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1.
Radiology ; 310(3): e232298, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38441091

ABSTRACT

Gastrointestinal (GI) bleeding is the most common GI diagnosis leading to hospitalization within the United States. Prompt diagnosis and treatment of GI bleeding is critical to improving patient outcomes and reducing high health care utilization and costs. Radiologic techniques including CT angiography, catheter angiography, CT enterography, MR enterography, nuclear medicine red blood cell scan, and technetium-99m pertechnetate scintigraphy (Meckel scan) are frequently used to evaluate patients with GI bleeding and are complementary to GI endoscopy. However, multiple management guidelines exist, which differ in the recommended utilization of these radiologic examinations. This variability can lead to confusion as to how these tests should be used in the evaluation of GI bleeding. In this document, a panel of experts from the American College of Gastroenterology and Society of Abdominal Radiology provide a review of the radiologic examinations used to evaluate for GI bleeding including nomenclature, technique, performance, advantages, and limitations. A comparison of advantages and limitations relative to endoscopic examinations is also included. Finally, consensus statements and recommendations on technical parameters and utilization of radiologic techniques for GI bleeding are provided. © Radiological Society of North America and the American College of Gastroenterology, 2024. Supplemental material is available for this article. This article is being published concurrently in American Journal of Gastroenterology and Radiology. The articles are identical except for minor stylistic and spelling differences in keeping with each journal's style. Citations from either journal can be used when citing this article. See also the editorial by Lockhart in this issue.


Subject(s)
Gastrointestinal Hemorrhage , Radiology , Humans , Gastrointestinal Hemorrhage/diagnostic imaging , Tomography, X-Ray Computed , Angiography , Catheters
2.
Pediatr Dermatol ; 2024 Mar 08.
Article in English | MEDLINE | ID: mdl-38459633

ABSTRACT

There is limited information available on pressure-related neonatal nasal injuries. We present three neonates born with erythema and purpura of the nasal tip that subsequently ulcerated, then evolved into a thick eschar. Each healed well with conservative management but left behind significant scarring. The sharp demarcation and location of the lesions were suggestive of hypoxic tissue damage akin to halo scalp ring alopecia. Further investigation is necessary to elucidate the etiology and optimal management of this condition.

3.
J Cutan Pathol ; 51(4): 317-326, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38158735

ABSTRACT

BACKGROUND: In dermatomyositis (DM), myositis-specific and myositis-associated antibodies have been correlated with clinical features. It is unknown if histopathologic findings in lesional skin biopsies correlate with serologic subtypes of DM. METHODS: A retrospective chart review of patients with DM was performed. Patients with myositis antibodies and DM lesional skin biopsies were included in the study. Skin biopsies were reviewed by blinded dermatopathologists for 20 histopathologic features. RESULTS: There was a statistically significant (p < 0.05) association between anti-PL-7 serology and decreased degree of vacuolar degeneration, necrotic keratinocytes, and thickening of the epidermal basement membrane. Anti-aminoacyl tRNA synthetase (anti-ARS) antibodies had the same significant negative association with degree of vacuolar degeneration, necrotic keratinocytes, and thickening of the epidermal basement membrane. A similar pattern was seen with an anti-cytoplasmic serology; where there was a significant association with an increased degree of vacuolar degeneration and necrotic keratinocytes, and a nonsignificant trend of minimally thickened epidermal basement membrane. There was a statistically significant association between anti-Ro/SSA serology and increased degree of vacuolar degeneration. Anti-TIF1-γ serology was significantly associated with the increased presence of necrotic keratinocytes and pigment incontinence, and displayed a pattern of increased neutrophils. There was a significant association between anti-Mi-2 antibodies and pigment incontinence, as well as between myositis-specific antibodies and pigment incontinence. A statistically significant positive association was found between nuclear antibodies and degree of vacuolar degeneration, thickened epidermal basement membrane, pigment incontinence, and epidermal atrophy. CONCLUSION: In patients with DM, some specific serotypes, including anti-PL-7, anti-Ro/SSA, anti-Mi-2, and anti-TIF1-γ, may have characteristic histopathologic features.


