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PubMed2026

Clinical Utility of Next-Generation Sequencing in Tumors Diagnosed as Lung Squamous Cell Carcinoma: Real-World Data of Diagnostic and Therapeutic Implications.

Lung squamous cell carcinoma (LUSC) is the second most common subtype of non-small cell lung carcinoma (NSCLC), typically associated with a poor prognosis. Unlike lung adenocarcinoma, the application of next-generation sequencing (NGS) in LUSC has lagged because of the long-standing perception of low therapeutic yield, primarily based on highly selected, resected cohorts. We sought to determine the real-world clinical utility of NGS in LUSC. We analyzed an institutional cohort of 576 tumors initially diagnosed as LUSC that underwent NGS profiling. We defined "clinical yield" as either diagnostic reclassification or the identification of a targetable mitogenic alteration. Twenty cases (3.5%) were reclassified, including rediagnosis to cutaneous squamous cell carcinoma, transformed adenocarcinoma (post targeted therapy), and rare entities such as nuclear protein of the testis-rearranged carcinoma and lymphoepithelial carcinoma. Primary mitogenic drivers were identified in 83 cases (14.4% of the total cohort), of which 43 (7.5% of the total cohort) harbored alterations with currently Food and Drug Administration-approved therapies for NSCLC (including KRAS, EGFR, MET, ALK, and ROS1). Overall clinical yield-defined as the sum of diagnostic reclassifications and identification of NSCLC-specific targetable alterations-was 11.0% (63/576). Univariate and multivariate analysis demonstrated that never or light smoking history was the strongest independent predictor of clinical yield, with 57.3% of tumors in this subset being reclassified or harboring a strong driver. Our findings demonstrate that NGS provides significant diagnostic and therapeutic value in a real-world LUSC cohort, challenging the historical premise of low yield. Although clinicodemographic features can help prioritize testing in resource-limited settings, the identification of targetable drivers across all smoking groups supports the universal application of comprehensive NGS for all patients diagnosed with LUSC.

Humans↗

PubMed2006

Sodium hyaluronate eye drops prevent late-onset bleb leakage after trabeculectomy with mitomycin C.

PURPOSE: To evaluate the efficacy of sodium hyaluronate eye drops for prevention of late-onset bleb leakage after trabeculectomy with mitomycin C (MMC). METHODS: Sixty-eight patients (68 eyes) who had trabeculectomy with MMC from March 1995 to February 2002 at the Marui Eye Clinic or the Department of Ophthalmology, Fukushima Medical University Hospital were examined in this study. Twenty-two were treated postoperatively with sodium hyaluronate eye drops (sodium hyaluronate group) and 46 eyes were not treated postoperatively (control group). The blebs were classified according to the avascular area, epithelial defect and degree of bleb wall leakage. Both groups were assigned classes (0, avascular or partial avascular bleb; 1, avascular or partial avascular bleb with an epithelial defect; 2, avascular or partial avascular bleb with oozing; 3, avascular or partial avascular bleb with a point of leakage). RESULTS: Follow-up duration ranged from 10 to 116 months (mean+/-SD, 57.6+/-30.5). The incidence of reclassification from class 1 to class 0 was significantly greater in the sodium hyaluronate group (four of six class 1 eyes improved to class 0 after application of sodium hyaluronate eye drops) than in the control group (zero of 10 eyes) (P=0.008). And, the incidence of reclassification from class 1 to class 2 or class 3 was significantly smaller in the sodium hyaluronate group (one of six eyes) than in the control group (nine of 10 eyes) (P=0.008). CONCLUSIONS: Sodium hyaluronate eye drops may prevent late-onset bleb leakage after trabeculectomy with MMC.

Adult↗

PubMed2004

A prospective comparison of fine-needle aspiration cytology and histopathology in the diagnosis and classification of lymphomas.

