Differential Diagnosis Research Articles

MRI of Soft-Tissue Tumors: What to Include in the Report.

MRI serves as a critical step in the workup, local staging, and treatment planning of extremity soft-tissue masses. For the radiologist to meaningfully contribute to the management of soft-tissue masses, they need to provide a detailed list of descriptors of the lesion outlined in an organized report. While it is occasionally possible to use MRI to provide a diagnosis for patients with a mass, it is more often used to help with determining the differential diagnosis and planning of biopsies, surgery, radiation treatment, and chemotherapy (when provided). Each descriptor on the list outlined in this article is specifically aimed to assist in one or more facets of the overall approach to soft-tissue masses. This applies to all masses, but in particular sarcomas. Those descriptors are useful to help narrow the differential diagnosis and ensure concordance with a pathologic diagnosis and its accompanying grade assignment of soft-tissue sarcomas. These include a lesion's borders and shape, signal characteristics, and contrast enhancement pattern; the presence of peritumoral edema and peritumoral enhancement; and the presence of lymph nodes. The items most helpful in assisting surgical planning include a lesion's anatomic location, site of origin, size, location relative to a landmark, relationship to adjacent structures, and vascularity including feeding and draining vessels. The authors provide some background information on soft-tissue sarcomas, including their diagnosis and treatment, for the general radiologist and as a refresher for radiologists who are more experienced in tumor imaging. ©RSNA, 2024 See the invited commentary by Murphey in this issue.

Infantile Hemangioma with Minimal or Arrested Growth: Different Clinical Presentations in a Retrospective Case Series

Objectives: Infantile hemangioma with minimal or arrested growth (IHMAG) has been established as a subtype of infantile hemangioma (IH) due to positive glucose transporter-1 staining; however, it is clinically differentiated by a proliferative component of <25% of its total surface area. IHMAG can be misdiagnosed as a capillary malformation, an IH precursor, a noninvoluting congenital hemangioma, or an arteriovenous malformation among others. In this case series, we aim to further illustrate the various clinical characteristics of IHMAG and the features that distinguish this unique entity from the other vascular entities. It is important to recognize the differentiating characteristics to avoid unnecessary evaluation and provide patients with the appropriate management plan. Methods: A retrospective chart review approved by the University of Rochester Medical Center Institutional Review Board was performed from January 2014 to December 2020, with the search terms: “infantile hemangioma with arrested or minimal growth,” “IHMAG” and “abortive hemangioma.” In total, 29 IHMAGs were identified in 27 patients. Charts were reviewed for demographic and clinical characteristics as well as workup, response to treatment, and outcomes. Results: In total, we identified 29 IHMAGs in 27 patients. Female to male ratio was 2:1. Average gestational age was 40 weeks. Lesions were present at birth in 22/27 patients. Out of the 29 IHMAGs, 18 were focal (62%) and 11 were segmental (38%). In most patients, skin examination revealed fine telangiectatic patches with focal areas of bright red papules. Out of 29 IHMAGs, 20 involved the lower body and 18 were focal, whereas 11 were segmental. PHACES syndrome (posterior fossa anomalies, infantile hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and midline skin defects) was identified in 2 of 2 patients with facial segmental IHMAGs. LUMBAR syndrome (lower body infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) was ruled out in 2 of 2 patients with extensive IHMAGs involving the sacral area. Semicircular lipoatrophy was seen in 1 patient with segmental circumferential IHMAG of the leg. Ultrasonography was the most used modality. Out of 27 infants, 18 were treated with topical timolol, 4 were treated with oral propranolol, and 2 patients were treated with a combination of both. Conclusion: Trends of the epidemiologic, clinical, and prognostic data of our 27 cases are in concordance with prior reports on IHMAG, further consolidating our understanding of this peculiar entity. IHMAG typically presents as a telangiectatic pink to violaceous patch present at birth in term newborns predominantly involving the lower half of the body. It is important to keep a high index of suspicion for the other vascular anomalies in the differential diagnosis. A segmental IHMAG should prompt providers to screen for associated syndromes such as PHACES and LUMBAR. Additional studies are warranted to better elucidate the pathogenesis of IHMAG and its associated anomalies. Level of evidence: Original report (case series).

