INTRODUCTION: Angioimmunoblastic T-cell lymphoma (AITL) is a mature T-cell proliferative tumor characterized by an aggressive clinical course and low incidence. The risk factors for the presence of disseminated tumor cel...INTRODUCTION: Angioimmunoblastic T-cell lymphoma (AITL) is a mature T-cell proliferative tumor characterized by an aggressive clinical course and low incidence. The risk factors for the presence of disseminated tumor cells (DTCs) in the bone marrow (BM) of patients and their impact on prognosis remain incompletely understood. In this study, we used multiparametric flow cytometry (MFC) to detect DTCs in the BM of AITL patients. We aimed to assess risk factors for the presence of DTCs, investigate correlations between the immunophenotype of DTCs and clinical indicators or efficacy, and identify prognostic factors. Our findings provide insights that may aid in the early diagnosis, disease monitoring, and efficacy evaluation of AITL. METHODS: Based on the presence or absence of DTCs in the BM, 90 patients with an initial diagnosis of AITL were classified into DTCs and DTCs groups. The differences between the two groups were then compared. Clinical and survival data were collected from AITL patients to analyze the correlations between immunophenotypes and clinical characteristics or prognosis. Univariate logistic regression was employed to analyze the factors influencing efficacy. RESULTS: MFC detected neoplastic T cells of AITL in 65.56% (59/90) of BM samples. Compared to the DTCs patients, DTCs patients had a higher frequency of fever, splenomegaly, extranodal involvement ≥ 2 sites, and elevated lactate dehydrogenase (LDH). The 2-year progression-free survival (PFS) rates were 31.3% and 52.5%, and the 2-year overall survival (OS) rates were 65.6% and 65.3% in the DTCs and DTCs groups, respectively. Multivariate survival analysis demonstrated that pleural effusion was a risk factor affecting PFS and OS. Furthermore, loss of CD7 expression on DTCs was associated with shorter OS. AITL patients with CD7 loss were more likely to present with rash, elevated immunoglobulins, and CXCL13 loss by histopathological immunohistochemistry. Finally, CD3 expression, elevated LDH, and decreased hemoglobin (HGB) were collectively identified as high-risk factors for disease progression. CONCLUSION: The presence of DTCs in the BM is associated with the prognosis of AITL. Pleural effusion constitutes an independent adverse prognostic factor. Loss of CD7 correlates with shorter OS, and a profile combining CD3 expression, elevated LDH, and decreased HGB serves as a useful predictor of disease progression.
Over the past few decades, healthcare has made remarkable advances. Across nearly all fields, diseases are better understood, and diagnostic and therapeutic options have expanded dramatically. Laboratory medicine is also...Over the past few decades, healthcare has made remarkable advances. Across nearly all fields, diseases are better understood, and diagnostic and therapeutic options have expanded dramatically. Laboratory medicine is also developing at a rapid pace and is playing an increasingly central role in the diagnostic process, as well as in the monitoring of therapy and disease progression. For many conditions-including cardiovascular disease and cancer-patient outcomes have improved spectacularly. However, this success has also created new challenges. Death from acute illness has increasingly been replaced by survival with chronic disease. An aging-though not necessarily healthy-population demands substantial personal, financial, and organizational support. Hyperspecialization is poorly suited to meeting these complex needs. Moreover, efficiency-driven centralization of care, encompassing both clinical services and laboratories, may be necessary but often introduces new problems that can only be addressed through innovation and technology. Most importantly, strong professional leadership is essential. With healthcare professionals in the lead, we can ensure a resilient and sustainable healthcare system, supported by high-quality laboratory services, in which complex issues such as superspecialization, centralization, and efficiency are addressed in an optimal and integrated manner.
Cantu-Rodriguez OG, Dorsey-Trevino EG, Contreras-Arce A
… +7 more, Hawing-Zarate JA, Gonzalez-Cantu SP, Gonzalez-Cantu SL, Gutierrez-Aguirre CH, Colunga-Pedraza P, Gomez-De Leon A, Gomez-Almaguer D
Int J Lab Hematol
· 2026 Mar · PMID 41888063
·
Publisher ↗
BACKGROUND: Previous evidence suggests that the diagnostic role of bone marrow aspiration (BMA) is altered by the hematological malignancy itself, thereby reducing its diagnostic accuracy and potentially delaying patient...BACKGROUND: Previous evidence suggests that the diagnostic role of bone marrow aspiration (BMA) is altered by the hematological malignancy itself, thereby reducing its diagnostic accuracy and potentially delaying patient care. This association, however, remains largely unevaluated. METHODS: We used a multivariable logistic regression model to estimate the association between hematological malignancies and the quality of the BMA, defined as optimal or suboptimal. Our primary outcome evaluated the association between hematological condition type and the quality of the bone marrow aspirate. Our secondary outcomes were to determine laboratory and patient-specific risk factors associated with the quality of the bone marrow aspirate. RESULTS: We analyzed a total of 875 patients who had either acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), multiple myeloma (MM), or non-Hodgkin lymphoma (NHL). We found that patients with AML and MDS were associated with a suboptimal BMA (OR 0.72; 95% CI 0.56-0.91 and OR 0.63; 95% CI 0.50-0.79, respectively). We also found that in patients with AML and MDS, age was associated with a suboptimal BMA (OR 0.63; 95% CI 0.49-0.81 and OR 0.72; 95% CI 0.53-0.97), whereas high levels of hemoglobin (OR 2.56; 95% CI 2.07-2.98 and OR 1.16; 95% CI 1.02-1.35), and platelets (OR 1.27; 95% CI 1.07-1.44 and OR 1.34; 95% CI 1.11-1.49) were associated with an optimal BMA. CONCLUSIONS: We found that in AML and MDS, factors such as advanced age, low levels of hemoglobin, platelets, and white blood cells are associated with the quality of the BMA, thereby impacting its diagnostic accuracy.
