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15 pages, 2444 KB  
Article
Diagnostic Value of EUS-FNA in the Differential Diagnosis of Esophageal Strictures Lacking Typical Malignant Features
by Keyi Zhang, Qi He, Yu Jin, Caihan Duan, Jun Liu, Chaoqun Han and Rong Lin
Diagnostics 2025, 15(19), 2470; https://doi.org/10.3390/diagnostics15192470 - 26 Sep 2025
Viewed by 256
Abstract
Background: Esophageal strictures lacking typical malignant endoscopic features present a significant diagnostic challenge, often mimicking malignancy on imaging while concealing their true nature under regular white-light endoscopy. This study evaluated the utility of EUS-FNA in the differential diagnosis of such indeterminate strictures. Methods: [...] Read more.
Background: Esophageal strictures lacking typical malignant endoscopic features present a significant diagnostic challenge, often mimicking malignancy on imaging while concealing their true nature under regular white-light endoscopy. This study evaluated the utility of EUS-FNA in the differential diagnosis of such indeterminate strictures. Methods: We retrospectively analyzed 38 patients with suspicious malignant esophageal strictures indicated by CT but lacking definite malignant features on initial white-light gastroscopy. All patients underwent EUS-FNA for definitive pathological diagnosis. Clinicopathological data, imaging reports, endoscopic mucosal features, and procedural outcomes were assessed. Results: Among all 38 patients suspected of esophageal cancer by CT scan, 30 of them had malignant cytology results, including ESCC, EAC, metastatic cancer, and esophageal lymphoma. A total of 8 patients had benign findings, including esophageal tuberculosis, fungal esophagitis, eosinophilic esophagitis, and esophageal varices. Critically, EUS-FNA identified benign entities, such as eosinophilic esophagitis and esophageal tuberculosis masquerading as malignancy. CT features and mucosal features are also summarized and analyzed. Conclusions: EUS-FNA is a powerful tool for diagnosing esophageal strictures lacking typical malignant features. It reliably differentiates malignancy from challenging benign mimics, preventing misdiagnosis and guiding appropriate therapy. Clinicians should maintain a high suspicion for both occult malignancy and rare benign conditions in such stenotic lesions. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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11 pages, 1311 KB  
Case Report
Multisystemic Tuberculosis Masquerading as Aggressive Cardiac Tumor Causing Budd–Chiari Syndrome Disseminated to the Brain Resulting in Death of a Six-Year-Old Boy
by Eman S. Al-Akhali, Sultan Abdulwadoud Alshoabi, Halah Fuad Muslem, Fahad H. Alhazmi, Amirah F. Alsaedi, Kamal D. Alsultan, Amel F. Alzain, Awatif M. Omer, Maisa Elzaki and Abdullgabbar M. Hamid
Pathogens 2025, 14(8), 772; https://doi.org/10.3390/pathogens14080772 - 5 Aug 2025
Viewed by 1252
Abstract
Tuberculosis (TB) is an ancient and re-emerging granulomatous infectious disease that continues to challenge public health. Early diagnosis and prompt effective treatment are crucial for preventing disease progression and reducing both morbidity and mortality. These steps play a vital role in infection control [...] Read more.
