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2.
Health Expect ; 27(1): e13957, 2024 Feb.
Article En | MEDLINE | ID: mdl-38828702

BACKGROUND: Diagnostic uncertainty is common, but its communication to patients is under-explored. This study aimed to (1) characterise variation in doctors' communication of diagnostic uncertainty and (2) explore why variation occurred. METHODS: Four written vignettes of clinical scenarios involving diagnostic uncertainty were developed. Doctors were recruited from five hospitals until theoretical saturation was reached (n = 36). Participants read vignettes in a randomised order, and were asked to discuss the diagnosis/plan with an online interviewer, as they would with a 'typical patient'. Semi-structured interviews explored reasons for communication choices. Interview transcripts were coded; quantitative and qualitative (thematic) analyses were undertaken. RESULTS: There was marked variation in doctors' communication: in their discussion about differential diagnoses, their reference to the level of uncertainty in diagnoses/investigations and their acknowledgement of diagnostic uncertainty when safety-netting. Implicit expressions of uncertainty were more common than explicit. Participants expressed both different communication goals (including reducing patient anxiety, building trust, empowering patients and protecting against diagnostic errors) and different perspectives on how to achieve these goals. Training in diagnostic uncertainty communication is rare, but many felt it would be useful. CONCLUSIONS: Significant variation in diagnostic uncertainty communication exists, even in a controlled setting. Differing communication goals-often grounded in conflicting ethical principles, for example, respect for autonomy versus nonmaleficence-and differing ideas on how to prioritise and achieve them may underlie this. The variation in communication behaviours observed has important implications for patient safety and health inequalities. Patient-focused research is required to guide practice. PATIENT OR PUBLIC CONTRIBUTION: In the design stage of the study, two patient and public involvement groups (consisting of members of the public of a range of ages and backgrounds) were consulted to gain an understanding of patient perspectives on the concept of communicating diagnostic uncertainty. Their feedback informed the formulations of the research questions and the choice of vignettes used.


Communication , Physician-Patient Relations , Physicians , Humans , Uncertainty , Male , Female , Physicians/psychology , Adult , Middle Aged , Interviews as Topic , Diagnosis, Differential , Qualitative Research
3.
J Craniofac Surg ; 35(4): 1197-1200, 2024 Jun 01.
Article En | MEDLINE | ID: mdl-38829145

BACKGROUND: Odontogenic cutaneous fistula (OCF) is a pathologic communication between the cutaneous surface of the face and oral cavity. Majority of oral cutaneous fistulas are reported to arise from chronic dental infection. Delay in treatment may result in chronic tissue injury as well as cosmetic deformities. Lesions are often misdiagnosed, leading to delayed management. Misdiagnosis may be the result of the variability of clinical morphological presentation and location of lesions compounded by the lack of knowledge that these lesions can have dental etiology. It is estimated that half of patients with OCF undergo multiple dermatologic surgical operations, antibiotic regimens, and other excisions and biopsies before a correct diagnosis is made. Herein, we present a systematic review to detail cases of odontogenic cutaneous lesions that had been previously misdiagnosed or managed inappropriately. In addition, we include a case report from our own institution. The aims are to demonstrate various presentations of OCF, increase awareness of plastic surgeons and oral maxillofacial surgeons to this pathological condition, and reinforce the importance of prompt diagnosis and treatment. METHODS: The study was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. A literature search was conducted in PubMed, Web of Science, and Cochrane databases from January 1, 2013 to July 24, 2023. The following search terms were utilized: "odontogenic cutaneous fistula" OR "odontogenic cutaneous sinus." RESULTS: Twenty-three articles published between 2013 and 2023 were included in this review. In addition, we report a case from our own institution. A total of 28 cases were included in the review. CONCLUSIONS: Diagnosis of OCF is challenging for numerous reasons. Misdiagnosis can lead to multiple trials of antibiotics and surgical procedures as well as reoccurrence of the lesion. Cases summarized highlight the importance of communication between oral maxillofacial surgery, plastic surgery, other medical subspecialists, and dentists in the evaluation of patients with head and neck lesions. Physicians should consider dental etiology in the differential diagnosis of orofacial skin lesions, even if teeth appear normal on oral examination.