INTRODUCTION: Surgical biopsy examination is the gold standard for lymphoma diagnostics. However, fine-needle aspiration cytology (FNAC) offers several advantages in that it is quick, inexpensive, and the aspiration procedure has very few complications. This prospective study compares the diagnostic outcome between FNAC and surgical biopsy. MATERIALS AND METHODS: A total of 103 patients (>15 years) with lymphadenopathy and accessible lymph nodes underwent both diagnostic procedures. Immunophenotyping was performed on both FNAC and histopathological specimens. The updated KIEL classification was used for primary diagnosis and the WHO classification for reclassification. RESULTS: FNAC- and histopathology-based diagnoses were concordant in 76 patients. In 10 patients, there was a major diagnostic discordance: four differed with regard to degree of malignancy (low- versus high-grade NHL), three lymphoma versus reactive changes, and three regarding Hodgkin's lymphoma versus anaplastic large cell lymphoma. In 10 patients there was some (minor) discordance regarding subclassification: in eight patients the results of immunophenotyping differed, in two cases there were discrepancies in the cell type classification. In the remaining seven cases, there were diagnostic difficulties due to an insufficient sample. two serious adverse events occurred following surgical biopsy. CONCLUSIONS: FNAC is an accurate method in the diagnosis of lymphomas when the cytologic diagnosis is corroborated by immunophenotyping. However, an increasing use of FNAC for primary diagnosis and classification of lymphomas may result in a loss of archival tissue for complementary analyses, reclassification, and research purposes. In addition, some of the lymphoma entities are impossible to diagnose with use of the FNAC technique.

Aged↗

PubMed2000

Type 1 von Willebrand disease - a clinical retrospective study of the diagnosis, the influence of the ABO blood group and the role of the bleeding history.

This clinical retrospective study investigated the difficulties in diagnosing type 1 von Willebrand disease (VWD). A total of 246 patients previously diagnosed with type 1 VWD were reclassified into 'possible' type 1 VWD (patients with low levels of VWF adjusted for the blood group and either a significant bleeding history or family history) and 'definite' type 1 VWD, requiring low levels of von Willebrand factor (VWF), a bleeding history and inheritance. On reclassification, only 144/246 (59%) patients had low VWF levels adjusted for blood group, 88/246 (36%) patients met all the criteria for 'definite' type 1 VWD and 51/246 (21%) patients were 'possible' type 1 VWD. A significant proportion of patients, 102/246 (42%), remained an indeterminate group with blood type O, VWF levels between 35 and 50 U/dl and personal and/or family bleeding history. This subgroup might require reclassification as 'not VWD'. However, a similar bleeding tendency was found in two matched groups of patients of blood groups O and non-O and VWF levels between 35 and 50 U/dl. These results suggest that the use of ABO adjusted ranges for VWF levels might not be essential for diagnosis, because bleeding symptoms may depend on the VWF level regardless of the ABO type. Of the diagnostic criteria, the bleeding history was of prime importance in the clinical decision to diagnose and treat type 1 VWD. These observations could help in the reconsideration of how the criteria for diagnosing type 1 VWD could be adjusted in order to maximize their clinical relevance.

ABO Blood-Group System↗

PubMed2002

Clinicopathologic reassessment of non-mycosis fungoides primary cutaneous lymphomas during 17 years.

BACKGROUND: New classification systems have recently been proposed for primary cutaneous lymphomas (PCLs). The aim of our study was to evaluate the applicability and significance of the new classification systems to the diagnosis and management of non-mycosis fungoides (non-MF) PCL. METHODS: Immunohistochemical restaining, histological reclassification, and clinical follow-up of all new non-MF PCL cases during 17 consecutive years were performed. The histological reclassification was performed according to the Revised European-American Lymphoma (REAL) classification, except for lymphomatoid papulosis (Lyp), which was included as an indolent lymphoma, according to the European Organization for the Research and Treatment of Cancer (EORTC) classification. RESULTS: During the period 1983-99, 251 new PCL cases were seen, 213 (85%) of which were MF and Sézary syndrome (eight cases), and 38 (15%) of which were non-MF. Of the latter, 20 (53%) were B-cell lymphomas, including eight (40%) follicle center lymphoma, follicular (FCLF), eight (40%) marginal zone lymphoma (MZL), two (10%) diffuse large cell lymphoma, and two (10%) unclassifiable cases. Most or all of the lesions did not stain for CD10, CD43, and bcl-2 protein, and immunostaining for kappa and lambda immunoglobulin light chain restriction was much more useful diagnostically in MZL. Of the 18 primary non-MF cutaneous T-cell lymphomas, 13 (72%) were Lyp, all of which were type A, four (22%) were CD30+ anaplastic large cell lymphoma, and one (6%) was natural killer (NK)/T-cell lymphoma. Except for the NK/T-cell lymphoma, all the other non-MF PCLs had an indolent course. CONCLUSIONS: A minority of the routinely diagnosed PCLs are non-MF, equally divided between B- and T-cell lymphomas. The REAL classification is applicable to the majority, although it does not include entities such as Lyp; the clinical correlations are not as obvious because most of the non-MF PCLs tend to have a relatively indolent course.

