Diagnosis and classification of hematologic malignancies on the basis of genetics

J Taylor, W Xiao, O Abdel-Wahab - Blood, The Journal of the …, 2017 - ashpublications.org
Genomic analysis has greatly influenced the diagnosis and clinical management of patients
affected by diverse forms of hematologic malignancies. Here, we review how genetic …

MEN4 and CDKN1B mutations: the latest of the MEN syndromes

R Alrezk, F Hannah-Shmouni… - Endocrine-related …, 2017 - erc.bioscientifica.com
Multiple endocrine neoplasia (MEN) refers to a group of autosomal dominant disorders with
generally high penetrance that lead to the development of a wide spectrum of endocrine and …

Hairy cell leukemia: 2020 update on diagnosis, risk stratification, and treatment

E Maitre, E Cornet, X Troussard - American journal of …, 2019 - pubmed.ncbi.nlm.nih.gov
Disease overview Hairy cell leukemia (HCL) and HCL-like disorders, including HCL variant
(HCL-V) and splenic diffuse red pulp lymphoma (SDRPL), are a very heterogeneous group …

Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia

V Madan, P Shyamsunder, L Han, A Mayakonda… - Leukemia, 2016 - nature.com
Acute promyelocytic leukemia (APL) is a subtype of myeloid leukemia characterized by
differentiation block at the promyelocyte stage. Besides the presence of chromosomal …

Molecular and clinical spectrum of primary hyperparathyroidism

S Jha, WF Simonds - Endocrine Reviews, 2023 - academic.oup.com
Recent data suggest an increase in the overall incidence of parathyroid disorders, with
primary hyperparathyroidism (PHPT) being the most prevalent parathyroid disorder. PHPT is …

Genomic analysis of hairy cell leukemia identifies novel recurrent genetic alterations

BH Durham, B Getta, S Dietrich, J Taylor… - Blood, The Journal …, 2017 - ashpublications.org
Classical hairy cell leukemia (cHCL) is characterized by a near 100% frequency of the BRAF
V600E mutation, whereas∼ 30% of variant HCLs (vHCLs) have MAP2K1 mutations …

BRAF inhibition in hairy cell leukemia with low-dose vemurafenib

S Dietrich, A Pircher, V Endris… - Blood, The Journal …, 2016 - ashpublications.org
The activating mutation of the BRAF serine/threonine protein kinase (BRAF V600E) is the
key driver mutation in hairy cell leukemia (HCL), suggesting opportunities for therapeutic …

BRAF V600E mutation in hairy cell leukemia: from bench to bedside

B Falini, MP Martelli, E Tiacci - Blood, The Journal of the …, 2016 - ashpublications.org
Hairy cell leukemia (HCL) is a distinct clinicopathological entity whose underlying genetic
lesion has remained a mystery for over half a century. The BRAF V600E mutation is now …

Exosomes released from M2 macrophages transfer miR‐221‐3p contributed to EOC progression through targeting CDKN1B

X Li, M Tang - Cancer medicine, 2020 - Wiley Online Library
In contrast to other solid tumors within the abdominal cavity, epithelial ovarian cancers
(EOCs) tend to undergo peritoneal metastasis. Thus, the peritoneal immune …

Chromatin remodeling mediated by ARID1A is indispensable for normal hematopoiesis in mice

L Han, V Madan, A Mayakonda, P Dakle, TW Woon… - Leukemia, 2019 - nature.com
Precise regulation of chromatin architecture is vital to physiological processes including
hematopoiesis. ARID1A is a core component of the mammalian SWI/SNF complex, which is …