Pub Date : 2025-11-12DOI: 10.1016/j.pathol.2025.09.004
Jun Yen Ng , Samuel K. Bennett
{"title":"Acute myeloid leukaemia with the type I CBFB::MYH11 fusion: a rare transcript with atypical pathological features","authors":"Jun Yen Ng , Samuel K. Bennett","doi":"10.1016/j.pathol.2025.09.004","DOIUrl":"10.1016/j.pathol.2025.09.004","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 1","pages":"Pages 109-113"},"PeriodicalIF":3.0,"publicationDate":"2025-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145743683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-30DOI: 10.1016/j.pathol.2025.08.012
Sarah A.M. Smith , Rebecca J. Rockett , Shahin Oftadeh , Vitali Sintchenko
Invasive pneumococcal disease (IPD) is a major cause of morbidity and mortality worldwide, particularly in children and the elderly. Recurrent IPD (rIPD) is more challenging to manage and differentiate between re-infection with a new strain of Streptococcus pneumoniae, and relapse associated with host immunodeficiency or unrecognised antimicrobial resistance (AMR). This study examined genomic features of S. pneumoniae associated with rIPD. A set of 140 S. pneumoniae isolates from 67 patients with rIPD was investigated. All isolates were subjected to Quellung serotyping and whole-genome sequencing to determine episodes of rIPD relapse and reinfection and to identify AMR genes. In the first and second episodes, 33 (49%) of cases of rIPD were associated with different serotypes of S. pneumoniae and were classified as reinfections. In 34 cases, both presentations were caused by S. pneumoniae of the same serotype. Genomic comparison of pneumococci associated with these rIPD episodes indicated that a further 7% (5/67) were reinfections and the rest (29 cases of rIPD; 43%) were cases of relapse caused by genomically closely related strains. rIPD cases with over 6000 mutations between core genome in S. pneumoniae were classified as reinfection, while endogenous relapse cases were characterised by fewer than 34 mutations between the core genomes of S. pneumoniae. rIPD recurrence within a year was more likely to be a relapse than a reinfection. Relapse cases were more likely to have AMR markers present in the initial episode, with no significant evidence of AMR acquisition between episodes. These findings suggest a role for S. pneumoniae genome sequence analysis in differentiating endogenous relapse from exogenous reinfection in rIPD to inform clinical management and public health follow-up.
{"title":"Genomic features of Streptococcus pneumoniae associated with recurrent invasive pneumococcal disease","authors":"Sarah A.M. Smith , Rebecca J. Rockett , Shahin Oftadeh , Vitali Sintchenko","doi":"10.1016/j.pathol.2025.08.012","DOIUrl":"10.1016/j.pathol.2025.08.012","url":null,"abstract":"<div><div>Invasive pneumococcal disease (IPD) is a major cause of morbidity and mortality worldwide, particularly in children and the elderly. Recurrent IPD (rIPD) is more challenging to manage and differentiate between re-infection with a new strain of <em>Streptococcus pneumoniae,</em> and relapse associated with host immunodeficiency or unrecognised antimicrobial resistance (AMR). This study examined genomic features of <em>S. pneumoniae</em> associated with rIPD. A set of 140 <em>S. pneumoniae</em> isolates from 67 patients with rIPD was investigated. All isolates were subjected to Quellung serotyping and whole-genome sequencing to determine episodes of rIPD relapse and reinfection and to identify AMR genes. In the first and second episodes, 33 (49%) of cases of rIPD were associated with different serotypes of <em>S. pneumoniae</em> and were classified as reinfections. In 34 cases, both presentations were caused by <em>S. pneumoniae</em> of the same serotype. Genomic comparison of pneumococci associated with these rIPD episodes indicated that a further 7% (5/67) were reinfections and the rest (29 cases of rIPD; 43%) were cases of relapse caused by genomically closely related strains. rIPD cases with over 6000 mutations between core genome in <em>S. pneumoniae</em> were classified as reinfection, while endogenous relapse cases were characterised by fewer than 34 mutations between the core genomes of <em>S. pneumoniae</em>. rIPD recurrence within a year was more likely to be a relapse than a reinfection. Relapse cases were more likely to have AMR markers present in the initial episode, with no significant evidence of AMR acquisition between episodes. These findings suggest a role for <em>S. pneumoniae</em> genome sequence analysis in differentiating endogenous relapse from exogenous reinfection in rIPD to inform clinical management and public health follow-up.