Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody.

Lymphocytic hypophysitis (LYH) is a rare chronic inflammatory disease characterized by lymphocytic infiltration of the anterior or posterior pituitary gland and hypothalamus. LYH is subdivided into lymphocytic adenohypophysitis (LAH), lymphocytic infundibulo-neurohypophysitis (LINH), and lymphocytic panhypophysitis (LPH) depending on the primary site. Most cases occur in adults, with few cases reported in children, and it is especially important to distinguish LYH from suprasellar malignancies, such as germ cell tumors and other neoplastic diseases. Although a biopsy is necessary for definitive diagnosis, it is desirable to be able to diagnose the disease without biopsy if possible, especially in children, because of the surgical invasiveness of the procedure. Recently, serum anti-rabphilin-3A antibodies have attracted attention as diagnostic markers for LYH, especially in LINH, but there are only a few reports on pediatric patients. In the present study, we experienced two children with LPH and LAH, respectively, who tested positive for anti-rabphilin-3A antibodies. This is the first report of children with LYH other than LINH positive for anti-rabphilin-3A antibodies, and anti-rabphilin-3A antibodies may be a useful non-invasive diagnostic marker not only for LINH but also for LYH in general. We also discuss the sensitivity and specificity of anti-rabphilin-3A antibody testing in cases where histological diagnosis has been made.

Lynch syndrome-associated chordoma with high tumor mutational burden and significant response to immune checkpoint inhibitors.

Chordoma is a rare malignant bone tumor arising from notochordal tissue. Conventional treatments, such as radical resection and high-dose irradiation, frequently fail to control the tumor, resulting in recurrence and re-growth. In this study, genetic analysis of the tumor in a 72-year-old male patient with refractory conventional chordoma of the skull base revealed a high tumor mutational burden (TMB) and mutations in the MSH6 and MLH1 genes, which are found in Lynch syndrome. The patient and his family had a dense cancer history, and subsequent germline genetic testing revealed Lynch syndrome. This is the first report of a chordoma that has been genetically proven to be Lynch syndrome. Chordomas usually have low TMB; however, this is an unusual case, because the TMB was high, and immune checkpoint inhibitors effectively controlled the tumor. This case provides a basis for determining the indications for immunotherapy of chordoma based on the genetic analysis. Therefore, further extensive genetic analysis in the future will help to stratify the treatment of chordoma.

An epileptogenic intracranial cystic lesion lined with fallopian tube-type epithelium: illustrative case.

BACKGROUND: Intracranial cystic lesions are often a trigger for epileptic seizures. However, there has never been a report of a cystic lesion lined with fallopian tube-type epithelium. OBSERVATIONS: A 48-year-old female presented with a cystic lesion in the right occipital lobe, which gradually grew over 8 years. Right occipital lobe epilepsy was diagnosed based on visual aura, convulsive seizures, and electroencephalogram findings and the cyst was surgically removed. Further examination revealed the cyst was lined with ciliated cells, which had morphological and immunohistochemical features similar to those of fallopian tube epithelium. LESSONS: The characteristics of the cyst did not conform to any known types of benign cystic lesion. To the authors' knowledge, no such cyst has been reported before. The authors discuss the origins and pathogenesis of this unfamiliar cystic lesion.

A case of primary hepatic mucosa-associated lymphoid tissue lymphoma incidentally found in the sustained virological response state of chronic hepatitis C: review of the literature of this rare disease.

A 54-year-old woman finished the treatment for chronic hepatitis C and achieved sustained virological response. She was identified with some tumor lesions at her liver during follow-up observation by ultrasonography. From contrast-enhanced computed tomography, there were four tumors at sub-segment 4/5, S5, S6, and S7. These lesions are slightly enhanced on arterial phase and washed out on delayed phase. Contrast-enhanced magnetic resonance imaging showed slight enhancement on arterial phase and defect on hepatocyte phase. Tumor markers including alpha fetoprotein, Des-Gamma-Carboxy Prothrombin, carcinoembryonic antigen, and carbohydrate antigen (CA19-9) were within normal range. The patient underwent partial hepatectomies of four tumors at S4/5, S5, S6, and S7. The patient was recovering well, so he discharged our hospital after 10 days from the operation. The histological assay of the resected specimen showed accumulation of lymphocyte with hyperplasia of lymphoid follicles accordant with tumor lesions. Immunohistochemical staining assay revealed a positive for CD3, CD20, CD10, and bcl-2. These findings eventually made a diagnosis of all four tumors as mucosa-associated lymphoid tissue lymphoma. Since previously published case reports and our case described nonspecific clinical features of this rare disease, it was difficult to get the certain diagnosis before histological confirmation and non-anatomical partial liver resection may be a good choice for both diagnosis and local therapy.

Preoperative Diagnosis of Intestinal Endometriosis by Magnifying Colonoscopy and Target Biopsy.

Endometriosis can affect any portion of the gastrointestinal tract. A preoperative definitive diagnosis of intestinal endometriosis is difficult, because there is no characteristic endoscopic finding and the endoscopic biopsies usually sample insufficient endometrial tissue for pathologic diagnosis. To our knowledge, the magnifying endoscopic features of intestinal mucosal endometriosis have not been well documented. In this study, we report a case of intestinal endometriosis diagnosed preoperatively by magnifying image-enhanced colonoscopy and target biopsy. A 45-year-old woman was referred to our hospital with abdominal pain in the left lower quadrant. Colonoscopy showed a submucosal tumor-like lesion of approximately 30 mm in diameter exhibiting surface reddening and granular changes in the sigmoid colon. Magnifying endoscopy revealed sparsely distributed round pits in the granules. The mucosal biopsy specimen from the granule provided the diagnosis of intestinal endometriosis. Segmental sigmoidectomy was performed, and pathological examination revealed that the surface colonic mucosa was partially replaced by endometrial tissue, which accounted for the granular change detected in the colonoscopy. It can be speculated that the round pit might reflect the endometrial glands surrounded by endometrial stroma. This case illustrated the characteristic finding and utility of magnifying endoscopy for mucosal intestinal endometriosis.

Defining the roles of α-catenin in cell adhesion and cytoskeleton organization: isolation of F9 cells completely lacking cadherin-catenin complex.

To define the roles of α-catenin in cell-cell adhesion, the E-cadherin, α-catenin, ß-catenin, and/or plakoglobin genes were inactivated in F9 teratocarcinoma cells. An E-cadherin-α-catenin fusion protein (Eα) restored full cell-adhesion function and organized the actin-based cytoskeleton and ZO-1, an actin filament binding protein, in F9 cells lacking all endogenous cadherin-catenin complex components. There were two types of cadherin-based cell-adhesion junctions in parental F9 cells, those with ZO-1 and those without ZO-1, and only junctions with ZO-1 were associated with thick actin bundles. Additionally, ZO-1 localized to most Eα-based cell-adhesion junctions. These data demonstrated that Eα supported cadherin-based cell adhesion and recruited actin bundles and ZO-1 to cell-cell contact sites in the absence of cytoplasmic α-catenin. Moreover, the C-terminal half of α-catenin was involved in the formation of cell-adhesion junctions with ZO-1.