Cutaneous Fistula , Humans , Cutaneous Fistula/diagnosis , Cutaneous Fistula/surgery , Male , Female , Dental Fistula/diagnosis , Diagnostic Errors , Middle Aged , Diagnosis, Differential , Adult
5.
J Am Coll Radiol ; 21(6S): S100-S125, 2024 Jun.
Article En | MEDLINE | ID: mdl-38823940

Diagnostic evaluation of a patient with dizziness or vertigo is complicated by a lack of standardized nomenclature, significant overlap in symptom descriptions, and the subjective nature of the patient's symptoms. Although dizziness is an imprecise term often used by patients to describe a feeling of being off-balance, in many cases dizziness can be subcategorized based on symptomatology as vertigo (false sense of motion or spinning), disequilibrium (imbalance with gait instability), presyncope (nearly fainting or blacking out), or lightheadedness (nonspecific). As such, current diagnostic paradigms focus on timing, triggers, and associated symptoms rather than subjective descriptions of dizziness type. Regardless, these factors complicate the selection of appropriate diagnostic imaging in patients presenting with dizziness or vertigo. This document serves to aid providers in this selection by using a framework of definable clinical variants. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.


Dizziness , Societies, Medical , Dizziness/diagnostic imaging , Humans , United States , Ataxia/diagnostic imaging , Evidence-Based Medicine , Diagnosis, Differential
6.
J Am Coll Radiol ; 21(6S): S65-S78, 2024 Jun.
Article En | MEDLINE | ID: mdl-38823956

Chronic hand and wrist pain is a common presenting complaint. The intricate anatomy results in a variety of pain generators-multiple bones, articular cartilage, intrinsic ligaments, triangular fibrocartilage complex, joint capsules and synovium, tendons and tendon sheaths, muscles, and nerves-in a compact space. The need for imaging and the choice of the appropriate imaging modality are best determined by the patient's presentation, physical examination, and the clinician's working differential diagnosis. Radiography is usually appropriate as the initial imaging study in the evaluation of chronic hand or wrist pain. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.


Chronic Pain , Evidence-Based Medicine , Societies, Medical , Humans , Chronic Pain/diagnostic imaging , United States , Hand/diagnostic imaging , Diagnosis, Differential , Arthralgia/diagnostic imaging
7.
J Am Coll Radiol ; 21(6S): S343-S352, 2024 Jun.
Article En | MEDLINE | ID: mdl-38823955

Pleural effusions are categorized as transudative or exudative, with transudative effusions usually reflecting the sequala of a systemic etiology and exudative effusions usually resulting from a process localized to the pleura. Common causes of transudative pleural effusions include congestive heart failure, cirrhosis, and renal failure, whereas exudative effusions are typically due to infection, malignancy, or autoimmune disorders. This document summarizes appropriateness guidelines for imaging in four common clinical scenarios in patients with known or suspected pleural effusion or pleural disease. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.


Evidence-Based Medicine , Pleural Effusion , Societies, Medical , Humans , Pleural Effusion/diagnostic imaging , United States , Pleural Diseases/diagnostic imaging , Diagnostic Imaging/methods , Diagnostic Imaging/standards , Diagnosis, Differential
8.
J Am Coll Radiol ; 21(6S): S79-S99, 2024 Jun.
Article En | MEDLINE | ID: mdl-38823957

Asymptomatic adnexal masses are commonly encountered in daily radiology practice. Although the vast majority of these masses are benign, a small subset have a risk of malignancy, which require gynecologic oncology referral for best treatment outcomes. Ultrasound, using a combination of both transabdominal, transvaginal, and duplex Doppler technique can accurately characterize the majority of these lesions. MRI with and without contrast is a useful complementary modality that can help characterize indeterminate lesions and assess the risk of malignancy is those that are suspicious. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.