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 1","pages":"Pages 89-96"},"PeriodicalIF":3.0,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145637393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The evolving pathological features of panniculitis make biopsy timing critical. This study explores clinicopathological concordance and the role of biopsy timing and non-invasive laboratory parameters in predicting histopathological findings in erythema nodosum (EN). Our retrospective study analysed the clinical and pathological features of all clinically suspected and/or histopathologically diagnosed panniculitis cases over a period of 3.5 years. The week of biopsy, total leukocyte count, neutrophil-to-lymphocyte ratio, neutrophil-to-monocyte ratio, erythrocyte sedimentation rate (ESR), and their impact on histopathological features were analysed. The clinicopathological concordance was 61.4% for panniculitis overall (n=69) and 66.2% for EN (n=30). Cohen's kappa showed fair agreement for EN (κ=0.318). The sensitivity of clinical diagnosis for EN was 70%, with a specificity of 64%. The odds of getting small-sized adipocytes, fat necrosis, septal fibrosis, and vasculopathic changes were 1.872, 1.565, 1.361, and 1.235, respectively, for every 1-week rise in biopsy timing. An inverse correlation was found between granuloma formation and elevated ESR (p=0.037). Recurrence of EN was significantly associated with granuloma presence (p=0.045). This study evaluates the clinicopathological concordance, sensitivity, specificity, and precision of clinical diagnoses in cases of panniculitis. This study highlights the importance of objectively understanding the temporal heterogeneity in EN’s pathological features over time.
{"title":"Clinicopathological concordance across panniculitis: biopsy timing and laboratory parameters in predicting temporal variability and histopathological features in erythema nodosum","authors":"Ajit Sahu, Madhusmita Sethy, Biswanath Behera, Gaurav Chhabra, Somanath Padhi, Pavithra Ayyanar","doi":"10.1016/j.pathol.2025.08.011","DOIUrl":"10.1016/j.pathol.2025.08.011","url":null,"abstract":"<div><div>The evolving pathological features of panniculitis make biopsy timing critical. This study explores clinicopathological concordance and the role of biopsy timing and non-invasive laboratory parameters in predicting histopathological findings in erythema nodosum (EN). Our retrospective study analysed the clinical and pathological features of all clinically suspected and/or histopathologically diagnosed panniculitis cases over a period of 3.5 years. The week of biopsy, total leukocyte count, neutrophil-to-lymphocyte ratio, neutrophil-to-monocyte ratio, erythrocyte sedimentation rate (ESR), and their impact on histopathological features were analysed. The clinicopathological concordance was 61.4% for panniculitis overall (<em>n</em>=69) and 66.2% for EN (<em>n</em>=30). Cohen's kappa showed fair agreement for EN (κ=0.318). The sensitivity of clinical diagnosis for EN was 70%, with a specificity of 64%. The odds of getting small-sized adipocytes, fat necrosis, septal fibrosis, and vasculopathic changes were 1.872, 1.565, 1.361, and 1.235, respectively, for every 1-week rise in biopsy timing. An inverse correlation was found between granuloma formation and elevated ESR (<em>p</em>=0.037). Recurrence of EN was significantly associated with granuloma presence (<em>p</em>=0.045). This study evaluates the clinicopathological concordance, sensitivity, specificity, and precision of clinical diagnoses in cases of panniculitis. This study highlights the importance of objectively understanding the temporal heterogeneity in EN’s pathological features over time.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 1","pages":"Pages 52-58"},"PeriodicalIF":3.0,"publicationDate":"2025-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145725165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-28DOI: 10.1016/j.pathol.2025.08.010
Kay Weng Choy , Shayna Hickey , Tze Ping Loh
Since the 1970s, albumin-adjusted calcium has been widely used to approximate ionised calcium concentrations, particularly in patients with abnormal serum albumin levels. This adjustment was introduced to mitigate misclassification of calcium status when direct measurement of ionised calcium (technically demanding and resource-intensive at that time) was unavailable. Despite its historical utility, emerging evidence has highlighted significant limitations. This review critically examines the validity and clinical utility of adjusted calcium, with a focus on specific populations such as the elderly, critically ill, and those with kidney disease, in whom albumin derangement is more common. Adjusted calcium assumes stable ionised calcium levels across varying albumin concentrations and overlooks key modifiers such as pH, phosphate, lactate, and between-assay variability. Multiple studies demonstrate that adjusted calcium does not outperform unadjusted total calcium and may misclassify calcium status, particularly in patients with hypoalbuminaemia and impaired kidney function. Further limitations include variability in albumin assays and the derivation of adjustment formulas from non-representative populations. Adjusted calcium offers limited diagnostic value and should not replace ionised calcium where accurate assessment is essential. A reflex testing strategy, using total calcium as a screening tool, followed by ionised calcium testing when indicated, may provide a more reliable and pragmatic approach. Laboratory professionals and clinicians should recognise the considerable analytical and clinical limitations of adjusted calcium and interpret results with caution.
