Diagnosis Of Tumors Research Articles

Noninvasive Polypoid Malignant Mixed Mullerian Tumor of the Uterus: A Case Report and Literature Review

Introduction: Malignant mixed Müllerian tumors (MMMT), also known as carcinosarcomas, are rare and highly aggressive neoplasms of the uterus, accounting for less than 5% of all uterine malignancies. These tumors are biphasic, comprising both carcinomatous (epithelial) and sarcomatous (mesenchymal) components, and are typically associated with poor prognoses due to their rapid progression and high metastatic potential. In this report, we present a unique case of noninvasive polypoid MMMT of the uterus, highlighting its clinical presentation, diagnostic challenges, and management. We also provide a comprehensive literature review, which enriches our understanding of this case within the broader context of uterine carcinosarcomas. Results: This is the first documented case in English literature of a polypoid uterine carcinosarcoma without endometrial infiltration. It is significant because it adds to the limited literature on noninvasive polypoid MMMTs, typically aggressive and diagnosed at advanced stages. Uterine carcinosarcomas are generally aggressive, with most cases diagnosed at advanced stages. Conclusion: Uterine carcinosarcomas are indeed rare, aggressive, and rapidly progressing neoplasms with poor prognoses. It is crucial to include carcinosarcomas in the differential diagnosis of high-grade uterine neoplasms, especially for polypoid tumors. This inclusion is not just essential, but it is the key to ensuring accurate and timely diagnosis, underscoring the significant role of medical professionals in this process.

Discordance, accuracy and reproducibility study of pathologists’ diagnosis of melanoma and melanocytic tumors

Accurate melanoma diagnosis is crucial for patient outcomes and reliability of AI diagnostic tools. We assess interrater variability among eight expert pathologists reviewing histopathological images and clinical metadata of 792 melanoma-suspicious lesions prospectively collected at eight German hospitals. Moreover, we provide access to the largest panel-validated dataset featuring dermoscopic and histopathological images with metadata. Complete agreement is achieved in 53.5% of cases (424/792), and a majority vote ( ≥ five pathologists) in 90.9% (720/792). Considerable discordance is observed for non-invasive melanomas (complete agreement in only 10/73 cases). The expert panel disagrees with the local pathologists’ and dermatologists’ diagnoses in 14.9% and 33.5% of cases, respectively. This variability highlights the diagnostic challenges of early-stage melanomas and the need to reconsider how ground truth is established in routine care and AI research. Including at least two pathologists or virtual panels may contribute to more consistent diagnostic results.

Aggregation control of anionic pentamethine cyanine enabling excitation wavelength selective NIR-II fluorescence imaging-guided photodynamic therapy

Near-infrared (NIR)-II fluorescence imaging-guided photodynamic therapy (PDT) has shown great potential for precise diagnosis and treatment of tumors in deep tissues; however, its performance is severely limited by the undesired aggregation of photosensitizers and the competitive relationship between fluorescence emission and reactive oxygen species (ROS) generation. Herein, we report an example of an anionic pentamethine cyanine (C5T) photosensitizer for high-performance NIR-II fluorescence imaging-guided PDT. Through the counterion engineering approach, a triphenylphosphine cation (Pco) modified with oligoethylene glycol chain is synthesized and adopted as the counterion of C5T, which can effectively suppress the excessive and disordered aggregation of the resulting C5T-Pco by optimizing the dye amphipathicity and enhancing the cyanine-counterion interactions. Dynamic tuning of fluorescence characteristics and ROS generation is achieved at the aggregate level, resulting in an impressive type I ROS generation under 760 nm light irradiation, accompanied by efficient NIR-II fluorescence emission excited at 808 nm. As a result, excitation wavelength selective NIR-II fluorescence imaging-guided PDT has been successfully demonstrated for tumor diagnosis and therapeutics of female mice.