Diagnosis and Treatment of Spontaneous Intracranial Hypotension: Role of Epidural Blood Patching.

This review focuses on the challenges of diagnosing and treating spontaneous intracranial hypotension (SIH), a condition caused by spinal CSF leakage. It emphasizes the need for increased awareness and advocates for early and thoughtful use of empirical epidural blood patches (EBPs) in suspected cases. SIH diagnosis is hindered by variable symptoms and inconsistent imaging results, including normal brain MRI and unreliable spinal opening pressures. It is crucial to consider SIH in differential diagnoses, especially in patients with connective tissue disorders. Early EBP intervention is shown to improve outcomes. SIH remains underdiagnosed and undertreated, requiring heightened awareness and understanding. This review promotes proactive EBP use in managing suspected SIH and calls for continued research to advance diagnostic and treatment methods, emphasizing the need for innovative imaging techniques for accurate diagnosis and timely intervention.

Pediatric Neurotrophic Tyrosine Receptor Kinase-rearranged Neoplasm Resembling a Vascular Malformation

Pediatric neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms are soft tissue neoplasms whose behaviors are not well understood. We provide a case presentation of such a tumor sharing features of a vascular malformation. Our patient is an 11-year-old female referred for a lesion clinically and radiologically concerning for a vascular tumor or malformation. Upon excision, next-generation sequencing revealed a laminA-neurotrophic tyrosine receptor kinase 1 fusion. Neurotrophic tyrosine receptor kinase-rearranged spindle cell neoplasms represent an emerging entity in children now being diagnosed with a variety of techniques including immunohistochemistry, fluorescence in situ hybridization, and next-generation sequencing. Consideration for this tumor should be in the differential diagnosis of vascular skin lesions with unusual features on physical examination.

Characteristics and quality of clinical practice guidelines for diabetic kidney disease: a systematic review.

To assess the quality of Clinical practice guidelines (CPGs) in the context of diabetic kidney disease (DKD) and determine whether any factors affect the quality. We searched eight databases along with five international and national organizations to develop or archive guidelines from their inception to July 2023, with an additional search of medlive.cn. And the authoritative organizations related to nephrology. CPGs and consensus statements created using direct differential diagnosis or therapy for DKD were included without language restrictions. Their quality was evaluated by four reviewers using the Appraisal of Guidelines for Research and Evaluation Ⅱ (AGREE Ⅱ) instrument. Along with the item and domain scores, the guideline was also allocated an overall quality score, which ranged from 1 (lowest possible quality) to 7 (highest possible quality). Moreover, an overall recommendation for use was also assigned ("recommended", "recommended with modifications" or "not recommended"). A total of 16 CPGs were included, of which 14 were from Asia and the remaining two from Europe. These two CPGs were updated in the third version. Six CPGs were recommended for use because their primary domains scored in the medium or high category. Furthermore, five CPGs were recommended with modifications as the stakeholder involvement, applicability, and editorial independence domains were evaluated as low categories. In all domains, the lowest average score was for rigour of development (33%), followed by application (36%), and stakeholder involvement (51%). The highest average score was for scope and purpose (79%), followed by clarity of presentation (75%). None of the CPGs considered the patient's viewpoint, and six of 16 CPGs did not use any grading system to translate the evidence into recommendations. Additionally, only three of 16 CPGs shared search strategy, and eight of 16 CPGs did not declare a funding source. According to the AGREE II evaluation, more than one in four CPGs for DKD had poor methodological quality. Enhanced efforts are needed to advance the rigour of development, application, and editorial independence of DKD guideline panels for most guidelines. Stakeholders, CPG developers, and CPG users should consider methodological quality while choosing CPGs, and interpret and implement their issued suggestions.

Oculomics: A Crusade Against the Four Horsemen of Chronic Disease.

