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- Campo, E, et al.
(author)
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The International Consensus Classification of Mature Lymphoid Neoplasms: a report from the Clinical Advisory Committee
- 2022
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In: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 140:11, s. 1229-1253
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Journal article (peer-reviewed)abstract
- Since the publication of the Revised European-American Classification of Lymphoid Neoplasms in 1994, subsequent updates of the classification of lymphoid neoplasms have been generated through iterative international efforts to achieve broad consensus among hematopathologists, geneticists, molecular scientists, and clinicians. Significant progress has recently been made in the characterization of malignancies of the immune system, with many new insights provided by genomic studies. They have led to this proposal. We have followed the same process that was successfully used for the third and fourth editions of the World Health Organization Classification of Hematologic Neoplasms. The definition, recommended studies, and criteria for the diagnosis of many entities have been extensively refined. Some categories considered provisional have now been upgraded to definite entities. Terminology for some diseases has been revised to adapt nomenclature to the current knowledge of their biology, but these modifications have been restricted to well-justified situations. Major findings from recent genomic studies have impacted the conceptual framework and diagnostic criteria for many disease entities. These changes will have an impact on optimal clinical management. The conclusions of this work are summarized in this report as the proposed International Consensus Classification of mature lymphoid, histiocytic, and dendritic cell tumors.
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| 6. |
- Hebeda, KM, et al.
(author)
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Challenges in Diagnosing Myelodysplastic Syndromes in the Era of Genetic Testing: Proceedings of the 13th Workshop of the European Bone Marrow Working Group
- 2019
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In: Pathobiology : journal of immunopathology, molecular and cellular biology. - : S. Karger AG. - 1423-0291. ; 86:1, s. 62-75
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Journal article (peer-reviewed)abstract
- The 13th workshop of the European Bone Marrow Working Group in Utrecht, The Netherlands, was devoted to studying myelodysplastic syndromes (MDS) and their boundaries. The panel received 44 cases submitted to the 3 invited categories, which included: reactive cytopenias with dysplasia, idiopathic cytopenia of undetermined significance, clonal haematopoiesis of indeterminate potential, idiopathic dysplasia of uncertain significance and overt MDS. For this summary, we have selected 17 cases that highlight difficulties in separating true MDS from other causes of cytopenia and the intricate relationship between clonal haematopoiesis and true MDS. In addition, cases of overt MDS with challenging features were also selected. All cases were stained for p53 expression. Using instructive submitted cases we discuss the following: (1) cytopenia with clonal haematopoiesis not fulfilling MDS criteria, (2) cytopenia and/or dysplasia with germline mutations and/or familial history suggesting an underlying gene defect, (3) MDS based on a recurrent chromosomal abnormality and (4) overt MDS with diagnostic difficulties due to concurrent treatment or disease. The lively discussion in the open forum of the workshop illustrated the need for better integrative understanding of the evolution of acquired genetic abnormalities in haematopoiesis, and the challenge of diagnosing true MDS in cytopenic patients with genetic abnormalities, either germline or acquired.
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- Zhou, Hong, et al.
(author)
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Molecular phylogeny of Nearctic species of Rhynchelmis (Annelida)
- 2010
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In: Zoologica Scripta. - : Wiley. - 0300-3256 .- 1463-6409. ; 39, s. 378-393
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Journal article (peer-reviewed)abstract
- The Nearctic species of Rhynchelmis (Clitellata, Lumbriculidae) are known primarily from cool-water habitats in western North America. Their taxonomy has so far been based on limited collections from isolated localities, using intuitive assessment of morphological characters. This approach has proved unsatisfactory when additional populations of closely related species were sampled and scrutinized for incorporation in the present classification. Therefore, in this study, mitochondrial (cytochrome c oxidase subunit I and 16S rDNA) and nuclear internal transcriber spacer (ITS rDNA) genes were analysed as phylogenetic markers of Nearctic Rhynchelmis species. A combined approach with all the three gene regions provided a better resolution than any of the individual genes by itself. The genes demonstrated monophyly of all major groupings proposed on the morphological basis. Within the Rhynchelmis yakimorum complex, however, the genetic data and distribution suggested that two clades initially referred to as a ‘R. yakimorum variant 1’, one from the lower Snake River drainage in Idaho and one from southern coastal Oregon, might represent two separate species. On the other hand, the sympatric distribution and low genetic distance between Rhynchelmis gustafsoni and a form tentatively identified as ‘R. cf. yakimorum’ (both collected in eastern Idaho) indicated conspecific status. This study also showed that the cytochrome c oxidase subunit I (COI) gene, which may be informative of recent and on-going speciation and useful for species discrimination (as a DNA barcode), is less suitable as a single molecular marker for phylogenetic inference. Regardless of whether one deals with very closely related species (such as those of the yakimorum complex), with taxa with a wide and disjunct distribution (such as Rhynchelmis rostrata), or with more distantly related species, COI data should be supplemented by other genetic markers as well as morphological and biogeographical information.
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