PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven Cases.

PATZ1-rearranged sarcomas are well-recognized tumors as part of the family of round cell sarcoma with EWSR1-non-ETS fusions. Whether PATZ1-rearranged central nervous system (CNS) tumors are a distinct tumor type is debatable. We thoroughly characterized a pediatric series of PATZ1-rearranged CNS tumors by chromosome microarray analysis (CMA), DNA methylation analysis, gene expression profiling and, when frozen tissue is available, optical genome mapping (OGM). The series consisted of 7 cases (M:F=1.3:1, 1-17 years, median 12). On MRI, the tumors were supratentorial in close relation to the lateral ventricles (intraventricular or iuxtaventricular), preferentially located in the occipital lobe. Two major histologic groups were identified: one (4 cases) with an overall glial appearance, indicated as "neuroepithelial" (NET) by analogy with the corresponding methylation class (MC); the other (3 cases) with a predominant spindle cell sarcoma morphology, indicated as "sarcomatous" (SM). A single distinct methylation cluster encompassing both groups was identified by multidimensional scaling analysis. Despite the epigenetic homogeneity, unsupervised clustering analysis of gene expression profiles revealed 2 distinct transcriptional subgroups correlating with the histologic phenotypes. Interestingly, genes implicated in epithelial-mesenchymal transition and extracellular matrix composition were enriched in the subgroup associated to the SM phenotype. The combined use of CMA and OGM enabled the identification of chromosome 22 chromothripsis in all cases suitable for the analyses, explaining the physical association of PATZ1 to EWSR1 or MN1. Six patients are currently disease-free (median follow-up 30 months, range 12-92). One patient of the SM group developed spinal metastases at 26 months from diagnosis and is currently receiving multimodal therapy (42 months). Our data suggest that PATZ1-CNS tumors are defined by chromosome 22 chromothripsis as causative of PATZ1 fusion, show peculiar MRI features (eg, relation to lateral ventricles, supratentorial frequently posterior site), and, although epigenetically homogenous, encompass 2 distinct histologic and transcriptional subgroups.

INDICATIONS AND RESULTS OF A NEW L-SHAPED MACULAR BUCKLE TO SUPPORT A POSTERIOR STAPHYLOMA IN HIGH MYOPIA.

BACKGROUND: The efficacy of a macular buckle in treating myopic traction maculopathy was studied. METHODS: Fifty eyes with myopic traction maculopathy, in the form of macular detachment with macular hole (MHMD), or without macular hole (MD) and macular foveoschisis (MF), were treated with vitrectomy combined with macular buckle or with a macular buckle without vitrectomy. RESULTS: Combined group: The combined group comprised 10 eyes with MHMD, 6 eyes with MD, and 4 eyes with MF. The retina was attached in 100% of MD and MHMD and the MF was improved in 100% of cases. The hole was closed in 60% of MHMD. The mean initial and final Snellen best-corrected visual acuity was 20/500 and 20/100 for MHMD, 20/200 and 20/60 for MD, and 20/200 and 20/50 for MF. The mean surgical time was 80 ± 35 minutes. Fundus angiography or indocyanine green revealed no alteration of the chorioretinal blood flow. Buckle shortening was required in 6/20 (30% of cases) patients for lateral extrusion of the sponge through the conjunctiva with the first sponge model. This complication was overcome by changing the arm of the buckle. Buckle group: The buckle group comprised 5 eyes with MHMD, 11 with MD, and 14 with MF. The retina was attached in 100% of MHMD, MD, and MF. The macular hole was closed in 60%. The mean initial and final Snellen best-corrected visual acuity was 20/800 and 20/60 for MHMD, 20/125 and 20/50 for MD, and 20/200 and 20/63 for MF. The mean postoperative decrement in axial length was 1.21 mm. The mean surgical time was 35 ± 15 minutes. Fundus angiography or indocyanine green revealed no alteration of the chorioretinal blood flow. Complications included conjunctiva erosion (15%), diplopia (7.7%), and pain (3.8%). Magnetic resonance imaging showed flattening of the posterior staphyloma. CONCLUSION: Considering the possible complications and technical difficulties of vitrectomy, we suggest that the macular buckle alone should be the first treatment of myopic traction maculopathy. Vitrectomy should be reserved only for cases of tangential tractions.

