chondromas are completely avascular. Complete tumour resection including its dural attachment is the treatment of choice. Long-term prognosis is favourable. Radiation therapy is currently not recommended for residual tumours or inoperable patients due to risk of malignization. Noonan's syndrome (also known as pseudo-Turner syndrome) is a complex familial genetic disorder with a phenotype that resembles that of Turner's syndrome but exhibits no chromosomal defect. No predisposition of Noonan's syndrome for tumoural development is reported in the l...

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Introduction. Intracranial chondromas are extremely rare intracranial tumours that usually arise from the skull base synchondrosis. Exceptionally, they may grow from cartilage rests within the dura mater of the convexity or the falx. They may be part of Ollier's multiple enchondromatosis or Maffuci's syndrome. We describe the case of a young male diagnosed of Noonan's syndrome that underwent resection of a large intracranial chondroma arising from the dural convexity. To our best knowledge this is the first report of such association. Case report. An 18-year-old male presented with a single generalized seizure. The patient was previously diagnosed of Noonan's syndrome on the basis of his special phenotype (Turner-like), low stature, cardiac malformation, retarded sexual and bone development and normal karyotype. He harboured mild psychomotor retardation. Physical and neurological examinations were unremarkable. Brain Magnetic Resonance image showed a large well-circumscribed intracranial mass in the dural convexity of the left frontal-parietal lobes, with heterogeneous contrast enhancement and no peritumoural oedema. The patient was initiated on valproic acid and underwent craniotomy and complete excision of the tumour. The tumour was firm, white-greyish, avascular and could be finely dissected away from the cortex. Postoperative seizures required additional anticonvulsant therapy. He was discharged uneventfully. The pathological study revealed a mature chondroma. Subsequent brain MRI studies have shown no evidence of recurrence after 33 months of follow up. Discussión. Chondromas comprise less than 0.3% of intracranial tumours. Only twenty-five cases of intracranial dural convexity chondromas are reported in the literature. Several hystopathogenetic theories have been proposed: metaplasia of meningeal fibroblasts and perivascular meningeal tissue, traumatic or inflamma-tory cartilaginous activation of fibroblasts and growth of aberrant embryonal cartilaginous rests in the dura mater. Chondromas present clinical features similar to meningiomas. CT scan imaging shows a mass of variable density due to different degrees of calcification with minimum to moderate contrast enhancement. MRI studies show a well-circumscribed lesion without surrounding tissue oedema, that exhibit heterogeneous signal with intermediate to low intensity on T1-weighted images and mixed intensity on T2-weighted images with minimum enhancement. Angiogram is clue to differentiate from meningiomas since chondromas are completely avascular. Complete tumour resection including its dural attachment is the treatment of choice. Long-term prognosis is favourable. Radiation therapy is currently not recommended for residual tumours or inoperable patients due to risk of malignization. Noonan's syndrome (also known as pseudo-Turner syndrome) is a complex familial genetic disorder with a phenotype that resembles that of Turner's syndrome but exhibits no chromosomal defect. No predisposition of Noonan's syndrome for tumoural development is reported in the l...

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e15534 Background: KRAS mutations are present over 90% of patients with pancreatic cancer (PC). Liquid biopsies provide the opportunity to genotype alterations in a less invasive way and offer a possibility to monitor the molecular characteristics of a cancer through the course of treatment. We aim to establish an association between the mutational levels of KRAS detected in plasma with patient stage and evolution. Methods: Plasma samples were collected from patients with newly diagnosed PC, before any treatment and during one year. Diagnosis of any previous cancer was an exclusion criterion. Samples were frozen (-80ºC) until analysis of KRAS mutations in cell free DNA (cfDNA) by real time PCR. Specifically, Idylla TM technology was used due to the rapid capacity to report up to 21 KRAS mutations in exon 2, 3, and 4 (LOD = < 5%), without necessity of cfDNA isolation. Mutation was considered present (categorical measurement), taking into account cycle quantification values (Cq) established by the commercial test. Cut-off values for Cq were studied by the ROC curve (receiver operating characteristic) with the Youden's J statistic. Paired tissue samples were analyzed when available. Results: A total of 23 patients were enrolled, median age 65 years old, 57% male, 100% adenocarcinoma, 18 (70%) metastatic. Sixteen patients could also be tested in tissue, being 15 (93.8%) positive for KRAS mutation. Plasma basal mutations were detected in 10 patients (43.5%), all in stage IV (p = 0.046), and interestingly, all with liver involvement (p = 0.003). Moreover, these patients also had metastasis in another organ apart from the liver. The most frequent mutation was G12V (5), followed by G12D (4) and G12R (1). Patients with basal KRAS mutations detected in plasma had a survival of 6.1 months (CI 95%, 3.7-8.5), and non-mutated 11.2 months (95% CI, 7.8-14.7) (p = 0.041). The presence of these cell-free KRAS mutations was more informative for survival than stage IV disease vs III (p = 0.054). Paying attention to KRAS wild type detection in plasma samples used as an internal control of the PCR, we could establish a Cq value cut-off of < 21 Cq for mutant samples, with a sensitivity of 100% (95% CI, 75%-100%) and specificity of 50% (95% CI, 19%-81%), area under ROC curve 0.823 (95% CI, 0.649-0.997). Conclusions: Measurement of cell-free KRAS in plasma samples at diagnosis could be used to quickly predict metastasis and survival in patients with pancreatic adenocarcinoma.