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11 pages, 2292 KB

Open AccessArticle

Are There CT Imaging Features That Can Distinguish Primary Pulmonary Squamous Cell Carcinoma from Solitary Lung Metastasis of Head and Neck Squamous Cell Carcinoma?

by Camila Vilela de Oliveira, Corinne C. Liu, Maria Mayoral, Andrew M. Pagano, Eduardo J. Ortiz, Jason Chang, Stephanie Lobaugh, Marinela Capanu, Michelle S. Ginsberg and Andrew J. Plodkowski

Cancers 2026, 18(11), 1703; https://doi.org/10.3390/cancers18111703 - 23 May 2026

Viewed by 364

Abstract

Background/Objectives: Distinguishing primary lung squamous cell carcinoma (PLSCC) from metastatic head and neck squamous cell carcinoma (MHNSCC) to the lungs is challenging for pathologists, especially when patients present with a solitary lung nodule. The purpose of this study was to identify CT [...] Read more.

Background/Objectives: Distinguishing primary lung squamous cell carcinoma (PLSCC) from metastatic head and neck squamous cell carcinoma (MHNSCC) to the lungs is challenging for pathologists, especially when patients present with a solitary lung nodule. The purpose of this study was to identify CT imaging features that differ between PLSCC from solitary MHNSCC to the lungs, using next-generation sequencing (NGS) and human papillomavirus in situ hybridization analysis as the gold reference standard. Methods: This retrospective, single-institution cross-sectional study included patients with a biopsy-proven PLSCC or solitary MHNSCC from July 2013 to May 2022, who underwent NGS or in situ hybridization, and baseline CT or PET/CT. Each scan was evaluated by at least two radiologists. Nodular, pleural, and ancillary CT features, as well as maximum standardized uptake value (SUVmax) from PET/CTs, were recorded. Associations between imaging features and pathology were examined using either the Wilcoxon rank-sum or Fisher’s exact test. Results: In total, 81 patients were included (median 66 years; 64 male); 36/81 (44%) had PLSCC and 45/81 (56%) had MHNSCC. PLSCC was associated with a larger size (median, 3.3–3.6 cm vs. 1.4–1.6 cm, p < 0.001), and the presence of post obstructive atelectasis (p = 0.002), pleural retraction (p < 0.001), pleural tags (p = 0.02), and pleural surface involvement (p = 0.02). MHNSCC presented as smaller peripheral nodules (p = 0.003) with lower SUVmax (p = 0.01). Conclusions: Several CT imaging features as well as SUVmax from PET/CT were significantly different between PLSCC and solitary MHNSCC and their potential discriminatory ability warrants evaluation in future studies. Full article

(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)

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22 pages, 6804 KB

Open AccessArticle

Diagnostic Value of Serum CFL1 and TAGLN2 for Non-Metastatic Gastric Cancer: A Retrospective and Prospective Real-World Study

by Kewei Du, Shan Gao, Haichen Wang, Wenfei Hu, Caiyan Gao, Xiaoling Zheng, Xiaoqing Meng, Tuanjie Che and Shangdi Zhang

Cancers 2026, 18(10), 1598; https://doi.org/10.3390/cancers18101598 - 14 May 2026

Viewed by 305

Abstract

Background: Timely screening and diagnosis are critical for improving prognosis and survival in gastric cancer. Building on prior serum proteomics findings, this study evaluated two novel early-stage diagnostic biomarkers, CFL1 and TAGLN2, using retrospective and prospective cohorts. Methods: Retrospective analysis included [...] Read more.

Background: Timely screening and diagnosis are critical for improving prognosis and survival in gastric cancer. Building on prior serum proteomics findings, this study evaluated two novel early-stage diagnostic biomarkers, CFL1 and TAGLN2, using retrospective and prospective cohorts. Methods: Retrospective analysis included 176 non-metastatic gastric cancer patients, 88 healthy controls, and patients with non-gastric non-metastatic cancers/malignancies (n = 143). A prospective study enrolled 88 gastroenterology patients with unknown cancer status before sampling; conventional markers, including CEA, AFP, CA199, and CA125, were measured for comparison. Results: Retrospectively, CFL1 and TAGLN2 achieved approximately 80% sensitivity and >70% accuracy in distinguishing gastric cancer from controls. Prospectively, both markers reached 87.5% sensitivity and 100% specificity, with high NPV and low negative likelihood ratio, supporting their potential for early screening. CFL1 showed higher disease specificity and pre-analytical stability than TAGLN2 across multiple non-gastric cancers and special-condition samples. Conclusions: A combined panel with routine markers improved calibration and decision-curve benefit, suggesting that multi-marker testing can enhance risk stratification and screening efficiency. Full article