Chronic, non-communicable diseases present a major barrier to living a long and healthy life. In many cases, early diagnosis can facilitate prevention, monitoring, and treatment efforts, improving patient outcomes. There is therefore a critical need to make screening techniques as accessible, unintimidating, and cost-effective as possible. The association between ocular biomarkers and systemic health and disease (oculomics) presents an attractive opportunity for detection of systemic diseases, as ophthalmic techniques are often relatively low-cost, fast, and non-invasive. In this review, we highlight the key associations between structural biomarkers in the eye and the four globally leading causes of morbidity and mortality: cardiovascular disease, cancer, neurodegenerative disease, and metabolic disease. We observe that neurodegenerative disease is a particularly promising target for oculomics, with biomarkers detected in multiple ocular structures. Cardiovascular disease biomarkers are present in the choroid, retinal vasculature, and retinal nerve fiber layer, and metabolic disease biomarkers are present in the eyelid, tear fluid, lens, and retinal vasculature. In contrast, only the tear fluid emerged as a promising ocular target for the detection of cancer. The retina is a rich source of oculomics data, the analysis of which has been enhanced by artificial intelligence-based tools. Although not all biomarkers are disease-specific, limiting their current diagnostic utility, future oculomics research will likely benefit from combining data from various structures to improve specificity, as well as active design, development, and optimization of instruments that target specific disease signatures, thus facilitating differential diagnoses.

Utilizing CT scan for Differential Diagnosis of Acute Abdominal Pain: A Retrospective Descriptive Study in King Khalid Hospital, Najran Province

Utilizing CT scan for Differential Diagnosis of Acute Abdominal Pain: A Retrospective Descriptive Study in King Khalid Hospital, Najran Province

Common and Uncommon Mimics of Thoracic Malignancy on PET/CT: Part 2—Pearls and Pitfalls of Lung Parenchyma and Mediastinum

In the thorax, there are multiple benign entities that may demonstrate hypermetabolism of fluorodeoxyglucose (FDG) leading to false-positive interpretation. Part 2 of this article aims to provide an overview of some benign thoracic entities that may mimic malignancy on positron emission tomography (PET)/CT in the lung parenchyma and mediastinum. Clinical history, anatomical correlation, and imaging features can help in narrowing the differential diagnosis. This review is divided into two parts: part 1 covers the pleura and chest wall; part 2 will cover lung parenchyma and mediastinum.

Imaging characteristics and diagnosis of primary middle mediastinal tumors

Objectives: To investigate the proportion of different histological types and CT enhanced imaging features of primary middle mediastinal lesions in order to improve the understanding of these tumors and the accuracy of preoperative diagnosis. Methods: Retrospective analysis was conducted on 84 patients with primary middle mediastinal lesions and clear histological classifications diagnosed and treated at the Cancer Hospital, Chinese Academy of Medical Sciences from January 2012 to December 2022. Clinical, imaging, and pathological data were collected and classified according to tumor histological classifications. CT imaging manifestations such as tumor location, size, morphology, edge, boundary, internal components, enhancement characteristics, and surrounding tissue invasion were evaluated and recorded. Results: The histological types of the primary middle mediastinal lesions from the 84 patients included mesenchymal tumors, anterior intestinal cysts, giant lymph node hyperplasia, substernal goiter, neuroendocrine carcinoma, lymphohematopoietic system tumors, and mesothelioma, accounting for 28.6%, 27.4%, 14.3%, 3.6%, 11.9%, 9.5%, and 4.8%, respectively. Mesenchymal tumors included peripheral nerve sheath tumors, vascular tumors, adipogenic tumors, solitary fibrous tumors, and synovial sarcoma, accounting for 54.2%, 20.8%, 12.5%, 8.3%, and 4.2%, respectively. The above tumors had diverse imaging manifestations and specific imaging features. Mature fat were found in 3 cases of liposarcoma; Calcification was observed in 2 cases of thyroid nodules and 7 cases of giant lymph node hyperplasia; Enhanced scanning showed significant enhancement in 2 cases of solitary fibrous tumors, 3 cases of thyroid nodules, and 11 cases of giant lymph node hyperplasia; Mediastinal large lymph nodes was observed in 6 cases of lymphoma and 3 cases of mesothelioma; High invasiveness was observed in 4 cases of mesothelioma and 9 cases of neuroendocrine carcinoma. Conclusion: Mediastinal tumors have low incidence rate and rich histological types, and their imaging manifestations are diverse. Preoperative differential diagnosis can be made according to their specific imaging characteristics.

Cytology of a seminoma in a koi (Cyprinus carpio): a rapid diagnostic tool.