A Radiograph Dataset for the Classification, Localization, and Segmentation of Primary Bone Tumors

Primary malignant bone tumors are the third highest cause of cancer-related mortality among patients under the age of 20. X-ray scan is the primary tool for detecting bone tumors. However, due to the varying morphologies of bone tumors, it is challenging for radiologists to make a definitive diagnosis based on radiographs. With the recent advancement in deep learning algorithms, there is a surge of interest in computer-aided diagnosis of primary bone tumors. Nonetheless, the development in this field has been hindered by the lack of publicly available X-ray datasets for bone tumors. To tackle this challenge, we established the Bone Tumor X-ray Radiograph dataset (termed BTXRD) in collaboration with multiple medical institutes and hospitals. The BTXRD dataset comprises 3,746 bone images (1,879 normal and 1,867 tumor), with clinical information and global labels available for each image, and distinct mask and annotated bounding box for each tumor instance. This publicly available dataset can support the development and evaluation of deep learning algorithms for the diagnosis of primary bone tumors.

Exploiting the Impact of Sociodemographics in the Diagnosis of Central Nervous System Tumors in Childhood

Abstract Introduction Central nervous system (CNS) tumors are the most common solid tumors in childhood, comprising 20% of all neoplasms in that age. Besides, they constitute the biggest cause of morbidity and mortality among childhood tumors, and about two thirds of the surviving patients have sequelae. The build-up of sequelae due to neoplastic growth is directly related with the time until diagnosis. Therefore, late diagnosis has a negative influence on the prognosis. Objective To analyze the journey of the pediatric patients with CNS tumors and their families to the reference center. Materials and Methods The present is a retrospective, prospective cohort study based on chart analyses and questionnaire application. Results The mean age of the patients was 8.39 years, most were male (58%), white (56%), and originated from the Southeast of Brazil (56%). A total of 83% of the patients were accompanied by their mothers, and the family income obtained was below 3 minimum wages (20%). The average time until perception of the first signs or symptoms was 48 days, the mean time from symptom perception until the first medical appointment was 30 days, and the mean time between the first medical appointment and referral to Hospital de Amor Infantojuvenil de Barretos was 315 days. The most frequently present signs and symptoms were neurological manifestations (72%), such as headaches (14.8%) and projectile vomiting (6.5%). There was an association between the medical service (public or private service) where the first medical appointment took place and the first medical specialty consulted, although it did not relate to a shorter time until diagnosis. Conclusion The difficulties in the journey of CNS tumor pediatric patients occurred mainly due to health system flaws and medical professionals' hardships. Thus, it is essential to reinforce the importance of continued medical education and to encourage new studies that may reveal precisely where these system flaws are taking place.

Coexisting Congenital Mesoblastic Nephroma and Lissencephaly: Unique Case Report with Pathological Analysis and Its Clinical Significance

Background: Congenital mesoblastic nephroma represents 3–10% of all pediatric renal tumors. With the advancement of ultrasound diagnostics and magnetic resonance imaging, the diagnosis of this renal neoplasm is increasingly being established prenatally and at birth. It usually presents as a benign tumor, but it can severely affect pregnancy outcomes, contributing to perinatal morbidity and mortality. Lissencephaly belongs to a rare category of neurodevelopmental disorders marked by the absence of a substantial reduction in the typical folds and grooves in the cerebral cortex. The prognosis for patients with lissencephaly is extremely poor, carrying with it a high mortality rate. Case Presentation: We present a case of congenital mesoblastic nephroma (CMN) diagnosed with polyhydramnios at 28 weeks of gestation, which led to preterm delivery at 29 weeks and a fatal outcome for the newborn. Histopathological examination confirmed the diagnosis of CMN along with fetal pachygyria/lissencephaly. The aim of this study is to point out the characteristics and unique correlation between CMN and lissencephaly, and to illustrate the histopathological features of CMN and lissencephaly through an educational example derived from our presented index case. To the best to our knowledge, the association of CMN with lissencephaly has not been described in the literature so far. Conclusions: Outlining the prenatal progression of CMN and the outcome of pregnancies involving fetal CMN and lissencephaly, this case underscores the importance of comprehensive ultrasound examinations, including central nervous system evaluation, to identify potential coexisting anomalies and refine prenatal diagnostic practices.