Adolescent↗

PubMed1996

[Correlation between symptoms and diagnosis in pharmacotherapeutic decision process].

Evaluation of influence of psychopathological symptoms (AMDP System) and diagnosis (ICD-9) on the choice of drug therapy (neuroleptics or antidepressants) for psychiatric in-patients was the aim of this work. Statistical analysis of 3745 patients led to three different decision-making procedures. These procedures are based on symptoms or diagnoses alone or on both symptoms and diagnosis. CART-Analysis was used for statistical analysis. Reclassification errors for neuroleptics were always larger than reclassification errors for antidepressants. The results show that both symptoms (error neuroleptics 20.2%, respectively antidepressants 15.0%) and diagnosis (20.8%, resp. 11.9%) alone are not sufficient to explain the choice of drug therapy. Lowest error rates were gained in a hierarchical model for the choice of drug treatment where both diagnosis and symptoms were used (17.1%, resp. 10.1%).

Antidepressive Agents↗

PubMed1994

[Fluoroscopically guided percutaneous fine-needle biopsy of the lung using the ROTEX needle: results in 890 patients with focal lung lesions].

Fluoroscopically guided transthoracic fine needle biopsies were performed in 890 patients (380 female, 582 male, mean age: 56 years). In 795 patients (89.4%) the first biopsy was successful. The success rate of biopsy correlated closely with the size of the lesion and increased with larger size. Sensitivity in the diagnosis of malignant lesions was 94.6%, specificity 99.5%. Due to cytological, histological, and clinical confirmation of benign lung lesions in 300 patients (33.7% of all patients), the number of unnecessary diagnostic thoracotomies for benign disease could be reduced significantly. In 9 of 113 cases (8%) histological reclassification of the cytologic results was necessary. Reclassification was not necessary in the differentiation between benign and malignant lesions and between small cell and non-small cell carcinomas. The overall complication rate was 24.7% (220 patients). Only 36 patients (4% of all patients) required chest-tube insertion. There were no fatal complications. Percutaneous fluoroscopically guided transthoracic fine needle biopsy of the lung, performed with the Rotex needle, is a time-effective, safe, and efficient method for diagnosing focal pulmonary lesions.

Adenocarcinoma↗

PubMed1997

Redefining the growth of the heterosexual HIV/AIDS epidemic in Chicago.

UNLABELLED: A dramatic shift in the relative distribution of the five categories of heterosexual transmission for AIDS cases diagnosed in Chicago since 1991 prompted a mode-of-transmission validation study of what had become the most frequently reported heterosexual exposure: heterosexual relations with a person with AIDS (PWA) or documented HIV infection whose risk is not specified. METHODS: For 395 cases with originally reported heterosexual exposure, one or more of three supplemental data sources were employed: medical records were reviewed, medical providers were interviewed, and patients or proxies (i.e., spouse, significant other, or family member) were interviewed when possible. When reported HIV exposure could not be validated or reclassified, the transmission category employed was "no identifiable risk" (NIR). RESULTS: Eighty-five percent (336 of 395 cases) were reclassified into different transmission categories. Most notably, 69% (272 of 395 cases) were reclassified into transmission categories that did not involve heterosexual contact, including NIR. The cumulative percentage of cases attributable to heterosexual contact declined from 8% to 5% as a result of reclassification. Additionally, reclassification resulted in a reduction of nearly 50% in the number of AIDS cases attributable to heterosexual contact diagnosed in 1993 and 1994. CONCLUSIONS: In Chicago, an emerging problem in AIDS surveillance appears to be the use of an ambiguous heterosexual exposure category as a default when other information is not readily available. This study has found the growth in AIDS cases among persons exposed to HIV through heterosexual contact to be much slower than previously perceived. This finding may have important implications for the national debate over the extent to which heterosexual people are being infected and how funding and prevention strategies should be prioritized.

Acquired Immunodeficiency Syndrome↗

PubMedDate not supplied

Reclassifying infusion therapy space at the University of Arizona: a case study.