Koi(Cyprinus carpio) is an ornamental variety of common carp frequently kept as pets. Given their long lifespan, neoplasia, albeit uncommon, may occur in these animals, and only a few studies have faced their cytological diagnosis. In the present case, a koi carp was referred to the clinicians due to coelomic swelling. The carp underwent surgery, which revealed an enlargement of both testes. Testicular samples were cytologically and histologically examined. The lesion was diagnosed as a seminoma since it was composed of round, large, atypical, and often multinucleated cells with round central nuclei and moderate cytoplasm. These tumors had the same appearance as seminomas in mammals and should be considered among differential diagnoses when coelomic swelling occurs in koi carp. Seminomas in koi carp are diagnosed histologically, but cytology, a rapid and cheap exam executable in all veterinary clinical facilities, could be a relevant preliminary diagnostic tool that may influence the entire diagnostic process.

Immunoglobulin G4-Related Disease Affecting the Tonsil: Case Report and Literature Review

Immunoglobulin G4-related disease (IgG4-RD) can involve multiple sites throughout the body. The most commonly affected sites in the head and neck are the salivary and lacrimal glands, respectively. Very few cases of IgG4-RD manifesting in the tonsils have been reported. Herein, we report the imaging findings of a 49-year-old female with pathologically confirmed IgG4-RD after a right-side tonsillectomy. The lesion showed diffuse homogeneous enhancement and appeared isointense and slightly hyperintense on T1- and T2-weighted magnetic resonance imaging, respectively. Diffusion restriction was also observed, which was considered to be due to the large number of IgG4-rich plasmacytes, and could vary depending on the degree of fibrosis. As distinguishing IgG4-RD from other diseases based solely on imaging is challenging, it is important to consider differential diagnosis, and clinical considerations are essential.

Heritable pulmonary arterial hypertension

Heritable pulmonary arterial hypertension (PAH) can be triggered by at least 18genes. The most frequently altered gene is the bone morphogenetic protein receptor2 (BMPR2). Further genes from the same pathway are also well known PAH-causing genes. Genetic testing can aid to confirm differential diagnoses such as apulmonary veno-occlusive disease. It also enables the testing of healthy family members. In addition to the PAH patient population particularly served by genetic testing, this article touches on the mode of inheritance and provides insights into the first treatments soon on the market that rebalance the BMPR2 signaling pathway.

The Italian adaptation of the Mini-SIPS, a tool for early detection of individuals at clinical high risk and first episode of psychosis: A preliminary study of implementation in an Italian FEP program.

The study aims are to present the Italian adaptation of the Abbreviated Clinical Structured Interview for DSM-5 Attenuated Psychosis Syndrome (Mini-SIPS) and illustrate its implementation in a clinical setting. The Mini-SIPS was developed from the original extended version as a tool designed to identify, within the clinical high risk (CHR) framework, the DSM-5 Attenuated Psychosis Syndrome (APS) and to be implemented in clinical settings. The Mini-SIPS was translated in Italian by a Yale-certified SIPS trainer, then back-translated in English by a trained psychologist, then approved by the Mini-SIPS authors. Since September 2021, the adapted Italian version of the Mini-SIPS has been implemented at the First Episode Psychosis (FEP) Program in Ferrara, Italy. The Italian version of Mini-SIPS was successfully administered to 15 individuals subsequently referred to the First Episode Psychosis service in Ferrara. Within this sample, the tool has proven to be both an effective and efficient tool for the identification of CHR and FEP, and a valid instrument to help with the differential diagnosis. It also performed as a valuable guide for retrieving information about psychiatric history, to date the onset of APS and/or full-blown psychosis, to track the progression from CHR to psychosis or to symptoms resolution and to describe patients' pathways to care. The Mini-SIPS is an efficient and easy-to-use interview to identify the early stages of psychosis and established psychosis in clinical contexts. The Italian adaptation of this interview could be effectively implemented in other Italian FEP Programs as a screening and monitoring tool. Formal validation of the instrument is needed to assessed validity and reliability in the diagnosis of the CHR and FEP.

