SplitFusion enables ultrasensitive gene fusion detection and reveals fusion variant-associated tumor heterogeneity.

Gene fusions are common cancer drivers and therapeutic targets, but clinical-grade open-source bioinformatic tools are lacking. Here, we introduce a fusion detection method named SplitFusion, which is fast by leveraging Burrows-Wheeler Aligner-maximal exact match (BWA-MEM) split alignments, can detect cryptic splice-site fusions (e.g.

The fifth edition of the WHO classification of mature T cell, NK cell and stroma-derived neoplasms.

The fifth edition of the WHO Classification of Haematolymphoid Tumors (WHO-HAEM5) introduces significant advancements in the understanding and diagnosis of mature T cell and NK cell, and stroma-derived neoplasms, and incorporates molecular and genetic data/findings accrued over the past years. The classification has been reorganised using a hierarchical system, employed across the fifth edition of the WHO classification of tumours of all organ systems. This review highlights recent developments, evolving concepts, and key updates since the revised fourth edition (WHO-HAEM4R).

Targeting TUBB2B inhibits triple-negative breast cancer growth and brain-metastatic colonization.

Background: The triple-negative subtype of breast cancer is particularly challenging to treat due to its aggressiveness with a high risk of brain metastasis, and the lack of effective targeted therapies. Tubulin beta 2B class IIb (TUBB2B), a β-tubulin isoform regulating axon guidance during embryonic development, was found to be overexpressed in various types of cancers including triple-negative breast cancer (TNBC). However, its functional roles in breast cancer or metastasis remain unclear.

Advances in understanding and management of IgG4-related ophthalmic disease.

Immunoglobulin G4-related ophthalmic disease (IgG4-ROD) is an emerging, immune-mediated fibroinflammatory orbital disease, characterized by tumefactive lesions with noticeable IgG4+ plasma cell infiltration and distinctive pathohistological features. This disease is often associated with elevated serum IgG4 concentrations. IgG4-ROD may affect any ophthalmic tissues, particularly the lacrimal gland, extraocular muscles, and trigeminal nerves.

Demystifying the challenging diagnosis of post-radiation nasopharyngeal necrosis on multimodality imaging.

Post-radiation nasopharyngeal necrosis (PRNN) is a rare but life-threatening condition that often poses a diagnostic challenge in imaging studies owing to its overlapping features with recurrent nasopharyngeal tumours. We herein describe the characteristic imaging appearance of PRNN on post-contrast T1-weighted magnetic resonance imaging, diffusion-weighted imaging (DWI) and fluorodeoxyglucose (FDG)-PET/CT which may provide insights into its pathological findings.

IgG4-related lymphadenopathy.

IgG4-related lymphadenopathy is a nodal manifestation of IgG4-related disease (IgG4RD) which is characterized by increased polytypic IgG4+ plasma cells and IgG4+/IgG+ plasma cell ratio in lymph nodes and morphologically manifested as various patterns of reactive lymphadenopathy: Castleman disease-like, follicular hyperplasia, interfollicular expansion, progressive transformation of germinal centers and inflammatory pseudotumor-like. It typically presents with solitary or multiple, mild to moderate lymph node enlargement in otherwise asymptomatic patients. The serum IgG4 level is frequently elevated but C-reactive protein often remains normal.

Systemic Involvement in Immunoglobulin G4-Related Ophthalmic Disease.

Background: Immunoglobulin G4-related ophthalmic disease (IgG4-ROD) poses clinical challenges due to its heterogeneous ocular and systemic manifestations. We aim to report the systemic involvement and the clinical, serological and radiological associations of a cohort of Chinese patients.

Methods: A territory-wide, biopsy-proven, Chinese cohort.

Comparison of Clinical Outcomes, Pathologic Characteristics, and Immune-Related Features of Postradiation vs Sporadic Oral Cavity Squamous Cell Carcinoma.

Importance: Postradiation oral cavity squamous cell carcinoma (OCSCC) is a common secondary malignant neoplasm affecting survivors of head and neck cancer who underwent radiotherapy. The clinical, pathologic, and immune-related features of postradiation OCSCC are poorly characterized, and treatment options are limited because of surgical difficulty and high morbidity associated with reirradiation.

Objective: To determine whether postradiation OCSCC has distinctive clinical, pathologic, and immune-related features compared with demographic-matched sporadic OCSCC.

EBV-negative Fibrin-Associated Large B-Cell Lymphoma Arising in Thyroid Hyperplastic Nodule: Report of a Case and Literature Review.

Fibrin-associated large B-cell lymphoma is a rare microscopic-sized tumor, typically representing an unexpected finding at sites rich in chronic fibrin deposition. It is associated with Epstein-Barr virus, and has been reported to occur in a wide variety of anatomic sites and clinical scenarios. We report a case arising in a thyroid hyperplastic nodule, only the second case reported in this location.

Adenofibromatous Solitary Fibrous Tumor: An Unusual Morphologic Variant Occurring in the Sinonasal Tract.

Background: Solitary fibrous tumor can exhibit a broad morphologic spectrum, such as presence of epithelioid tumor cells, adipose cells and multinucleated giant cells. This report describes an unusual morphologic variant characterized by adenofibromatous features, all occurring in the sinonasal region.