{"title":"A contemporary review of the limitations of adjusted calcium in clinical practice","authors":"Kay Weng Choy , Shayna Hickey , Tze Ping Loh","doi":"10.1016/j.pathol.2025.08.010","DOIUrl":"10.1016/j.pathol.2025.08.010","url":null,"abstract":"<div><div>Since the 1970s, albumin-adjusted calcium has been widely used to approximate ionised calcium concentrations, particularly in patients with abnormal serum albumin levels. This adjustment was introduced to mitigate misclassification of calcium status when direct measurement of ionised calcium (technically demanding and resource-intensive at that time) was unavailable. Despite its historical utility, emerging evidence has highlighted significant limitations. This review critically examines the validity and clinical utility of adjusted calcium, with a focus on specific populations such as the elderly, critically ill, and those with kidney disease, in whom albumin derangement is more common. Adjusted calcium assumes stable ionised calcium levels across varying albumin concentrations and overlooks key modifiers such as pH, phosphate, lactate, and between-assay variability. Multiple studies demonstrate that adjusted calcium does not outperform unadjusted total calcium and may misclassify calcium status, particularly in patients with hypoalbuminaemia and impaired kidney function. Further limitations include variability in albumin assays and the derivation of adjustment formulas from non-representative populations. Adjusted calcium offers limited diagnostic value and should not replace ionised calcium where accurate assessment is essential. A reflex testing strategy, using total calcium as a screening tool, followed by ionised calcium testing when indicated, may provide a more reliable and pragmatic approach. Laboratory professionals and clinicians should recognise the considerable analytical and clinical limitations of adjusted calcium and interpret results with caution.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 2","pages":"Pages 148-155"},"PeriodicalIF":3.0,"publicationDate":"2025-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145637390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-24DOI: 10.1016/j.pathol.2025.07.009
Jing Jing Li , Jawad Saab , Victoria Bray , Jonathan Williamson , Abhijit Pal , Po Yee Yip , Pei Ding , Shalini K. Vinod , Bruce French , Chee Lee , Ruta Gupta , Wendy A. Cooper , Bin Wang , C. Soon Lee
MET exon 14 skipping mutation (METex14) is a key oncogenic driver in 2% of non-small cell lung carcinoma (NSCLC) and is enriched in sarcomatoid carcinoma (SAC). However, the prevalence and significance of METex14 NSCLC in the Australian population is not known. We evaluated the incidence, clinical, molecular, and histopathological features of METex14 and SAC cases in an Australian tertiary referral centre. We retrospectively analysed clinical, molecular, histopathological, and immunohistochemical data of NSCLC cases undergoing DNA and/or RNA fusion panel next-generation sequencing (NGS) between 1 July 2021 and 15 May 2024. Among 1267 NSCLC, 880 (69%) cases had DNA NGS only, 359 (28%) cases had both DNA NGS and RNA fusion panel, and 28 (2%) cases had RNA fusion panel only. Overall, 29 (2.3%) cases had METex14, 14 (1.1%) had MET amplification, and 10 (0.8%) had MET R988C. Of the 29 METex14 patients, 15 (52%) were women and 14 (48%) were men. METex14 patients were older than those who were MET wild-type, or with EGFR or KRAS mutations (median age 76 vs 71, 69, and 71, respectively) and were less likely to be smokers than KRAS-mutated cases (58% vs 92%, p<0.0001). Most METex14 cases were adenocarcinomas (76%), with 14% classified as SAC. Programmed death-ligand 1 (PD-L1) expression was higher in METex14 than in EGFR-mutated cases. Median survival for METex14 patients was 26 months (stage I), not reached (stage II), 8 months (stage III), and 3.5 months (stage IV). Among 28 SAC cases, 57% harboured oncogenic mutations, including KRAS (18%), METex14 (14%), BRAF V600E (7%), and EGFR exon 19 deletion (4%). SAC exhibited significantly higher PD-L1 expression (mean tumour proportion score 71 vs 30, p<0.0001) and a greater proportion of high PD-L1 expressors (82% vs 30%, p<0.0001) than other NSCLC subtypes. Stage IV SAC patients had a median survival of only 2 months. In summary, in our cohort of NSCLC, METex14 mutation was found in 2% of cases using DNA NGS alone and up to 3% when both DNA NGS and RNA fusion panel testing were employed. METex14 mutations were more common in elderly patients, with an equal gender distribution and a high proportion of non-smokers. While most cases were adenocarcinomas, SAC was enriched for METex14. SAC was an aggressive NSCLC subtype, with KRAS and METex14 as the most common driver mutations. Given the high prevalence of PD-L1 expression in SAC, further research on immunotherapy efficacy in this group is warranted.
