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A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Causes, Screening and Diagnosis".

Deadline for manuscript submissions: 15 December 2024 | Viewed by 21181

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Dr. Leonor Arenillas

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Laboratori de Citologia Hematològica, Servei de Patologia, Grup de Recerca Translacional en Neoplàsies Hematològiques (GRETNHE), Hospital del Mar Research Institute (IMIM), 08003 Barcelona, Spain
Interests: hematologic malignancies diagnosis; cytomorphology; flow cytometry; myeloid neoplasms; myelodysplastic syndromes; acute myeloid leukemia

Dr. Xavier Calvo

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Special Issue Information

Dear Colleagues,

In recent years, we have experienced a change in the paradigm of the diagnosis of hematological malignancies, moving from phenotyping to genotyping, and giving increasing importance to multidisciplinary diagnoses. An accurate diagnosis is necessary for a correct prognostic stratification and an adequate therapeutic selection. Although morphology continues to represent the indispensable starting point in the diagnostics of hematological neoplasms, new classifications tend to define nosological entities based on the underlying genetic mechanisms of disease. The World Health Organization’s (WHO) classification of tumors of hematopoietic and lymphoid tissues has provided a global reference for the diagnosis of hematological neoplasms since its third edition in 2001. This classification is based on integrating morphologic (cytology and histology), immunophenotypic, molecular, and cytogenetic data. Recently, in addition to the 2022 edition of the WHO classification, the International Consensus Classification (ICC) system for hematological neoplasms has been published. While many definitions proposed by the ICC and WHO 2022 are concordant, some differ in a number of key aspects and could impact the design of clinical trials, drug development, and regulatory approval, in addition to, as a consequence, patient care. This Special Issue, entitled “Diagnosis of Hematologic Malignancies”, aims to highlight novel diagnostic and prognostic tools that could improve the management and treatment of hematological neoplasms.

Dr. Leonor Arenillas
Dr. Xavier Calvo
Guest Editors

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Keywords

diagnosis of hematologic malignancies
myeloid neoplasms
lymphoid neoplasms
cytomorphology
flow cytometry
cytogenetic
molecular biology

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Published Papers (9 papers)

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Research

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12 pages, 4781 KiB

Open AccessArticle

Preliminary Experience in Ultra-High Frequency Ultrasound Assessment of Cutaneous Primary Lymphomas: An Innovative Classification

by Anna Russo, Vittorio Patanè, Federico Gagliardi, Fabrizio Urraro, Andrea Ronchi, Paola Vitiello, Antonello Sica, Giuseppe Argenziano, Valerio Nardone and Alfonso Reginelli

Cancers 2024, 16(13), 2456; https://doi.org/10.3390/cancers16132456 - 4 Jul 2024

Cited by 2 | Viewed by 1001

Abstract

Background: Primary cutaneous lymphoma (PCL) is a rare form of extranodal non-Hodgkin’s lymphoma characterized by malignant lymphocytes confined to the skin. Accurate diagnosis and staging are crucial for optimal management, yet radiological literature on imaging PCL remains limited. This study aims to delineate the imaging characteristics of PCLs using high and ultra-high frequency ultrasound (UHFUS) and proposes a classification system based on ultrasound findings. Methods: A cohort of 88 individuals with suspected PCL underwent high-resolution ultrasound (HRUS) and color Doppler examination of lesions. Lesions were categorized based on sonographic appearance, and subsequent histopathological assessment confirmed the diagnosis. Results: Ultrasound imaging revealed distinct patterns for primary cutaneous T-cell lymphomas (PCTCL) and primary cutaneous B-cell lymphomas (PCBCL), with characteristic features such as hypoechoic nodules, pseudonodular lesions, and dermal infiltration. Histopathological analysis confirmed the ultrasound findings, supporting the proposed classification system. Conclusions: Ultrasonography, particularly UHFUS, offers valuable insights into the imaging characteristics of primary cutaneous lymphomas, aiding the accurate diagnosis and assessment of treatment response. The proposed classification system based on ultrasound findings enhances the diagnostic approach to PCLs, and paves the way for improved patient care and management strategies. Full article

(This article belongs to the Special Issue Diagnosis of Hematologic Malignancies)