Tuberculosis (TB) is an ancient and re-emerging granulomatous infectious disease that continues to challenge public health. Early diagnosis and prompt effective treatment are crucial for preventing disease progression and reducing both morbidity and mortality. These steps play a vital role in infection control and in lowering death rates at both individual and population levels. Although diagnostic methods have improved sufficiently in recent decades, TB can still present with ambiguous laboratory and imaging features. This ambiguity can lead to diagnostic pitfalls and potentially disastrous outcomes due to delayed diagnosis. In this article, we present a case of TB that was difficult to diagnose. The disease had invaded the mediastinum, right atrium, right coronary artery, and inferior vena cava (IVC), resulting in Budd–Chiari syndrome. This rare presentation created clinical, laboratory, and radiological confusion, resulting in a diagnostic dilemma that ultimately led to open cardiac surgery. The patient initially presented with progressive shortness of breath on exertion and fatigue, which suggested possible heart disease. This suspicion was reinforced by computed tomography (CT) imaging, which showed infiltrative mass lesions predominantly in the right side of the heart, invading the right coronary artery and IVC, with imaging features mimicking angiosarcoma. Although laboratory findings revealed an exudative effusion with lymphocyte predominance and elevated adenosine deaminase (ADA), the Gram stain was negative for bacteria, and an acid-fast bacilli (AFB) smear was also negative. These findings contributed to diagnostic uncertainty and delayed the confirmation of TB. Open surgery with excisional biopsy and histopathological analysis ultimately confirmed TB. We conclude that TB should not be ruled out solely based on negative Mycobacterium bacteria in pericardial effusion or AFB smear. TB can mimic aggressive tumors such as angiosarcoma or lymphoma with invasion of the surrounding tissues and blood vessels. Awareness of the clinical presentation, imaging findings, and potential diagnostic pitfalls of TB is essential, especially in endemic regions. Full article
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10 pages, 3851 KB  
Case Report
Secondary Prostate Lymphoma Mimicking Prostate Cancer Successfully Managed by Transurethral Resection to Relieve Urinary Retention
by Lorand-Tibor Reman, Ovidiu Malau, Daniel Porav-Hodade, Calin Chibelean, Arpad-Oliver Vida, Ciprian Todea, Veronica Ghirca, Alexandru Laslo, Raul-Dumitru Gherasim, Rares Vascul, Orsolya-Brigitta Katona, Raluca-Diana Hagău and Orsolya Martha
Pathophysiology 2025, 32(3), 38; https://doi.org/10.3390/pathophysiology32030038 - 2 Aug 2025
Viewed by 581
Abstract
Secondary lymphoma of the prostate is described as the involvement of the prostate gland by lymphomatous spread from a primary site. This condition is exceedingly rare and often presents diagnostic and therapeutic challenges. The symptoms often mimic those of benign prostatic hyperplasia or [...] Read more.
Secondary lymphoma of the prostate is described as the involvement of the prostate gland by lymphomatous spread from a primary site. This condition is exceedingly rare and often presents diagnostic and therapeutic challenges. The symptoms often mimic those of benign prostatic hyperplasia or prostate cancer, including LUTS (lower urinary tract symptoms) and even complete urinary retention. Here, we present a rare case of a 62-year-old male patient undergoing chemotherapy for stage IV mantle cell stomach lymphoma and subsequently secondary prostatic involvement. The patient presented with complete urinary retention, accompanied by biochemical (PSA = 11.7 ng/mL) and imaging (Magnetic Resonance Imaging-PIRADS V lesion) suspicion for prostate cancer. Histopathologic analysis of the MRI-targeted prostate fusion biopsy revealed secondary prostatic lymphoma. The chosen treatment was transurethral resection of the prostate (TUR-P) for relief of symptoms, which significantly improved urinary function (postoperative IPSS = 5 and Qmax = 17 mL/s). This case underscores the importance of considering prostatic lymphoma in the differential diagnosis of bladder outlet obstruction, especially in patients with a known lymphoma history. This report also provides a focused review of the literature on secondary prostatic lymphoma, highlighting the diagnostic challenges, treatment options, and clinical outcomes. Full article
(This article belongs to the Collection Feature Papers in Pathophysiology)
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24 pages, 31663 KB  
Review
The Many Faces of Intestinal Tumors in Adults, Including the Primary Role of CT Imaging in Emergencies and the Important Role of Cross-Sectional Imaging: A Pictorial Review
by Barbara Brogna, Francesca Maccioni, Dolores Sgambato, Fabiana Capuano, Lorenzo Iovine, Salvatore Guarino, Lorenzo Di Libero, Alfonso Amendola, Lorenzo Faggioni and Dania Cioni
Healthcare 2025, 13(9), 1071; https://doi.org/10.3390/healthcare13091071 - 6 May 2025
Viewed by 1202
Abstract
Background/Objectives: Small bowel tumors (SBTs) encompass a diverse range of tumor types, with benign tumors being the most prevalent. However, the incidence of malignant SBTs is increasing, particularly small bowel adenocarcinoma; this poses a diagnostic challenge for clinicians and radiologists due to the [...] Read more.