Subject(s)
Dermatomyositis , Lung Diseases, Interstitial , Myositis , Humans , Dermatomyositis/complications , Retrospective Studies , Myositis/complications , Autoantibodies
4.
Radiographics ; 43(6): e220192, 2023 06.
Article in English | MEDLINE | ID: mdl-37167088

ABSTRACT

Gastrointestinal (GI) bleeding is a potentially life-threatening condition accounting for more than 300 000 annual hospitalizations. Multidetector abdominopelvic CT angiography is commonly used in the evaluation of patients with GI bleeding. Given that many patients with severe overt GI bleeding are unlikely to tolerate bowel preparation, and inpatient colonoscopy is frequently limited by suboptimal preparation obscuring mucosal visibility, CT angiography is recommended as a first-line diagnostic test in patients with severe hematochezia to localize a source of bleeding. Assessment of these patients with conventional single-energy CT systems typically requires the performance of a noncontrast series followed by imaging during multiple postcontrast phases. Dual-energy CT (DECT) offers several potential advantages for performing these examinations. DECT may eliminate the need for a noncontrast acquisition by allowing the creation of virtual noncontrast (VNC) images from contrast-enhanced data, affording significant radiation dose reduction while maintaining diagnostic accuracy. VNC images can help radiologists to differentiate active bleeding, hyperattenuating enteric contents, hematomas, and enhancing masses. Additional postprocessing techniques such as low-kiloelectron voltage virtual monoenergetic images, iodine maps, and iodine overlay images can increase the conspicuity of contrast material extravasation and improve the visibility of subtle causes of GI bleeding, thereby increasing diagnostic confidence and assisting with problem solving. GI bleeding can also be diagnosed with routine single-phase DECT scans by constructing VNC images and iodine maps. Radiologists should also be aware of the potential pitfalls and limitations of DECT. ©RSNA, 2023 Quiz questions for this article are available through the Online Learning Center.


Subject(s)
Gastrointestinal Hemorrhage , Radiography, Dual-Energy Scanned Projection , Tomography, X-Ray Computed , Humans , Gastrointestinal Hemorrhage/diagnostic imaging , Intestine, Small , Iodine , Radiography, Dual-Energy Scanned Projection/methods , Tomography, X-Ray Computed/methods
7.
J Cutan Pathol ; 50(7): 647-652, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37069790

ABSTRACT

Melanoma and benign histiocytic proliferations can sometimes show considerable clinical and histopathologic overlap. Recently, cases of melanomas resembling xanthogranuloma and Rosai-Dorfman disease have been reported, and herein we report a case of melanoma closely mimicking reticulohistiocytoma. An 84-year-old man presented with a 1 cm purple-red nodule on his arm concerning for squamous cell carcinoma. While the biopsy findings resembled reticulohistiocytoma, the clinical context and regression changes at the lesion perimeter raised stronger concern for melanoma, which was confirmed with immunohistochemistry. We review prior rare reports of melanomas resembling non-Langerhans cell histiocytic proliferations and summarize helpful clinical and histopathologic clues to avoid a diagnostic pitfall when confronted with this unusual quandary.


Subject(s)
Histiocytosis, Non-Langerhans-Cell , Histiocytosis, Sinus , Histiocytosis , Melanoma , Soft Tissue Neoplasms , Male , Humans , Aged, 80 and over , Histiocytosis/pathology , Histiocytosis, Sinus/pathology
8.
Br J Dermatol ; 187(2): 223-233, 2022 08.
Article in English | MEDLINE | ID: mdl-35191018

ABSTRACT

BACKGROUND: Hidradenitis suppurativa (HS) is an inflammatory skin disease with dysregulation of the interleukin (IL)-17 axis. Recently, we reported the clinical benefit of brodalumab, a human anti-IL-17 receptor A (IL-17RA) monoclonal antibody, in moderate-to-severe HS. OBJECTIVES: To characterize the molecular response to brodalumab in HS skin and serum, and to identify biomarkers of treatment response. METHODS: Ten participants, who received brodalumab 210 mg /1·5 mL subcutaneously at weeks 0, 1, 2, 4 and every 2 weeks thereafter, were included in this molecular profiling study (NCT03960268). RNA sequencing and immunohistochemistry of nonlesional, perilesional and lesional HS skin biopsies, and Olink high-throughput proteomics of serum at baseline, weeks 4 and 12 were assessed. RESULTS: At week 12, brodalumab led to a decrease of overall inflammation, and improvement of psoriasis-, keratinocyte- and neutrophil-related pathways. Despite perilesional and lesional skin exhibiting no differentially expressed genes at baseline, treatment response was best assessed in perilesional skin. In serum, brodalumab treatment decreased pathways involved in neutrophil inflammation. Patients with higher baseline expression of neutrophil-associated lipocalin-2 (LCN2) in the skin or IL-17A in the serum demonstrated greater decreases of HS-related inflammatory cytokines as measured in skin biopsies at week 12. CONCLUSIONS: IL-17RA inhibition by brodalumab decreases several pathogenic inflammatory axes in HS. Perilesional skin provides a valid and robust assessment of treatment response. Expression of LCN2 in skin or IL-17A in serum may be used as biomarkers to stratify patients that may have a superior molecular response to brodalumab.


