B‐prolymphocytic leukemia (B‐PLL) with genetic aberrations involving MYC and TP53

Thyroid cancer is the most prevalent endocrine malignancy that comprises mostly indolent differentiated cancers (DTCs) and less frequently aggressive poorly differentiated (PDTC) or anaplastic cancers (ATCs) with high mortality. Utilisation of next-generation sequencing (NGS) and advanced sequencing data analysis can aid in understanding the multi-step progression model in the development of thyroid cancers and their metastatic potential at a molecular level, promoting a targeted approach to further research and development of targeted treatment options including immunotherapy, especially for the aggressive variants. Tumour initiation and progression in thyroid cancer occurs through constitutional activation of the mitogen-activated protein kinase (MAPK) pathway through mutations in BRAF, RAS, mutations in the phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) pathway and/or receptor tyrosine kinase fusions/translocations, and other genetic aberrations acquired in a stepwise manner. This review provides a summary of the recent genetic aberrations implicated in the development and progression of thyroid cancer and implications for immunotherapy.

Download Full-text

Prenatal Diagnosis of Genetic Aberrations in Fetuses with Short Femur Detected by Ultrasound: A Prospective Cohort Study

Prenatal Diagnosis ◽

10.1002/pd.6006 ◽

2021 ◽

Author(s):

Qinqin Li ◽

Zhu Zhang ◽

Jiamin Wang ◽

Haixia Zhang ◽

Hongmei Zhu ◽

...

Keyword(s):

Cohort Study ◽

Prenatal Diagnosis ◽

Prospective Cohort Study ◽

Prospective Cohort ◽

Genetic Aberrations

Download Full-text

Genetic pathogenesis of immunoglobulin light chain amyloidosis: basic characteristics and clinical applications

Experimental Hematology and Oncology ◽

10.1186/s40164-021-00236-z ◽

2021 ◽

Vol 10 (1) ◽

Author(s):

Linchun Xu ◽

Yongzhong Su

Keyword(s):

Plasma Cell ◽

Light Chain ◽

Amyloid Fibril ◽

Treatment Modalities ◽

Driver Gene ◽

Immunoglobulin Light Chain ◽

Disease Evolution ◽

Genetic Aberrations ◽

Light Chain Amyloidosis ◽

Immunoglobulin Light Chain Amyloidosis

AbstractImmunoglobulin light chain amyloidosis (AL) is an indolent plasma cell disorder characterized by free immunoglobulin light chain (FLC) misfolding and amyloid fibril deposition. The cytogenetic pattern of AL shows profound similarity with that of other plasma cell disorders but harbors distinct features. AL can be classified into two primary subtypes: non-hyperdiploidy and hyperdiploidy. Non-hyperdiploidy usually involves immunoglobulin heavy chain translocations, and t(11;14) is the hallmark of this disease. T(11;14) is associated with low plasma cell count but high FLC level and displays distinct response outcomes to different treatment modalities. Hyperdiploidy is associated with plasmacytosis and subclone formation, and it generally confers a neutral or inferior prognostic outcome. Other chromosome abnormalities and driver gene mutations are considered as secondary cytogenetic aberrations that occur during disease evolution. These genetic aberrations contribute to the proliferation of plasma cells, which secrete excess FLC for amyloid deposition. Other genetic factors, such as specific usage of immunoglobulin light chain germline genes and light chain somatic mutations, also play an essential role in amyloid fibril deposition in AL. This paper will propose a framework of AL classification based on genetic aberrations and discuss the amyloid formation of AL from a genetic aspect.

Download Full-text