Rapid adoption of next generation sequencing (NGS) in genomic medicine has been driven by low cost, high throughput and rapid advances our understanding the genetic bases human diseases. Today, NGS method dominated space research, quickly entered clinical practice. Because unique features perfectly meet reality (need to do more with less), technology is becoming a driving force realize dream precision medicine. This article describes strengths NGS, panels used medicine, current applications...

Abstract Langerhans cell histiocytosis (LCH) is a well‐known but rare disease that may occur at any age with markedly variable clinical features: self‐regressive, localized, multiorgan, aggressive, or fatal outcome. Congenital LCH and often clinically benign. While characterized by clonal proliferation of cells, its etiology unknown. Although BRAF V600E mutations were recently identified as recurrent genetic alteration in cases, the significance this mutation within heterogeneous spectrum...

Extranodal NK/T-cell lymphoma, nasal type, is a rare type of non-Hodgkin lymphoma that most common in Asia and driven by Epstein-Barr virus infection. These tumors usually arise the region; cases they can involve extranasal sites, often skin, with involvement breast being rare. Lymphomas arising adjacent to implants are rare, reported date have been anaplastic kinase (ALK)-negative large cell lymphoma. Here we report 41-year-old white woman bilateral saline placed for cosmetic reasons who...

This Special Issue in Genes presents articles on different types of hematological malignanciesof interest to hematologists, oncologists, pathologists, and researchers involvedin the care patients with acute chronic leukemias, lymphomas, individualswith an underlying germline genetic predisposition developing hematologic malignancies [...]

The diagnosis and treatment of lymphoid neoplasms have undergone a progressively positive change in the last three decades, with accelerated progress previous decade due to advent genomics cancer diagnosis. Significantly, there has been an increasing emphasis on integrating molecular genetics clinical, morphologic, immunophenotypic, cytogenetic evaluation for As we consider moving forward further advances era, it is first helpful understand our current state knowledge how achieved...

The diagnosis and treatment of lymphoid neoplasms have undergone a continuously progressive positive change in the last three decades, with accelerated progress previous decade due to advent genomics cancer diagnosis. Significantly, there has been an increasing emphasis on integrating molecular genetics clinical, morphological, immunophenotypic, cytogenetic evaluation for As we think moving forward further advances era, it will be first helpful understand our current state knowledge how...

Clustered regularly interspaced short palindromic repeats (CRISPR) based gene-editing has begun to transform the treatment landscape of genetic diseases. The history discovery CRISPR/CRISPR-associated (Cas) proteins/single guide RNA (sgRNA)-based since first report repetitive sequences unknown significance in 1987 is fascinating, instructive, and inspiring for future advances. recent approval CRISPR-Cas9-based gene therapy treat patients with severe sickle cell anemia transfusion-dependent...

We describe 15 patients (9 children) with precursor B-cell (pB) acute lymphoblastic leukemia (ALL) surface immunoglobulin (sIg) light chain restriction revealed by flow cytometric immunophenotyping (FCI). The same sIg+ immunophenotype was present at diagnosis and in 3 relapses 1 patient. In patients, blasts were CD19+CD10+ (bright coexpression) 14, CD34+ 12, κ+ λ+ 3; 8 of 8, terminal deoxyribonucleotidyl transferase (TdT)+; 4, IgD+ 2 IgM+ 1. CD34– cases included TdT+ case, t(1;19)(q23;p13),...

We describe 15 patients (9 children) with precursor B-cell (pB) acute lymphoblastic leukemia (ALL) surface immunoglobulin (sIg) light chain restriction revealed by flow cytometric immunophenotyping (FCI). The same sIg+ immunophenotype was present at diagnosis and in 3 relapses 1 patient. In patients, blasts were CD19+CD10+ (bright coexpression) 14, CD34+ 12, κ+ λ+ 3; 8 of 8, terminal deoxyribonucleotidyl transferase (TdT)+; 4, IgD+ 2 IgM+ 1. CD34– cases included TdT+ case, t(1;19)(q23;p13),...

We studied 42 cases of splenic small B-cell lymphoma (SBL) (21 women, 21 men; aged 32–82 years; median, 65 years) with a definitive diagnosis by the World Health Organization classification: chronic lymphocytic leukemia (CLL), 8; mantle cell (MCL), 9; follicular (FL), 12; marginal zone lymphoma, 13 (splenic [SMZL], extranodal [EMZL], 1). Splenectomy was performed for or therapy; weights were 0.2 to 3.8 kg (median, 1.4 kg). In general, SBLs showed white pulp (WP) expansion; morphologic...

Follicular Hodgkin lymphoma (FHL) is a form of classic with morphologic similarity to nodular lymphocyte predominant (NLPHL). We present the clinicopathologic features 13 FHL cases and compare their 40 NLPHL. Seven males 6 females had in lymph nodes neck (6 patients), axilla (3 groin (2 mediastinum (1 patient) nasopharynx patient). All FHLs follicles small, eccentric germinal centers (GCs) expanded mantle zones containing Reed-Sternberg (RS) cells; reactive GCs also were seen cases. The RS...

To evaluate feasibility of assessing T-cell receptor γ (TRG) clonality by next-generation sequencing (NGS) in hematolymphoid tissues.We evaluated TRG using NGS and polymerase chain reaction (PCR) assays blood, bone marrow, formalin-fixed, paraffin-embedded tissues 41 archived cases, including 21 benign cases with no history any lymphoproliferative disorders (LPDs), 16 LPDs (nine mature neoplasms, seven B-cell neoplasms immune dysregulation-associated LPDs), four atypical from 22 females 19...

Acute myeloid leukemia (AML) is a genetically heterogeneous malignancy that occurs more commonly in adults, and has an increasing incidence, most likely due to age. Precise diagnostic classification of AML requires clinical pathologic information, the latter including morphologic, immunophenotypic, cytogenetic molecular genetic analysis. Risk stratification cytogenetics evaluation as important predictor, with mutations providing additional necessary information. normal comprises about...

Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) is a rare and aggressive malignancy that usually presents with diffuse cutaneous lesions. While favorable response to therapy occurs in majority of cases, sustained long-term uncommon. Most patients subsequently relapse within year. In the following report, we present case 41-year-old woman who has not displayed many clinical features traditionally associated BPDCN. The patient received sporadic chemotherapy treatment over course 2 years,...