Adnexal Diseases , Evidence-Based Medicine , Societies, Medical , Humans , Adnexal Diseases/diagnostic imaging , Female , United States , Diagnosis, Differential
9.
BMC Cancer ; 24(1): 670, 2024 Jun 01.
Article En | MEDLINE | ID: mdl-38824514

BACKGROUND: An accurate and non-invasive approach is urgently needed to distinguish tuberculosis granulomas from lung adenocarcinomas. This study aimed to develop and validate a nomogram based on contrast enhanced-compute tomography (CE-CT) to preoperatively differentiate tuberculosis granuloma from lung adenocarcinoma appearing as solitary pulmonary solid nodules (SPSN). METHODS: This retrospective study analyzed 143 patients with lung adenocarcinoma (mean age: 62.4 ± 6.5 years; 54.5% female) and 137 patients with tuberculosis granulomas (mean age: 54.7 ± 8.2 years; 29.2% female) from two centers between March 2015 and June 2020. The training and internal validation cohorts included 161 and 69 patients (7:3 ratio) from center No.1, respectively. The external testing cohort included 50 patients from center No.2. Clinical factors and conventional radiological characteristics were analyzed to build independent predictors. Radiomics features were extracted from each CT-volume of interest (VOI). Feature selection was performed using univariate and multivariate logistic regression analysis, as well as the least absolute shrinkage and selection operator (LASSO) method. A clinical model was constructed with clinical factors and radiological findings. Individualized radiomics nomograms incorporating clinical data and radiomics signature were established to validate the clinical usefulness. The diagnostic performance was assessed using the receiver operating characteristic (ROC) curve analysis with the area under the receiver operating characteristic curve (AUC). RESULTS: One clinical factor (CA125), one radiological characteristic (enhanced-CT value) and nine radiomics features were found to be independent predictors, which were used to establish the radiomics nomogram. The nomogram demonstrated better diagnostic efficacy than any single model, with respective AUC, accuracy, sensitivity, and specificity of 0.903, 0.857, 0.901, and 0.807 in the training cohort; 0.933, 0.884, 0.893, and 0.892 in the internal validation cohort; 0.914, 0.800, 0.937, and 0.735 in the external test cohort. The calibration curve showed a good agreement between prediction probability and actual clinical findings. CONCLUSION: The nomogram incorporating clinical factors, radiological characteristics and radiomics signature provides additional value in distinguishing tuberculosis granuloma from lung adenocarcinoma in patients with a SPSN, potentially serving as a robust diagnostic strategy in clinical practice.


Adenocarcinoma of Lung , Granuloma , Lung Neoplasms , Nomograms , Tomography, X-Ray Computed , Humans , Female , Middle Aged , Male , Tomography, X-Ray Computed/methods , Retrospective Studies , Adenocarcinoma of Lung/diagnostic imaging , Adenocarcinoma of Lung/pathology , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/pathology , Diagnosis, Differential , Granuloma/diagnostic imaging , Granuloma/pathology , Aged , Tuberculosis, Pulmonary/diagnostic imaging , Preoperative Period , Radiomics
10.
Sci Rep ; 14(1): 12605, 2024 06 01.
Article En | MEDLINE | ID: mdl-38824246

The diagnostic value of contrast-enhanced ultrasound combined with ultrasound elastography for benign and malignant thyroid nodules is still controversial, so we used meta-analysis to seek controversial answers. The PubMed, OVID, and CNKI databases were searched according to the inclusion and exclusion criteria. The literature was selected from the establishment of each database to February 2024. The QUADAS-2 tool assessed diagnostic test accuracy. SROC curves and Spearman's correlation coefficient were made by Review Manager 5.4 software to assess the presence of threshold effects in the literature. Meta-Disc1.4 software was used for Cochrane-Q and χ2 tests, which be used to evaluate heterogeneity, with P-values and I2 indicating heterogeneity levels. The appropriate effect model was selected based on the results of the heterogeneity test. Stata18.0 software was used to evaluate publication bias. The diagnostic accuracy of contrast-enhanced ultrasound combined with ultrasound elastography for benign and malignant thyroid nodules was evaluated by calculating the combined sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, DOR, and area under the SROC curve. A total of 31 studies included 3811 patients with 4718 nodules were analyzed. There is no heterogeneity caused by the threshold effect, but there is significant non-threshold heterogeneity. Combined diagnostic metrics were: sensitivity = 0.93, specificity = 0.91, DOR = 168.41, positive likelihood ratio = 10.60, and negative likelihood ratio = 0.07. The SROC curve area was 0.97. Contrast-enhanced ultrasound and elastography show high diagnostic accuracy for thyroid nodules, offering a solid foundation for early diagnosis and treatment.Trial registration. CRD42024509462.


