Early stage glioblastoma: retrospective multicentric analysis of clinical and radiological features.

OBJECTIVES: The aim of this study was to report our experience with early stage glioblastoma (e-GB) and to investigate the possible clinical and imaging features that may be helpful to the radiologist to correctly diagnose this entity. METHODS: We performed a retrospective research of patients diagnosed with glioblastoma at two hospitals during a 10-year period. We reviewed all pre-operative MR and included only patients with early stage GB lesions, characterized by hyperintense on T2-weighted signal, with or without contrast-enhancement at post-contrast T1-weighted images, without "classic" imaging appearance of GB (necrosis, haemorrhage, oedema). All preoperative MR were evaluated by an experienced neuroradiologist and information on patients' demographics, clinical presentation, follow-up, and histopathology results study were collected. When available, preoperative CT examination was also evaluated. RESULTS: We found 14 e-GBs in 13 patients (9 males, 4 females, median age 63 years) among 660 patients diagnosed with GB between 2010 and 2020. In 10 lesions, serial imaging revealed the transformation of e-GB in classic glioblastoma in a median time of 3 months. Clinical presentation included stroke-like symptoms, vertigo, seizures and confusion. Preoperative plain CT was performed in 8/13 cases and in 7 e-GBs presented as a hyperdense lesion. Ten out of 14 lesions transformed in classic GB before surgical intervention or biopsy. All lesions revealed typical immunohistochemical pattern of primary glioblastoma. CONCLUSIONS: E-GB is a rare entity that can often lead to misdiagnosis. However, the radiologist should be aware of its imaging appearance to suggest the diagnosis and to request close imaging follow-up, hopefully improving the prognosis of this very aggressive disease.

Non-traumatic acute myelopathies: Clinical and imaging features in a real world emergency setting.

OBJECTIVE: The aetiologic diagnosis of non-traumatic acute myelopathies (AMs), and their differentiation from other mimicking conditions (i.e. 'mimics'), are clinically challenging, especially in the emergency setting. Here, we sought to identify: (i) red flags suggesting diagnoses alternative to AMs and (ii) clinical signs and magnetic resonance imaging (MRI) features differentiating non-compressive from compressive AMs. MATERIALS AND METHODS: We retrospectively retrieved MRI scans of spinal cord dictated at emergency room from January 2016 to December 2020 in the suspicion of AMs. Patients with traumatic myelopathies and those with subacute/chronic myelopathies (i.e. MRI scans acquired >48 h from symptom onset) were excluded from analysis. RESULTS: Our search retrieved 105 patients; after excluding 16 cases of traumatic myelopathies and 14 cases of subacute/chronic myelopathies, we identified 30 cases with non-compressive AMs, 30 cases with compressive AMs and 15 mimics. The presence of pyramidal signs (p = 0.012) and/or pain (p = 0.048) correctly identified 88% of cases with AMs. We failed to identify clinical indicators for distinguishing non-compressive and compressive AMs, although cases with inflammatory AMs were younger than cases with all the remaining conditions (p < 0.05). Different MRI patterns could be described according to the final diagnosis: among non-compressive AMs, inflammatory lesions were more often posterior or central; vascular malformation had a fairly widespread distribution; spine ischaemia was more often central. Anterior or lateral compression were more often associated with neoplasms and disc herniation , whereas hemorrhages and infections produced spine compression on all sides. CONCLUSION: We propose a simple clinical indicator (i.e. pyramidal signs and/or pain) to distinguish AMs from their mimics in an emergency setting. Urgent spinal cord MRI remains essential to discriminate compressive and non-compressive aetiologies.

Switch Strategy from Direct Aspiration First Pass Technique to Solumbra Improves Technical Outcome in Endovascularly Treated Stroke.

BACKGROUND: The major endovascular mechanic thrombectomy (MT) techniques are: Stent-Retriever (SR), aspiration first pass technique (ADAPT) and Solumbra (Aspiration + SR), which are interchangeable (defined as switching strategy (SS)). The purpose of this study is to report the added value of switching from ADAPT to Solumbra in unsuccessful revascularization stroke patients. METHODS: This is a retrospective, single center, pragmatic, cohort study. From December 2017 to November 2019, 935 consecutive patients were admitted to the Stroke Unit and 176/935 (18.8%) were eligible for MT. In 135/176 (76.7%) patients, ADAPT was used as the first-line strategy. SS was defined as the difference between first technique adopted and the final technique. Revascularization was evaluated with modified Thrombolysis In Cerebral Infarction (TICI) with success defined as mTICI ≥ 2b. Procedural time (PT) and time to reperfusion (TTR) were recorded. RESULTS: Stroke involved: Anterior circulation in 121/135 (89.6%) patients and posterior circulation in 14/135 (10.4%) patients. ADAPT was the most common first-line technique vs. both SR and Solumbra (135/176 (76.7%) vs. 10/176 (5.7%) vs. 31/176 (17.6%), respectively). In 28/135 (20.7%) patients, the mTICI was ≤ 2a requiring switch to Solumbra. The vessel's diameter positively predicted SS result (odd ratio (OR) 1.12, confidence of interval (CI) 95% 1.03-1.22; p = 0.006). The mean number of passes before SS was 2.0 ± 1.2. ADAPT to Solumbra improved successful revascularization by 13.3% (107/135 (79.3%) vs. 125/135 (92.6%)). PT was superior for SS comparing with ADAPT (71.1 min (CI 95% 53.2-109.0) vs. 40.0 min (CI 95% 35.0-45.2); p = 0.0004), although, TTR was similar (324.1 min (CI 95% 311.4-387.0) vs. 311.4 min (CI 95% 285.5-338.7); p = 0.23). CONCLUSION: Successful revascularization was improved by 13.3% after switching form ADAPT to Solumbra (final mTICI ≥ 2b was 92.6%). Vessel's diameter positively predicted recourse to SS.

Promyelocytic sarcoma of the spine: a case report and review of the literature.

Myeloid sarcoma (MS, previously named granulocytic sarcoma or chloroma) is a rare extramedullary tumour of immature myeloid cells. It can be present before, concurrently with, or after the diagnosis of acute myeloid leukemia. MS is extremely uncommon in acute promyelocytic leukemia (APL). In the case described here, MS was the sole site of APL relapse and the cause of spinal cord compression. The patient presented with neurologic symptoms due to a paravertebral mass of MS after 7 years of complete remission. He was treated with excision of the mass followed by local radiotherapy. Systemic treatment was also given with combined arsenic trioxide and all-trans retinoic acid and the patient was able to achieve a second prolonged clinical and molecular remission.

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10-15% cases. Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene. Morphological and endocrinological evaluations excluded any anomaly of the hypothalamus-pituitary axis. Our finding supports the hypothesis that SOX2 is particularly prone to slipped-strand mispairing, which results in a high frequency of point deletions/insertions.