This case study focused on reclassifying infusion therapy space at the University of Arizona Medical Center to a physician-based treatment setting. The study followed the managerial decision-making process as it described how the space reclassification was recommended, adopted, and implemented. A successful reclassification required close attention to organizational structure, administrative policies and responsibilities, and related work-flow processes.

Academic Medical Centers↗

PubMed1996

Proposal for two new genera, Brevibacillus gen. nov. and Aneurinibacillus gen. nov.

16S rRNA gene sequences of the type strains of 11 species belonging to the Bacillus brevis and Bacillus aneurinolyticus groups were determined. On the basis of the results of gene sequence analyses, these species were separated into two clusters. The B. brevis cluster included 10 species, namely, Bacillus brevis, Bacillus agri, Bacillus centrosporus, Bacillus choshinensis, Bacillus parabrevis, Bacillus reuszeri, Bacillus formosus, Bacillus borstelensis, Bacillus laterosporus, and Bacillus thermoruber. Bacillus aneurinolyticus and Bacillus migulanus belonged to the B. aneurinolyticus cluster. Moreover, the two clusters were phylogenetically distinct from other Bacillus, Amphibacillus, Sporolactobacillus, Paenibacillus, and Alicyclobacillus species. On the basis of our data, we propose reclassification of the B. brevis cluster as Brevibacillus gen. nov. and reclassification of the B. aneurinolyticus cluster as Aneurinibacillus gen. nov. By using 16S rRNA gene sequence alignments, two specific PCR amplification primers were designed for differentiating the two new genera from each other and from other aerobic, endospore-forming organisms.

Bacillus↗

PubMed2005

The accuracy of meningioma grading: a 10-year retrospective audit.

Although descriptive classifications of meningioma subtypes are well established, there has been inconsistency in the categorization of meningiomas into benign, atypical and anaplastic groups. The aim of this study was to reassess the incidence of atypical (grade II) meningiomas over a 10-year period by applying the World Health Organization (WHO) 2000 classification system. A secondary aim was to determine if grade II and III tumours were becoming more common. Sections of 314 meningiomas resected between 1994 and 2003 were retrieved from the archives of the Western General Hospital's neuropathology unit in Edinburgh. They were reassessed and graded by using the WHO 2000 classification system. The reviewers were blind to the original classification and grading. There was a gradual increase in the numbers of meningiomas being resected annually over the 10-year period. On reclassification, 78% of the meningiomas were classified as grade I, 20.4% as grade II and 1.6% as grade III. With regard to grade II meningiomas classified by using the WHO 2000 classification system, 38.1% had originally been classified as grade I prior to 2000, whereas 13.6% had originally been classified as grade I after 2000. In most cases, reclassification was due to formal counts of mitotic figures. Atypical meningiomas are diagnosed more frequently under the current WHO classification system than they were under the previous classification systems. Although the current WHO (2000) classification is more prescriptive than its predecessors, interobserver variability is likely to remain because of the subjective nature of some of the criteria.

Adolescent↗

PubMed1988

The abbreviated glucose tolerance test in screening for diabetes: the Islington Diabetes Survey.

The World Health Organization has recommended a single 2-h post-glucose load blood glucose level as a screening test for diabetes mellitus in epidemiological surveys. We have assessed its characteristics, when compared with a full supervised glucose tolerance test (OGTT), in estimating prevalence, and in diagnosing diabetes in the individual patient. A stratified sample of 223 of 1040 subjects who had participated in a diabetic survey that utilized a single capillary 2-h blood glucose estimation as a screening test were recalled for formal glucose tolerance testing. The numbers of subjects with diabetes at screening and at recall were similar (14/212, 6.6%; 13/216, 6.0%) but only 9 subjects were so classified on both occasions. Thirty-five subjects (16.5%) were suspected of having impaired glucose tolerance (IGT) at screening, and 52 (24.1%) at recall. There was substantial reclassification from screening IGT, with 3/35 worsening to diabetes, and 10/35 returning to normal. Capillary 2-h glucose levels gave an accurate assessment of the prevalence of diabetes but underestimated that of IGT. On the full OGTT, little difference in classification was found when the values of fasting and 1-h blood glucose were used in addition to those of the 2-h blood glucose used alone. The 2-h glucose had a within-subject coefficient of variation of 32.4% which produced substantial reclassification of subjects with levels close to the diagnostic levels for diabetes, and this implies that such individuals should not be classified as having diabetes on the basis of a single glucose tolerance test.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Glucose↗

PubMedDate not supplied

Resting and dobutamine stress echocardiographic factors associated with the development of occult dilated cardiomyopathy in healthy Doberman pinscher dogs.

