Enucleation assisted with filler for open-globe injury

In cases of severe open-globe injury, it is often difficult to reconstruct the globe and maintain visual acuity. Ocular globe enucleation may decrease the risk of sympathetic ophthalmia in the fellow eye. However, the surgical procedure is difficult to perform with an open globe, because the injured globe is inclined to collapse. We report the case of an enucleation for an open-globe injury in which we used alginate, which is often used for dental impressions, as filler for the collapsed globe. We were able to maintain the resistance of the globe sufficiently well enough to perform the procedure easily and without complication. Thus, alginate may be a novel aid to assist in enucleation by preserving globe resistance

Thyroid metastasis of pulmonary adenocarcinoma with EGFR G719A mutation: Genetic confirmation with liquid-based cytology specimens

Presented is a case of advanced pulmonary adenocarcinoma and a thyroid tumour with calcification. EGFR gene mutation testing of the thyroid aspirate specimen revealed a G719A point mutation in exon 18 that was identical to that in the patient's known lung cancer. This case demonstrates the usefulness of liquid-based cytology samples, which enable genetic testing leading to a conclusive diagnosis while preserving the cytological specimens

A multilocular thymic cyst associated with mediastinal seminoma: evidence for its medullary epithelial origin highlighted by POU2F3-positive thymic tuft cells and concomitant myoid cell proliferation

Multilocular thymic cyst (MTC) and germ cell tumors are common diseases that impact the mediastinum. Correctly diagnosing these diseases can be difficult because several other conditions can mimic them. We report a male patient with MTC associated with mediastinal seminoma. A needle biopsy of the mediastinal tumor revealed numerous epithelioid cell granulomas that mimicked sarcoidosis or mycobacterial infection. However, large atypical cells positive for Oct3/4 and KIT were noted between the granulomas; thus, we diagnosed the patient with mediastinal seminoma. The resected tumor, after chemotherapy, consisted of multiple cystic lesions, and a residual germ cell tumor was first considered. However, thymic medulla-specific elements, namely, POU2F3-positive thymic tuft cells and rhabdomyomatous myoid cells accompanying the epithelium, led to the correct diagnosis of MTC. Our case underscores the importance of recognizing the histological features associated with mediastinal seminoma and provides novel findings for MTC pathogenesis, namely, the presence of thymic tuft cells

Central nervous system mature teratoma producing carbohydrate antigen 19-9: illustrative case

BACKGROUND: Central nervous system (CNS) mature teratoma is a rare disease with symptoms that can vary according to tumor location. Most lesions are benign; rarely, malignancy can develop in any of the somatic components. Elevated levels of tumor markers such as α-fetoprotein and β-human chorionic gonadotropin are not usually found in patients with CNS mature teratoma, and no reports have described an association with carbohydrate antigen 19-9 (CA19-9). OBSERVATIONS: A 64-year-old woman with headache was found to have a mass lesion in the anterior cranial fossa. Magnetic resonance imaging of the brain suggested a mature teratoma. Serum and cerebrospinal fluid (CSF) tests showed significant CA19-9 elevations (2, 770 U/mL and 4, 387 U/mL, respectively). Other examinations, including whole-body 18F-fluorodeoxyglucose positron emission tomography, did not detect the origin of elevated CA19-9, suggesting that the high CA19-9 levels were caused by intracranial tumor. The patient underwent tumor removal. The histopathological diagnosis was mature teratoma with positive CA19-9 staining. CA19-9 levels in serum and CSF decreased significantly after tumor removal. LESSONS: The histopathological findings and postoperative decreased CA19-9 levels established the diagnosis of CA19-9-producing CNS mature teratoma. CNS mature teratoma can cause elevations in CA19-9 in cases with absence of neoplasms in the trunk

Papillary glioneuronal tumor growing slowly for 26 years: illustrative case

BACKGROUND: Papillary glioneuronal tumors (PGNTs) are classified as a type of World Health Organization grade I mixed neuronal-glial tumor. Most PGNTs involve cystic formations with mural nodules and solid components in the cerebral hemispheres, and PGNTs occur mainly in young adults. The long-term prognosis of PGNTs remains unclear. OBSERVATIONS: A 38-year-old male had been diagnosed with an arachnoid cyst associated with epilepsy in a local hospital. The initial magnetic resonance imaging (MRI) study showed the tumor as a heterogeneously enhanced nodule in the left postcentral gyrus. Subsequent MRI studies showed slow growth of the tumor for 26 years. He underwent gross total resection to control his epilepsy. The histopathological findings revealed pseudopapillary structures involving hyalinized blood vessels with a single or pseudostratified layer of cuboidal glial cells with round nuclei and scant cytoplasm. At the periphery of the lesion, Rosenthal fibers and acidophilic granule bodies were observed in the gliotic brain tissue. Immunohistochemically, some interpapillary cells were positive for NeuN. On the basis of these findings, the tumor was diagnosed as a PGNT. LESSONS: This PGNT showed slow growth for 26 years. When recognizing a slowly growing tumor in the cerebral hemispheres of relatively young people that is associated with epileptic seizures, PGNT should be considered as a differential diagnosis

Application of complement component 4d immunohistochemistry to ABO-compatible and ABO-incompatible liver transplantation.

