Topics

Head and Neck Mesenchymal Neoplasms With GLI1 Gene Alterations: A Pathologic Entity With Distinct Histologic Features and Potential for Distant Metastasis.

07:00 EST 13th January 2020 | BioPortfolio

Summary of "Head and Neck Mesenchymal Neoplasms With GLI1 Gene Alterations: A Pathologic Entity With Distinct Histologic Features and Potential for Distant Metastasis."

Soft tissue tumors with GLI1 gene fusions or amplifications have been recently described as a unique pathologic entity with an established risk of malignancy. We herein expand these findings by investigating a cohort of 11 head and neck lesions with GLI1 alterations, including 8 from the tongue, for their clinicopathologic and molecular features. The tumors commonly affected males in their 30s (male:female ratio 2.7:1; range: 1 to 65). Tumors showed a multinodular growth pattern, nested architecture separated by a delicate, arborizing vascular network, monotonous round to ovoid nuclei, and clear cytoplasm. Tumor protrusion into vascular spaces was common. Genetic alterations were investigated by fluorescence in situ hybridization and/or targeted RNA sequencing. Seven tumors harbored GLI1 fusions with the following partners: ACTB (n=4), PTCH1 (n=2), or MALAT1 (n=1). The remaining 4 cases showed coamplifications of GLI1 with CDK4 and MDM2 genes. Tumors were commonly positive for S100 protein and CD56. CDK4, MDM2, and STAT6 were positive in GLI1-amplified tumors. Two of 6 patients with available follow-up (1 each with GLI1 amplification and PTCH1-GLI1 fusion) developed distant metastases. Both tumors showed a high mitotic index and tumor necrosis. The head and neck region, particularly tongue, is a common location for GLI1-related mesenchymal tumors. Although a morphologic overlap was noted with the previously reported "pericytoma with t(7,12) translocation," often occurring in the tongue, our findings expand the original findings, to include a more variable immunophenotype, propensity for late distant metastases, and alternative mechanisms of GLI1 oncogenic activation, such as various GLI1 fusion partners or GLI1 coamplifications with MDM2 and CDK4 genes.

Affiliation

Journal Details

This article was published in the following journal.

Name: The American journal of surgical pathology
ISSN: 1532-0979
Pages:

Links

DeepDyve research library

PubMed Articles [13697 Associated PubMed Articles listed on BioPortfolio]

Diagnostic traps awaiting the head/neck pathologist: "Cytoplasm-poor" neoplasms.

Beyond squamous carcinoma, a variety of diagnostically challenging neoplasms arise within various head and neck sites. This is particularly the situation with neoplasms where little cellular cytoplasm...

Nontraumatic Head and Neck Emergencies.

Head and neck imaging is an intimidating subject for many radiologists because of the complex anatomy and potentially serious consequences of delayed or improper diagnosis of the diverse abnormalities...

Identification of new hypoxia-regulated epithelial-mesenchymal transition marker genes labeled by H3K4 acetylation.

Hypoxia-induced epithelial-mesenchymal transition (EMT) involves the interplay between chromatin modifiers histone deacetylase 3 (HDAC3) and WDR5. The histone mark acetylation of histone 3 lysine 4 (H...

Impact of Neck Disability on Health-Related Quality of Life among Head and Neck Cancer Survivors.

Although neck impairment has been described following surgical resection, limited studies have investigated its prevalence in nonsurgical treatment. The purpose of this study is to determine the preva...

Distance Traveled to Head and Neck Cancer Provider: A Measure of Socioeconomic Status and Access.

Improved head and neck cancer survival has been associated with traveling farther distances for treatment, potentially due to patients seeking higher-quality facilities. This study investigates the ro...

Clinical Trials [8601 Associated Clinical Trials listed on BioPortfolio]

Gene Therapy in Treating Patients With Recurrent Head and Neck Cancer

RATIONALE: Inserting the gene for p53 into a person's tumor may improve the body's ability to fight cancer or make the cancer more sensitive to chemotherapy. PURPOSE: Phase II trial to st...

Gene Therapy in Treating Patients With Advanced Head and Neck Cancer

RATIONALE: Gene therapy may kill cancer cells by inhibiting a gene that promotes the development and growth of cancer. PURPOSE: Phase I trial to study the effectiveness of gene therapy in...

Interleukin-2 Gene or Methotrexate in Treating Patients With Recurrent or Refractory Stage III or Stage IV Head and Neck Cancer

RATIONALE: Inserting the gene for interleukin-2 into head and neck cancer cells may make the body build an immune response to kill the tumor cells. Drugs used in chemotherapy use different...

Resistance Exercise Training for the Shoulder and Neck Following Surgery for Head and Neck Cancer

The purpose of this study is to investigate the effect of a progressive therapeutic exercise program on specific physical and functional deficits in the neck and shoulder region occurring ...

Gene Therapy in Treating Patients With Unresectable, Recurrent, or Refractory Head and Neck Cancer

RATIONALE: Inserting the gene for interleukin-12 into a person's cancer cells may make the body build an immune response to kill more tumor cells. PURPOSE: Phase I/II trial to study the e...

Medical and Biotech [MESH] Definitions

Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)

Dissection in the neck to remove all disease tissues including cervical LYMPH NODES and to leave an adequate margin of normal tissue. This type of surgery is usually used in tumors or cervical metastases in the head and neck. The prototype of neck dissection is the radical neck dissection described by Crile in 1906.

A nuclear protein and tumor suppressor that contains a C-terminal PHD ZINC FINGER. It is expressed in different isoforms in various tissues and interacts with TUMOR SUPPRESSOR PROTEIN P53 to negatively regulate cell growth. Reduced expression and chromosomal rearrangements of the ING1 gene are associated with different cancers including HEAD AND NECK NEOPLASMS.

Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)

A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors.

Quick Search


DeepDyve research library

Relevant Topics

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Vascular
Vascular relates to blood vessels (Oxford Medical Dictionary) and can be used to describe the supply of blood, a disease affecting the blood vessels or molecules associated with these structures. For example, <!--LGfEGNT2Lhm-->atherosclerosis ...

Blood
Blood is a specialized bodily fluid that delivers necessary substances to the body's cells (in animals) – such as nutrients and oxygen – and transports waste products away from those same cells.  In vertebrates, it is composed of blo...


Searches Linking to this Article