(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)

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12 pages, 905 KB

Open AccessArticle

Early Postoperative PSA Dynamics and Prognostic Implications After Radical Prostatectomy

by Yukun Tan, Qing H. Meng, Merve Dede, Ingold Huang, Hui Song, Ken Chen and Yu Zhang

Cancers 2026, 18(5), 850; https://doi.org/10.3390/cancers18050850 - 6 Mar 2026

Cited by 1 | Viewed by 747

Abstract

Background: Serum PSA has been widely applied to monitor prostate cancer after treatment. Compared to a single static value, PSA dynamics may provide additional prognostic information. Although PSA velocity and doubling time have demonstrated prognostic value, their clinical utility is limited by [...] Read more.

Background: Serum PSA has been widely applied to monitor prostate cancer after treatment. Compared to a single static value, PSA dynamics may provide additional prognostic information. Although PSA velocity and doubling time have demonstrated prognostic value, their clinical utility is limited by the need for prolonged longitudinal PSA follow-up. This study aimed to evaluate the prognostic potential of early postoperative PSA dynamics following radical prostatectomy. Methods: A retrospective cohort study of 3474 patients who underwent radical prostatectomy with available pre- and postoperative serum PSA measurements was analyzed. A population-based approach was used to characterize early postoperative PSA dynamics and estimate the time required for PSA to decline to undetectable levels (<0.1 ng/mL). Accordingly, patients were classified into early remission (≤60 days), delayed remission (>60 days), or persistent PSA (failure to achieve undetectable PSA). Associations between postoperative PSA dynamics and clinical outcomes were evaluated. Results: Biochemical recurrence rates differed across the early remission, delayed remission, and persistent PSA groups (5.3%, 7.7%, and 24.0%). All-cause mortality similarly increased across these groups (1.1%, 1.9%, and 5.8%, respectively). Cox proportional hazards models confirmed the difference in recurrence-free and overall survival among PSA clearance groups. Conclusions: Early postoperative PSA dynamics after radical prostatectomy are strongly associated with recurrence and survival outcomes. Both PSA trajectory patterns and PSA clearance speed carry important prognostic information. Early postoperative PSA monitoring may support risk stratification and guide individualized postoperative surveillance. Full article

(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)

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14 pages, 1038 KB

Open AccessEditor’s ChoiceArticle

Comparative Analysis of Targeted RNA-Seq and Optical Genome Mapping for Detecting Gene Rearrangements in Acute Leukemia

by Chi Young Ok, Guilin Tang, Sanam Loghavi, Shimin Hu, Qing Wei, Andres E. Quesada, Mark J. Routbort, Rashmi Kanagal-Shamanna, C. Cameron Yin, Iman Sarami, Sofia Garces, Nitin K. Agarwal, Raja Luthra, Hong Fang, Fatima Zahra Jelloul, Julian Bryan, L. Jeffrey Medeiros, Keyur P. Patel and Gokce A. Toruner

Cancers 2025, 17(21), 3458; https://doi.org/10.3390/cancers17213458 - 28 Oct 2025

Cited by 4 | Viewed by 2028

Abstract

Background/Objectives: Gene rearrangements involving oncogenes are major drivers in acute leukemia, influencing disease classification, prognosis, and therapeutic decision-making. Targeted RNA sequencing (RNA-Seq) panels capable of detecting intergenic and intragenic fusions across multiple genes are increasingly used in diagnostic settings. However, comparative evaluation with [...] Read more.