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15 pages, 1280 KiB

Open AccessArticle

Complex Karyotype Detection in Chronic Lymphocytic Leukemia: A Comparison of Parallel Cytogenetic Cultures Using TPA and IL2+DSP30 from a Single Center

by Joanna Kamaso, Anna Puiggros, Marta Salido, Carme Melero, María Rodríguez-Rivera, Eva Gimeno, Laia Martínez, Leonor Arenillas, Xavier Calvo, David Román, Eugènia Abella, Silvia Ramos-Campoy, Marta Lorenzo, Ana Ferrer, Rosa Collado, Marco Antonio Moro-García and Blanca Espinet

Cancers 2024, 16(12), 2258; https://doi.org/10.3390/cancers16122258 - 18 Jun 2024

Viewed by 873

Abstract

Current CLL guidelines recommend a two parallel cultures assessment using TPA and IL2+DSP30 mitogens for complex karyotype (CK) detection. Studies comparing both mitogens for CK identification in the same cohort are lacking. We analyzed the global performance, CK detection, and concordance in the complexity assessment of two cytogenetic cultures from 255 CLL patients. IL2+DSP30 identified more altered karyotypes than TPA (50 vs. 39%, p = 0.031). Moreover, in 71% of those abnormal by both, IL2+DSP30 identified more abnormalities and/or abnormal metaphases. CK detection was similar for TPA and IL2+DSP30 (10% vs. 11%). However, 11/33 CKs (33%) were discordant, mainly due to the detection of a normal karyotype or no metaphases in the other culture. Patients requiring treatment within 12 months after sampling (active CLL) displayed significantly more CKs than those showing a stable disease (55% vs. 12%, p < 0.001). Disease status did not impact cultures’ concordance (κ index: 0.735 and 0.754 for stable and active). Although CK was associated with shorter time to first treatment (TTFT) using both methods, IL2+DSP30 displayed better accuracy than TPA for predicting TTFT (C-index: 0.605 vs. 0.580, respectively). In summary, the analysis of two parallel cultures is the best option to detect CKs in CLL. Nonetheless, IL2+DSP30 could be prioritized above TPA to optimize cytogenetic assessment in clinical practice. Full article

(This article belongs to the Special Issue Diagnosis of Hematologic Malignancies)

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18 pages, 1337 KiB

Open AccessArticle

The Use of Low-Dose Chest Computed Tomography for the Diagnosis and Monitoring of Pulmonary Infections in Patients with Hematologic Malignancies

by Efthimios Agadakos, Alexandra Zormpala, Nikolaos Zaios, Chrysoula Kapsiocha, Maria N. Gamaletsou, Michael Voulgarelis, Nikolaos V. Sipsas, Lia Angela Moulopoulos and Vassilis Koutoulidis

Cancers 2024, 16(1), 186; https://doi.org/10.3390/cancers16010186 - 29 Dec 2023

Viewed by 2684

Abstract

The study aimed to assess the image quality and diagnostic performance of low-dose Chest Computed Tomography (LDCCT) in detecting pulmonary infections in patients with hematologic malignancies. A total of 164 neutropenic patients underwent 256 consecutive CT examinations, comparing 149 LDCCT and 107 Standard-Dose Chest CT (SDCCT) between May 2015 and June 2019. LDCCT demonstrated a 47% reduction in radiation dose while maintaining acceptable image noise and quality compared to SDCCT. However, LDCCT exhibited lower sensitivity in detecting consolidation (27.5%) and ground glass opacity (64.4%) compared to SDCCT (45.8% and 82.2%, respectively) with all the respective p-values from unadjusted and adjusted for sex, age, and BMI analyses being lower than 0.006 and the corresponding Odds Ratios of detection ranging from 0.30 to 0.34. Similar trends were observed for nodules ≥3 mm and ground glass halo in nodules but were not affected by sex, age and BMI. No significant differences were found for cavitation in nodules, diffuse interlobular septal thickening, pleural effusion, pericardial effusion, and lymphadenopathy. In conclusion, LDCCT achieved substantial dose reduction with satisfactory image quality but showed limitations in detecting specific radiologic findings associated with pulmonary infections in neutropenic patients compared to SDCCT. Full article

(This article belongs to the Special Issue Diagnosis of Hematologic Malignancies)