Methods: Four cases of the adenofibromatous variant of solitary fibrous tumor were retrieved from the surgical pathology and consultation files in Queen Elizabeth Hospital, Hong Kong.

Bilateral synchronous conjunctival myxoma and review of the literature.

Purpose: The purpose of this study was to report the clinicopathological features and management of the first case of bilateral synchronous conjunctival myxoma.

Methods: This study was a case report and literature review.

Results: A 66-year-old Chinese male with past ocular history of uncomplicated bilateral phacoemulsification and intraocular lens (IOLs) 3 years ago prior to presentation presented with bilateral red and swollen conjunctiva for over a year.

Brucein D augments the chemosensitivity of gemcitabine in pancreatic cancer via inhibiting the Nrf2 pathway.

Background: Gemcitabine (GEM) is the first-line chemotherapeutic drug used to treat pancreatic ductal adenocarcinoma carcinoma (PDAC), but chemoresistance is often encountered clinically. Nrf2, an oxidative stress responsive transcription factor, is an important contributor to chemoresistance and poor prognosis of PDAC. Brucein D (BD), a naturally occurring quassinoid, has been reported to exert anti-tumor effect in several cancers including PDAC.

Spindle cell/sclerosing rhabdomyosarcoma with DCTN1::ALK fusion: broadening the molecular spectrum with potential therapeutic implications.

Spindle cell/sclerosing rbabdomyosarcoma (RMS) is a recently characterized variant of RMS with several distinct molecular subtypes. We describe an example occurring in the tongue of a 10-year-old boy with a novel DCTN1::ALK fusion. The tumor exhibited infiltrative growth and was comprised of fascicles and focally whorls of spindle cells with eosinophilic cytoplasm, in a collagenous or myxoid stroma.

Expanding the clinicopathological spectrum of succinate dehydrogenase-deficient renal cell carcinoma with a focus on variant morphologies: a study of 62 new tumors in 59 patients.

Most succinate dehydrogenase (SDH)-deficient renal cell carcinomas (RCCs) demonstrate stereotypical morphology characterized by bland eosinophilic cells with frequent intracytoplasmic inclusions. However, variant morphologic features have been increasingly recognized. We therefore sought to investigate the incidence and characteristics of SDH-deficient RCC with variant morphologies.

TCOF1 upregulation in triple-negative breast cancer promotes stemness and tumour growth and correlates with poor prognosis.

Background: Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer with poor prognosis. By performing multiomic profiling, we recently uncovered super-enhancer heterogeneity between breast cancer subtypes. Our data also revealed TCOF1 as a putative TNBC-specific super-enhancer-regulated gene.

Defining super-enhancer landscape in triple-negative breast cancer by multiomic profiling.

Breast cancer is a heterogeneous disease, affecting over 3.5 million women worldwide, yet the functional role of cis-regulatory elements including super-enhancers in different breast cancer subtypes remains poorly characterized. Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer with a poor prognosis.

New Clinicopathologic Scenarios of EBV+ Inflammatory Follicular Dendritic Cell Sarcoma: Report of 9 Extrahepatosplenic Cases.

EBV+ inflammatory follicular dendritic cell (FDC) sarcoma is an indolent malignant neoplasm of spindled FDCs with a rich lymphoplasmacytic infiltrate and a consistent association with Epstein-Barr virus (EBV). It occurs exclusively in the liver and spleen, with the exception of a few colonic examples. In this study, we report 9 extrahepatosplenic cases, including 4 occurring in previously undescribed sites, but all apparently anatomically related to the aerodigestive tract.

Genomic characterization reveals potential biomarkers in nasopharyngeal carcinoma patients with relapse.

Background: Although the majority of nasopharyngeal carcinoma (NPC) patients demonstrate favorable outcomes after radiotherapy and/or chemotherapy, about 8-10% of patients will develop recurrent disease, and genomic alterations (GAs) associated with the recurrence are unclear.

Methods: This study investigated the GAs in the paired primary tumors and recurrent tumors of 7 NPC patients with relapse, as well as the primary tumors of 15 NPC patients without relapse by deep targeted next-generation sequencing on 440 cancer-related genes.

Results: and mutations were significantly enriched in patients with relapse ( = 0.

Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa.

Ocular perivascular epithelioid cell tumor (PEComa) is exceedingly rare. We reported two examples involving the choroid and subconjunctival tissue, respectively, in patients aged 17 and 20 years. Both tumors comprised packets and sheets of large polygonal cells with moderately pleomorphic nuclei and prominent nucleoli, traversed by delicate fibrovascular septa.

ADAM9 Mediates Triple-Negative Breast Cancer Progression via AKT/NF-κB Pathway.

Upregulation of a disintegrin and metalloprotease 9 (ADAM9) is correlated with progression of cancers, such as prostate, bladder, and pancreatic cancers. However, its role in triple-negative breast cancer (TNBC) is still unclear. Our study aimed to investigate whether ADAM9 is upregulated and promoted the aggressiveness in TNBC.

Posterior Oropharyngeal Saliva for the Detection of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2).

Background: The coronavirus disease 2019 (COVID-19) pandemic has put tremendous pressure on the healthcare system worldwide. Diagnostic testing remained one of the limiting factors for early identification and isolation of infected patients. This study aimed to evaluate posterior oropharyngeal saliva (POPS) for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) detection among patients with confirmed or suspected COVID-19.