Publications by authors named "Faquin W"
Purpose: MYB has been shown to play a central role in oncogenesis in a majority of adenoid cystic carcinomas (ACC). Testing for MYB expression via immunohistochemistry (IHC) or testing for the MYB gene fusion by next-generation sequencing (NGS) have become useful tools for the diagnosis of ACC. In addition, detection of MYB expression may have implications for patient management.
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- - Leprosy, or Hansen disease, is an airborne illness characterized by symptoms like skin lesions, nerve damage, and eye issues, caused by specific bacteria.
- - A patient with a history of tuberculoid leprosy developed severe tear duct issues four years after finishing treatment, leading to surgery to correct the blockage.
- - Post-surgery, analysis revealed ongoing inflammation linked to the earlier leprosy infection, but the patient has been symptom-free for six months after the procedure.
FUS::CREM fusion is a distinct primary driver in rare neoplasms of the head and neck and other anatomic sites. Herein, we describe the clinicopathological, imaging, and molecular features of a malignant epithelioid mesenchymal neoplasm harboring FUS::CREM fusion, arising in the tongue of a 46-year-old male. Clinically, the patient presented with a left upper neck mass.
View Article and Find Full Text PDFRAS p.Q61R is the most prevalent hot-spot mutation in RAS and RAS-like mutated thyroid nodules. A few studies evaluated RAS p.
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- The study focuses on diagnosing thyroid cancer using tissue examination and molecular data, highlighting the specific genetic mutations associated with different types of thyroid malignancies, particularly papillary thyroid carcinoma.
- Researchers conducted a retrospective review of over 5,000 thyroid malignancies and identified 17 tumors with significant genetic alterations, with a special emphasis on the role of a specific gene family in cancer development.
- The findings suggest the existence of primary genetic drivers and secondary mutations in thyroid cancers, which could contribute to tumor progression and treatment resistance, paving the way for potential targeted therapies.
Background: Differentiated high-grade thyroid carcinoma (DHGTC) is recently recognized by the World Health Organization (WHO) as a subgroup of thyroid carcinomas with high-grade features while retaining the architectural and/or cytologic features of well-differentiated follicular-cell-derived tumors. The cytomorphology of DHGTC is not well documented despite potential implications for patient triage and management.
Methods: The pathology archives of six institutions were searched for cases diagnosed on resection as "high-grade thyroid carcinoma" using WHO criteria.
Article Synopsis
- Primary meningiomas in the head and neck region are rare, and fine needle aspiration (FNA) can complicate their diagnosis due to their uncommon presentation.* -
- A case involving a 26-year-old woman revealed a large neck mass that, upon FNA, displayed characteristic cellular features leading to a diagnosis of meningioma with rhabdoid characteristics and loss of the protein BAP1.* -
- The study underscores the challenges FNA poses for diagnosing extracranial meningiomas and emphasizes the need for additional diagnostic techniques to prevent misdiagnosis.*
Article Synopsis
- DICER1 mutations and PTEN alterations are linked to thyroid diseases and cancers and were analyzed in a study involving 117 thyroid fine-needle aspirates (FNAs) from two medical institutions.
- The study found that 30.8% had DICER1 mutations (mostly younger females) and 69.2% had PTEN alterations (older females), with both groups showing signs of multinodular disease.
- Although both DICER1 and PTEN groups exhibited overlapping cytologic features, minor differences were noted, such as more papillary patterns in DICER1 and oncocytic changes in PTEN, enhancing awareness for identifying patients at risk for thyroid cancer.
Article Synopsis
- - The objective of the study was to analyze clear cell sarcoma (CCS) in relation to two other rare tumors: clear cell odontogenic carcinoma (CCOC) and clear cell carcinoma of the salivary gland (CCC) to find similarities among them.
- - The research involved reviewing existing literature, collecting data on the characteristics, symptoms, imaging results, and genetic features of these tumors through PubMed.
- - Findings indicated that CCS shares histological similarities and genetic profiles with CCOC and CCC, with all three tumors showing a tendency to occur in soft tissue and bones, primarily affecting women and typically presenting at different ages.
Article Synopsis
- Anaplastic thyroid carcinoma is one of the deadliest cancers and frequently occurs alongside differentiated thyroid cancers, but its aggressive nature is not well understood.
- Researchers analyzed tumor DNA from 329 regions of thyroid cancer, revealing that anaplastic thyroid carcinomas have more mutations and unique mutational patterns compared to other thyroid cancers.
- The study shows that although anaplastic and differentiated thyroid carcinomas can occur in the same patient, they have different mutated genes and share a common genetic origin that allows them to develop from a similar malignant environment.
Article Synopsis
- - Cytological specimens are crucial for diagnosing head and neck nodules, especially with the rise of personalized medicine and the use of molecular markers in diagnostics.
- - The Updates in Head and Neck Cytopathology Short Course at the 35th European Congress of Pathology in Dublin, 2023, featured experts discussing advancements in cytopathology.
- - Key topics covered included the Milan System for Salivary Gland Cytopathology, one-stop clinics, next-generation sequencing, and HPV detection in head and neck cases.
Mutations in , a gene involved in RNA interference, have been associated with a wide range of multi-organ neoplastic and non-neoplastic conditions. Historically known for its association with pleuropulmonary blastoma, DICER1 syndrome has received more attention due to the association with newly discovered diseases and tumors. Recent studies evaluating mutations and DICER1-driven thyroid disease in both pediatric and adult thyroid nodules revealed thyroid disease as the most common manifestation of mutations.
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- * Evidence shows that oncocytic thyroid carcinoma has distinct genetic changes compared to other thyroid cancers, displaying higher rates of somatic gene variants and unique mitochondrial DNA variations.
- * The cancer presents a greater likelihood of lymph node metastases and distant metastases than follicular and papillary thyroid carcinomas, and it has a lower tendency to absorb radioiodine for treatment.