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15 pages, 2476 KiB

Open AccessArticle

Leukemic Involvement Is a Common Feature in Waldenström Macroglobulinemia at Diagnosis

by Sara Montesdeoca, Nieves García-Gisbert, Xavier Calvo, Leonor Arenillas, David Román, Concepción Fernández-Rodríguez, Rosa Navarro, Beatriz Costan, María del Carmen Vela, Laura Camacho, Eugènia Abella, Lluís Colomo, Marta Salido, Anna Puiggros, Lourdes Florensa, Blanca Espinet, Beatriz Bellosillo and Ana Ferrer del Álamo

Cancers 2023, 15(16), 4152; https://doi.org/10.3390/cancers15164152 - 17 Aug 2023

Viewed by 1180

Abstract

Waldenström Macroglobulinemia (WM) is a lymphoplasmacytic lymphoma with bone marrow (BM) involvement and IgM monoclonal gammopathy. To date, no studies have focused specifically on peripheral blood (PB) involvement. In this study, 100 patients diagnosed with WM according to the World Health Organization (WHO) criteria were included based on the demonstration of MYD88mut in BM and the availability of PB multiparametric flow cytometry (MFC) analysis. Leukemic involvement by MFC was detected in 50/100 patients. A low percentage of mature small lymphocytes in PB smears was observed in only 15 cases. MYD88mut by AS-qPCR was detected in PB in 65/100 cases. In cases with leukemic expression by MFC, MYD88mut was detected in all cases, and IGH was rearranged in 44/49 cases. In 21/50 patients without PB involvement by MFC, molecular data were consistent with circulating disease (MYD88mut by AS-qPCR 3/50, IGH rearranged 6/50, both 12/50). Therefore, PB involvement by standard techniques was detected in 71/100 patients. MYD88mut was detected in PB by dPCR in 9/29 triple negative cases. Overall, 80% of the patients presented PB involvement by any technique. Our findings support the role of PB MFC in the evaluation of patients with IgM monoclonal gammopathy and provide reliable information on correlation with molecular features. The development of a feasible MFC assay may stand as an objective tool in the classification of mature B cell neoplasms presenting with IgM monoclonal gammopathy. Full article

(This article belongs to the Special Issue Diagnosis of Hematologic Malignancies)

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13 pages, 1671 KiB

Open AccessArticle

Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing

by Marta Garrote, Mónica López-Guerra, Eduardo Arellano-Rodrigo, María Rozman, Sara Carbonell, Francesca Guijarro, Marta Santaliestra, Ana Triguero, Dolors Colomer, Francisco Cervantes and Alberto Álvarez-Larrán

Cancers 2023, 15(15), 3904; https://doi.org/10.3390/cancers15153904 - 31 Jul 2023

Cited by 1 | Viewed by 1795

Abstract

Myelofibrosis (MF) is a heterogeneous disease regarding its mutational landscape, clinical presentation, and outcomes. The aim of our work is to evaluate the genomic classification of MF considering whether it is primary or secondary. One-hundred seventy-five patients, 81 with primary MF (PMF) and 94 with secondary MF (SMF) were hierarchically allocated into eight molecular groups. We found that TP53 disruption/aneuploidy (n = 16, 9%) was more frequent (12% versus 6%) and showed higher allele burden (57% versus 15%, p = 0.01) in SMF than in PMF, and was associated with shorter survival (median 3.5 years). Mutations in chromatin/spliceosome genes (n = 72, 41%) represented the most frequent genomic group in PMF. Homozygous JAK2 mutation (n = 40, 23%) was enriched with old patients with SMF after long-standing polycythemia vera, whereas MF with heterozygous JAK2 mutation (n = 22, 13%) was similarly distributed among PMF and SMF. MF with CALR mutation (n = 19, 11%) predominated in post-essential thrombocythemia MF. The remaining genomic groups were infrequent. TP53 disruption, chromatin/spliceosome mutation, and homozygous JAK2 mutation were associated with significantly shorter survival and higher risk of progression. In conclusion, genomic classification reveals different pathogenic pathways between PMF and SMF and provides relevant information regarding disease phenotype and outcomes. Full article

(This article belongs to the Special Issue Diagnosis of Hematologic Malignancies)