Editorial: Research on nanomaterials in tumor diagnosis and therapy

Editorial: Research on nanomaterials in tumor diagnosis and therapy

Efficacy of Magnifying Texture and Color Enhancement Imaging With Indigo Carmine as an Alternative to Crystal Violet for Colorectal Tumors.

Pit pattern diagnosis using crystal violet staining for colorectal tumors is useful for qualitative and depth diagnosis. However, due to its reported carcinogenic potential, the use of crystal violet has been restricted. This study was aimed at investigating the efficacy of texture and color enhancement imaging (TXI) magnification in pit pattern diagnosis. This study enrolled consecutive patients with consent obtained and with colonic tumors indicated for magnifying endoscopy in which all modalities' images (magnified observation with crystal violet staining (CV), magnified white light observation with indigo carmine (IC-WLI), and magnified TXI observation with indigo carmine (IC-TXI)) were evaluable between July 2020 and January 2023. The visibility of the pit pattern using a 5-point Likert scale and its diagnostic accuracy were compared (IC-TXI vs. IC-WLI, reference: CV, by three experts). A total of 145 colorectal tumors from 145 patients were included. Visibility scores for the pit pattern were significantly higher with IC-TXI compared to IC-WLI (all three experts, p < 0.0001). The pit pattern match rate (Type II/III/IV/V) of IC-TXI compared to CV was also superior to IC-WLI (72.9% vs. 59.7%; p = 0.02). IC-TXI provided reasonably good and higher visibility and diagnostic accuracy than IC-WLI for pit pattern diagnosis of colorectal tumors compared to CV, suggesting it as an alternative to CV.

Breakthrough in breast tumor detection and diagnosis: a noise-resilient, rotation-invariant framework

Breakthrough in breast tumor detection and diagnosis: a noise-resilient, rotation-invariant framework

MRI-Based Multifunctional Nanoliposomes for Enhanced HCC Therapy and Diagnosis.

The morbidity and mortality rates of hepatocellular carcinoma (HCC) are high and continue to increase. The antitumor effects of single therapies are limited because of tumor heterogeneity and drug resistance, and the lack of real-time monitoring of tumor progression during the treatment process leads to poor therapeutic outcomes. Therefore, novel nanodelivery platforms combining tumor therapy and diagnosis have garnered extensive attention. In this study, we developed a multifunctional nanodelivery vector, LPSD-DOX/siRNA, which was loaded with oleic acid-modified superparamagnetic iron oxide nanoparticles (OA-SPION) and the antitumor drug doxorubicin (DOX), further modified by DOTAP to carry small interfering RNA targeting phosphatidylinositol proteoglycan-3 (Glypican-3, GPC3) (siRNA-GPC3). These components were utilized for the combined treatment of HCC and tumor monitoring with magnetic resonance imaging. LPSD-DOX/siRNA exhibited high drug loading, high gene transfection efficiency, and low toxicity. Pharmacokinetic and in vivo distribution experiments showed that LPSD-DOX/siRNA significantly prolonged the circulation time of DOX and enhanced drug accumulation at the tumor site. Magnetic resonance imaging demonstrated that LPSD-DOX/siRNA can serve as a T2 imaging contrast agent to enhance the imaging contrast between the tumor site and other tissues and facilitate the imaging monitoring of tumor tissues. Antitumor experiments revealed that the effects of DOX were promoted by inhibiting the expression of GPC3 protein in HepG2 cell-transplanted tumors, with increased tumor apoptosis. In conclusion, LPSD-DOX/siRNA serves as a promising strategy for combination therapy and monitoring of HCC, with significant potential in antitumor therapy.