Background/Objectives: Small bowel tumors (SBTs) encompass a diverse range of tumor types, with benign tumors being the most prevalent. However, the incidence of malignant SBTs is increasing, particularly small bowel adenocarcinoma; this poses a diagnostic challenge for clinicians and radiologists due to the varied and nonspecific clinical and radiological presentations associated with SBTs. In fact, SBTs can present differently in emergencies, often mimicking inflammatory diseases or manifesting as complications such as intussusception, small bowel obstruction (SBO), intestinal ischemia, perforation, gastrointestinal bleeding, or metastatic disease. These tumors can remain asymptomatic for extended periods. Methods: We present a pictorial review on the role of imaging in evaluating SBTs, focusing on the emergency setting where diagnosis can be incidental. We also include some representative cases that may be useful for radiologists and residents in clinical practice. Results: Despite these challenges, contrast-enhanced computed tomography (CECT) is usually the best modality to use in emergencies for evaluating SBTs, and in some cases, a diagnosis can be made incidentally. However, when possible, multimodal imaging through cross-sectional imaging remains crucial for the non-invasive diagnosis of SBTs in stable patients, as endoscopic procedures may also be impractical. A complementary CT study with distension using negative oral contrast media, such as water, polyethylene glycol, or mannitol solutions, can improve the characterization of SBTs and rule out multiple SBT locations, particularly in small bowel neuroendocrine tumor (NET) and gastrointestinal tumor (GIST) localization. Positive water-soluble iodine-based oral contrast, such as Gastrografin (GGF), can be used to evaluate and monitor the intestinal lumen during the nonsurgical management of small bowel obstruction (SBO) or in suspected cases of small bowel perforations or the presence of fistulas. Magnetic resonance enterography (MRE) can aid in improving the characterization of SBTs through a multiplanar and multisequence study. Positron emission tomography combined with CT is generally an essential modality in evaluating metastatic disease and staging and assessing tumor prognosis, but it has limitations for indolent lymphoma and small NETs. Conclusions: Therefore, the integration of multiple imaging modalities can improve patient management and provide a preoperative risk assessment with prognostic and predictive indicators. In the future, radiomics could potentially serve as a “virtual biopsy” for SBTs, allowing for better diagnosis and more personalized management in precision medicine. Full article
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8 pages, 8834 KB  
Case Report
Refractory/Relapsed Classic Hodgkin Lymphoma Mimicking Disseminated Tuberculosis
by Mohamed Nazem Alibrahim, Hussein Hammam, Antonino Carbone, Noor Alsaleh and Annunziata Gloghini
Hemato 2025, 6(2), 12; https://doi.org/10.3390/hemato6020012 - 3 May 2025
Viewed by 5838
Abstract
Background/Objectives: Classic Hodgkin lymphoma (cHL) is a predominantly curable B-cell malignancy. However, primary refractory and relapsed (R/R) cHL remain therapeutic challenges, especially in regions with high tuberculosis (TB) prevalence, where clinical and radiologic features overlap and can obscure the correct diagnosis. This article, [...] Read more.
Background/Objectives: Classic Hodgkin lymphoma (cHL) is a predominantly curable B-cell malignancy. However, primary refractory and relapsed (R/R) cHL remain therapeutic challenges, especially in regions with high tuberculosis (TB) prevalence, where clinical and radiologic features overlap and can obscure the correct diagnosis. This article, presenting a case of R/R cHL mimicking disseminated TB, reviews the evolving paradigm in R/R cHL management. Methods: A 30-year-old Middle Eastern male with advanced nodular sclerosis cHL initially achieved a complete remission (CR) with escalated BEACOPP chemotherapy. Shortly afterward, he developed respiratory symptoms and diffuse miliary pulmonary nodules, highly suggestive of disseminated TB. Despite extensive negative TB workup, including QuantiFERON-TB Gold testing, sputum acid-fast bacilli (AFB) staining, and PCR, his imaging raised concern for recurrent cHL. Due to the small size and diffuse distribution of nodules, biopsy was unfeasible, prompting empiric salvage therapy with DEHAP-Carbo, brentuximab vedotin (BV), and nivolumab. Results: The rapid and robust metabolic response on PET/CT supported lymphoma relapse rather than TB. Following four cycles of this combined regimen, he proceeded to autologous stem cell transplantation and achieved a second CR. Conclusions: This case highlights the diagnostic difficulties in differentiating cHL relapse from TB in endemic regions, emphasizes the critical role of PET/CT in guiding therapy when histopathological confirmation is impractical, and illustrates the impact of novel immunotherapies in improving outcomes. By underscoring the importance of early diagnostic suspicion and multimodal assessment, this article also reviews the evolving paradigm in R/R cHL management, where personalized approaches and targeted agents increasingly complement or replace traditional chemotherapy regimens. Full article
(This article belongs to the Section Lymphomas)
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13 pages, 1385 KB  
Review
Malignant Syphilis Mimicking Lymphoma in HIV: A Challenging Case and a Review of Literature Focusing on the Role of HIV and Syphilis Coinfection
by Chiara Maci, Diana Canetti, Chiara Tassan Din, Elena Bruzzesi, Maria Francesca Lucente, Flavia Badalucco Ciotta, Caterina Candela, Maurilio Ponzoni, Antonella Castagna and Silvia Nozza
Microorganisms 2025, 13(5), 968; https://doi.org/10.3390/microorganisms13050968 - 24 Apr 2025
Cited by 1 | Viewed by 1214
Abstract
The rate of reported syphilis cases is increasing worldwide, particularly among men who have sex with men. In this scenario, malignant syphilis is a rare, severe form of secondary syphilis, typically observed in immunocompromised individuals and characterized by rupioid skin lesions, together with [...] Read more.
