Sellar germinoma mimicking IgG4-related hypophysitis: a case report

Background The differential diagnosis of IgG4-related hypophysitis and other inflammatory diseases or tumors involving sellar region is challenging even after sellar biopsy. Sellar germinoma is usually infiltrated by lymphocytes or plasma cells, and may be confused with hypophysitis. Case presentation A 36-year-old man with diabetes insipidus, elevated serum IgG4 level (336 mg/dl), and sellar mass was suspected to have IgG4-related hypophysitis, and no other lesion of IgG4-related disease was detected. After treated by prednisone and mycophenolate mofetil, the serum IgG4 decreased to 214 mg/dl. However, after withdrawal of the drugs, the IgG4 level increased to 308 mg/dl. Endocrine assessments revealed panhypopituitarism, and the sellar mass enlarged. Transsphenoidal sellar exploration and biopsy was conducted. Pathological examination showed that the lesion was germinoma with lymphocytes and plasma cells infiltration, and IgG4-staining was positive (70/HPF, IgG4/IgG ratio = 10%). The patient was then treated by cisplatin and etoposide. After four cycles of chemotherapy, the serum IgG4 was 201 mg/dl, and the sellar mass was invisible. Conclusion Sellar germinoma can mimic the clinical characteristics of IgG4-related hypophysitis. Poor response to glucocorticoids can be used as an exclusion criterion in the clinical diagnosis of IgG4-related hypophysitis.

Adult gangliocytoma arising within the lateral ventricle: A case report and review of the literature

Background: Gangliocytomas are rare neuronal tumors with an incidence of <1% of all central nervous system (CNS) neoplasms. They occur mostly in the pediatric age group, localizing within the cerebral cortex, most often the temporal lobe. Case Description: We report a case of an intracranial gangliocytoma arising within the lateral ventricle in a 66-year-old female. Magnetic resonance imaging of the brain showed a diffusely enhancing lobulated mass situated within the frontal horn of the right lateral ventricle with extension into the foramen of Monro and obstructive hydrocephalus. The patient underwent an interhemispheric transcallosal approach with gross total resection and relief of her hydrocephalus. Pathological examination showed clusters of highly pleomorphic neuron-like cells without evidence of neoplastic glial cells. Histopathological and immunohistochemistry findings were consistent with the diagnosis of gangliocytoma (World Health Organization Grade 1). Conclusion: Gangliocytomas are rare low-grade CNS neoplasms that can present in an older population within unusual locations and should be included within the differential whenever a suspicious lesion is encountered.

Concurrent myasthenia gravis-related cervical thymoma in a patient with diffuse large B-cell lymphoma: a case report

Background Cervical thymoma is a rare thymic epithelial neoplasm. Evidence supports an increased risk of second primary malignancies in patients with thymoma. We report a rare case of a patient with synchronous cervical thymoma and diffuse large B-cell lymphoma. Case presentation An 81-year-old Thai woman was referred for further treatment of diffuse large B-cell lymphoma at Siriraj Hospital, Bangkok, Thailand. While waiting for a review of the original pathological examination of a mass in the left neck and a mass in the left arm, the attending physician noticed ptosis of the upper eyelids, which was proven to be caused by myasthenia gravis. The final pathology review confirmed that the arm mass was diffuse large B-cell lymphoma, but the neck mass was cervical thymoma, type B1, not diffuse large B-cell lymphoma. Interestingly, the patient reported that the arm mass had been present for 2 years, while the neck mass had grown rapidly in the past month. A diagnostic challenge had arisen when the initial morphological evaluation was not performed with care, causing the first pathologist to misinterpret that the neoplastic cells in both masses were the same. Conclusion Concurrent cervical thymoma and diffuse large B-cell lymphoma were proven after a careful pathology review, leading to better clinical management.

INVESTIGATIONS AND DIAGNOSIS OF GIANT PERIURETHRAL CONDYLOMA AND EFFICACY OF THE MANAGEMENT WITH CONVENTIONAL APPROACH: A CASE REPORT

Objective: This study aims to show our first case of female with periurethral condyloma and how we managed it. Case(s) Presentation: A 40-year-old female came with asymptomatic lesion in the genital area for 4 months, without any history of promiscuity. The physical examination showed a mass of 5 x 5 cm located in the periurethral area. The patient underwent mass excisions without any complication, further pathological examination confirmed the diagnosis of CA. Discussion: After operation and discharge there are no sign of recurrence after 6 months follow up. Conclusion: Despite the rare occurrence in periurethral region, clinicians should be aware of CA case in female and for our first case we used mass excision with satisfactory result.

Case Report: Uterine Adenosarcoma With Sarcomatous Overgrowth and Malignant Heterologous Elements

A 46- year-old woman presented a uterine adenosarcoma originating in the lower uterine segment. The diagnosis was made in an endometrial biopsy and confirmed in the pathological examination of the complete surgical specimen, both identifying heterologous malignant elements. In addition, complementary immunohistochemical studies were performed. We reviewed the literature, illustrating the clinical and morphological characteristics and the differential diagnoses to be evaluated.

“Worm within worm”: acute appendicitis containing an adult Ascaris lumbricoïdes

Appendicitis is the first aetiology for abdominal surgical emergency. Ascariasis is the most common helminth infection in tropical countries where it is endemic. The ability of intestinal helminths to wander through the digestive system means that it can end up in the appendix lumen and lead to appendicitis by luminal obstruction. However, this presentation is still rarely described in the literature. In fact, most of the diagnoses of roundworm associated with appendicitis are made retrospectively by the discovery of its eggs on the pathological examination of an appendectomy specimen. We report the case of a 7-year-old patient living in a tropical area who consulted for acute right lower quadrant pain. The ultrasound suspected the diagnosis of appendicitis and also revealed multiple intestinal worms including one in contact with the inflamed appendix. Surgical exploration confirmed appendicitis associated with roundworm partly in the appendicular lumen through a perforation.