Clinical Characteristics of Ear Chondroid Syringoma: A Report of 2 Cases and a Literature Review.

Chondroid syringoma, a mixed tumor of the skin, is an acquired hamartoma that differentiates into hair follicles, sebaceous glands, and apocrine sweat glands. Chondroid syringoma in the ear region is exceptionally rare. However, we present 2 cases of ear chondroid syringoma: 1 involving multiple lesions in the external auditory canal and the other including a single lesion behind the auricle. We reviewed relevant literature to offer insights into the diagnosis and treatment of ear tumors in the future.

Imaging of Peripheral Intraneural Tumors: A Comprehensive Review for Radiologists

Background/Objectives: Intraneural tumors (INTs) pose a diagnostic challenge, owing to their varied origins within nerve fascicles and their wide spectrum, which includes both benign and malignant forms. Accurate diagnosis and management of these tumors depends upon the skills of the radiologist in identifying key imaging features and correlating them with the patient’s clinical symptoms and examination findings. Methods: This comprehensive review systematically analyzes the various imaging features in the diagnosis of intraneural tumors, ranging from basic MR to advanced MR imaging techniques such as MR neurography (MRN), diffusion tensor imaging (DTI), and dynamic contrast-enhanced (DCE) MRI. Results: The article emphasizes the differentiation of benign from malignant lesions using characteristic MRI features, such as the “target sign” and “split-fat sign” for tumor characterization. The role of advanced multiparametric MRI in improving biopsy planning, guiding surgical mapping, and enhancing post-treatment monitoring is also highlighted. The review also underlines the importance of common diagnostic pitfalls and highlights the need for a multi-disciplinary approach to achieve an accurate diagnosis, appropriate treatment strategy, and post-therapy surveillance planning. Conclusions: In this review, we illustrate the main imaging findings of intraneural tumors, focusing on specific MR imaging features that are crucial for an accurate diagnosis and the differentiation between benign and malignant lesions.

Case report: Intra-abdominal inflammatory myofibroblastic tumor with mucinous features: a case of rapid recurrence and dissemination post-surgery

Inflammatory myofibroblastic tumors (IMTs) are rare mesenchymal neoplasms with intermediate biological potential and are characterized by spindle-shaped myofibroblastic cells and significant inflammatory infiltrates. This case report describes a 24-year-old male with diabetes who was admitted to the hospital for over three days of vomiting and abdominal pain and was initially diagnosed with diabetic ketoacidosis. Upon admission, an abdominal CT scan revealed a large cystic-solid mass in the abdominal cavity and multiple nodules in the mesentery, omentum, and peritoneum, suggesting a preliminary diagnosis of an intra-abdominal mesenchymal tumor with peritoneal metastasis. The patient underwent tumor resection, and postoperative pathology confirmed it to be an IMT rich in mucin, with a Ki-67 proliferation index of 50%. Despite the initial symptom improvement after surgery, the patient experienced rapid recurrence with more extensive abdominal lesions. The patient refused further treatment, and died shortly thereafter. The case underscores the aggressive nature of inflammatory myofibroblastic tumors (IMTs) characterized by significant mucinous features, which are prone to recurrence and may suggest a poor prognosis. Radiological examinations and preoperative fine-needle aspiration biopsy may play a crucial role in managing such cases. Furthermore, alternative non-surgical treatment options or adjunct postoperative treatments could have a positive impact on the prognosis of this patient group. Further research is vital for enhancing our understanding of this rare tumor type and optimizing treatment strategies.