The rate of reported syphilis cases is increasing worldwide, particularly among men who have sex with men. In this scenario, malignant syphilis is a rare, severe form of secondary syphilis, typically observed in immunocompromised individuals and characterized by rupioid skin lesions, together with systemic symptoms that could lead to potentially life-threatening complications. We report the complex case of a 42-year-old man, previously diagnosed with HIV infection, presenting with a five-day history of fever and multiple lymphadenopathies. His immunovirological status was well controlled, and he was fully adherent to antiretroviral therapy. His clinical presentation was severe and ambiguous, with neurological involvement being progressively excluded. The diagnosis was confirmed by serological tests, while histopathological examination of an excised lymph node revealed disrupted architecture with multiple granulomas. Differential diagnosis, including lymphoma and other potential etiologies, was performed. After completion of antibiotic therapy, clinical symptoms completely resolved. No Jarisch–Herxheimer reaction occurred. We also provide an updated review of the current literature, with a focus on HIV coinfection, which is frequently associated with the development of malignant syphilis, and discuss the need for enhanced interventions to prevent sexually transmitted infections, as well as the importance of judicious use of doxycycline post-exposure prophylaxis. Full article
(This article belongs to the Collection Feature Papers in Medical Microbiology)
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24 pages, 2160 KB  
Review
In Vitro 3D Models of Haematological Malignancies: Current Trends and the Road Ahead?
by Carlotta Mattioda, Claudia Voena, Gianluca Ciardelli and Clara Mattu
Cells 2025, 14(1), 38; https://doi.org/10.3390/cells14010038 - 2 Jan 2025
Cited by 3 | Viewed by 3094
Abstract
Haematological malignancies comprise a diverse group of life-threatening systemic diseases, including leukaemia, lymphoma, and multiple myeloma. Currently available therapies, including chemotherapy, immunotherapy, and CAR-T cells, are often associated with important side effects and with the development of drug resistance and, consequently, disease relapse. [...] Read more.
Haematological malignancies comprise a diverse group of life-threatening systemic diseases, including leukaemia, lymphoma, and multiple myeloma. Currently available therapies, including chemotherapy, immunotherapy, and CAR-T cells, are often associated with important side effects and with the development of drug resistance and, consequently, disease relapse. In the last decades, it was largely demonstrated that the tumor microenvironment significantly affects cancer cell proliferation and tumor response to treatment. The development of biomimetic, in vitro models may promote the investigation of the interactions between cancer cells and the tumor microenvironment and may help to better understand the mechanisms leading to drug resistance. Although advanced in vitro models have been largely explored in the field of solid tumors, due to the complex nature of the blood cancer tumor microenvironment, the mimicking of haematological malignancies mostly relies on simpler systems, often limited to two-dimensional cell culture, which intrinsically excludes the microenvironmental niche, or to ethically debated animal models. This review aims at reporting an updated overview of state-of-the-art hematological malignancies 3D in vitro models, emphasizing the key features and limitations of existing systems to inspire further research in this underexplored field. Full article
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14 pages, 4430 KB  
Article
Development of Hemispherical 3D Models of Human Brain and B Cell Lymphomas Using On-Chip Cell Dome System
by Ryotaro Kazama, Rina Ishikawa and Shinji Sakai
Bioengineering 2024, 11(12), 1303; https://doi.org/10.3390/bioengineering11121303 - 23 Dec 2024
Cited by 1 | Viewed by 1203
Abstract
Lymphocytes are generally non-adherent. This makes it challenging to fabricate three-dimensional (3D) structures mimicking the three-dimensional lymphoma microenvironment in vivo. This study presents the fabrication of a hemispherical 3D lymphoma model using the on-chip Cell Dome system with a hemispherical cavity (1 mm [...] Read more.