Background/Objectives: Gene rearrangements involving oncogenes are major drivers in acute leukemia, influencing disease classification, prognosis, and therapeutic decision-making. Targeted RNA sequencing (RNA-Seq) panels capable of detecting intergenic and intragenic fusions across multiple genes are increasingly used in diagnostic settings. However, comparative evaluation with orthogonal technologies remains limited. Material and Methods: We compared the performance of a 108-gene anchored multiplex PCR (AMP)-based RNA-Seq panel with that of Optical Genome Mapping (OGM) in 467 acute leukemia cases. The cohort included 360 cases of acute myeloid leukemia (AML), 89 B-lymphoblastic leukemia (B-ALL), 12 T-lymphoblastic leukemia (T-ALL), and 6 cases of mixed phenotype acute leukemia (MPAL). Results: Results of both methods were concordant in 175 (74.7%) of 234 detected gene/rearrangement fusions. The concordance rate varied significantly across different leukemia types, ranging from 80.2% in B-ALL to 41.7% in T-ALL (p < 0.001) OGM uniquely detected 37 of 234 (15.8%) clinically relevant rearrangements, whereas RNA-Seq exclusively identified 22 of 234 (9.4%). Enhancer-hijacking lesions, including MECOM and BCL11B rearrangements, CDK6::MNX1, and IGH rearrangements, had a markedly lower concordance (20.6%) compared with all other aberrations (93.1%) (p < 0.001). Conversely, some gene fusions arising from intrachromosomal deletions were interpreted by OGM as simple deletions rather than rearrangements or fusions. Conclusions: Targeted RNA-Seq was effective for detecting chimeric fusion transcripts and showed slightly better performance in identifying fusions resulting from deletions. However, OGM was effective for detecting enhancer-hijacking events that do not generate fusion transcripts. Both methods are complementary for the workup of acute leukemia cases. Full article

(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)

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15 pages, 1577 KB

Open AccessArticle

Clinical Utility of Optical Genome Mapping as an Additional Tool in a Standard Cytogenetic Workup in Hematological Malignancies

by Gokce A. Toruner, Shimin Hu, Sanam Loghavi, Chi Young OK, Zhenya Tang, Qing Wei, Rashmi Kanagal-Shamanna, L. Jeffrey Medeiros and Guilin Tang

Cancers 2025, 17(9), 1436; https://doi.org/10.3390/cancers17091436 - 25 Apr 2025

Cited by 20 | Viewed by 2731

Abstract

Background and Objective: The primary objective of this study is to evaluate the added value of optical genome mapping (OGM) when integrated into the standard cytogenetic workup (SCGW) for hematological malignancies. Methods: The study cohort comprised 519 cases with different types of hematological [...] Read more.

Background and Objective: The primary objective of this study is to evaluate the added value of optical genome mapping (OGM) when integrated into the standard cytogenetic workup (SCGW) for hematological malignancies. Methods: The study cohort comprised 519 cases with different types of hematological malignancies. OGM and SCGW (including G-banded karyotyping and fluorescence in situ hybridization) were performed on blood and/or bone marrow. The analytical sensitivity of OGM, defined as the detection of all additional cytogenomic aberrations, and its clinical utility, referring to aberrations with diagnostic, prognostic, or therapeutic significance, were assessed. Results: OGM led to increased analytical sensitivity and clinical utility in 58% and 15% of the cases, respectively. The clinical utility varied across different malignancies, with the highest utility in T-lymphoblast leukemia (52%), followed by mixed phenotype acute leukemia (43%), B-lymphoblastic leukemia (37%), other B-cell lymphomas (22%), mature T-cell leukemia/lymphoma (20%), chronic lymphocytic leukemia (14%), acute myeloid leukemia (13%), multiple myeloma (13%), mantle cell lymphoma (8%), myelodysplastic/myeloproliferative neoplasms (6%), myelodysplastic syndrome (5%), and myeloproliferative neoplasms (0%). Conclusion: Compared to SCGW, OGM detects additional cytogenomic aberrations in approximately 58% of cases. OGM provides clinical utility at varying rates across different types of hematological malignancies. Given these differences, strategic triaging can help maximize the clinical value of OGM by focusing on diseases where it offers the most significant benefit. Full article

(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)

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Review

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23 pages, 365 KB

Open AccessReview

Selected Potential Biomarkers in Laryngeal Cell Carcinomas

by Roman Paduch, Maria Klatka and Janusz Klatka

Cancers 2026, 18(3), 477; https://doi.org/10.3390/cancers18030477 - 31 Jan 2026

Viewed by 955

Abstract

Laryngeal squamous carcinoma is a major type of head and neck cancer. Despite a wide range of treatment options, it remains a challenge to identify which ones are the most effective for which groups of patients. One solution is to analyse selected biomarkers. [...] Read more.

