Publications by authors named "Ilmo Leivo"

Canalicular tumors of the salivary glands have recently emerged as an entity characterized by distinct morphology and recurrent HMGA2 gene rearrangement. In this study, we analyzed 40 cases intending to elucidate their features further. The monophasic or biphasic tumors exhibited a growth pattern of interconnected anastomosing trabeculae and canaliculi, accompanied by a classical pleomorphic adenoma in one-third of the cases.

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The pathology of reactive, dysplastic, and neoplastic sinonasal seromucinous glands is complex, and their contribution to tumorigenesis of sinonasal carcinomas remains controversial. In our practice, we have observed the presence of respiratory epithelial adenomatoid hamartomas (REAH) and seromucinous hamartomas (SH) associated with adenoid cystic carcinomas (AdCC) in a subset of cases. In many of these cases, genuine atypical features and dysplastic characteristics of the glands were noted at the interface of SH and AdCC.

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Background: Current guidelines recommend p16 immunohistochemistry (IHC) for testing human papillomavirus (HPV) in oropharyngeal squamous cell carcinoma (OPSCC). The need for additional HPV-DNA testing is debated.

Aims/objectives: We evaluated the prognostic value of HPV-DNA hybridization (ISH) as an adjunct to p16.

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Article Synopsis
  • Adenoid cystic carcinomas (AdCC) of salivary gland origin are primarily defined by the presence of specific gene fusions, notably MYB::NFIB and MYBL1::NFIB, with sinonasal AdCC being particularly aggressive and lacking effective treatments.
  • Researchers conducted an extensive analysis of 88 sinonasal AdCC cases using various techniques like NGS and FISH to identify gene fusions and mutations, finding that the majority harbored canonical fusions while some had noncanonical ones, with a few tumors showing no fusions at all.
  • Mutational analysis revealed that about 68% of AdCCs tested (21 out of 31) had mutations in key oncogenes, highlighting potential areas for targeted
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Introduction: Laryngeal chondrosarcoma (CS) is a rare indolent malignant tumor. High-grade (G3), dedifferentiated (DD), and myxoid (MY) CSs are considered more aggressive subtypes due to their metastatic potential and relatively poor outcomes. The aim of this systematic review is to evaluate treatment modalities and survival outcomes in patients affected by these rarer CS subtypes.

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Article Synopsis
  • The study addresses the need for better survival predictions for patients with Oral Squamous Cell Carcinoma (OSCC) by utilizing collaborative machine learning (cML) methods.
  • Five machine learning models were tested on a dataset of 9,439 OSCC patients, showing varying accuracy levels, with the voting ensemble model being the most accurate at 70.2%.
  • Key prognostic factors impacting overall survival included age, tumor stage, surgery, and treatment modalities, suggesting that cML could improve personalized treatment strategies for OSCC patients.
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Background: Tertiary lymphoid structures (TLSs) associate with prognosis of many malignancies. However, the clinical significance of TLSs is not well-elucidated in nasopharyngeal carcinoma (NPC) patients.

Material And Methods: In this whole population-based multicenter study, a total of 115 patients treated for NPC were included.

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Article Synopsis
  • The study reviews previous meta-analyses on histopathologic markers for predicting survival in patients with oral squamous cell carcinoma (OSCC), focusing on markers identified through routine HE staining.
  • An analysis of 16 published meta-analyses showed that depth of invasion and tumor thickness were the most significant indicators for lymph node metastasis.
  • The conclusion emphasizes the need to incorporate emerging prognostic markers like worst pattern of invasion and tumor-stroma ratio into regular pathology practices for better risk assessment of OSCC.
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Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide and is a cause of significant mortality and morbidity. The epidemiology of this cancer varies worldwide due to either genetic differences in populations or differences in carcinogen exposure. The application of massive parallel sequencing-based techniques in HNSCC should provide a helpful understanding of the genetic alterations that eventually lead to HNSCC development and progression, and ideally, could be used for personalized therapy.

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Sclerosing mucoepidermoid carcinoma (SMEC) of the salivary glands is a rare variant of low-grade mucoepidermoid carcinoma with scanty cellular atypia characterized by marked fibrosis/sclerosis and a rich inflammatory infiltrate. Herein, we report 25 unpublished cases of SMEC, two of them with prominent eosinophilia (2/25; 8%) and three with abundant IgG4-positive plasma cells (3/25; 12%). In our series of salivary SMEC, molecular analysis using fluorescence in situ hybridization (FISH) and/or next-generation sequencing (NGS) provided evidence of MAML2 gene rearrangement in 18 cases of the 21 analyzable cases tested (86%), while this gene locus was intact in 3 cases (14%).

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Background: There is lack of knowledge on the utility of prognostic histopathologic characteristics in adenoid cystic carcinoma (ACC) of the head and neck. We evaluated the prognostic value of tumor and stroma-related histopathologic features in ACC.

Materials And Methods: A total of 65 cases of ACC from minor and major salivary glands were included in this study.