Lymphocytes are generally non-adherent. This makes it challenging to fabricate three-dimensional (3D) structures mimicking the three-dimensional lymphoma microenvironment in vivo. This study presents the fabrication of a hemispherical 3D lymphoma model using the on-chip Cell Dome system with a hemispherical cavity (1 mm in diameter and almost 300 µm in height). Both the human brain lymphoma cell line (TK) and human B cell lymphoma cell line (KML-1) proliferated and filled the cavities. Hypoxic regions were observed in the center of the hemispherical structures. CD19 expression did not change in either cell line, while CD20 expression was slightly upregulated in TK cells and downregulated in KML-1 cells cultured in the Cell Dome compared to those cultured in two-dimensional (2D) flasks. In addition, both TK and KML-1 cells in the hemispherical structures exhibited higher resistance to doxorubicin than those in 2D flasks. These results demonstrate the effectiveness of the on-chip Cell Dome for fabricating 3D lymphoma models and provide valuable insights into the study of lymphoma behavior and the development of new drugs for lymphoma treatment. Full article
(This article belongs to the Special Issue Advances on Cancer-on-Chip Models)
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4 pages, 3896 KB  
Interesting Images
Abdominal B-Cell Lymphoma Mimicking Ovarian Cancer
by Dennis Jung, Lina Judit Schiestl, Simin Schadmand-Fischer, Arno Schad, Annette Hasenburg and Roxana Schwab
Diagnostics 2024, 14(21), 2449; https://doi.org/10.3390/diagnostics14212449 - 31 Oct 2024
Cited by 1 | Viewed by 1111
Abstract
A 54-year-old patient presented in our clinic with pressure in the upper abdomen, dyspnea and abdominal distension. The clinical examination showed pleural effusion, ascites and an enlarged axillary lymph node on the right side. In gynecological sonography ascites, an ovarian cyst and peritoneal [...] Read more.
A 54-year-old patient presented in our clinic with pressure in the upper abdomen, dyspnea and abdominal distension. The clinical examination showed pleural effusion, ascites and an enlarged axillary lymph node on the right side. In gynecological sonography ascites, an ovarian cyst and peritoneal carcinosis in the pouch of Douglas were detected, which were potentially indicative of ovarian cancer. A staging laparoscopy was performed to confirm the diagnosis of ovarian cancer and to evaluate operability. Intraoperatively white milky ascites, white-yellow marbling of the liver and white stipple bedding on the diaphragm and liver were detected. The ovaries and the fallopian tubes were tumorously enlarged. Biopsies were taken from the right fimbrial funnel, the liver around the falciform ligament and the diaphragm. Histology of all abdominal biopsies and the axillary lymph node revealed high lymphatic infiltration matching a stage III B-cell-lymphoma. The patient was transferred to the hemato-oncological department for further therapy. Six cycles of cytostatic therapy with R-CHOP (rituximab, cyclophosphamide, hydroxydaunorubicin, vincristine sulfate, prednisone) were initiated. The patient is doing well and in stable disease 6 months after completion of cytotoxic therapy. This case report presents a rare case of manifestation of an extra nodal B-cell-lymphoma with abdominal presentation that mimicked ovarian cancer. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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15 pages, 12589 KB  
Article
Non-Invasive Imaging Including Line-Field Confocal Optical Coherence Tomography (LC-OCT) for Diagnosis of Cutaneous Lymphomas
by Martina D’Onghia, Maria Mendonça-Sanches, Maria Erasti, Alessandra Cartocci, Laura Calabrese, Azzurra Sirchio, Linda Tognetti, Anastasia Batsikosta, Stefano Lazzi, Mariano Suppa, Simone Soglia, Josep Malvehy, Javiera Perez-Anker, Emanuele Cencini, Alberto Fabbri, Pietro Rubegni and Elisa Cinotti
Cancers 2024, 16(21), 3608; https://doi.org/10.3390/cancers16213608 - 25 Oct 2024
Viewed by 13689
Abstract
Background/Objectives: Primary cutaneous lymphomas (PCL) are a heterogeneous group of non-Hodgkin lymphomas arising from malignant T (CTCL) or B (CBCL) cells, often mimicking other skin conditions. Recently, non-invasive diagnostic imaging modalities, including dermoscopy, Reflectance Confocal Microscopy (RCM), and Line-field Optical Coherence Tomography (LC-OCT), [...] Read more.