Laryngeal squamous carcinoma is a major type of head and neck cancer. Despite a wide range of treatment options, it remains a challenge to identify which ones are the most effective for which groups of patients. One solution is to analyse selected biomarkers. In this paper, biomarkers are divided into distinctive groups according to the molecular pathways analysed or specific molecules within the cell or in tissue fluids. The paper provides a description of these groups, including genetic and apoptosis-associated factors, factors regulating angiogenesis, cell structure regulators, immune factors in the form of programmed cell death ligand (PD-L1), hormone receptors, molecules involved in growth factor pathways, and cell cycle regulators. Representative examples are discussed for each of these groups, indicating their potential usefulness in staging, assessing tumour aggressiveness, and making a prognosis. Full article

(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)

24 pages, 1325 KB

Open AccessEditor’s ChoiceReview

Bridging Discovery and Treatment: Cancer Biomarker

by Hengrui Liu, Ilayda Karsidag, Rebecca Golin and Guangzhen Wu

Cancers 2025, 17(22), 3720; https://doi.org/10.3390/cancers17223720 - 20 Nov 2025

Cited by 8 | Viewed by 4522

Abstract

Biomarkers have transformed cancer care by linking molecular insights to personalized treatment strategies. This review first surveys the spectrum of detection modalities, including tissue genomics and histopathology; liquid biopsies such as circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), and extracellular vesicles; imaging [...] Read more.

Biomarkers have transformed cancer care by linking molecular insights to personalized treatment strategies. This review first surveys the spectrum of detection modalities, including tissue genomics and histopathology; liquid biopsies such as circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), and extracellular vesicles; imaging and radiomics; and multi-omic approaches spanning epigenomics, transcriptomics, proteomics, metabolomics, and microbiomics. We then critically appraise the translational challenges that hinder clinical implementation, assay standardization, data integration, analytical and clinical validation, regulatory pathways, and cost-effectiveness. Finally, we explore emerging solutions, including artificial intelligence (AI)-driven multi-modal phenotyping, adaptive trial designs, and point-of-care assays, and outline future directions for expanding access and equitable adoption. By emphasizing the central role of biomarkers in guiding targeted and immune-based therapies, we underscore their potential to overcome tumor heterogeneity, preempt resistance, and ultimately improve patient outcomes. Full article

(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)

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15 pages, 262 KB

Open AccessReview

Molecular Biomarkers in Borderline Ovarian Tumors: Towards Personalized Treatment and Prognostic Assessment

by Stefania Drymiotou, Efthymia Theodorou, Kathrine Sofia Rallis, Marios Nicolaides and Michail Sideris

Cancers 2025, 17(3), 545; https://doi.org/10.3390/cancers17030545 - 6 Feb 2025

Cited by 5 | Viewed by 4024

Abstract

Borderline Ovarian Tumours (BOTs) are a heterogenous group of ovarian neoplasms which have increased mitotic activity but lack stromal invasion. We performed a narrative review of the literature, aiming to identify prognostic molecular biomarkers that can potentially be used for treatment personalisation. We [...] Read more.

Borderline Ovarian Tumours (BOTs) are a heterogenous group of ovarian neoplasms which have increased mitotic activity but lack stromal invasion. We performed a narrative review of the literature, aiming to identify prognostic molecular biomarkers that can potentially be used for treatment personalisation. We identified and discussed BRAF/KRAS, Cancer Antigen 125 (Ca 125), Calprotectin, p16ink4a, and Microsatellite instability (MSI) as the most studied biomarkers related to BOTs. Overall, BRAF and KRAS mutations are associated with earlier-stage and favourable prognosis; KRASmt may indicate extraovarian disease in serous BOT (sBOT). Ca125, the only currently clinically used biomarker, can be assessed pre-operatively and has an established role in post-operative surveillance, especially when it is raised pre-operatively or a high potential for malignant transformation is suspected post-operatively. p16ink4a expression trends could also indicate the malignant transformation of the tumour. Calprotectin has an inferior specificity to Ca125 and is not yet established as a biomarker, whilst there is very limited evidence available for MSI. As new evidence is coming along with artificial intelligence platforms, these biomarkers can be integrated and used towards the development of a precision model for treatment stratification and counselling in women diagnosed with BOTs. Full article

(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)

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