Subject(s)
Hidradenitis Suppurativa , Antibodies, Monoclonal, Humanized , Biomarkers/metabolism , Humans , Inflammation , Interleukin-17/metabolism , Interleukins/metabolism , Skin/metabolism
10.
Abdom Radiol (NY) ; 47(1): 2-12, 2022 01.
Article in English | MEDLINE | ID: mdl-34554300

ABSTRACT

Despite guidelines developed to standardize the diagnosis and management of gastrointestinal (GI) bleeding, significant variability remains in recommendations and practice. The purpose of this survey was to obtain information on practice patterns for the evaluation of overt lower GI bleeding (LGIB) and suspected small bowel bleeding. A 34-question electronic survey was sent to all Society of Abdominal Radiology (SAR) members. Responses were received from 52 unique institutions (40 from the United States). Only 26 (50%) utilize LGIB management guidelines. 32 (62%) use CT angiography (CTA) for initial evaluation in unstable patients. In stable patients with suspected LGIB, CTA is the preferred initial exam at 21 (40%) versus colonoscopy at 24 (46%) institutions. CTA use increases after hours for both unstable (n = 32 vs. 35, 62% vs. 67%) and stable patients (n = 21 vs. 27, 40% vs 52%). CTA is required before conventional angiography for stable (n = 36, 69%) and unstable (n = 15, 29%) patients. 38 (73%) institutions obtain two post-contrast phases for CTA. 49 (94%) institutions perform CT enterography (CTE) for occult small bowel bleeding with capsule endoscopy (n = 26, 50%) and CTE (n = 21, 40%) being the initial test performed. 35 (67%) institutions perform multiphase CTE for occult small bowel bleeding. In summary, stable and unstable patients with overt lower GI are frequently imaged with CTA, while CTE is frequently performed for suspected occult small bowel bleeding.


Subject(s)
Capsule Endoscopy , Radiology , Gastrointestinal Hemorrhage/diagnostic imaging , Gastrointestinal Hemorrhage/therapy , Humans , Radiography, Abdominal , Tomography, X-Ray Computed/methods
11.
Mod Pathol ; 35(3): 427-437, 2022 03.
Article in English | MEDLINE | ID: mdl-34545179

ABSTRACT

Immunohistochemistry (IHC) and/or MSI-PCR (microsatellite instability-polymerase chain reaction) tests are performed routinely to detect mismatch repair deficiency (MMR-D). Classical MMR-D tumors present a loss of MLH1/PMS2 or MSH2/MSH6 with MSI-High. Other profiles of MMR-D tumors have been described but have been rarely studied. In this study, we established a classification of unusual MMR-D tumors and determined their frequency and clinical impact. All MMR-D tumors identified between 2007 and 2017 were selected. Any profile besides the classical MMR-D phenotype was defined as unusual. For patients with unusual MMR-D tumors, IHC, and PCR data were reviewed, the tumor mutation burden (TMB) was evaluated and clinical and genetic features were collected. Of the 4948 cases of MMR testing, 3800 had both the available IHC and MSI-PCR results and 585 of these had MMR-D. After reviewing the IHC and PCR, 21% of the cases initially identified as unusual MMR-D were reclassified, which resulted in a final identification of 89 unusual MMR-D tumors (15%). Unusual MMR-D tumors were more often associated with non-CRC than classical MMR-D tumors. Unusual MMR-D tumors were classified into four sub-groups: i) isolated loss of PMS2 or MSH6, ii) classical loss of MLH1/PMS2 or MSH2/MSH6 without MSI, iii) four MMR proteins retained with MSI and, iv) complex loss of MMR proteins, with clinical characteristics for each sub-group. TMB-high or -intermediate was shown in 96% of the cancers studied (24/25), which confirmed MMR deficiency. Genetic syndromes were identified in 44.9% (40/89) and 21.4% (106/496) of patients with unusual and classical MMR-D tumors, respectively (P < 0.001). Five patients treated with an immune checkpoint inhibitor (ICI) had a prolonged clinical benefit. Our classification of unusual MMR-D phenotype helps to identify MMR deficiency. Unusual MMR-D phenotype occurs in 15% of MMR-D tumors. A high frequency of genetic syndromes was noted in these patients who could benefit from ICI.