DIFFERENTIAL DIAGNOSIS OF TUBERCULOSIS AND NON-SPECIFIC PULMONARY INFILTRATS (Lecture)

Following the reformation of healthcare system and the dissolution of the specialty "Phthisiology," the extensive anti-tuberculosis efforts in Ukraine now fall under the purview of family doctors and specialists across various fields. According to the Law of Ukraine “On Overcoming Tuberculosis in Ukraine”, enacted on 14.07.2023 under No. 3269-IX, Paragraph 4 (Article 4), individuals afflicted with tuberculosis or latent tuberculosis infection are entitled to specialized medical care. This includes the treatment of all forms of tuberculosis and associated conditions across a spectrum of healthcare institutions. Compliance with this legal mandate necessitates that doctors of various specialties possess not only proficiency in contemporary tuberculosis treatment methods, which will be facilitated by the regional tuberculosis control center, but also competence in diagnosing tuberculosis in its various presentations. When health issues arise, patients typically seek assistance first from primary care specialists. The “Pulmonary infiltrate syndrome” is an X-ray syndrome characterized by the presence of shadows in the lungs exceeding 1 cm in diameter. There are numerous causes for such changes in the lungs. Given that the lungs are the most common site for tuberculosis, particularly in the form of infiltrative shadows, which may signify not only tuberculosis but also pneumonia, tumors, lung infarction, eosinophilic infiltrate, and other conditions, the question of their differential diagnosis becomes quite relevant. The increasing frequency and subtle clinical presentation of the “Pulmonary infiltrate syndrome” necessitate proficiency in the clinical aspects and diagnosis of its most common manifestations. The key differential diagnostic features that distinguish infiltrative pulmonary tuberculosis from other nonspecific infiltrates include contact with a tuberculosis patient or a history of tuberculosis, often subacute onset, heterogeneous infiltrative shadow in 1, 2, or 6 segments with a connection to the lung root, moderate leukocytosis, lymphopenia, elevated ESR, presence of acid-fast bacilli in sputum or bronchial lavage, specific endobronchitis, positive response to antitubercular therapy, and lack of improvement with other nonspecific treatment methods.

A rare case of classic Kaposi’s sarcoma with a lesion of the oral mucosa

Kaposi’s sarcoma is a systemic tumor multifocal disease of vascular genesis. In the classic Kaposi’s sarcoma, lesions are most often localized on the skin of the lower extremities, lesions of the mucous membranes are extremely rare. The article presents a rare clinical case of the classic Kaposi’s sarcoma in a 56 years old man with lesions of the oral mucosa. This clinical case is of particular interest due to the difficulties of differential diagnosis of Kaposi’s sarcoma and lichen planus when mucous membranes are involved in the pathological process. The presented case emphasizes the importance of a histological examination of the biopsy in differential diagnosis of Kaposi’s sarcoma. In case when the rash is widespread and the mucous membranes are involved, it is recommended to collect the material from the skin, because the histological picture will be more characteristic. It is important to pay attention to the duration of the elements’ existence, as morphological diagnosis in the early stages of Kaposi’s sarcoma can imitate the pattern of chronic dermatosis.

Neoplastic and Non-neoplastic Bone Lesions of the Knee.

Numerous anatomical variants are described around the knee, many of which look like bony lesions, so it is important to know them to avoid unnecessary complementary tests and inadequate management. Likewise, several alterations in relation to normal development can also simulate bone lesions.However, numerous pathologic processes frequently affect the knee, including traumatic, inflammatory, infectious, and tumor pathology. Many of these entities show typical radiologic features that facilitate their diagnosis. In other cases, a correct differential diagnosis is necessary for proper clinical management.Despite the availability of increasingly advanced imaging techniques, plain radiography is still the technique of choice in the initial study of many of these pathologies. This article reviews the radiologic characteristics of tumor and nontumor lesions that may appear around the knee to make a correct diagnosis and avoid unnecessary complementary radiologic examinations and inadequate clinical management.

Can EBP50 and Merlin be used as diagnostic and prognostic markers for uterine smooth muscle tumors?

