Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

Purpose: The study aimed to generate a stepwise method to reduce the workload of full-scale RB1 sequencing for germline mutation screening in retinoblastoma (RB) patients. The implication of germline mutation in tumor focality was also determined in this study.

Methods: A stepwise method was created on the basis of "hotspot" exons analyzed using data on germline RB1 mutation in the RB1-Leiden Open Variation Database and then tested for mutation screening in the blood DNA of 42 patients with RB.

Deep Neck Infection: Atypical Presentation of Papillary Thyroid Cancer.

Deep neck infection is defined as an infectious process in the potential spaces and fascial plane of the neck which may result in a fatal complication. Prompt drainage and broad-spectrum antibiotics are the mainstays of treatment. Deep neck infection as the initial presentation of primary head and neck cancer is not common.

Predisposing Factors, Clinical Presentations, and Outcomes of Contact Lens-Related Pythium Keratitis.

Purpose: To describe predisposing factors, clinical presentations, and treatment outcomes of contact lens (CL)-related Pythium keratitis.

Methods: This was an 11-year retrospective study of CL-related Pythium keratitis conducted from 2009 to 2019. Six eyes of 6 patients were identified.

Silencing of the Long Noncoding RNA MYCNOS1 Suppresses Activity of MYCN-Amplified Retinoblastoma Without RB1 Mutation.

Purpose: MYCNOS (MYCN opposite strand) is co-amplified with MYCN in pediatric cancers, including retinoblastoma. MYCNOS encodes several RNA variants whose functions have not been elucidated in retinoblastoma. Thus, we attempted to identify MYCNOS variants in retinoblastoma and aimed to decipher the role of MYCNOS variant 1 (MYCNOS1) on the activity of MYCN-amplified retinoblastoma.

Clinical Presentations and Outcomes of Retinoblastoma Patients in relation to the Advent of New Multimodal Treatments: A 12-Year Report from Single Tertiary Referral Institute in Thailand.

Purpose: To investigate the clinical presentations and outcomes of retinoblastoma in relation to the advent of new multimodal treatments in Thailand. Retrospective case series. We evaluated the clinical presentation, staging, details of treatment, and treatment outcomes of retinoblastoma patients who were treated at Ramathibodi Hospital, Bangkok, Thailand, between January 1, 2007, and December 31, 2018.

Duodenal mature teratoma causing partial intestinal obstruction: A first case report in an adult.

Background: A teratoma is a germ cell tumor that is composed of tissue derived from two or three germ layers. Duodenal teratomas are extremely rare and have been exclusively reported in neonates and children. This is the third case of a teratoma primarily arising in the duodenum and the first case that occurred in an adult.

A three-dimensional organoid model recapitulates tumorigenic aspects and drug responses of advanced human retinoblastoma.

Persistent or recurrent retinoblastoma (RB) is associated with the presence of vitreous or/and subretinal seeds in advanced RB and represents a major cause of therapeutic failure. This necessitates the development of novel therapies and thus requires a model of advanced RB for testing candidate therapeutics. To this aim, we established and characterized a three-dimensional, self-organizing organoid model derived from chemotherapy-naïve tumors.

Lacrimal myoepithelial carcinoma ex recurrent pleomorphic adenoma: A clinicopathological report and review of the literature.

Myoepithelial carcinoma is an uncommon malignant tumor of the lacrimal gland, composed of neoplastic myoepithelial cells with an infiltrative growth. The present study describes a unique case of progressive proptosis and blindness of the right eye in a 68-year-old woman following total tumor removal for lacrimal pleomorphic adenoma. Clinical study, surgical exploration, and pathology revealed lacrimal myoepithelial carcinoma ex recurrent pleomorphic adenoma, T2N0M0.

A Novel Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease.

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in , the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemical laboratory examinations confirmed the ACTH-independent adrenal Cushing syndrome with negative Liddle test.

Bisphosphonate-related osteonecrosis of jaws in advanced stage breast cancer was detected from bone scan: a case report.

Bisphosphonates (BPs) are indicated to treat skeletal-related events (SREs) for cancer patients with bone metastasis. We report a 79-year-old woman with advanced stage breast cancer with bone metastasis who was prescribed BPs (zoledronate), then developed osteonecrosis of jaw. We provide a brief review of the pathogenesis, diagnosis and treatment of this complication.

Development of an Anti-Elicitin Antibody-Based Immunohistochemical Assay for Diagnosis of Pythiosis.

Pythiosis is an emerging and life-threatening infectious disease of humans and animals living in tropical and subtropical countries and is caused by the fungus-like organism Pythium insidiosum. Antifungals are ineffective against this pathogen. Most patients undergo surgical removal of the infected organ, and many die from advanced infections.

Fine-needle aspiration cytology of parathyroid carcinoma mimic hürthle cell thyroid neoplasm.