Subject(s)
Colorectal Neoplasms , DNA Mismatch Repair , Colorectal Neoplasms/genetics , Colorectal Neoplasms/pathology , Humans , Microsatellite Instability , Mismatch Repair Endonuclease PMS2/genetics , Mismatch Repair Endonuclease PMS2/metabolism , MutL Protein Homolog 1/genetics , MutL Protein Homolog 1/metabolism , MutS Homolog 2 Protein/genetics , Phenotype , Syndrome
12.
Abdom Radiol (NY) ; 47(8): 2612-2622, 2022 08.
Article in English | MEDLINE | ID: mdl-34132879

ABSTRACT

Percutaneous image-guided biopsy is an invaluable technique in the management of a myriad of different conditions; however, percutaneous access to some targets remains challenging. Trans-osseous biopsy provides safe, high-yield access to many challenging lesions in the chest, abdomen, and pelvis which might otherwise require more invasive procedures, such as mediastinoscopy or surgery to establish a histological diagnosis. Additionally, trans-osseous biopsy is well tolerated and may reduce the risk of injury to intervening vital structures as compared to other percutaneous techniques. In this article we review the indications, technical challenges, alternative techniques, and potential complications of trans-sternal, trans-costal, trans-scapular, trans-vertebral, trans-iliac, and trans-sacral biopsies.


Subject(s)
Image-Guided Biopsy , Tomography, X-Ray Computed , Abdomen , Humans , Image-Guided Biopsy/methods , Pelvis , Retrospective Studies , Tomography, X-Ray Computed/methods
13.
Radiographics ; 41(6): 1632-1656, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34597220

ABSTRACT

Gastrointestinal (GI) bleeding is a common potentially life-threatening medical condition frequently requiring multidisciplinary collaboration to reach the proper diagnosis and guide management. GI bleeding can be overt (eg, visible hemorrhage such as hematemesis, hematochezia, or melena) or occult (eg, positive fecal occult blood test or iron deficiency anemia). Upper GI bleeding, which originates proximal to the ligament of Treitz, is more common than lower GI bleeding, which arises distal to the ligament of Treitz. Small bowel bleeding accounts for 5-10% of GI bleeding cases commonly manifesting as obscure GI bleeding, where the source remains unknown after complete GI tract endoscopic and imaging evaluation. CT can aid in identifying the location and cause of bleeding and is an important complementary tool to endoscopy, nuclear medicine, and angiography in evaluating patients with GI bleeding. For radiologists, interpreting CT scans in patients with GI bleeding can be challenging owing to the large number of images and the diverse potential causes of bleeding. The purpose of this pictorial review by the Society of Abdominal Radiology GI Bleeding Disease-Focused Panel is to provide a practical resource for radiologists interpreting GI bleeding CT studies that reviews the proper GI bleeding terminology, the most common causes of GI bleeding, key patient history and risk factors, the optimal CT imaging technique, and guidelines for case interpretation and illustrates many common causes of GI bleeding. A CT reporting template is included to help generate radiology reports that can add value to patient care. An invited commentary by Al Hawary is available online. Online supplemental material is available for this article. ©RSNA, 2021.


Subject(s)
Computed Tomography Angiography , Gastrointestinal Diseases , Angiography , Endoscopy, Gastrointestinal , Gastrointestinal Hemorrhage/diagnostic imaging , Humans , Tomography, X-Ray Computed
14.
Blood Adv ; 5(22): 4590-4593, 2021 11 23.
Article in English | MEDLINE | ID: mdl-34607351

