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Archipp Konovalov
Archipp Konovalov

Human Molecular Genetics 5th Edition ##HOT##



Human Molecular Genetics has been carefully crafted over successive editions to provide an authoritative introduction to the molecular aspects of human genetics, genomics and cell biology.Maintaining the features that have made previous editions so popular, this fifth edition has been completely updated in line with the latest developments in the field. Older technologies such as cloning and hybridization have been merged and summarized, coverage of newer DNA sequencing technologies has been expanded, and powerful new gene editing and single-cell genomics technologies have been added. The coverage of GWAS, functional genomics, stem cells, and disease modeling has been expanded. Greater focus is given to inheritance and variation in the context of populations and on the role of epigenetics in gene regulation.




Human Molecular Genetics 5th Edition


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A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the 'go-to' book for those studying human molecular genetics or genomics courses around the world.


Human Molecular Genetics is a semimonthly peer reviewed scientific journal published by the Oxford University Press. It covers all topics related to human molecular genetics. In addition, two "special review" issues are published each year. The editor-in-chief is CHaris Eng (Case Western Reserve University). The journal was established in 1992.


A proven and popular textbook for upper-level undergraduates and graduate students, the new edition of Human Molecular Genetics remains the 'go-to' book for those studying human molecular genetics or genomics courses around the world.


Fundamentals of Molecular Genetics is designed for upper level undergraduates (along with graduate students, and aspiring and current medical professionals) with an interest in human genetic disease and its etiology at the molecular level. We emphasize five core areas:


The upcoming 5th edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours is part of an effort to hierarchically catalogue human cancers arising in various organ systems within a single relational database. This paper summarizes the new WHO classification scheme for myeloid and histiocytic/dendritic neoplasms and provides an overview of the principles and rationale underpinning changes from the prior edition. The definition and diagnosis of disease types continues to be based on multiple clinicopathologic parameters, but with refinement of diagnostic criteria and emphasis on therapeutically and/or prognostically actionable biomarkers. While a genetic basis for defining diseases is sought where possible, the classification strives to keep practical worldwide applicability in perspective. The result is an enhanced, contemporary, evidence-based classification of myeloid and histiocytic/dendritic neoplasms, rooted in molecular biology and an organizational structure that permits future scalability as new discoveries continue to inexorably inform future editions.


The application of this classification is predicated on integrating morphologic (cytology and histology), immunophenotypic, molecular and cytogenetic data. This is in line with previous editions, with expanded numbers of disease types and subtypes that are molecularly defined. It is hoped that the genetic underpinnings of the classification will prompt the provision of health resources to ensure that the necessary genetic testing platforms are available to peruse the full potential of the classification. Notwithstanding, the full published classification will include listing of essential diagnostic criteria that have the broadest possible applicability, particularly in limited resource settings. A further aid to broader applicability is the improved hierarchical structure of the classification, which permits reverting to family (class)-level definitions when detailed molecular genetic analyses may not be feasible; this approach is further elaborated on in the introduction of the blue book.


Clonal haematopoiesis (CH) refers broadly to the presence of a population of cells derived from a mutated multipotent stem/progenitor cell harbouring a selective growth advantage in the absence of unexplained cytopenias, haematological cancers, or other clonal disorders. The incidence of CH increases with age [6]. Substantial advances in understanding the molecular genetics and public health implications of CH took place since the last classification, including recognition of their association with increased overall mortality, cardiovascular diseases, and myeloid malignancies. More specific emerging associations, such as those characterizing the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic UBA1 mutations) syndrome [7], represent manifestations of the interplay between inflammation and CH/myeloid neoplasia that are being gradually uncovered. Inclusion of CH in the classification represents a key inaugural effort to define and codify such myeloid precursor lesions.


Myeloproliferative neoplasms (MPN) are listed in Table 1. The main types remain largely unchanged from the prior edition. Initial diagnostic evaluation of MPN continues to depend on close correlation between clinical features, molecular diagnostics, and usually morphologic evaluation of a trephine bone marrow biopsy. Most MPN patients are diagnosed in chronic phase (CP), which may progress into a blast phase (BP) associated with the accumulation of secondary cytogenetic and/or molecular aberrations.