Antibody-mediated rejection (AMR) is difficult to diagnose after ABO-compatible or ABO-identical (ABO-C) liver transplantation. To determine whether complement component 4d (C4d) immunostaining would be useful for diagnosing AMR, we compared the results of C4d immunohistochemistry for allograft biopsy samples with assays for anti-donor antibodies performed at the time of biopsy. One hundred fourteen patients with ABO-C grafts and 29 patients with ABO-incompatible (ABO-I) grafts were included. Linear C4d endothelial staining (identifiable with a 4× objective lens) or staining seen in 50% or more of the portal tracts was considered positive. Five of the 114 patients (4%) with ABO-C grafts and 15 of the 29 patients (52%) with ABO-I grafts showed C4d positivity. In the ABO-C cases, C4d positivity in late biopsy samples (≥30 days after transplantation) was associated with stage 2 or higher fibrosis (METAVIR score; P = 0.01) and with the presence of donor-specific anti-human leukocyte antigen DR antibodies (HLA-DR DSAs) with a mean fluorescence intensity > 5000 according to the Luminex single-antigen bead assay (P = 0.04). Conversely, the presence of HLA-DR DSAs was associated with the presence of stage 2 or higher fibrosis, acute cellular rejection, and C4d positivity. During the 2-year follow-up, neither C4d positivity nor HLA-DR DSAs were related to graft loss. Among ABO-I patients, C4d positivity was not associated with allograft dysfunction or fibrosis. Only 3 of the 15 C4d-positive patients (20%) showed periportal hemorrhagic edema, which could be a histological sign of AMR in ABO-I grafts, and they were the only cases associated with elevations in anti-donor A/B antibody titers. In conclusion, C4d endothelial positivity among ABO-C patients is an uncommon event that could be associated with chronic graft damage with or without clinical AMR. C4d positivity is common among ABO-I patients and may not be associated with allograft dysfunction if alloantibody titers are not elevated

Evaluation of Kidney Histological Images Using Unsupervised Deep Learning

[Introduction] Evaluating histopathology via machine learning has gained research and clinical interest, and the performance of supervised learning tasks has been described in various areas of medicine. Unsupervised learning of histological images has the advantage of reproducibility for labeling; however, the relationship between unsupervised evaluation and clinical information remains unclear in nephrology. [Methods] We propose an unsupervised approach combining convolutional neural networks (CNNs) and a visualization algorithm to cluster the histological images and calculate the score for patients. We applied the approach to the entire images or patched images of the glomerulus of kidney biopsy samples stained with hematoxylin and eosin obtained from 68 patients with immunoglobulin A nephropathy. We assessed the relationship between the obtained scores and clinical variables of urinary occult blood, urinary protein, serum creatinine (SCr), systolic blood pressure, and age. [Results] The glomeruli of the patients were classified into 12 distinct classes and 10 patches. The output of the fine-tuned CNN, which we defined as the histological scores, had significant relationships with assessed clinical variables. In addition, the clustering and visualization results suggested that the defined clusters captured important findings when evaluating renal histopathology. For the score of the patch-based cluster containing crescentic glomeruli, SCr (coefficient = 0.09, P = 0.019) had a significant relationship. [Conclusion] The proposed approach could successfully extract features that were related to the clinical variables from the kidney biopsy images along with the visualization for interpretability. The approach could aid in the quantified evaluation of renal histopathology

Inter-assay variability of next-generation sequencing-based gene panels

BACKGROUND: Tumor heterogeneity has been known to cause inter-assay discordance among next-generation sequencing (NGS) results. However, whether preclinical factors such as sample type, sample quality and analytical features of gene panel can affect the concordance between two different assays remains largely unexplored. METHODS: Replicate sets of DNA samples extracted from formalin-fixed paraffin-embedded tissues (FFPE) (n = 20) and fresh frozen (FF) tissues (n = 10) were herein analyzed using a tumor-only (TO) and paired tumor-normal (TN) gene panel in laboratories certified by the Clinical Laboratory Improvement Amendment. Reported variants from the TO and TN panels were then compared. Furthermore, additional FFPE samples were sequentially sliced from the same FFPE block and submitted to another TN panel assay. RESULTS: Substantial discordance (71.8%) was observed between the results of the two panels despite using identical DNA samples, with the discordance rate being significantly higher for FFPE samples (p < 0.05). Among the 99 variants reported only in the TO panel, 32.3% were consistent with germline variants, which were excluded in the TN panel, while 30.3% had an allele frequency of less than 5%, some of which were highly likely to be artificial calls. The comparison of two independent TN panel assay results from the same FFPE block also showed substantial discordance rate (55.3%). CONCLUSIONS: In the context of clinical settings, our comparative analysis revealed that inter-NGS assay discordance commonly occurred due to sample types and the different analytical features of each panel