Concurrence of Marjolin’s Ulcer in the Lower Limb in a Patient with Idiopathic Multicentric Castleman Disease: A Case Report

Idiopathic multicentric Castleman disease (iMCD) is characterized by the benign proliferation of lymphoid cells in multiple regions. However, the co-occurrence of epithelial malignancy and idiopathic multicentric Castleman disease (iMCD) is rarely reported. Herein, we present a case of iMCD mimicking lymph nodal metastasis of Marjolin’s ulcer in the lower extremity. A 53-year-old male presented with an unhealed chronic ulcer on the left lower leg and foot accompanied by an enlarged mass in the left inguinal region. Intralesional biopsy was performed, and pathological examination showed squamous cell carcinoma (SCC). Imaged studies revealed left calcaneus bone invasion, and lymph nodal metastasis was suspected by the cancer TNM staging of T4N2M0 pre-operatively. The patient received below-knee amputation and lymph node dissection; intraoperative histological examination showed no lymphatic nodal malignancy and diagnosed the patient as having iMCD with lymphadenopathy. The patient recovered uneventfully and was referred to a hematologist for further treatment.

Importance of Eosinophilic Infiltration of the Colonic Mucosa in Ulcerative Colitis Patients who are Refractory to Maintenance Therapy

Eosinophilic infiltration is sometimes observed histologically in ulcerative colitis (UC), but the effect of the degree of infiltration on the treatment course for UC is not completely studied. We investigated whether short-term steroid administration in UC patients refractory to maintenance therapy, with high eosinophilic infiltration in the colonic mucosa, contributed to clinical and endoscopic improvement. Ten patients with endoscopically active and pathologically high eosinophilic infiltration, based on pathological examination using endoscopic biopsy, were examined for clinical background when starting steroid treatment; clinical and endoscopic improvement before and after steroid use were assessed prospectively. The average initial steroid dosage and duration of use were 21.0 mg and 102.7 days, respectively. The mean values before and after steroid use of clinical activity index, Mayo endoscopic subscore, and UC endoscopic index of severity were 2.4 and 1.0, 1.8 and 0.7, and 3.9 and 1.1, respectively. All these scores improved significantly after steroid use (P=0.04, P<0.01, P<0.01, respectively). Steroids were discontinued in all patients; no patients required steroid re-administration. There may be cases of UC with eosinophilic infiltration into the colonic mucosa and resistant to maintenance treatment, suggesting that short-term steroid administration may contribute to clinical and endoscopic improvements.

Three Novel Variants of CEP290 and CC2D2DA and a Link Between ZNF77 and SHH Signaling Pathway Are Found in Two Meckel-Gruber Syndrome Fetuses

Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive inherited disorder. Missed diagnosis might happen in clinical works due to an unclear genotype–phenotype correlation. We analyzed two families visiting our center; the parents are normal; each of the family aborted a fetus at 12WG. Following ultrasonography and pathological examination, both were diagnosed as MKS. Whole exome sequencing identified a compound heterozygous of two novel variants of CEP290 and a heterozygous of a novel variant of CC2D2A. Frameshift mutations in ZNF77 were also detected. Western blot analyzing whole-brain tissue showed that the expression of ZNF77, CC2D2A, and CEP290 was enhanced. HEK293T transfected with over-expression wildtype/mutated ZNF77 plasmid showed that SHH was increased in wildtype ZNF77 cells, while SHH and CC2D2A were increased in mutated ZNF77 cells. Our research provided two novel pathogenic variants of CEP290 and CC2D2A and suggested that ZNF77 might promote the expression of CC2D2A and regulate the amount of SHH.

Ectonucleotide Pyrophosphatase Phosphodiesterase 1 Is Correlated With Insulin Resistance and Lipid Metabolism Disorders in the Rat Model of Polycystic Ovary Syndrome

Previous studies have shown that ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) may be an inhibitor of the insulin signalling pathway, and insulin resistance (IR) is believed to be the core mechanism in the pathophysiology of polycystic ovary syndrome (PCOS). This study was aimed to investigate the expression of ENPP1 in different tissues of PCOS rats and to analyse its potential role in the pathophysiology of PCOS. Eighteen 23-day-old Sprague-Dawley rats were divided into PCOS and control groups (n= 9/group). Samples were collected after 20 days. Pathological examination and immunofluorescence were performed. Western blotting results of ENPP1 in the ovaries were analysed. Serum levels of ENPP1, hormones, fasting blood glucose (FBG), serum lipids were measured. Levels of ENPP1, testosterone (T), FBG, fasting insulin (FINS), homeostasis model assessment of IR (HOMA-IR), free fatty acids (FFAs), leptin, cholesterol (TC), triglyceride (TG), and low-density lipoprotein cholesterol (LDL-C) were significantly higher in PCOS group, while adiponectin (ADP) and high-density lipoprotein cholesterol (HDL-C) were significantly lower. Spearman’s rank correlation analysis showed that ENPP1 was correlated with T, HOMA-IR, FFAs, leptin, serum lipids and ADP. MRNA levels of ENPP1, BAX, and IRS1 were higher in the ovaries, skeletal muscle, subcutaneous fat, and visceral fat of PCOS rats, and the protein expression of ENPP1 was significantly higher in the ovaries. Our results revealed that ENPP1 is highly associated with IR and lipid metabolism-related molecules, which may have play important roles in PCOS pathophysiological changes.