{"title":"Histopathological associations, molecular findings and clinical outcomes of patients with non-small cell lung carcinoma with MET alterations: a 3-year retrospective Australian case series","authors":"Jing Jing Li , Jawad Saab , Victoria Bray , Jonathan Williamson , Abhijit Pal , Po Yee Yip , Pei Ding , Shalini K. Vinod , Bruce French , Chee Lee , Ruta Gupta , Wendy A. Cooper , Bin Wang , C. Soon Lee","doi":"10.1016/j.pathol.2025.07.009","DOIUrl":"10.1016/j.pathol.2025.07.009","url":null,"abstract":"<div><div><em>MET</em> exon 14 skipping mutation (<em>MET</em>ex14) is a key oncogenic driver in 2% of non-small cell lung carcinoma (NSCLC) and is enriched in sarcomatoid carcinoma (SAC). However, the prevalence and significance of <em>MET</em>ex14 NSCLC in the Australian population is not known. We evaluated the incidence, clinical, molecular, and histopathological features of <em>MET</em>ex14 and SAC cases in an Australian tertiary referral centre. We retrospectively analysed clinical, molecular, histopathological, and immunohistochemical data of NSCLC cases undergoing DNA and/or RNA fusion panel next-generation sequencing (NGS) between 1 July 2021 and 15 May 2024. Among 1267 NSCLC, 880 (69%) cases had DNA NGS only, 359 (28%) cases had both DNA NGS and RNA fusion panel, and 28 (2%) cases had RNA fusion panel only. Overall, 29 (2.3%) cases had <em>MET</em>ex14, 14 (1.1%) had <em>MET</em> amplification, and 10 (0.8%) had <em>MET</em> R988C. Of the 29 <em>MET</em>ex14 patients, 15 (52%) were women and 14 (48%) were men. <em>MET</em>ex14 patients were older than those who were <em>MET</em> wild-type, or with <em>EGFR</em> or <em>KRAS</em> mutations (median age 76 vs 71, 69, and 71, respectively) and were less likely to be smokers than <em>KRAS</em>-mutated cases (58% vs 92%, <em>p</em><0.0001). Most <em>MET</em>ex14 cases were adenocarcinomas (76%), with 14% classified as SAC. Programmed death-ligand 1 (PD-L1) expression was higher in <em>MET</em>ex14 than in <em>EGFR</em>-mutated cases. Median survival for <em>MET</em>ex14 patients was 26 months (stage I), not reached (stage II), 8 months (stage III), and 3.5 months (stage IV). Among 28 SAC cases, 57% harboured oncogenic mutations, including <em>KRAS</em> (18%), <em>MET</em>ex14 (14%), <em>BRAF</em> V600E (7%), and <em>EGFR</em> exon 19 deletion (4%). SAC exhibited significantly higher PD-L1 expression (mean tumour proportion score 71 vs 30, <em>p</em><0.0001) and a greater proportion of high PD-L1 expressors (82% vs 30%, <em>p</em><0.0001) than other NSCLC subtypes. Stage IV SAC patients had a median survival of only 2 months. In summary, in our cohort of NSCLC, <em>MET</em>ex14 mutation was found in 2% of cases using DNA NGS alone and up to 3% when both DNA NGS and RNA fusion panel testing were employed. <em>MET</em>ex14 mutations were more common in elderly patients, with an equal gender distribution and a high proportion of non-smokers. While most cases were adenocarcinomas, SAC was enriched for <em>MET</em>ex14. SAC was an aggressive NSCLC subtype, with <em>KRAS</em> and <em>MET</em>ex14 as the most common driver mutations. Given the high prevalence of PD-L1 expression in SAC, further research on immunotherapy efficacy in this group is warranted.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 1","pages":"Pages 41-51"},"PeriodicalIF":3.0,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145557336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-23DOI: 10.1016/j.pathol.2025.08.009
Siobhan E.M. Brodrick , Ego Seeman
The definition of deficiency or insufficiency of vitamin D remains challenging because currently used thresholds of <30 nmol/L and between 30 and either 50 or 75 nmol/L are not consistently associated with clinical or biochemical abnormalities suggestive of secondary hyperparathyroidism, compromised bone volume, microarchitecture, or osteomalacia. Indeed, there is little convincing clinical, biochemical, bone densitometric, microarchitectural, or histomorphometric evidence that 25-hydroxyvitamin D [25(OH)D] levels between 30 and 75 nmol/L in community dwellers identify a vitamin D ‘insufficiency’ disease. There is evidence of modest elevations of