Background/Objectives: Primary cutaneous lymphomas (PCL) are a heterogeneous group of non-Hodgkin lymphomas arising from malignant T (CTCL) or B (CBCL) cells, often mimicking other skin conditions. Recently, non-invasive diagnostic imaging modalities, including dermoscopy, Reflectance Confocal Microscopy (RCM), and Line-field Optical Coherence Tomography (LC-OCT), have become increasingly important, supporting clinicians in clinical practice. Hence, our study aimed to describe dermoscopic, RCM, and LC-OCT features of PCL and to explore their role in PCL management. Methods: Between December 2022 and January 2024, 40 lesions of 25 patients with PCL were retrospectively analyzed at the Dermatologic Unit of the University of Siena, Italy. Predefined dermoscopic, LC-OCT, and RCM criteria were assessed and their frequencies were calculated. Results: At dermoscopy, CTCL lesions were characterized by pinkish structureless areas (58,6%) and homogeneous distributed dotted vessels (35,7%), whereas 57.1% of CBCL presented with orange-yellow structureless areas. Considering CTCL, lymphocytes in the epidermis, dermal-epidermal junction, and dermis were detected by LC-OCT in 73.1%, 66.7%, and 51.9% and by RCM in 72.2%, 55.6%, and 61.1% of cases, respectively. The detection of lymphocytes was more precise using RCM than LC-OCT in CTCL (p < 0.001). Dermal infiltration of medium-reflective cells was visible in 80% and 40% of CBCL cases by LC-OCT and RCM, respectively. Conclusions: Non-invasive imaging techniques may support clinicians in managing PCL; however, further studies are mandatory in this field. Full article
(This article belongs to the Special Issue Cutaneous Lymphoma)
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30 pages, 24413 KB  
Conference Report
Lymphadenitis/Reactive-Hyperplasia, Mimickers of Lymphomas, Low-Grade B-Cell Lymphomas, and Hodgkin Lymphoma
by A. Nicolae, E. Sabattini, M. Ponzoni, M. Paulli, M. Lucioni, T. Salviato and A. Carbone
Hemato 2024, 5(3), 350-379; https://doi.org/10.3390/hemato5030026 - 20 Sep 2024
Cited by 1 | Viewed by 7098
Abstract
A two-day meeting on controversial topics in hematopathology was held in Bologna, Italy, on 19–20 January 2024. The meeting primarily targeted pathologists lacking experience in hematological neoplasms and pathologists in training. The course aimed to highlight practical diagnostic challenges faced by pathologists and [...] Read more.
A two-day meeting on controversial topics in hematopathology was held in Bologna, Italy, on 19–20 January 2024. The meeting primarily targeted pathologists lacking experience in hematological neoplasms and pathologists in training. The course aimed to highlight practical diagnostic challenges faced by pathologists and discuss solutions through the application of conventional histology, along with appropriate immunohistological, genetic, and molecular findings. The teaching program included lectures and slide seminars presented by a team of expert hematopathologists who were co-authors of the WHO classification of hematolymphoid tumors. Special interest revolved around “lymphadenitis and lymphoma mimickers”, “a rational approach to low-grade B-cell lymphomas”, and “advancements in defining Hodgkin lymphoma”. A key aspect emphasized by the faculty team was the use of the fifth edition of the WHO Bluebook and the International Consensus Classification (ICC 2022) of lymphomas. Full article
(This article belongs to the Section Lymphomas)
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15 pages, 3149 KB  
Systematic Review
Primary Cauda Equina Lymphoma Mimicking Meningioma
by Pierfrancesco Lapolla, Vincenza Maiola, Pietro Familiari, Gabriella Tomei, Dominella Gangemi, Sara Ienzi, Roberto Arcese, Mauro Palmieri, Michela Relucenti, Andrea Mingoli, Gioia Brachini, Stefania Annarita Nottola, Giancarlo D’Andrea, Biagia La Pira and Placido Bruzzaniti
J. Clin. Med. 2024, 13(16), 4959; https://doi.org/10.3390/jcm13164959 - 22 Aug 2024
Viewed by 2058
Abstract
Background: Spinal cord lymphomas represent a minority of extranodal lymphomas and often pose diagnostic challenges by imitating primary spinal tumors or inflammatory/infective lesions. This paper presents a unique case of primary cauda equina lymphoma (PCEL) and conducts a comprehensive review to delineate [...] Read more.