Subungual eccrine poroma: an unusual location

Introduction: Eccrine poroma is a rare benign adnexal tumor that originates from the acrosyringium of eccrine sweat ducts, typically found on palms and soles. Its occurrence in subungual location is rare, making diagnosis and treatment challenging. We present the details of subungual eccrine poroma, emphasizing its unusual presentation, dermoscopic features and management. Case Presentation: A 36-year-old female presented with a slowly-growing, asymptomatic, reddish subungual mass under the left index finger nail for past 5 years. Onychoscopy showed a reddish-pink homogenous area with keratotic borders, reddish globules and dotted vessels. An excisional biopsy was done and a final diagnosis of eccrine poroma was made on histopathology, with no recurrence over 6 months of follow-up. Conclusion: Given the rarity of subungual involvement, our case highlights the importance of considering eccrine poroma in the differential diagnosis of subungual tumors. Onychoscopy can aid in diagnosis and differentiation from other subungual masses; though a definitive diagnosis requires histopathology.

CRISPR detection of cardiac tumor-associated microRNAs.

As multiple imaging modalities cannot reliably diagnose cardiac tumors, the molecular approach offers alternative ways to detect rare ones. One such molecular approach is CRISPR-based diagnostics (CRISPR-Dx). CRISPR-Dx enables visual readout, portable diagnostics, and rapid and multiplex detection of nucleic acids such as microRNA (miRNA). Dysregulation of miRNA expressions has been associated with cardiac tumors such as atrial myxoma and angiosarcoma. Diverse CRISPR-Dx systems have been developed to detect miRNA in recent years. These CRISPR-Dx systems are generally classified into four classes, depending on the Cas proteins used (Cas9, Cas12, Cas13, or Cas12f). CRISPR/Cas systems are integrated with various isothermal amplifications to detect low-abundance miRNAs. Amplification-free CRISPR-Dx systems have also been recently developed to detect miRNA directly. Herein, we critically discuss the advances, pitfalls, and future perspectives for these CRISPR-Dx systems in detecting miRNA, focusing on the diagnosis and prognosis of cardiac tumors.

Calcified chondroid mesenchymal neoplasm: a clinicopathological and molecular analysis

AimsCalcified chondroid mesenchymal neoplasm (CCMN) is a recently identified category of soft tissue neoplasms defined by cartilage or cartilaginous matrix formation and FN1 gene fusions. Its rarity and similarities to...

CYSTIC LESIONS OF THE SALIVARY GLANDS(Report of 3 cases)

At least one-third of cystic salivary gland lesions are neoplastic. Cystic lesion of the salivary gland requires only surgery, because regardless of the type and location, drug therapy is not possible with this diagnosis.. If the cystic neoplasm is localized in a hard-to-reach place and if it is localized in the parotid gland, the surgical manipulation is performed from the outside, it is removed simultaneously with the parenchyma of the salivary gland. The FNA specimens from salivary gland cystic lesions can be no informative very often, because FNA of these lesions demonstrates hypocellular mucinous material contents, possibly with inflammatory cells and also scant epithelial cells. For example, the presence of mucin and admixed lymphocytes in cyst fluid can be demonstrated both in the benign inflammatory cysts and cystic neoplasms. A definitive diagnosis of cystic neoplasms of the salivary glands is possible only through histological examination of the neoplastic tissue. Prevention of cystic neoplasms of the salivary gland consists of preventing injuries and inflammations of the oral cavity, careful hygiene and regular visits to the dentist. This article presents cases of the salivary glands cystic neoplasms, which are the clinical interest.

The molar dose of FAPI administered impacts on the FAP-targeted PET imaging and therapy in mouse syngeneic tumor models.