Idiopathic intracranial hypertension: a possible complication in the natural history of advanced prostate cancer.

Idiopathic intracranial hypertension is a variety of intracranial hypertension that is extremely rare in men. Obesity and hypogonadism are the most important predictive factors. Etiological hypotheses include increased central venous pressure, and various hormonal and metabolic changes commonly found in obese patients. We described the case of an obese man with prostate cancer who showed a consistent bodyweight increase during treatment with taxanes and prednisone. He was hospitalized because of a severe loss of vision as a consequence of idiopathic intracranial hypertension. A complete symptom remission was obtained after 3 weeks of anti-edema therapies (steroids, acetazolamide). Castration-resistant prostate cancer is a risk factor for idiopathic intracranial hypertension. Long-term androgen deprivation therapy, bodyweight increase, and fluid retention during chronic steroid administration and taxane chemotherapy might favor the disease onset. This severe complication has a good outcome, and should be suspected in the presence of symptoms and signs of intracranial hypertension.

Perineural tumor spread.

Perineural spread (PNS) refers to the extent of tumor cells or other nonneoplastic lesions along the tissues of the nerve sheath, its overall incidence ranges from 2.5% to 5%. PNS is more frequently associated with carcinoma arising from minor or major salivary glands (more often adenoid cystic carcinoma), mucosal or cutaneous squamous cell carcinoma, basal cell carcinoma, melanoma, lymphoma, and sarcoma. Although PNS was previously associated with worsening prognosis, increasing evidence shows that cure is possible. Therefore, radiologists must be aware of the relevant cranial nerve anatomy and thoroughly scrutinize not only the nerves close to the primary tumor site but also the whole neural pathways that can be accessed by PNS. Equally critical is knowledge of the radiologic appearance of perineural tumor extension and the best imaging strategies to detect PNS.

High-Dose and High-Frequency Lanreotide Autogel in Acromegaly: A Randomized, Multicenter Study.

Context: Increase in drug frequency or dose is recommended for acromegaly patients with partial response to long-acting somatostatin receptor ligands (SRLs). However, the efficacy and safety data with lanreotide (LAN) Autogel (LAN-ATG) at high dose (HD) or high frequency (HF) are still scanty. Objective: To evaluate the biochemical efficacy and safety of HF and HD LAN-ATG in patients with active acromegaly. Design: Twenty-four-week prospective, multicenter, randomized, open-label trial. Patients and Interventions: Thirty patients with active acromegaly, partial responders to SRLs, were randomized to HF (120 mg/21 days; 15 patients) or HD (180 mg/28 days; 15 patients) LAN-ATG. Outcomes: Normalization of serum insulin-like growth factor-I (IGF-I) and reduction in random growth hormone (GH) values < 1.0 µg/L, reduction in serum IGF-I and GH from baseline, differences in biochemical response between HF and HD LAN-ATG, adverse events. Results: IGF-I decreased significantly (P = 0.007) during the 24-week treatment, with greater decrease in HD (P = 0.03) vs HF group (P = 0.08). Normalization in IGF-I values occurred in 27.6% of patients (P = 0.016 vs baseline), without a significant difference between HF and HD groups (P = 0.59). The decrease in serum IGF-I significantly correlated with serum LAN values (P = 0.04), and normalization of IGF-I was predicted by baseline IGF-I values (P = 0.02). Serum GH values did not change significantly (P = 0.22). Overall, 19 patients (63.3%) experienced adverse events, all being mild to moderate and transient, without differences between the two therapeutic arms. Conclusion: HF and HD LAN-ATG regimens are effective in normalizing IGF-I values in about one-third of patients with active acromegaly inadequately controlled by long-term conventional SRLs therapy.

Gardner syndrome complicated with hydronephrosis. A case report.

Gardner syndrome is an autosomal dominant disease characterized by the presence of colonic polyposis, osteomas and soft tissue tumors. We present a case of a man who was admitted for a relapse of adenocarcinoma of the rectum. CT-staging showed multiple locations of desmoid tumors and osteomas, with final diagnosis of Gardner syndrome. The follow-up CT, after surgery and chemotherapy, showed a relapse of the lesions with hydronephrosis due to ureteral compression.