Background: Spinal cord lymphomas represent a minority of extranodal lymphomas and often pose diagnostic challenges by imitating primary spinal tumors or inflammatory/infective lesions. This paper presents a unique case of primary cauda equina lymphoma (PCEL) and conducts a comprehensive review to delineate the clinical and radiological characteristics of this rare entity. Case Report: A 74-year-old male presented with progressive paresthesia, motor weakness, and symptoms indicative of cauda equina syndrome. Neurological examination revealed paraparesis and sphincter dysfunction. Imaging studies initially suggested an intradural meningioma. However, surgical intervention revealed a diffuse large B-cell lymphoma infiltrating the cauda equina. Findings: A systematic review of the pertinent literature identified 18 primary cauda equina lymphoma cases. These cases exhibited diverse clinical presentations, treatments, and outcomes. The mean age at diagnosis was 61.25 years for women and 50 years for men, with an average follow-up of 16.2 months. Notably, 35% of patients were alive at 18 months, highlighting the challenging prognosis associated with PCEL. Discussion: Primary spinal cord lymphomas, especially within the cauda equina, remain rare and diagnostically complex due to their nonspecific clinical manifestations. The review highlights the need to consider spinal cord lymphoma in patients with neurological symptoms, even without a history of systemic lymphoma. Diagnostic Approaches: Magnetic resonance imaging (MRI) serves as the primary diagnostic tool but lacks specificity. Histopathological examination remains the gold standard for definitive diagnosis. The review underscores the importance of timely biopsy in suspected cases to facilitate accurate diagnosis and appropriate management. Management and Prognosis: Current management involves biopsy and chemotherapy; however, optimal treatment strategies remain ambiguous due to the rarity of PCEL. Despite aggressive therapeutic interventions, prognosis remains poor, emphasizing the urgency for enhanced diagnostic and treatment modalities. Conclusions: Primary cauda equina lymphoma poses diagnostic and therapeutic challenges, necessitating a high index of suspicion in patients with atypical spinal cord symptoms. Collaborative efforts between neurosurgical, oncological, and infectious diseases teams are imperative for timely diagnosis and management. Advancements in diagnostic precision and therapeutic options are crucial for improving patient outcomes. Full article
(This article belongs to the Section Hematology)
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10 pages, 5608 KB  
Case Report
NSD3::NUTM1 Fusion Sarcoma Mimicking Malignant Peripheral Nerve Sheath Tumor with Prolonged Survival
by Jing Di, Ali M. Alhaidary, Chi Wang, Jinge Liu, Sainan Wei, Joseph Valentino and Therese J. Bocklage
Biomedicines 2024, 12(8), 1709; https://doi.org/10.3390/biomedicines12081709 - 1 Aug 2024
Cited by 2 | Viewed by 2180
Abstract
Nuclear Protein in Testis (NUT)-rearranged tumors comprise predominantly NUT carcinoma but also include certain lymphomas, leukemias, skin appendage tumors, and sarcomas. Although histologically diverse, all are genetically identified by oncogenic rearrangement in the NUTM1 gene. Many fusion partners occur, and NSD3 is NUT [...] Read more.