serum parathyroid hormone in a minority of individuals with 25(OH)D level <30 nmol/L, alerting to the possibility of a ‘deficiency’ state. However, even at this level of ‘deficiency’, most individuals have no biochemical or bone structural abnormalities. Meta-analyses of studies grouped according to commonality in dosage of vitamin D, with or without calcium supplementation, are used to make inferences concerning the correct treatment regimens, but confounders make these inferences problematic. Few well-designed and well-executed placebo-controlled studies have tested the antifracture efficacy and safety of different doses of vitamin D or conducted factorial-designed placebo-controlled trials comparing vitamin D plus calcium supplements versus either drug alone. By contrast, it is likely that there is a vitamin D deficiency state compromising bone health in residents of nursing homes and patients with limited sunlight exposure, malnutrition, or malabsorption. These circumstances signal the possibility of emerging or established bone disease requiring investigation and supplementation if appropriate.
维生素D缺乏或不足的定义仍然具有挑战性，因为目前使用的阈值是
{"title":"Vitamin D insufficiency and deficiency: in search of a bone disease","authors":"Siobhan E.M. Brodrick , Ego Seeman","doi":"10.1016/j.pathol.2025.08.009","DOIUrl":"10.1016/j.pathol.2025.08.009","url":null,"abstract":"<div><div>The definition of deficiency or insufficiency of vitamin D remains challenging because currently used thresholds of <30 nmol/L and between 30 and either 50 or 75 nmol/L are not consistently associated with clinical or biochemical abnormalities suggestive of secondary hyperparathyroidism, compromised bone volume, microarchitecture, or osteomalacia. Indeed, there is little convincing clinical, biochemical, bone densitometric, microarchitectural, or histomorphometric evidence that 25-hydroxyvitamin D [25(OH)D] levels between 30 and 75 nmol/L in community dwellers identify a vitamin D ‘insufficiency’ disease. There is evidence of modest elevations of serum parathyroid hormone in a minority of individuals with 25(OH)D level <30 nmol/L, alerting to the possibility of a ‘deficiency’ state. However, even at this level of ‘deficiency’, most individuals have no biochemical or bone structural abnormalities. Meta-analyses of studies grouped according to commonality in dosage of vitamin D, with or without calcium supplementation, are used to make inferences concerning the correct treatment regimens, but confounders make these inferences problematic. Few well-designed and well-executed placebo-controlled studies have tested the antifracture efficacy and safety of different doses of vitamin D or conducted factorial-designed placebo-controlled trials comparing vitamin D plus calcium supplements versus either drug alone. By contrast, it is likely that there is a vitamin D deficiency state compromising bone health in residents of nursing homes and patients with limited sunlight exposure, malnutrition, or malabsorption. These circumstances signal the possibility of emerging or established bone disease requiring investigation and supplementation if appropriate.</div></div>","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 2","pages":"Pages 156-162"},"PeriodicalIF":3.0,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145637431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-22DOI: 10.1016/j.pathol.2025.08.008
Nike Kwai Cheung Lau , Tammy Tsz Yan Tong , Lois Lok Yee Choy , Yeow Kuan Chong , Chor Kwan Ching
{"title":"Detection of SLCO1B3 intron 6 LINE-1 insertion by Nanopore Flongle Amplicon Sequencing in the first genetically confirmed Rotor syndrome patient in Hong Kong","authors":"Nike Kwai Cheung Lau , Tammy Tsz Yan Tong , Lois Lok Yee Choy , Yeow Kuan Chong , Chor Kwan Ching","doi":"10.1016/j.pathol.2025.08.008","DOIUrl":"10.1016/j.pathol.2025.08.008","url":null,"abstract":"","PeriodicalId":19915,"journal":{"name":"Pathology","volume":"58 1","pages":"Pages 140-143"},"PeriodicalIF":3.0,"publicationDate":"2025-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145574205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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