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16 pages, 1062 KiB

Open AccessEditor’s ChoiceArticle

Cytogenetic Assessment and Risk Stratification in Myelofibrosis with Optical Genome Mapping

by Álvaro Díaz-González, Elvira Mora, Gayane Avetisyan, Santiago Furió, Rosalía De la Puerta, José Vicente Gil, Alessandro Liquori, Eva Villamón, Carmen García-Hernández, Marta Santiago, Cristian García-Ruiz, Marta Llop, Blanca Ferrer-Lores, Eva Barragán, Silvia García-Palomares, Empar Mayordomo, Irene Luna, Ana Vicente, Lourdes Cordón, Leonor Senent, Alberto Álvarez-Larrán, José Cervera, Javier De la Rubia, Juan Carlos Hernández-Boluda and Esperanza Such Show full author list Hide full author list

Cancers 2023, 15(11), 3039; https://doi.org/10.3390/cancers15113039 - 2 Jun 2023

Viewed by 2651

Abstract

Cytogenetic assessment in myelofibrosis is essential for risk stratification and patient management. However, an informative karyotype is unavailable in a significant proportion of patients. Optical genome mapping (OGM) is a promising technique that allows for a high-resolution assessment of chromosomal aberrations (structural variants, copy number variants, and loss of heterozygosity) in a single workflow. In this study, peripheral blood samples from a series of 21 myelofibrosis patients were analyzed via OGM. We assessed the clinical impact of the application of OGM for disease risk stratification using the DIPSS-plus, GIPSS, and MIPSS70+v2 prognostic scores compared with the standard-of-care approach. OGM, in combination with NGS, allowed for risk classification in all cases, compared to only 52% when conventional techniques were used. Cases with unsuccessful karyotypes (n = 10) using conventional techniques were fully characterized using OGM. In total, 19 additional cryptic aberrations were identified in 9 out of 21 patients (43%). No alterations were found via OGM in 4/21 patients with previously normal karyotypes. OGM upgraded the risk category for three patients with available karyotypes. This is the first study using OGM in myelofibrosis. Our data support that OGM is a valuable tool that can greatly contribute to improve disease risk stratification in myelofibrosis patients. Full article

(This article belongs to the Special Issue Diagnosis of Hematologic Malignancies)

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Review

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14 pages, 3287 KiB

Open AccessReview

Infrequent Presentations of Chronic NPM1-Mutated Myeloid Neoplasms: Clinicopathological Features of Eight Cases from a Single Institution and Review of the Literature

by Sandra Castaño-Díez, Francesca Guijarro, Mònica López-Guerra, Amanda Isabel Pérez-Valencia, Marta Gómez-Núñez, Dolors Colomer, Marina Díaz-Beyá, Jordi Esteve and María Rozman

Cancers 2024, 16(4), 705; https://doi.org/10.3390/cancers16040705 - 7 Feb 2024

Viewed by 1581

Abstract

Non-acute myeloid neoplasms (MNs) with NPM1 mutations (NPM1mut-MNs) pose a diagnostic and therapeutic dilemma, primarily manifesting as chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS). The classification and treatment approach for these conditions as acute myeloid leukemia (AML) are debated. We describe eight cases of atypical NPM1mut-MNs from our institution and review the literature. We include a rare case of concurrent prostate carcinoma and MN consistent with chronic eosinophilic leukemia, progressing to myeloid sarcoma of the skin. Of the remaining seven cases, five were CMML and two were MDS. NPM1 mutations occur in 3–5% of CMML and 1–6% of MDS, with an increased likelihood of rapid evolution to AML. Their influence on disease progression varies, and their prognostic significance in non-acute MNs is less established than in AML. Non-acute MNs with NPM1 mutations may display an aggressive clinical course, emphasizing the need for a comprehensive diagnosis integrating clinical and biological data. Tailoring patient management on an individualized basis, favoring intensive treatment aligned with AML protocols, is crucial, regardless of blast percentage. Research on the impact of NPM1 mutations in non-acute myeloid neoplasms is ongoing, requiring challenging prospective studies with substantial patient cohorts and extended follow-up periods for validation. Full article

(This article belongs to the Special Issue Diagnosis of Hematologic Malignancies)