Since fibroblast activation protein (FAP), one predominant biomarker of cancer associated fibroblasts (CAFs), is highly expressed in the tumor stroma of various epidermal-derived cancers, targeting FAP for tumor diagnosis and treatment has shown substantial potentials in both preclinical and clinical studies. However, in preclinical settings, tumor-bearing mice exhibit relatively low absolute FAP expression levels, leading to challenges in acquiring high-quality PET images using radiolabeled FAP ligands (FAPIs) with low molar activity, because of which a saturation effect in imaging is prone to happen. Moreover, how exactly the molar dose of FAPI administered to a mouse influences the targeted PET imaging and radiotherapy remains unclear now. Therefore, this study aims to investigate the impacts of the molar dose of the administered FAPI on FAP-targeted PET imaging and radiotherapy in mouse syngeneic tumor models. [68Ga]Ga-FAPI-04 with various molar doses of FAPI-04 was administered to wild-type 4T1 tumor-bearing mice, followed by static PET imaging. Sigmoidal curves were generated to analyze the correlation between the standard uptake value (SUV) and the administered molar doses of FAPI-04. Similarly, [177Lu]Lu-DOTAGA.(SA.FAPi)2 with a consistent dose of radioactivity but containing different moles of DOTAGA.(SA.FAPi)2 were injected into 4T1 tumor-bearing mice to assess the therapeutic effect. [68Ga]Ga-FAPI-04 was also applied to different tumor models for PET/CT imaging. A gradient blocking effect was observed with increasing FAPI molar dose in [68Ga]Ga-FAPI-04 PET imaging and [177Lu]Lu-DOTAGA.(SA.FAPi)2 treatment, with various imaging and therapeutic outcomes. [68Ga]Ga-FAPI-04 PET exhibit potentials to characterize murine derived FAP expression with low molar dose of administered FAPI-04 using various tumor models. The molar dose of FAPI in [68Ga]Ga/[177Lu]Lu-FAPI had a substantial impact on FAP-targeted imaging and therapy in mouse syngeneic tumor models. To acquire enhanced reliability and reproducibility in preclinical situation, it is critical to carefully consider the molar dose of the radiotracer when applying radiolabeled FAP ligands to FAP-targeted imaging and radiotherapy.

Amorphous/Crystalline Urchin-Like TiO2 SERS Platform for Selective Recognition and Efficient Identification of Glutathione.

Glutathione serves as a common biomarkers in tumor diagnosis and treatment. The levels of its intracellular concentration permit detailed investigation of the tumor microenvironment. However, low polarization and weak Raman scattering cross-section make direct and indirect Raman detection challenging. This study designs an amorphous-crystalline urchin-like TiO2 (AC-UL-TiO2) for the accurate identification of GSH and GSSG. By synergistically regulating the crystalline core and amorphous shell, the bandgap structure is optimized, thereby enhancing charge transfer efficiency. AC-UL-TiO2 demonstrates excellent SERS performance in detecting dye molecules with good selectivity for mixed analytes. The enhancement factor (EF) for R6G is 6.89 × 106, and the limit of detection (LOD) is 10-10M. A SERS-colorimetric dual-modality platform is developed based on the AC-UL-TiO2@DTNB system to accurately monitor GSH concentrations from 0 to 1000 µM, providing a robust dual-confirmation result. Importantly, combined with the principal component analysis method, the AC-UL-TiO2 SERS platform can directly distinguish GSH and GSSG molecules. Besides, direct SERS detection LOD for GSH and GSSG are 10-8M, which is 100 times higher than that of indirect detection. These findings indicate that AC-UL-TiO2 holds potential for biomarkers trace detection in tumor microenvironments.

Accurate identification of primary site in tumors of unknown origin (TUO) using DNA methylation

Tumors of unknown origin (TUO) generally result in poor patient survival and are clinically difficult to address. Identification of the site of origin in TUO patients is paramount to their improved treatment and survival but is difficult to obtain with current methods. Here, we develop a random forest machine learning TUO methylation classifier using a large number of primary and metastatic tumor samples. Our classifier achieves high accuracy in primary site identification when applied to both publicly available and internal validation samples, with 97% of samples classified correctly and 85% receiving high probability scores (≥0.9). Moreover, by employing pathologist expertise and t-SNE visualization, the TUO classifier can assign samples to 46 different sites of origin/disease classes. This strategy also revealed multiple classes of yet unknown significance for future exploration. Overall, the presented TUO classifier represents a significant step forward in the diagnosis of TUO tumors.