Background. Fine-needle aspiration (FNA) can cause misdiagnosis of cytomorphological findings between parathyroid and thyroid lesions. Case Presentation.

Ultrasound predictors of thyroid cancer.

Objective: To identify ultrasound (US) features associated with cancer in thyroid nodules.

Material And Method: During a two and a half-year period, medical charts, US images, and pathological findings in 629 consecutive patients with thyroid nodules who underwent US examination as well as fine needle aspiration biopsy (FNAB) or surgical excision or both were retrospectively reviewed. Clinical and US findings associated with thyroid cancer were identified using statistical models.

Coexisting vulvar Paget's disease and mucinous carcinoma of the breast: a case report and review of the literature.

Vulvar Paget 'disease is the most common site of extramammary Paget's disease (EMPD). The disease frequently associated with the underlying invasive skin adnexal carcinoma or representing the migration of underlying internal malignancy, especially anorectal and genitourinary cancer, but the coexisting with primary breast cancer is rare. Herein, the authors report a case of a 46-year-old Thai woman who had vulvar Paget's disease with subsequent development of mucinous carcinoma of the breast.

Adrenal histoplasmosis: a case series and review of the literature.

Adrenal histoplasmosis is an uncommon mycotic disease typically caused by Histoplasma capsulatum. The objective was to determine the clinicopathological findings in adrenal histoplasmosis. Pathological records were searched from the database at the Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University from 1993 to 2008 for cases of adrenal histoplasmosis.

Infection-associated hemophagocytic syndrome among patients with dengue shock syndrome and invasive aspergillosis: a case series and review of the literature.

The authors report four autopsy cases of previously healthy children with dengue shock syndrome complicated with infection-associated hemophagocytosis and invasive aspergillosis. Hemophagocytosis is confirmed by histopathology of autopsied reticuloendothelial organs. All four children were identified to have invasive aspergillosis by histopathology and three cases were positive on fungal culture for Aspergillus spp.

Fine needle aspiration of thyroid: a cyto-histopathological correlation in Ramathibodi Hospital.

Objective: To evaluate the accuracy of fine needle aspiration cytology (FNAC) of thyroid lesions in Ramathibodi patients.

Material And Method: A retrospective review is performed on 469 cases of thyroid surgical pathology specimens with previous FNAC reports; during January 2005 to January 2008. All histopathology reports are compared to the latest previous cytopathology results which are categorized as unsatisfactory, benign, inconclusive, borderline and malignancy

Results: The cytopathology results showed 74 cases (15.

Double check up of malignancy biopsy specimens for patient safety.

Background: The diagnostic of malignancy in biopsy specimens is very important because it guides to selected treatment option and prognostic prediction. However biopsy specimens usually have small pieces leading to variations of the interpretation by anatomical pathologists.

Objective: To detect and correct the errors or the significant discrepancies in the diagnosis of biopsy specimens before sign-out and to determine the frequency of anatomic pathology significant discrepancies.

Evaluation of an in-house immunoperoxidase staining assay for histodiagnosis of human pythiosis.

Pythiosis, a life-threatening infectious disease of humans and animals in tropical and subtropical countries, is caused by the fungus-like organism Pythium insidiosum. As diagnosis of pythiosis is difficult, delayed diagnosis of pythiosis leads to poor prognosis. We developed an immunoperoxidase staining assay using rabbit anti-P.

Pythium insidiosum keratitis in contact lens wear: a case report.

Purpose: The purpose of this study was to report a case of contact lens-related Pythium insidiosum corneal ulcer.

Methods: The authors conducted an interventional case report. We report the clinical presentations, histopathologic findings, and treatments of a patient with P.

Invasive fungal infection in Ramathibodi Hospital: a ten-year autopsy review.

Objective: Determine the clinicopathological findings in autopsy cases with invasive fungal infection.

Material And Method: The autopsy and medical records with invasive fungal infection in Ramathibodi Hospital between January 1997 and December 2006 were analyzed. The criterions for the diagnosis of invasive fungal infection were the evidence of fungal elements from histopathological section.

Hepatic fascioliasis due to Fasciola hepatica: a two-case report.

Two cases of hepatic fascioliasis due to Fasciola hepatica were retrieved from our surgical-pathology file since the hospital's foundation in 1969 up to 2005. The diagnosis of hepatic fascioliasis was based on detection of one live fluke in a large cystic lesion in the lobectomized liver specimen in one case and of deposited eggs in the large liver specimen obtained from open biopsy in the other Hepatic fascioliasis is rather rare and almost worldwide in distribution including Thailand. The diagnosis should be considered in the patient from endemic areas consisting of the northern, northeastern and upper-central regions of the country, with a history of ingesting fresh water plants or drinking untreated water and having fever right-upper-quadrant pain or intrahepatic cystic lesion(s) together with absolute peripheral blood eosinophilia.