Uterine smooth muscle tumors are common neoplasms of smooth muscle in the uterus. They range from benign leiomyomas and their variants to malignant leiomyosarcomas. Although there are many subtypes of leiomyoma, mitotically active leiomyoma and leiomyoma with bizarre nuclei are sometimes difficult to differentiate from leiomyosarcoma. Our aim in this study was to investigate whether EBP50 and Merlin expression can be used in the differential diagnosis of uterine smooth muscle tumors and to determine their prognostic significance. Our study analyzed 80 cases diagnosed with uterine smooth muscle tumors from the Pathology Department archive of Dicle University Faculty of Medicine between 2012 and 2023. Primary antibodies EBP50 and Merlin were used in the immunohistochemical study. Information regarding patient age, treatment, and clinical follow-up was obtained from Dicle University Department of Obstetrics and Gynecology and Dicle University Department of Medical Oncology. Our study revealed that EBP50 expression was significantly higher in the leiomyosarcoma and STUMP groups, while Merlin expression was significantly higher in only the leiomyosarcoma group. Prognostic parameters were not found to be associated with EBP50 and Merlin expression levels. EBP50 and Merlin expression levels have not been previously studied in uterine smooth muscle tumors. Our study suggests that high expression of EBP50 in STUMP and leiomyosarcoma, as well as Merlin in leiomyosarcoma, may be helpful in the differential diagnosis of uterine smooth muscle tumors.

Macrocephaly and Finger Changes: A Narrative Review

Macrocephaly, characterized by an abnormally large head circumference, often co-occurs with distinctive finger changes, presenting a diagnostic challenge for clinicians. This review aims to provide a current synthetic overview of the main acquired and genetic etiologies associated with macrocephaly and finger changes. The genetic cause encompasses several categories of diseases, including bone marrow expansion disorders, skeletal dysplasias, ciliopathies, inherited metabolic diseases, RASopathies, and overgrowth syndromes. Furthermore, autoimmune and autoinflammatory diseases are also explored for their potential involvement in macrocephaly and finger changes. The intricate genetic mechanisms involved in the formation of cranial bones and extremities are multifaceted. An excess in growth may stem from disruptions in the intricate interplays among the genetic, epigenetic, and hormonal factors that regulate human growth. Understanding the underlying cellular and molecular mechanisms is important for elucidating the developmental pathways and biological processes that contribute to the observed clinical phenotypes. The review provides a practical approach to delineate causes of macrocephaly and finger changes, facilitate differential diagnosis and guide for the appropriate etiological framework. Early recognition contributes to timely intervention and improved outcomes for affected individuals.

Plasmablastic lymphoma: 2024 update on diagnosis, risk stratification, and management.

Plasmablastic lymphoma (PBL) is a rare CD20-negative aggressive lymphoma with a poor prognosis under standard treatment options. Though PBL is associated with human immunodeficiency virus infection and other immunosuppressed states, it can also affect immunocompetent individuals. The diagnosis requires a high clinical suspicion and pathological confirmation. EBER expression and MYC gene rearrangements are frequently detected. The differential diagnosis includes EBV+ diffuse large B-cell lymphoma, extracavitary primary effusion lymphoma, ALK+ DLBCL, and HHV8+ large B-cell lymphoma, among others. Age ≥60 years, advanced clinical stage, and high intermediate and high International Prognostic Index scores are associated with worse survival. Combination chemotherapy regimens, such as EPOCH, are recommended. The addition of bortezomib, lenalidomide, or daratumumab might improve outcomes. Including PBL patients and their participation in prospective clinical trials is warranted.

Leading with dysphagia… An unusual view of a common symptom.

Plummer-Vinson syndrome (PVS) is characterized by the classic triad of post-cricoid dysphagia, iron-deficiency anemia and esophageal webs. PVS is commonly found in women of middle age especially in the fourth and fifth decade of life. The prevalence of PVS has decreased due to early detection of iron deficiency and repletion of iron stores. We report a case of a 81-year-old female patient who had a classic presentation of PVS, treated successfully with endoscopic procedure. To our knowledge, the current case is the fourth case of dysphagia related to Plummer-Vinson syndrome reported in an octogenarian in the literature so far. Iron supplementation can resolve dysphagia in many patients, but dilation of esophageal webs may sometimes be required. PVS should be part of the differential diagnosis of sideropenic dysphagia, especially due the risk of pharyngeal and esophageal epidermoid neoplasia.