ABSTRACT

Immunomorphological diagnosis of T-cell lymphoma (TCL) may be challenging, especially on needle biopsies. Multiplex polymerase chain reaction (PCR) assays to assess T-cell receptor (TCR) gene rearrangements are now widely used to detect T-cell clones and provide diagnostic support. However, PCR assays detect only 80% of TCL, and clonal lymphocyte populations may also appear in nonneoplastic conditions. More recently, targeted next-generation sequencing (t-NGS) technologies have been deployed to improve lymphoma classification. To the best of our knowledge, the comparison of these techniques' performance in TCL diagnosis has not been reported yet. In this study, 82 TCL samples and 25 nonneoplastic T-cell infiltrates were divided into 2 cohorts (test and validation) and analyzed with both multiplex PCR and t-NGS to investigate TCR gene rearrangements and somatic mutations, respectively. The detection of mutations appeared to be more specific (100.0%) than T-cell clonality assessment (41.7%-45.5%), whereas no differences were observed in terms of sensitivity (95.1%-97.4%). Furthermore, t-NGS provided a reliable basis for TCL diagnosis in samples with partially degraded DNA that was impossible to assess with PCR. Finally, although multiplex PCR assays appeared to be less specific than t-NGS, both techniques remain complementary, as PCR recovered some t-NGS negative cases.


Subject(s)
Lymphoma, T-Cell , T-Lymphocytes , High-Throughput Nucleotide Sequencing , Humans , Lymphoma, T-Cell/diagnosis , Lymphoma, T-Cell/genetics , Polymerase Chain Reaction , Receptors, Antigen, T-Cell/genetics
15.
Med Sci Educ ; 31(6): 1895-1901, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34513261

ABSTRACT

OBJECTIVES: To assess student outcomes and experiences, as well as preceptor experiences, after emergently converting a preclinical medical school renal course to a remote setting during the COVID-19 pandemic. METHODS: First-year medical student examination scores and responses to Likert-scale questions on end-of-course evaluations from the 2018-2019 (traditional) and 2019-2020 (remote) academic years were compared. Free-text responses from students and preceptors were analyzed using a qualitative summative approach to extract major themes in perceptions of remote learning. RESULTS: Mean student scores on course examinations did not significantly differ between the traditional and remote settings (p = 0.23 and 0.84 respectively). Quantitative analysis of student evaluations revealed no significant difference across all items in mean Likert-scale responses. Student and preceptor free-text responses identified course leader engagement and responsiveness as essential to the success of remote-based learning. Optimal group size and online etiquette are areas that require attention. CONCLUSIONS: Despite rapid conversion of a preclinical medical school renal course to a remote-based format in the setting of the COVID-19 pandemic, student scores and evaluations remain positive and largely unchanged.

16.
Cancers (Basel) ; 13(12)2021 Jun 11.
Article in English | MEDLINE | ID: mdl-34208034

ABSTRACT

T-cell lymphomas (TCL) represent a very heterogeneous group of lymphoid tumors which are clearly distinct from B-cell neoplasms [...].

17.
J Invest Dermatol ; 141(9): 2197-2207, 2021 09.
Article in English | MEDLINE | ID: mdl-33766512

ABSTRACT

Hidradenitis suppurativa is a chronic inflammatory dermatosis with presentations ranging from painful nodules and abscesses to draining tunnels. Using an unbiased proteomics approach, we assessed cardiovascular-, cardiometabolic-, and inflammation-related biomarkers in the serum of patients with moderate-to-severe hidradenitis suppurativa. The serum of patients with hidradenitis suppurativa clustered separately from that of healthy controls and had an upregulation of neutrophil-related markers (Cathepsin D, IL-17A, CXCL1). Patients with histologically diagnosed dermal tunnels had higher serum lipocalin-2 levels compared with those without tunnels. Consistent with this, patients with tunnels had a more neutrophilic-rich serum signature, marked by Cathepsin D, IL-17A, and IL-17D alterations. There was a significant serum‒skin correlation between proteins in the serum and the corresponding mRNA expression in skin biopsies, with healthy-appearing perilesional skin demonstrating a significant correlation with neutrophil-related proteins in the serum. CSF3 mRNA levels in lesional skin significantly correlated with neutrophil-related proteins in the serum, suggesting that CFS3 in the skin may be a driver of neutrophilic inflammation. Clinical significantly correlated with the levels of lipocalin-2 and IL-17A in the serum. Using an unbiased, large-scale proteomic approach, we demonstrate that hidradenitis suppurativa is a systemic neutrophilic dermatosis, with a specific molecular signature associated with the presence of dermal tunnels.