Marti JLG, Seth N, Bendari A
… +4 more, Tam W, Spitzer S, Rosca OC, Vele O
Int J Lab Hematol
· 2026 Mar · PMID 41860426
·
Publisher ↗
OBJECTIVES: Identification of CALR indels is key in the diagnosis of myeloproliferative neoplasms (MPNs) that are JAK2 or MPL wild-type. Most patients harbor either type 1 (52-bp deletion) or type 2 (5-bp insertion) exon...OBJECTIVES: Identification of CALR indels is key in the diagnosis of myeloproliferative neoplasms (MPNs) that are JAK2 or MPL wild-type. Most patients harbor either type 1 (52-bp deletion) or type 2 (5-bp insertion) exon 9 indels, both of which produce a +1 frameshift and loss of the KDEL ER-retention motif. Additional indels have been characterized. However, many still present diagnostic challenges in interpretation, especially when relying on fragment size alone. Our goal was to assess the concordance of detection of rare CALR indels using two available molecular diagnostic assays in the diagnosis of MPN. METHODS: We reviewed 6 years of CALR exon 9 testing at our institution, focusing on patients with non-type 1/type 2 indels (non-standard). Fragment sizing was performed by PCR with capillary electrophoresis (PCR-CE), with a subset reflexed to next-generation sequencing (NGS) for clarification. We assessed reading frame shifts, KDEL motif status, variant allele frequencies (VAFs), and co-occurring mutations where available. RESULTS: Over a 6-year period, a total of 3474 CALR tests were performed, with indels being detected in 125 patients. Forty patients with exon 9 CALR indels other than 52 bp-del and 5 bp-ins were identified (40/125; 32%). Among these, the most frequently detected indel was the 9-bp deletion (19/125; 15.2%). Parallel NGS reports were available in 11 patients. From these, five showed a discrepant indel size (5/11 = 45%) between PCR-CE and NGS by ±1 or -2-bp. These discrepancies resulted in novel frameshifts that were originally categorized as in-frame indels by PCR-CE. CONCLUSIONS: PCR-CE should be used as a screening method, and indels other than 52-bp del or 5-bp ins should prompt reflex NGS testing to determine frame and clonal status. These findings establish an opportunity to standardize molecular testing for CALR testing in patients with suspected MPN.
Traets MJM, Idrizovic A, Eijkelenboom-Bos J
… +19 more, Veldthuis M, van der Hoorn M, van Dijk MJ, Balvert R, D'Agnolo M, Marin M, Bourdelier E, Adu E, Hebert N, Bartolucci P, Boaro MP, de Montalembert M, Colombatti R, Sheehan VA, van Beers EJ, van Wijk R, Mañú-Pereira MDM, van Zwieten R, Rab MAE
Int J Lab Hematol
· 2026 Mar · PMID 41860401
·
Publisher ↗
Scala P, Della Corte AM, Bertolini A
… +12 more, Gorrese M, Picone F, Serio B, De Novellis D, Mettivier L, Pezzullo L, Martorelli MC, Morini D, D'Addona M, Cuffa B, Selleri C, Giudice V
Int J Lab Hematol
· 2026 Mar · PMID 41821147
·
Publisher ↗
INTRODUCTION: Neutrophil-extracellular traps are net-like material released by triggered neutrophils and composed of decondensed chromatin linked to nuclear proteins. Elastase, one of the fourth most represented neutroph...INTRODUCTION: Neutrophil-extracellular traps are net-like material released by triggered neutrophils and composed of decondensed chromatin linked to nuclear proteins. Elastase, one of the fourth most represented neutrophil-specific serine proteases stored in azurophil granules of naïve neutrophils, exerts various actions, including degradation of extracellular matrix and has proinflammatory functions. METHODS: Plasma was obtained from 111 patients with various hematological malignancies and 42 healthy donors, and plasma elastase levels were measured by ELISA. RESULTS: Reduced circulating levels of neutrophil elastase were found in patients with myelodysplastic syndromes (MDS) and chronic lymphocytic leukemia, while they were increased in acute myeloid leukemia (AML) and non-Hodgkin lymphomas (NHL), with statistically significant AUCs (AML, AUC = 0.7821 and p = 0.0182; and NHL, AUC = 0.7521 and p = 0.0008). Moreover, multiple patients with standard-risk genetic features tended to have higher plasma elastase levels compared to healthy controls. Patients were then divided into two groups, using a cut-off of 300 ng/mL of plasma elastase, and clinical outcomes were compared, showing reduced overall survival and progression-free survival in those subjects with increased plasma elastase levels, as well as shorter time-to-treatment. CONCLUSION: Our findings indicate that circulating plasma elastase could be useful to distinguish across diseases in the differential diagnosis of hematological malignancies, and could be used as additional prognostic biomarker of disease progression and responsiveness to therapies.