Contrast Media , Elasticity Imaging Techniques , Thyroid Nodule , Ultrasonography , Humans , Thyroid Nodule/diagnostic imaging , Thyroid Nodule/pathology , Elasticity Imaging Techniques/methods , Ultrasonography/methods , Diagnosis, Differential , Sensitivity and Specificity , Thyroid Neoplasms/diagnostic imaging , Thyroid Neoplasms/pathology , Thyroid Neoplasms/diagnosis
11.
Zhonghua Bing Li Xue Za Zhi ; 53(6): 541-545, 2024 Jun 08.
Article Zh | MEDLINE | ID: mdl-38825897

Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of pseudocarcinomatous hyperplasia of the fallopian tubes. Methods: Sixteen cases of pseudocarcinomatous hyperplasia of the fallopian tubes diagnosed at Obstetrics and Gynecology Hospital of Fudan University from January 2011 to January 2024 were collected.The pathological sections were reviewed, the clinical and pathological data were consulted, and immunohistochemical examination was conducted along with follow-up. Results: The patients were aged from 19 to 57 years, with an average age of 41 and a median age of 38. Among the 16 cases, 4 were located in the right fallopian tubes, 6 in the left fallopian tubes, while the remaining cases presented bilaterally. The general manifestations were tubal edema, crispness and purulent secretion in the lumen. Morphologically, the fallopian tube mucosa exhibited a significant infiltration of neutrophils, lymphocytes and plasma cells. The epithelial cells of the fallopian tube displayed evident proliferation, stratification and disorganized arrangement leading to formation of small glandular cavity with back-to-back, fissure-like and sieve-like structures. Immunohistochemical analysis revealed positivity for CK7 and WT1, along with wild-type p53 expression, Ki-67 index ranged from 5% to 20%. During the follow-up period ranging from 1 to 156 months, all the patients remained free of disease. Conclusions: Pseudocarcinomatous hyperplasia of the fallopian tube is a rare non-neoplastic lesion, which can lead to epithelial hyperplasia and atypical hyperplasia. The most important significance of recognizing this lesion lies in avoiding misdiagnosis of fallopian tube cancer during intraoperative and postoperative pathological examination. This ensures that clinicians can administer correct clinical interventions.


Fallopian Tubes , Hyperplasia , Humans , Female , Adult , Hyperplasia/pathology , Middle Aged , Fallopian Tubes/pathology , Fallopian Tubes/metabolism , Diagnosis, Differential , Tumor Suppressor Protein p53/metabolism , Keratin-7/metabolism , Fallopian Tube Neoplasms/pathology , Fallopian Tube Neoplasms/metabolism , Fallopian Tube Neoplasms/surgery , Fallopian Tube Neoplasms/diagnosis , Ki-67 Antigen/metabolism , WT1 Proteins/metabolism , Young Adult , Epithelial Cells/pathology , Epithelial Cells/metabolism , Immunohistochemistry , Fallopian Tube Diseases/pathology , Fallopian Tube Diseases/metabolism , Fallopian Tube Diseases/diagnosis
12.
Zhonghua Bing Li Xue Za Zhi ; 53(6): 552-556, 2024 Jun 08.
Article Zh | MEDLINE | ID: mdl-38825899