Nuclear Protein in Testis (NUT)-rearranged tumors comprise predominantly NUT carcinoma but also include certain lymphomas, leukemias, skin appendage tumors, and sarcomas. Although histologically diverse, all are genetically identified by oncogenic rearrangement in the NUTM1 gene. Many fusion partners occur, and NSD3 is NUT carcinoma’s third most common partner. Herein, we present a case of a 26-year-old man with an NSD3::NUTM1 fusion sarcoma. The patient presented at the age of 13 months with a scalp nodule. Over the next 24 years, he experienced five local recurrences and ultimately expired of a rapidly progressive recurrence. His treatment included surgical resections, radiation, and various chemotherapies. Deceptively, the clinical presentation and histopathology aligned with a malignant peripheral nerve sheath tumor, a diagnosis rendered at initial resection with concurrence by a national soft tissue tumor expert. The patient’s exceptionally long survival could be due to NSD3 as the fusion partner, aided by the initial small tumor size and young patient age. Thus, this case expands NUT fusion sarcomas’ histologic and immunohistochemical profile to include mimicking a malignant peripheral nerve sheath tumor (MPNST). Additionally, it indicates that the NSD3::NUTM1 fusion can drive sarcoma genesis. Full article
(This article belongs to the Special Issue Molecular Biomarkers of Tumors: Advancing Genetic Studies)
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9 pages, 14615 KB  
Case Report
EBV-Positive Nodal T- and NK-Cell Lymphoma Mimicking Anaplastic Large Cell Lymphoma: A Case Report
by Brooj Abro, Pamela Allen, Saja Asakrah, Kyle Bradley and Linsheng Zhang
Hematol. Rep. 2024, 16(2), 308-316; https://doi.org/10.3390/hematolrep16020031 - 23 May 2024
Viewed by 2236
Abstract
EBV-positive nodal T- and NK-cell lymphoma (EBV+ NT/NKCL) is a recently recognized entity in the 5th edition of the WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues. Notably, CD30 positivity is frequently observed in (EBV+ NT/NKCL), creating diagnostic challenges to distinguish it [...] Read more.
EBV-positive nodal T- and NK-cell lymphoma (EBV+ NT/NKCL) is a recently recognized entity in the 5th edition of the WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues. Notably, CD30 positivity is frequently observed in (EBV+ NT/NKCL), creating diagnostic challenges to distinguish it from ALK-negative anaplastic large cell lymphoma (ALCL). Furthermore, cases of EBV+ ALCL have been documented in the literature, predating the inclusion of EBV+ nodal cytotoxic T-cell lymphoma as a variant of peripheral T-cell lymphoma. We present a case of a 47-year-old male presenting with multiple lymphadenopathies. The histomorphologic and immunophenotypic features of the lymph node closely resemble ALK-negative ALCL, characterized by uniform CD30 expression and a subcapsular distribution of lymphoma cells. However, the lymphoma cells exhibit diffuse positivity for EBV, consistent with EBV+ NT/NKCL. A case of ALK-negative ALCL with an immunophenotype identical to the EBV-positive case is included for comparison. Given that EBV+ NT/NKCL represents an aggressive neoplasm requiring unique clinical management compared to ALK-negative ALCL, it is critical to accurately differentiate EBV+ NT/NKCL from ALK-negative ALCL with a cytotoxic T-cell immunophenotype. Full article
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3 pages, 520 KB  
Interesting Images
Mind the Pitfall: Solitary Nodular Fasciitis Mimicking Extra-Nodal Manifestation of Hodgkin Lymphoma on [18F]FDG PET/CT
by Suginthan Markandu, Arne Blickle, Caroline Burgard, Marc Remke, Katrin Altmeyer, Mathias Wagner, Samer Ezziddin and Florian Rosar
Diagnostics 2024, 14(8), 783; https://doi.org/10.3390/diagnostics14080783 - 9 Apr 2024
Cited by 1 | Viewed by 1235
Abstract
We report a [18F]fluorodeoxyglucose positron emission tomography/computed tomography ([18F]FDG PET/CT) scan of a 17-year-old male presenting increased focal glucose metabolism of a histologically proven solitary nodular fasciitis mimicking an extranodal manifestation of Hodgkin lymphoma. This interesting image should draw [...] Read more.
We report a [18F]fluorodeoxyglucose positron emission tomography/computed tomography ([18F]FDG PET/CT) scan of a 17-year-old male presenting increased focal glucose metabolism of a histologically proven solitary nodular fasciitis mimicking an extranodal manifestation of Hodgkin lymphoma. This interesting image should draw attention to considering nodular fasciitis as a possible pitfall in the staging of malignant diseases. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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