Purely cystic meningiomas are extremely rare extra-axial neoplasms that can mimic aggressive malignancies, like glioblastoma multiforme (GBM), because radiologically and intraoperatively they lack a visible solid component and demonstrate postcontrast enhancement and significant vasogenic edema. The authors present a case of a purely cystic intra-axial meningioma mimicking GBM with an accompanying systematic review of the literature. An 84-year-old female presented with expressive dysphasia. MRI revealed a 3-cm inhomogeneously enhancing intra-axial left temporal lobe mass with apparent MRI presentation of central necrosis, suggesting a high-grade glioma. Intraoperatively, the lesion appeared vascular and infiltrative like a GBM; however, histopathological and immunohistochemical analyses (somatostatin receptor 2 antigen positive, progesterone receptor positive, glial fibrillary acidic protein negative) confirmed an angiomatous meningioma (WHO grade 1). Postoperatively, the patient’s symptoms resolved, and 10 years of annual follow-up MRI studies confirmed no recurrence. Only 3 other purely cystic meningioma cases (extra-axial) were identified in the literature. Cystic meningiomas are rarely GBM “imitators.” Surgeons should consider cystic meningioma when classic radiological hallmarks are absent. Despite an aggressive imaging profile, these tumors are biologically and clinically benign. Gross-total resection remains the gold-standard treatment, offering excellent long-term prognosis and the potential for a permanent cure. This case highlights the need for histological tissue diagnosis before final treatment plans are considered. https://thejns.org/doi/10.3171/CASE26438

Abstract Malignant peritoneal mesothelioma is an extremely rare and poorly recognized neoplasm in children. A 5-year-old boy presented with a 1-year history of progressive painless abdominal distension. A CT revealed a 19 × 19 × 11 cm3 cystic mass in the right hemiabdomen, without infiltrating the surrounding structures. The tumor was completely removed by surgery. The microscopic and immunohistochemical analyses confirmed peritoneal mesothelioma. Comprehensive genomic profiling revealed no major driving mutations including BAP1, no fusions, but with amplifications of AURKA, AURKC, HLA-1B, ZNF-217, OR5F1 and MEN1 genes. Imaging follow-up 3 months after surgery revealed metastatic disease. The patient died of pneumonia at another hospital shortly after the last follow-up examination at our institution. Pediatric peritoneal mesothelioma is an extremely rare malignancy with limited targeted options and a poor prognosis. Some of the identified molecular genomic biomarkers require further exploration and validation in this cancer.

Abstract Lipofibromatosis (LF) is a rare benign fibrofatty tumor of infancy and childhood with a predilection for distal extremities, poor margination, and a high local recurrence rate. We report a toddler who presented with an LF involving her right labiocrural fold. Imaging showed a soft tissue mass extending through the right labiocrural fold with possible infiltration into the underlying muscles. The mass was excised entirely, preserving adjacent structures. The histopathologic report revealed the mass to be LF. A 3-year follow-up revealed no disease recurrence. No other cases of LF in this localization have been presented in the literature. Despite its rarity, LF should be considered in diagnosing soft tissue neoplasms in children. Accurate diagnosis and proper surgical management with complete resection are essential to reduce the postoperative recurrence risk.

Uvod: Heterogena priroda akutne mijeloične leukemije (AML) iziskuje primjenu specifičnih i pouzdanih laboratorijskih testova pri postavljanju dijagnoze. Istraživanja ukazuju na određene nedostatke konvencionalnih morfoloških i imunofenotipskih metoda, ali i potrebu za imple-mentacijom kompleksnog dijagnostičkog algoritma koji uz navedene metode inkorporira citogenetičke i molekularno-genetičke analize u integrirani dijagnostički pristup. Cilj: Predstaviti prednosti i nedostatke integriranog dijagnostičkog pristupa u dijagnostici akutne mijeloične leukemije. Metode: Za potrebe neeksperimentalnog kvalitativnog istraživanja, pretražene su relevantne baze podataka (PubMed, Scopus i Web of Science). Pretraga baza u širem opsegu provedena je uz pomoć ključnih riječi acute myeloid leukemia, cytomorphology, flow cytometry, cytogenetic abnormalities i molecular diagnostics. Za konačnu analizu, odabrani su naučni radovi koji zadovoljavaju kriterije relevantnosti i povezanosti s postavljenim ciljem i temom istraživanja. Rezultati: Integracija dijagnostičkih modaliteta u AML predstavlja veliki izazov zbog kontinuriane složenosti i opterećenja za zdravstvene profesionalce. Kao značajne prednosti izdvajaju se mogućnost umrežavanja rezultata različitih dijagnostičkih modaliteta, te detekcija nespecifičnih i izazovnih slučajeva AML. Prijavljeni nedostaci se odnose na potrebu za jedinstvenim protokolima, nepredvidiv turnaround time, validaciju i potrebu za visoko specija-liziranim osobljem. Danas se sve više pažnje pridaje AI (engl. artifical intelligence) i njenoj sposobnosti da obradi podatke s ciljem pružanja brzih i preciznih dijagnostičkih i prognostičkih informacija što predstavlja obećavajući koncept u AML-u. Usvajanje ove paradigme znatno bi olakšalo trenutne pristupe i unaprijedilo koncept zdravstvene zaštite. Zaključak: Integrirani dijagnostički pristup ima za cilj poboljšati kvalitet pojedinačnih metoda primjenom dosadašnjih saznanja i paralelnim testiranjem novih mogućnosti. S razvojem precizne medicine, ovaj dijagnostički model će u budućnosti dobiti dodatni značaj. Neovisno od utvrđenih prednosti i nedostatka, dostupna istraživanja ukazuju na nužnost dodatnih napora i primjenu AI za uspostavljanje standardiziranog integriranog pristupa na globalnom nivou.