The classification retains an emphasis on distinguishing between polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) using diagnostic criteria established in previous editions, with minor refinements. Distinction between these types is based on integrating peripheral blood findings with molecular data and bone marrow morphologic evaluation findings, as none of these parameters alone provide sufficient diagnostic specificity.


As in prior editions, MPN, not otherwise specified (MPN-NOS) is a designation that should be reserved for cases with clinical, laboratory, morphologic, and molecular features of MPN but lacking diagnostic criteria of any specific MPN type or with features that overlap across distinct MPN types.


The classification of AML is re-envisioned to emphasize major breakthroughs over the past few years in how this disease is understood and managed. Foremost is the separation of AML with defining genetic abnormalities from AML defined by differentiation. (Table 7) The latter eliminates the previously confusing use of the term AML NOS, under which types based on differentiation were listed. Another key change, as indicated above, is the elimination of the 20% blast requirement for AML types with defining genetic abnormalities (with the exception of AML with BCR::ABL1 fusion and AML with CEBPA mutation). Removal of the blast cutoff requires correlation between morphologic findings and the molecular genetic studies to ensure that the defining abnormality is driving the disease pathology. This approach was deemed more appropriate than assigning another arbitrary lower bone marrow blast cutoff. A third component of the new structure is the introduction of a section on AML with other defined genetic alterations, a landing spot for new and/or uncommon AML subtypes that may (or may not) become defined types in future editions of the classification. As such, the overall AML classification structure continues to emphasize integration of clinical, molecular/genetic, and pathologic parameters and emphasis on clinicopathologic judgement.


Much has been learned about the molecular genetics of histiocytoses/histiocytic neoplasms in recent years. These neoplasms, in particular Langerhans cell histiocytosis/sarcoma, Erdheim-Chester disease, juvenile xanthogranuloma, RDD and histiocytic sarcoma, commonly show mutations in genes of the MAPK pathway, such as BRAF, ARAF, MAP2K1, NRAS and KRAS, albeit with highly variable frequencies, indicating a unifying genetic landscape for diverse histiocytoses and histiocytic neoplasms. ALK-positive histiocytosis furthermore converges on the MAPK pathway, which is one of the signaling pathways mediating ALK activation [87, 88]. Insights on genetic alterations have significant treatment implications, because of availability of highly effective therapy targeting components of the activated signaling pathway, such as BRAF and MEK inhibitors [88,89,90,91,92].


Soft tissue tumors are a relatively rare and diagnostically challenging group of neoplasms that can have varying lines of differentiation. Accurate diagnosis is important for appropriate treatment and prognostication. In the 8 years since the publication of the 4th Edition of World Health Organization (WHO) classification of soft tissue tumors, significant advances have been made in our understanding of soft tissue tumor molecular biology and diagnostic criteria. The 5th Edition of the 2020 WHO classification of tumors of soft tissue and bone incorporated these changes. Classification of tumors, in general, but particularly in soft tissue tumors, is increasingly based on the molecular characteristics of tumor types. Understanding tumor molecular genetics improves diagnostic accuracy for tumors that have been difficult to classify on the basis of morphology alone, or that have overlapping morphologic features. In many large hospitals in the United States and Europe, molecular tests on soft tissue tumors are a routine part of diagnosis. Therefore, surgical pathologists should be familiar with newly emerging molecular genetic techniques in clinical settings. In the near future, molecular tests, particularly in soft tissue tumor diagnosis, will become as routine during diagnosis as immunohistochemistry is currently. This new edition provides an updated classification scheme and essential diagnostic criteria for soft tissue tumors. Newly recognized entities and subtypes of existing tumor types, several reclassified tumors, and newly defined molecular and genetic data have been incorporated. Herein, we summarize the updates in the WHO 5th Edition, focusing on major changes in each category of soft tissue tumor, and the newly described tumor entities and subtypes. 041b061a72


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