In 29 healthy Doberman Pinschers, echocardiographic parameters evaluating systolic and diastolic function were examined prospectively at rest and during dobutamine constant rate infusion (5 micrograms/kg/minute) to determine if any parameters were associated with the development of occult dilated cardiomyopathy (DCM). A resting echocardiogram was repeated 1 year later to determine which dogs had met our criteria for occult DCM. Six dogs developed occult DCM during the follow-up period. Univariate logistic regression analysis showed that at rest, an increased left ventricular internal dimension in systole (LVID-S) (P = .02), preejection period (PEP) (P = .03), ratio of PEP to left ventricular ejection time (P = .02), and isovolumic relaxation time (P = .02) were significantly associated with the development of occult DCM. During dobutamine stress echocardiography (DSE), high LVID-S (P = .02) and systolic wall stress index (P = .04) and reduced fractional shortening (P = .02) and ratio of peak early to late diastolic mitral filling velocity (E/A) (P = .05) were associated with the development of occult DCM. Multiple logistic regression showed that LVID-S (P = .002) and E/A (P = .002) measured during dobutamine infusion also were associated with the development of occult DCM. Reclassification based on the DSE data was not significantly different than reclassification based on the resting echocardiographic data. Resting echocardiography and DSE have the potential to be clinically applicable screening tests for very early systolic and diastolic dysfunction in Doberman Pinschers, heralding the onset of occult DCM as it is currently defined.

Animals↗

PubMed1994

Phylogeny of Bacteroides, Prevotella, and Porphyromonas spp. and related bacteria.

The phylogenetic structure of the bacteroides subgroup of the cytophaga-flavobacter-bacteroides (CFB) phylum was examined by 16S rRNA sequence comparative analysis. Approximately 95% of the 16S rRNA sequence was determined for 36 representative strains of species of Prevotella, Bacteroides, and Porphyromonas and related species by a modified Sanger sequencing method. A phylogenetic tree was constructed from a corrected distance matrix by the neighbor-joining method, and the reliability of tree branching was established by bootstrap analysis. The bacteroides subgroup was divided primarily into three major phylogenetic clusters which contained most of the species examined. The first cluster, termed the prevotella cluster, was composed of 16 species of Prevotella, including P. melaninogenica, P. intermedia, P. nigrescens, and the ruminal species P. ruminicola. Two oral species, P. zoogleoformans and P. heparinolytica, which had been recently placed in the genus Prevotella, did not fall within the prevotella cluster. These two species and six species of Bacteroides, including the type species B. fragilis, formed the second cluster, termed the bacteroides cluster. The third cluster, termed the porphyromonas cluster, was divided into two subclusters. The first contained Porphyromonas gingivalis, P. endodontalis, P. asaccharolytica, P. circumdentaria, P. salivosa, [Bacteroides] levii (the brackets around genus are used to indicate that the species does not belong to the genus by the sensu stricto definition), and [Bacteroides] macacae, and the second subcluster contained [Bacteroides] forsythus and [Bacteroides] distasonis. [Bacteroides] splanchnicus fell just outside the three major clusters but still belonged within the bacteroides subgroup. With few exceptions, the 16 S rRNA data were in overall agreement with previously proposed reclassifications of species of Bacteroides, Prevotella, and Porphyromonas. Suggestions are made to accommodate those species which do not fit previous reclassification schemes.

Bacteroides↗

PubMed1978

Breast pattern classification and observer error.

Using the Wolfe breast pattern classification, a study was conducted to test the reproducibility of this classification in view of its likely significance for breast screening and rescreening programs. The results are highly encouraging, and there was good agreement. Reclassification from low risk occurred in 1% of the cases; reclassification from high risk to low risk occurred in 1.4%. There was a variance of 2.4% in the low-risk group and 0.6% in the high-risk group.

Adult↗

PubMed2004

Ileo-neorectal anastomosis: medium- and long-term follow-up of 37 patients.

