Desmoid fibromatosis in a child with DICER1-related tumor predisposition.

DICER1-related tumor predisposition is an inherited disorder, generally pediatric in onset, featuring a characteristic array of mainly mesenchymal tumors. We report a chest wall desmoid fibromatosis, occurring in a child who uniquely carries a germline "hotspot" DICER1 variant that likely leads to impaired miRNA biogenesis in all cells. This lesion contained a hotspot CTNNB1 c.

Differential Expression of Proteins and Genes at the Tumor-Brain Interface in Invasive Meningioma.

Most meningiomas are dural-based extra-axial tumors in close contact with the brain. Expression of genes and proteins at the tumor-brain interface in brain-invasive meningioma is basically unknown. Using the NanoString pan-cancer panel, differential expression of genes in the invasive edge versus main tumor body was determined in 12 invasive meningiomas (comprising the discovery cohort), and 6 candidate genes: DTX1, RASGRF1, GRIN1, TNR, IL6, and NR4A1, were identified.

Estrogen Receptor Expression in DICER1-related Lesions is Associated With the Presence of Cystic Components.

DICER1 tumor predisposition syndrome results from pathogenic variants in DICER1 and is associated with a variety of benign and malignant lesions, typically involving kidney, lung, and female reproductive system. Over 70% of sarcomas in DICER1 tumor predisposition syndrome occur in females. Notably, pediatric cystic nephroma (pCN), a classic DICER1 tumor predisposition syndrome lesion, shows estrogen receptor (ER) expression in stromal cells.

Fine needle aspiration of spindle cell lipoma-Lochkern cells as a clue for diagnosis: A case arising in the parotid gland.

Spindle cell lipoma (SCL) is a rare form of lipoma, typically occurring as a mass in the back, shoulder or posterior neck of adult males. Most cases present little diagnostic difficulty on fine needle aspiration (FNA), but can be problematic when the SCL is in an unusual location. The authors report a case in the parotid gland in a 75-year-old man.

Acantholytic squamous cell carcinoma mimicking epithelioid angiosarcoma: A diagnostic challenge by cytology.

Squamous cell carcinoma (SCC) is the most common malignancy of the head and neck region. Most cases present little diagnostic difficulty on fine needle aspiration (FNA), but unusual variants can be problematic. The authors report a case of the acantholytic SCC of the oral cavity in a 36-year-old male.

Glioblastoma with novel EGFR mutations (T790M and exon 20 insertion) yet unresponsive to osimertinib: A case report.

Glioblastoma (GBM) is a high-grade adult-type IDH-wildtype diffuse glioma, commonly harboring epidermal growth factor receptor (EGFR) amplification. Here, we describe a case of a 49-year-old man with a GBM harboring a TERT promoter mutation. Despite surgical and chemoradiation therapy, the tumor recurred.

Placenta-Derived Extracellular Vesicles in Pregnancy Complications and Prospects on a Liquid Biopsy for Hemoglobin Bart's Disease.

Extracellular vesicles (EVs) are nano-scaled vesicles released from all cell types into extracellular fluids and specifically contain signature molecules of the original cells and tissues, including the placenta. Placenta-derived EVs can be detected in maternal circulation at as early as six weeks of gestation, and their release can be triggered by the oxygen level and glucose concentration. Placental-associated complications such as preeclampsia, fetal growth restriction, and gestational diabetes have alterations in placenta-derived EVs in maternal plasma, and this can be used as a liquid biopsy for the diagnosis, prediction, and monitoring of such pregnancy complications.

Multisystem inflammatory syndrome in children (MIS-C) showing disseminated aspergillosis, cytomegalovirus reactivation and persistent SARS-COV-2: Case report with autopsy review.

Multisystem inflammatory syndrome in children (MIS-C) is an emerging phenomenon associated with SARS-COV-2 infection (COVID-19) occurring in < 1 % of infected children. MIS-C is characterized by a hyperinflammatory state with excessive cytokine release ('storm') leading to hemodynamic compromise and multiorgan failure, with a death rate of ∼2 %. Autopsy examination can play a particularly important role in helping to understand the pathogenesis of MIS-C.

Pediatric fibromyxoid tumor with PLAG1 fusion: An emerging entity with a novel intracranial location.

Translocations involving PLAG1 occur in several tumors, most commonly pleomorphic adenoma and lipoblastoma. Recently, a distinctive soft tissue tumor with a PLAG1 fusion has been reported in the pediatric age group. These are low grade tumors with a fibroblastic or mixed fibroblastic and myxoid morphology but no other lines of differentiation.

Simplified approach for pathological diagnosis of diffuse gliomas in adult patients.

The most recent WHO classification (2016) for gliomas introduced integrated diagnoses requiring both phenotypic and genotypic data. This approach presents difficulties for countries with limited resources for laboratory testing. The present study describes a series of 118 adult Thai patients with diffuse gliomas, classified by the WHO 2016 classification.

Massive Perivillous Fibrin Deposition Associated With Placental Syphilis: A Case Report.

Massive perivillous fibrin deposition (MPFD) and the related entity of maternal floor infarction (MFI) are uncommon placental disorders of unknown etiology, associated with adverse obstetric outcome and a significant risk of recurrence. We describe a 19-year-old mother with untreated syphilis who delivered a male neonate with low birth weight, skin desquamation, and pneumonia. Placenta examination showed the expected changes for syphilis but unexpectedly, also showed MPFD.

Placental Findings Contributing to Perinatal Death: A 15-Year Retrospective Review from a Teaching Hospital in Thailand.