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30 pages, 5476 KiB

Open AccessReview

Hematological Neoplasms with Eosinophilia

by Rosario M. Morales-Camacho, Teresa Caballero-Velázquez, Juan José Borrero, Ricardo Bernal and Concepción Prats-Martín

Cancers 2024, 16(2), 337; https://doi.org/10.3390/cancers16020337 - 12 Jan 2024

Viewed by 3572

Abstract

Eosinophils in peripheral blood account for 0.3–5% of leukocytes, which is equivalent to 0.05–0.5 × 10⁹/L. A count above 0.5 × 10⁹/L is considered to indicate eosinophilia, while a count equal to or above 1.5 × 10⁹/L is defined as hypereosinophilia. In bone marrow aspirate, eosinophilia is considered when eosinophils make up more than 6% of the total nuclear cells. In daily clinical practice, the most common causes of reactive eosinophilia are non-hematologic, whether they are non-neoplastic (allergic diseases, drugs, infections, or immunological diseases) or neoplastic (solid tumors). Eosinophilia that is associated with a hematological malignancy may be reactive or secondary to the production of eosinophilopoietic cytokines, and this is mainly seen in lymphoid neoplasms (Hodgkin lymphoma, mature T-cell neoplasms, lymphocytic variant of hypereosinophilic syndrome, and B-acute lymphoblastic leukemia/lymphoma). Eosinophilia that is associated with a hematological malignancy may also be neoplastic or primary, derived from the malignant clone, usually in myeloid neoplasms or with its origin in stem cells (myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions, acute myeloid leukemia with core binding factor translocations, mastocytosis, myeloproliferative neoplasms, myelodysplastic/myeloproliferative neoplasms, and myelodysplastic neoplasms). There are no concrete data in standardized cytological and cytometric procedures that could predict whether eosinophilia is reactive or clonal. The verification is usually indirect, based on the categorization of the accompanying hematologic malignancy. This review focuses on the broad differential diagnosis of hematological malignancies with eosinophilia. Full article

(This article belongs to the Special Issue Diagnosis of Hematologic Malignancies)

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27 pages, 1978 KiB

Open AccessReview

Current and Emerging Techniques for Diagnosis and MRD Detection in AML: A Comprehensive Narrative Review

by Alexandra Teixeira, Luís Carreira, Sara Abalde-Cela, Belém Sampaio-Marques, Anabela C. Areias, Paula Ludovico and Lorena Diéguez

Cancers 2023, 15(5), 1362; https://doi.org/10.3390/cancers15051362 - 21 Feb 2023

Cited by 4 | Viewed by 4369

Abstract

Acute myeloid leukemia (AML) comprises a group of hematologic neoplasms characterized by abnormal differentiation and proliferation of myeloid progenitor cells. AML is associated with poor outcome due to the lack of efficient therapies and early diagnostic tools. The current gold standard diagnostic tools are based on bone marrow biopsy. These biopsies, apart from being very invasive, painful, and costly, have low sensitivity. Despite the progress uncovering the molecular pathogenesis of AML, the development of novel detection strategies is still poorly explored. This is particularly important for patients that check the criteria for complete remission after treatment, since they can relapse through the persistence of some leukemic stem cells. This condition, recently named as measurable residual disease (MRD), has severe consequences for disease progression. Hence, an early and accurate diagnosis of MRD would allow an appropriate therapy to be tailored, improving a patient’s prognosis. Many novel techniques with high potential in disease prevention and early detection are being explored. Among them, microfluidics has flourished in recent years due to its ability at processing complex samples as well as its demonstrated capacity to isolate rare cells from biological fluids. In parallel, surface-enhanced Raman scattering (SERS) spectroscopy has shown outstanding sensitivity and capability for multiplex quantitative detection of disease biomarkers. Together, these technologies can allow early and cost-effective disease detection as well as contribute to monitoring the efficiency of treatments. In this review, we aim to provide a comprehensive overview of AML disease, the conventional techniques currently used for its diagnosis, classification (recently updated in September 2022), and treatment selection, and we also aim to present how novel technologies can be applied to improve the detection and monitoring of MRD. Full article

(This article belongs to the Special Issue Diagnosis of Hematologic Malignancies)

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