Glioblastoma multiforme (GBM) is the most frequent type of primary astrocytomas. We examined the association between single nucleotide polymorphisms (SNPs) in Aurora kinase A (AURKA), Aurora kinase B (AURKB), Aurora kinase C (AURKC) and Polo-like kinase 1 (PLK1) mitotic checkpoint genes and GBM risk by qPCR genotyping. In silico analysis was performed to evaluate effects of polymorphic biological sequences on protein binding motifs. Chi-square and Fisher statistics revealed a significant difference in genotypes frequencies between GBM patients and controls for AURKB rs2289590 variant (p = 0.038). Association with decreased GBM risk was demonstrated for AURKB rs2289590 AC genotype (OR = 0.54; 95% CI = 0.33–0.88; p = 0.015). Furthermore, AURKC rs11084490 CG genotype was associated with lower GBM risk (OR = 0.57; 95% CI = 0.34–0.95; p = 0.031). Bioinformatic analysis of rs2289590 polymorphic region identified additional binding site for the Yin-Yang 1 (YY1) transcription factor in the presence of C allele. Our results indicated that rs2289590 in AURKB and rs11084490 in AURKC were associated with a reduced GBM risk. The present study was performed on a less numerous but ethnically homogeneous population. Hence, future investigations in larger and multiethnic groups are needed to strengthen these results.

Context Neoangiogenesis and lymphangio-genesis are essential for the growth of tumor and progression of malignancy. Objective The study examined the significance of VEGF-C expression in comparison to classical prognostic factors in differentiated thyroid carcinoma (DTC), as well as an independent prognostic marker in DTC. Design The study included 81 patients with DTC allocated in two groups according to the type of cancer (follicular versus papillary) and then compared to expression of VEGF-C and clinicopathological features. Methods Expression of VEGF-C was identified with anti-VEGF-C antibody using tris-EDTA buffer Antigen Retrieval Protocol. Each specimen was scored with a semi-quantitative score system (H-score). Results The analysis of T staging system showed a linear correlation between the size of a tumor, expression of VEGF-C and recurrence of a disease, with a statistical significance (p < 0.0001). There was a clear and significant correlation between VEGF-C expression and T stage in patients with papillary carcinoma (p = 0.0294). Analysis of invasion of a surgical margin demonstrated significant positivity in patients with papillary thyroid cancers who expressed VEGF-C (p = 0.0207) indicating the worse prognosis of a disease. Also a statistically significant correlation was between VEGF-C and extrathyroid extension, indicating the worse prognosis (p = 0.0133) in papillary cancers. The level of VEGF-C expression was statistically significant in patients with papillary thyroid cancer (p = 0.039). Conclusions This study undoubtedly demonstrates that VEGF-C expression is an evident negative prognostic factor in patients with papillary thyroid carcinoma, along with the classic prognostic factors, such as a larger tumor size, tumor margin involvement, extrathyroid extension, i.e. local aggressiveness.

The identification of mutually exclusive somatic mutations shared among myeloproliferative neoplasm (MPN) subtypes has provided a powerful tool for studying disease evolution. Clinical features, gene mutations, and survival over 18 years were analyzed in MPN patients. One hundred thirty-eight MPN patients were subcategorized according to MPN subtypes: essential thrombocythemia (ET, n = 41), polycythemia vera (PV, n = 56), primary myelofibrosis (PMF, n = 10), and MPN unclassified (MPN-U, n = 31). Patient characteristics included clinical parameters, overall survival (OS), and mutational status of the Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) genes. We compared hematologic and clinical features of JAK2V617F-ET vs. CALR-mutated ET vs. JAK2V617F-PV patients. JAK2V617F-patients had higher values of erythrocytes, hemoglobin, and hematocrit compared to CALR-mutated patients (p < 0.05). The mutant allele burden in JAK2V617F-PV and JAK2V617F-ET patients directly correlated with erythrocyte, hemoglobin, and hematocrit values, but it inversely correlated with platelet count. Thus, mutant allele burden was an indicator of the clinical phenotype in JAK2V617F-MPN patients. OS was not affected by the mutational status. In general, mutated JAK2, CALR, and MPL genes left specific hematological signatures.