The placenta is infrequently examined in developing countries. This study examined the role of placental pathology in perinatal deaths at Chulalongkorn University Hospital, Bangkok. Included were singleton intrauterine deaths after gestational week 20 and live-born infants up to 1 week old, over a 15-year period.

Fusion of ALK to the melanophilin gene MLPH in pediatric Spitz nevi.

Spitzoid neoplasms typically affect young individuals and include Spitz nevus, atypical Spitz tumor, and Spitzoid melanoma. Spitz tumors can exhibit gene fusions involving the receptor tyrosine kinases NTRK1, NTRK3, ALK, ROS1, RET, or MET, or the serine-threonine kinase BRAF. Because most studies have been based on adult cases, we studied ALK fusions in Spitz nevi occurring in pediatric patients.

Paediatric oral pathology in Thailand: a 15-year retrospective review from a medical teaching hospital.

Objectives: To determine whether the spectrum of oral pathology in children seen at a medical institution differs from studies derived from dental facilities.

Methods: Oral biopsy records from paediatric patients (<16 years of age) were retrieved from the pathology archives at Chulalongkorn University Hospital over a period of 15 years. Lesions were categorised as inflammatory/reactive, tumour/tumour-like or cystic.

Pulmonary Neuroendocrine Cell Hyperplasia in Hemoglobin Bart-induced Hydrops Fetalis: A model for Chronic Intrauterine Hypoxia.

The pulmonary neuroendocrine system includes pulmonary neuroendocrine cells (PNECs) and neuroepithelial bodies (NEBs) that are distributed throughout respiratory epithelium and regulate lung growth and maturation antenatally. Abnormalities in this system have been linked to many hypoxia-associated pediatric pulmonary disorders. Hemoglobin (Hb) Bart disease is a severe form of α-thalassemia resulting in marked intrauterine hypoxia with hydrops fetalis (HF) and usually death in utero.

BRAF V600E mutation in pediatric intracranial and cranial juvenile xanthogranuloma.

Juvenile xanthogranuloma (JXG) is a cutaneous form of non-Langerhans cell histiocytosis, primarily affecting children. The lesion is presumed to originate from either macrophages or dermal dendritic cells. JXG can rarely present as an isolated intracranial lesion and, in contrast to the dismal outcome of patients with systemic disease, cranial JXG has been shown to carry a more favorable prognosis.

Dogs that develop rabies post-vaccination usually manifest the paralytic subtype.

Rabies infection can manifest as either encephalitic (furious) or paralytic (dumb) types, with a ratio of approximately 2:1 in dogs. The clinical type of rabies that develops post-vaccination has only been reported in studies from one country, all with similar findings. We report a study of 36 rabid dogs with obtainable vaccination history, presenting to The Queen Saovabha Memorial Institute, Bangkok, Thailand during 2002-2008.

Hemoglobin Bart hydrops fetalis: A model for studying vascular changes in placental hypoxia.

Introduction: Placental ischemia can be pre-placental (maternal), placental or post-placental (fetal), with corresponding changes in villous vasculature. Hydrops fetalis (HF) resulting from hemoglobin (Hb) Bart disease can serve as a model for intrauterine hypoxia, and placentas from such cases show a distinctive peripheral villous stromal myofibroblastic hypercellularity (PVSH). We hypothesized that Hb Bart disease, which results in profound fetal hypoxia, would lead to placental hypoxia on a post-placental basis.

TFE3-positive renal cell carcinomas are not always Xp11 translocation carcinomas: Report of a case with a TPM3-ALK translocation.

Translocation-associated renal cell carcinoma (RCC) is a distinct subtype of RCC with gene rearrangements of the TFE3 or TFEB loci. The TFE3 gene is located at Xp11 and can fuse to a number of translocation partners, resulting in high nuclear expression of TFE3 protein. TFE3 immunostaining is often used as a surrogate marker for a TFE3 translocation.

Intracellular Spread of Rabies Virus Is Reduced in the Paralytic Form of Canine Rabies Compared to the Furious Form.

Studies of the furious and paralytic forms of canine rabies at the early stage of disease have shown a more rapid viral colonization of the cerebral hemispheres in the furious form, as measured by viral antigen within neuronal cell bodies and viral RNA levels. Measurement of cellular processes separate from neuronal cell body provides a visual record of the spread of rabies virus which occurs across synapses. In this study, the amount of rabies viral antigen within cell processes was quantitatively assessed by image analysis in a cohort of naturally rabies infected non-vaccinated dogs (5 furious and 5 paralytic) that were sacrificed shortly after developing illness.

Maternal Floor Infarction/Massive Perivillous Fibrin Deposition Associated with Hypercoiling of a Single-Artery Umbilical Cord: A Case Report.

Maternal floor infarction is a rare and idiopathic placental disorder associated with adverse obstetric outcomes and a high rate of recurrence in subsequent pregnancies. The pathogenesis of maternal floor infarction is unclear but has been linked to diverse underlying maternal conditions, including gestational hypertension/preeclampsia, immune-mediated diseases, and thrombophilia. Few reports link maternal floor infarction to fetoplacental conditions.

Thyroid Paraganglioma: "Naked" Nuclei as a Clue to Diagnosis on Imprint Cytology.

A cytologic diagnosis of paraganglioma of the thyroid is difficult to make because the thyroid gland is an unusual location for such a tumor and the cytologic findings overlap with other benign and malignant thyroid tumors. We report the case of a 28-year-old female presenting with a solitary mass of the right thyroid gland. A diagnosis of paraganglioma was made on the resected specimen.