Objective: To investigate the diagnostic value of preferentially expressed antigen in melanoma (PRAME) immunohistochemical staining in differential diagnosis of primary endometrial and endocervical adenocarcinomas. Methods: Eighty-seven cases of endometrial adenocarcinoma and sixty-three cases of cervical adenocarcinoma were collected from May 2018 to November 2023 in the Department of Pathology, Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School and all the cases were subject to PRAME immunohistochemical staining. The difference of PRAME expression between endometrial and endocervical adenocarcinomas was analyzed. Results: In 87 cases of endometrial adenocarcinoma, patients' age ranged from 35 to 71 years (average 59 years, median 59 years); in 63 cases of cervical adenocarcinoma patients' age ranged from 28 to 80 years (average 49 years, median 47 years). Seventy-eight cases (78/87, 89.7%) of endometrial adenocarcinoma; 2 cases (2/63, 3.2%) of cervical adenocarcinoma showed positive PRAME staining, and both cases of cervical adenocarcinoma were clear cell carcinoma. The sensitivity and specificity of PRAME in distinguishing between endometrial and cervical adenocarcinoma in the cohort were 89.7% and 96.8%, while those in differentiating non-clear cell carcinoma of the uterus from that of the cervix reached up to 91% and 100%, respectively. Conclusions: Immunohistochemical staining for PRAME demonstrates statistically significant differences between endometrial and cervical carcinomas, making it a useful auxiliary diagnostic marker for differentiating cervical and endometrial adenocarcinoma, especially non-clear cell carcinoma.


Adenocarcinoma , Biomarkers, Tumor , Endometrial Neoplasms , Immunohistochemistry , Sensitivity and Specificity , Uterine Cervical Neoplasms , Humans , Female , Endometrial Neoplasms/diagnosis , Endometrial Neoplasms/metabolism , Endometrial Neoplasms/pathology , Middle Aged , Diagnosis, Differential , Uterine Cervical Neoplasms/diagnosis , Uterine Cervical Neoplasms/metabolism , Uterine Cervical Neoplasms/pathology , Adult , Adenocarcinoma/diagnosis , Adenocarcinoma/metabolism , Adenocarcinoma/pathology , Aged , Biomarkers, Tumor/metabolism , Antigens, Neoplasm/metabolism , Aged, 80 and over
13.
Zhonghua Bing Li Xue Za Zhi ; 53(6): 563-569, 2024 Jun 08.
Article Zh | MEDLINE | ID: mdl-38825901

Objective: To analyze the clinicopathological features and differential diagnosis of large B-cell lymphoma with IRF4 rearrangement, aiming enhance its recognition and prevent misdiagnosis. Methods: The clinicopathological features, immunophenotype, and fluorescence in situ hybridization (FISH) results of six cases diagnosed with IRF4 rearrangement-positive B-cell lymphoma at the Affiliated Hospital of Xuzhou Medical University from 2015 to 2023 were retrospectively analyzed. Additionally, a comprehensive review of the literature was conducted. Results: Six patients with IRF4 rearrangement-positive large B-cell lymphoma were included. Patients 1 to 5 included three males and two females with a median age of 19 years ranging from 11 to 34 years. Four patients presented with head and neck lesions, while the other one had a breast nodule; all were in clinical Ann Arbor stages I to Ⅱ. Morphologically, entirely diffuse pattern was present in two cases, purely follicular pattern in one case, and diffuse and follicular patterns in other two cases. The tumor cells, predominantly centroblasts mixed with some irregular centrocytes, were of medium to large size, with a starry sky appearance observed in two cases. Immunophenotyping revealed all cases were positive for bcl-6 and MUM1, with a Ki-67 index ranging from 70% to 90%, and CD10 was positive in two cases. IRF4 rearrangement was confirmed in all cases by FISH analysis, with dual IRF4/bcl-6 rearrangements identified in two cases, leading to a diagnosis of LBCL-IRF4. Case 6, a 39-year-old female with a tonsillar mass and classified as clinical Ann Arbor stage Ⅳ, displayed predominantly diffuse large B-cell lymphoma (DLBCL) morphology with 20% high-grade follicular lymphoma characteristics. Immunohistochemistry showed negative CD10 and positive bcl-6/MUM1, with a Ki-67 index of approximately 80%. Triple rearrangements of IRF4/bcl-2/bcl-6 were identified by FISH, leading to a diagnosis of DLBCL with 20% follicular lymphoma (FL). All six patients achieved complete remission after treatment, with no progression or relapse during a follow-up period of 31-100 months. Conclusions: Large B-cell lymphoma with IRF4 rearrangement is a rare entity with pathological features that overlap with those of FL and DLBCL. While IRF4 rearrangement is necessary for diagnosing LBCL-IRF4, it is not specific and requires differentiation from other aggressive B-cell lymphomas with IRF4 rearrangement.