Subject(s)
Hidradenitis Suppurativa/immunology , Inflammation/immunology , Neutrophils/immunology , Skin/immunology , Adult , Aged , Biomarkers/blood , Cathepsin D/blood , Chemokine CXCL1/blood , Colony-Stimulating Factors/blood , Female , Humans , Interleukin-17/blood , Male , Middle Aged , Proteome , Young Adult
18.
Pediatr Blood Cancer ; 68(6): e28982, 2021 06.
Article in English | MEDLINE | ID: mdl-33687135

ABSTRACT

In anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALK+ ALCL), positive minimal residual disease (MRD+) after the first chemotherapy course was proven of strong prognostic significance. We aimed to validate these results in 138 French patients. Eighty-seven patients had a detectable minimal disseminated disease at diagnosis (MDD+). Early MRD assessment was performed in 33 of 87 patients and was positive in 18 and negative in 15 (MRD-). Three-year progression-free survival was significantly correlated with the MDD/MRD status: 81.1% in MDD-, 69.6% in MDD+/MRD-, and 15.2% in MDD+/MRD+ patients. In conclusion, we confirmed on an independent cohort that the MDD/MRD status has strong prognosis significance in ALK+ ALCL.


Subject(s)
Anaplastic Lymphoma Kinase/metabolism , Lymphoma, Large-Cell, Anaplastic/drug therapy , Lymphoma, Large-Cell, Anaplastic/pathology , Neoplasm, Residual/pathology , Anaplastic Lymphoma Kinase/genetics , Antineoplastic Agents/therapeutic use , Humans , Lymphoma, Large-Cell, Anaplastic/genetics , Progression-Free Survival
19.
Top Magn Reson Imaging ; 30(1): 13-22, 2021 Feb 01.
Article in English | MEDLINE | ID: mdl-33528208

ABSTRACT

ABSTRACT: Magnetic resonance enterography (MRE) is a powerful tool for evaluation and management of patients with Crohn disease. Changes of active inflammation of the small bowel can reliably and reproducibly be detected and monitored. Findings indicative of active inflammation include bowel wall thickening, intramural edema and mural hyperenhancement. These changes are most commonly reported qualitatively; however, quantitative indices have also been developed and validated to measure and monitor inflammation both for clinical care and research purposes. This article describes the essential findings of active inflammation on MRE as well as the fundamentals of both qualitative and quantitative assessment and reporting.


Subject(s)
Gastrointestinal Diseases/diagnostic imaging , Magnetic Resonance Imaging/methods , Humans , Inflammation/diagnostic imaging
20.
J Mol Diagn ; 23(2): 131-139, 2021 02.
Article in English | MEDLINE | ID: mdl-33246076

ABSTRACT

In ALK-positive anaplastic large-cell lymphomas, positive qualitative PCR for NPM1-anaplastic lymphoma kinase (ALK) in peripheral blood and/or bone marrow at diagnosis and during treatment are associated with a higher risk of treatment failure. Real-time quantitative PCR allows identification of very high risk patients. However, this latter technique initially designed for patients with lymphomas carrying the most frequent NPM1-ALK translocation necessitates calibration curves, limiting interlaboratory reproducibility. An ALK universal quantitative PCR based on 3'ALK transcript amplification was designed to allow the detection of all ALK fusion transcripts. The absolute concordance of 3'ALK quantitative PCR results were validated with the routine NPM1-ALK qualitative and quantitative PCR on 46 samples. The universality of ALK fusion transcript detection also was validated on TPM3-, ALO17-, and ATIC-ALK-positive samples, and the EML4-ALK-positive cell line. Digital droplet PCR using the 3'ALK universal probe showed highly concordant results with 3'ALK universal quantitative PCR. A major benefit of digital droplet PCR is a reduced experimental set-up compared with quantitative PCR, without generation of standard curves, leading to a reliable protocol for multilaboratory validation in multicenter clinical trials essential for this rare pathology. Our ALK universal method could be used for the screening of ALK fusion transcripts in liquid biopsy specimens of other ALK-positive tumors, including non-small cell lung carcinomas.


Subject(s)
Anaplastic Lymphoma Kinase/metabolism , Enzyme Assays , Lymphoma, Large-Cell, Anaplastic/enzymology , Lymphoma, Large-Cell, Anaplastic/genetics , Molecular Probes/metabolism , Neoplasm, Residual/diagnosis , Real-Time Polymerase Chain Reaction , Cell Line, Tumor , Gene Dosage , Humans , Neoplasm, Residual/genetics , Nucleophosmin , Reproducibility of Results
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