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  • xCT (SLC7A11) is a protein involved in cell death regulation and antioxidant defense, and this study examined its impact on patients with head and neck squamous cell carcinoma (HNSCC).
  • A total of 1,033 patients diagnosed between 2005-2015 were analyzed, with 585 having tumor samples for detailed immunohistochemical study, showing high follow-up rates.
  • High levels of xCT expression significantly correlated with poorer 5-year survival rates in oropharyngeal squamous cell carcinoma (OPSCC) patients, indicating its potential as an important prognostic factor, especially for those receiving radiotherapy.
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Background: Evaluation of the prognostic impact of tumor microenvironment (TME) has received attention in recent years. We introduce a TME-based risk stratification for oropharyngeal squamous cell carcinoma (OPSCC).

Material And Methods: A total of 182 patients treated for OPSCC at the Helsinki University Hospital were included.

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  • Carcinoma ex pleomorphic adenoma (CXPA) is a type of aggressive tumor connected to pleomorphic adenomas, and its development is linked to various genetic and epigenetic changes.
  • A study reviewed 84 cases of CXPA, uncovering several types of carcinoma, with notable findings from next-generation sequencing and fluorescence in situ hybridization revealing genetic fusions and alterations.
  • The research highlighted that CXPA with myoepithelial characteristics often showed chromosomal fusion events, while those with epithelial traits had more pathogenic mutations and gene amplifications.
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Article Synopsis
  • Adenoid cystic carcinoma (AdCC) is a prevalent type of cancer affecting salivary glands, usually characterized by specific gene fusions like MYB::NFIB.
  • In a study of 95 AdCC cases, researchers identified both canonical fusions (like MYB::NFIB) and novel noncanonical fusions (such as EWSR1::MYB and others), highlighting the complexity of the disease.
  • The findings emphasize the importance of molecular profiling in unveiling new genetic alterations in AdCC, which could improve our understanding of this tumor type.
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Background: Radiomics is a rapidly growing field used to leverage medical radiological images by extracting quantitative features. These are supposed to characterize a patient's phenotype, and when combined with artificial intelligence techniques, to improve the accuracy of diagnostic models and clinical outcome prediction.

Objectives: This review aims at examining the application areas of artificial intelligence-based radiomics (AI-based radiomics) for the management of head and neck cancer (HNC).

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  • * Whole-genome sequencing of cancer samples revealed a higher mutation burden in wood dust-exposed individuals, particularly in ITAC cases, with ROS damage signatures and specific genetic variations noted.
  • * The study highlights different mutational patterns between ITAC and non-ITAC, suggesting the potential for using these patterns to document occupational cancer risks, although the mechanisms of wood dust-related tumorigenesis remain unclear.
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Primary squamous cell carcinoma of the parotid gland (pSCCP) has long been recognized as a separate entity and is included in the WHO classifications of salivary gland tumors. However, it is widely accepted among head and neck pathologists that pSCCP is exceptionally rare. Yet, there are many publications describing series of pSCCP and data from SEER and other cancer register databases indicate erroneously an increasing incidence of pSCCP.

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Unlabelled: Malignant tumors derived from the epithelium lining the nasal cavity region are termed sinonasal cancers, a highly heterogeneous group of rare tumors accounting for 3 - 5 % of all head and neck cancers. Progress with next-generation molecular profiling has improved our understanding of the complexity of sinonasal cancers and resulted in the identification of an increasing number of distinct tumor entities. Despite these significant developments, the treatment of sinonasal cancers has hardly evolved since the 1980s, and an advanced sinonasal cancer presents a poor prognosis as targeted therapies are usually not available.

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Classification of tumors of the head and neck has evolved in recent decades including a widespread application of molecular testing in tumors of the sinonasal tract, salivary glands, and soft tissues with a predilection for the head and neck. The availability of new molecular techniques has allowed for the definition of multiple novel tumor types unique to head and neck sites. Moreover, an expanding spectrum of immunohistochemical markers specific to genetic alterations facilitates rapid identification of diagnostic molecular abnormalities.

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Background: The clinical significance of single cell invasion and large nuclear diameter is not well documented in early-stage oral tongue squamous cell carcinoma (OTSCC).

Methods: We used hematoxylin and eosin-stained sections to evaluate the presence of single cell invasion and large nuclei in a multicenter cohort of 311 cases treated for early-stage OTSCC.

Results: Single cell invasion was associated in multivariable analysis with poor disease-specific survival (DSS) with a hazard ratio (HR) of 2.

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The mortality rates of laryngeal squamous cell carcinoma cancer (LSCC) have not significantly decreased in the last decades.: We primarily aimed to compare the predictive performance of DeepTables with the state-of-the-art machine learning (ML) algorithms (Voting ensemble, Stack ensemble, and XGBoost) to stratify patients with LSCC into chance of overall survival (OS). In addition, we complemented the developed model by providing interpretability using both global and local model-agnostic techniques.

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Classification of head and neck tumors has evolved in recent decades including a widespread application of molecular testing in tumors of the salivary glands, sinonasal tract, oropharynx, nasopharynx, and soft tissue. Availability of new molecular techniques allowed for the definition of multiple novel tumor types unique to head and neck sites. Moreover, the expanding spectrum of immunohistochemical markers facilitates a rapid identification of diagnostic molecular abnormalities.

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Background: Treatment resistance and relapse are common problems in head and neck squamous cell carcinoma (HNSCC). Except for p16, no clinically accepted prognostic biomarkers are available for HNSCC. New biomarkers predictive of recurrence and survival are crucial for optimal treatment planning and patient outcome.

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