Gene Rearrangement , In Situ Hybridization, Fluorescence , Interferon Regulatory Factors , Lymphoma, Large B-Cell, Diffuse , Proto-Oncogene Proteins c-bcl-6 , Humans , Interferon Regulatory Factors/genetics , Interferon Regulatory Factors/metabolism , Diagnosis, Differential , Female , Male , Lymphoma, Large B-Cell, Diffuse/genetics , Lymphoma, Large B-Cell, Diffuse/pathology , Lymphoma, Large B-Cell, Diffuse/diagnosis , Lymphoma, Large B-Cell, Diffuse/metabolism , Adult , Adolescent , Retrospective Studies , Proto-Oncogene Proteins c-bcl-6/genetics , Proto-Oncogene Proteins c-bcl-6/metabolism , Child , Young Adult , Immunophenotyping , Proto-Oncogene Proteins c-bcl-2/genetics , Proto-Oncogene Proteins c-bcl-2/metabolism
16.
Zhonghua Bing Li Xue Za Zhi ; 53(6): 598-604, 2024 Jun 08.
Article Zh | MEDLINE | ID: mdl-38825906

Objective: To investigate the clinicopathological, immunophenotypic and molecular genetic characteristics, and differential diagnosis of NTRK-rearranged spindle cell neoplasms (NTRK-RSCNs) in the gastrointestinal tract. Methods: Two NTRK-RSCNs diagnosed at the Department of Pathology of the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China and one case diagnosed at Zhengzhou Central Hospital, Zhengzhou, China from 2019 to 2022 were collected. The clinical data, histopathology, immunophenotypes and prognosis were analyzed. Fluorescence in situ hybridization (FISH) and next-generation sequencing (NGS) were used to detect NTRK gene rearrangements, while relevant literature was also reviewed and discussed. Results: Two patients were male and one was female, with the age of 17, 47 and 62 years, respectively. The tumors were located in the duodenum, ascending colon and descending colon, respectively. The tumors were protuberant masses with gray and rubbery sections. Their maximum diameter was 2.5, 5.0 and 10.0 cm, respectively. Histologically, the tumors invaded mucosa, intrinsic muscle and serosal adipose tissue. Tumor cells consisted of spindle or oval shaped cells with monotonous morphology and arranged in bundles or stripes pattern. Spindle cells were mildly to moderately atypical, with slightly eosinophilic cytoplasm and inconspicuous nucleoli. Necrosis and mitotic figures were observed in one high-grade tumor. All tumors expressed CD34, S-100 and pan-TRK in varying degrees. FISH analysis showed that NTRK1 gene was break-apart in 1 case and NTRK2 gene break-apart in 2 cases. NGS technologies showed LMNA::NTRK1 fusion in one case, STRN::NTRK2 fusion in another case. All patients recovered well after the surgery without recurrence at the end of the follow-up. Conclusions: NTRK-RSCN is rarely diagnosed in the gastrointestinal tract and has significant variations in morphology. It overlaps with various other mesenchymal tumors which should be considered as differential diagnoses. Be familiar with the features of histological morphology in combination with immunophenotype and molecular genetic characteristics can not only help diagnose NTRK-RSCNs, but provide therapeutic targets for clinical treatment.


Gastrointestinal Neoplasms , In Situ Hybridization, Fluorescence , Receptor, trkA , Humans , Male , Female , Middle Aged , Receptor, trkA/genetics , Receptor, trkA/metabolism , Gastrointestinal Neoplasms/genetics , Gastrointestinal Neoplasms/pathology , Adolescent , Gene Rearrangement , Diagnosis, Differential , High-Throughput Nucleotide Sequencing , Receptor, trkB/genetics , Receptor, trkB/metabolism
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