Ectopic orbital brain tissue: a case report with radiographic and clinical review.

Orbital heterotopic brain tissue is a rare entity with heterogenous clinical features requiring a multi-faceted diagnostic approach. The authors present a case of ectopic orbital brain tissue in an infant with a comprehensive literature review to highlight the radiographic findings of these lesions. Imaging findings are variable but describe well-circumscribed homogenous lesions with variable enhancement, without communication intracranially. The combination of computed tomography and magnetic resonance imaging can identify associated bony abnormalities, lesion-specific features, and effects on surrounding structures, which in combination with the clinical exam can be a valuable diagnostic and surveillance tool. Although ectopic orbital brain tumors are benign with excellent outcomes following complete resection, conservative management with observation and serial imaging may be an alternative method of management in patients with mild, non-vision threatening, non-distorting tumors.

Outcomes of Patients With Thyroid Eye Disease Partially Treated With Teprotumumab.

PURPOSE: In response to the coronavirus (COVID-19) pandemic, teprotumumab production was temporarily halted with resources diverted toward vaccine production. Many patients who initiated treatment with teprotumumab for thyroid eye disease were forced to deviate from the standard protocol. This study investigates the response of teprotumumab when patients receive fewer than the standard 8-dose regimen. METHODS: This observational cross-sectional cohort study included patients from 15 institutions with active or minimal to no clinical activity thyroid eye disease treated with the standard teprotumumab infusion protocol. Patients were included if they had completed at least 1 teprotumumab infusion and had not yet completed all 8 planned infusions. Data were collected before teprotumumab initiation, within 3 weeks of last dose before interruption, and at the visit before teprotumumab reinitiation. The primary outcome measure was reduction in proptosis more than 2 mm. Secondary outcome measures included change in clinical activity score (CAS), extraocular motility restriction, margin reflex distance-1 (MRD1), and reported adverse events. RESULTS: The study included 74 patients. Mean age was 57.8 years, and 77% were female. There were 62 active and 12 minimal to no clinical activity patients. Patients completed an average of 4.2 teprotumumab infusions before interruption. A significant mean reduction in proptosis (-2.9 mm in active and -2.8 mm in minimal to no clinical activity patients, P < 0.01) was noted and maintained during interruption. For active patients, a 3.4-point reduction in CAS ( P < 0.01) and reduction in ocular motility restriction ( P < 0.01) were maintained during interruption. CONCLUSIONS: Patients partially treated with teprotumumab achieve significant reduction in proptosis, CAS, and extraocular muscle restriction and maintain these improvements through the period of interruption.

Sebaceous Carcinoma of the Eyelid: Proposed Nomenclature for Multifocal and Multicentric Disease.

PURPOSE: To review clinical presentations of periocular sebaceous carcinoma (SC) and introduce standardized nomenclature for multicentric and multifocal disease presentation. METHODS: A comprehensive PubMed/Medline search was conducted to identify all articles reporting periocular multicentric or multifocal SC presentations. The authors also highlight an additional case of SC presenting with 2 clinically distinct tumor foci and complete secondary invasion of the lacrimal gland. RESULTS: This review summarizes clinical presentations of periocular SC exhibiting discrete foci of microinvasion reported in the literature. Discrete microinvasion was associated with high rates of misdiagnosis (80%), simultaneous involvement of both upper and lower eyelids (80%), pagetoid spread (80%), multinodular growth (33%), local tumor spread (60%), previous eyelid manipulation (40%), and local recurrence (40%). Eyelid multifocality with clinically discrete nodules (42%) was associated with more advanced disease including orbital extension and regional invasion (80%). CONCLUSIONS: Despite previous reported associations with poorer outcomes, there is no consensus in the definition or nomenclature for discrete microinvasive or clinical disease presentations in periocular SC. The authors recommend defining multicentric disease as discrete foci of microinvasive tumor with basement membrane disruption and multifocal disease as discrete clinically evident nodules involving both the upper and lower eyelids. Differentiating between discrete microinvasive (multicentric) and clinically nodular (multifocal) disease may improve risk stratification to most accurately identify patients who require more aggressive management and surveillance.

Immunoexpression of 5-methylcytosine (5mc) in Bone Marrow Haematopoietic Cells in Patients with Myelodysplastic Syndromes.

Myelodysplastic syndromes (MDS) are biologically and clinically heterogenous groups of clonal haematopoietic stem cell diseases characterized by ineffective haematopoiesis and peripheral blood cytopenia, with a variable tendency to transform within acute leukaemia (AL). DNA hypermethylation and hypo-methylation are associated with cancer. Thus, the hypermethylation of DNA is essential for the molecular pathophysiology of MDS by inactivating genes involved in cell growth, differentiation and apoptosis. It was documented that the 5-methylcytosine (5mc) immunostaining score of BM haematopoietic mononuclear cells is higher in MDS patients than in a normal control group, and that the prognosis of the disease significantly correlated with global DNA methylation, age and IPSS score. In our study, we analysed the immunocytochemical expression of 5mc in bone marrow (BM) mononuclear cells from 13 MDS patients and a control group consisting of 13 patients with anaemia of chronic disease. The immunopositivity of 5mc BM mononuclear cells was statistically significantly higher in our MDS patients than in patients with anaemia of chronic disease. In most MDS patients (11 out of 13), a higher 5mc immunopositivity of BM mono-nuclear cells (above 10%) was found. Our results are in concordance with data from literature observing that a higher percentage of 5mc immunopositive BM mononuclear cells is documented in MDS patients.

Adenoid cystic carcinoma of the lacrimal gland metastatic to the kidney: case report and review of the literature.

INTRODUCTION: Adenoid cystic carcinoma (ACC) is a malignant neoplasm that arises within secretory glands. It rarely occurs in the lacrimal gland. Kidney metastases are very rare. CASE PRESENTATION: We report a case of a 76-year-old female patient treated with right radical nephrectomy because of the tumour mass of the right kidney. Well-circumscribed, firm, grey mass was found on the lower pole of the kidney. Histologically, tumour was considered to be ACC. Retrospective history data showed ACC of the lacrimal gland surgically treated 14 years before with metastasis to the lung operated seven years before. Our diagnosis was metastatic ACC to the kidney. CONCLUSION: ACC has a remarkable capacity for recurrence. To our knowledge, in the English-speaking area (PubMed), 10 cases of ACC metastatic to the kidney have been described to date, and this is the second reported case of kidney metastasis from primary lacrimal ACC.