BACKGROUND: Ileo-neorectal anastomosis (INRA), an alternative restorative procedure, was developed to reduce the pouch-related complication rate with an (at least) equal functional result. METHODS: For this surgical outcome, data of all INRA patients, including bowel function and complications, were prospectively recorded. The reservoir capacity was determined repeatedly by physiologic tests. The anal sphincter complex was assessed by manometry and ultrasound examination. Evaluation of the neorectal mucosa was performed by endoscopy. RESULTS: An INRA procedure was carried out in 39/53 selected patients (47 ulcerative colitis and 6 familial adenomatous polyposis). Fourteen UC cases were converted to ileal pouch anal anastomosis or proctectomy only, because of impossibility to completely remove the rectal mucosa or short of length of the rectal stump. The median operation time for INRA was 323 min (range 240-518), with 1,400 ml blood loss (400-4,500). The reservoirs were permanently defunctioned in 2 patients--one because of reclassification into Crohn's disease, and one with pouchitis refractory to medical treatment. In 18 out of 37 cases, web-like stenoses occurred at the mucosa-anal level, which were treated by single (9) or repeated (5) dilatation or surgical stenoplasty (2). No pouch-related complications like pelvic sepsis, fistula or sexual dysfunction occurred. Thirteen patients had episodes of 'pouchitis', successfully treated with antibiotics, and 7 other cases, with functioning reservoirs, also had proximal 'non-specific' (i.e. no histological criteria of Crohn's disease found) small bowel inflammation. The median bowel frequency decreased from 15x/24 h initially to 7x/24 h at 2 years. Continence was perfect in 24/37 cases. Twelve out of 37 cases had occasional nocturnal soiling and passive nocturnal fecal incontinence was reported by 2/37 patients. The neorectal compliance volume recovered from 12.5 ml kPa after subtotal colectomy and 11 ml/kPa at 6 months after INRA to a neorectal compliance of 24 ml/kPa at 2 years' follow-up (p < 0.002; Wilcoxon signed rank test). CONCLUSION: The INRA procedure shows a low complication rate and reasonable functional results, there was however a considerable conversion rate in these first 53 cases and a high incidence of reclassification to CD.

Clinical Competence↗

PubMed1982

Factors determining the use of the emergency recommendation for compulsory psychiatric care.

The factors determining the use of Section 31 admissions and reclassifications at a district psychiatric hospital were investigated prospectively over an eight month period. Thirty-six per cent of patients failed to meet the criteria laid down for full detention and, particularly with reclassification, Section 31 was invoked to secure treatment. While the Emergency Recommendation is not used as the legislators intended, a seven day detention order appears more relevant to modern psychiatric practice than the full detention procedure.

Commitment of Persons with Psychiatric Disorders↗

PubMed2026

Advances in the diagnosis and classification of B-ALL: comparative insights from updated guidelines.

Accurate molecular classification is essential for diagnosis, risk stratification, and treatment selection in B-cell lymphoblastic leukemia (B-ALL). In this study, we performed a comprehensive, real-world reclassification of 1015 consecutively diagnosed B-ALL patients using the fifth edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO-HAEM5) and the International Consensus Classification (ICC). An integrative genomic strategy that combined whole transcriptome sequencing, fusion detection, mutational analysis, and cytogenetics enabled reclassification according to both the WHO-HAEM5 and ICC frameworks, thereby substantially reducing the proportion of unclassifiable B-ALL from 41.9% (2016 WHO revision [WHO-HAEM4R]) to 15.9% (WHO-HAEM5) and 11.9% (ICC). Distinct clinical and prognostic features were identified across newly defined subtypes. Multivariable analysis confirmed that this genomic classification is a robust, independent predictor of survival after adjusting for age, minimal residual disease status, and transplant intervention. Specifically, HLF-rearranged and MEF2D-rearranged B-ALL conferred a persistently poor prognosis across all age groups despite allogeneic hematopoietic stem cell transplantation, highlighting an urgent need for novel therapeutic strategies. Gene expression profiling resolved cryptic subtypes, including ETV6::RUNX1-like, ZNF384-rearranged-like, and BCR::ABL1-like B-ALL, and uncovered diagnostic ambiguity in patients with concurrent lesions. In addition, we report emerging high-risk groups, including IDH1/2- and ZEB2 Q1072-mutated B-ALL, that may warrant recognition as distinct molecular entities. Our findings demonstrate the clinical use of integrative transcriptomic profiling in refining B-ALL taxonomy in guiding risk-adapted therapies and informing future revisions of diagnostic standards. This study supports the incorporation of high-throughput molecular diagnostics into routine leukemia classification and precision treatment planning.

Humans↗