[Analysis of NF1 gene variants in a Chinese pedigree and a sporadic patient with Neurofibromatosis type 1].

Objective: To explore the genetic basis for a Chinese pedigree and a sporadic case with Neurofibromatosis type 1 (NF1).

Methods: Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from peripheral venous blood samples and subjected to whole exome sequencing.

Myeloid sarcoma as the only manifestation in a rare mixed lineage leukemia-fusion-driven acute myeloid leukemia: A case report.

Background: The mixed lineage leukemia (MLL)-eleven-nineteen lysine-rich leukemia (ELL) fusion gene is a rare occurrence among the various MLL fusion genes. We present the first case in which myeloid sarcoma (MS) was the only manifestation of adult MLL-ELL-positive acute myeloid leukemia (AML).

Case Summary: We report a case of a 33-year-old male patient who was admitted in June 2022 with a right occipital area mass measuring approximately 7 cm × 8 cm.

PPFIBP1 activates NF-κB signaling to enhance chemoresistance of multiple myeloma.

Easily developed chemoresistance is a major characteristic of multiple myeloma (MM) and the main obstacle in curing MM in the clinic, but the key regulators have not been fully identified. In the current study, we find that PPFIA Binding Protein 1 (PPFIBP1) is highly expressed in the plasma cells from MM patients, and higher PPFIBP1 expression predicts poorer outcomes. PPFPIBP1 enhances chemoresistance of MM cells to the treatment of bortezomib (BTZ), a proteasome inhibitor, and manipulation of PPFPIBP1 can alter chemosensitivity of MM cells to BTZ.

Additional cytogenetic abnormalities in patients with newly diagnosed acute promyelocytic leukemia predict inferior event-free survival.

Background: The innovative combination of all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) has established a new chapter of curative approach in acute promyelocytic leukemia (APL). The disease characteristics and prognostic influence of additional cytogenetic abnormalities (ACA) in APL with modern therapeutic strategy need to be elucidated.

Methods: In the present study, we retrospectively investigated disease features and prognostic power of ACA in 171 APL patients treated with ATRA-ATO-containing regimens.

Sports Bras Improve Chest Keloids but Outcomes Are Dependent on Breast Size: A Retrospective Analysis.

Our study is a retrospective medical record review performed on 95 female keloid patients with the standard therapy combining complete surgical excision with superficial X-ray radiation. We aimed to analyze the relationship between breast size and treatment outcomes as well as the benefits of sports bras in the postoperative management of keloids. The results showed that the keloid score of no sports bra group was significantly worse than the score of sports bra group at 1-year follow-up.

Epigenetic Marks and Variation of Sequence-Based Information Along Genomic Regions Are Predictive of Recombination Hot/Cold Spots in .

Characterization and identification of recombination hotspots provide important insights into the mechanism of recombination and genome evolution. In contrast with existing sequence-based models for predicting recombination hotspots which were defined in a ORF-based manner, here, we first defined recombination hot/cold spots based on public high-resolution Spo11-oligo-seq data, then characterized them in terms of DNA sequence and epigenetic marks, and finally presented classifiers to identify hotspots. We found that, in addition to some previously discovered DNA-based features like GC-skew, recombination hotspots in yeast can also be characterized by some remarkable features associated with DNA physical properties and shape.

Spatial distribution, risk assessment, and source identification of pollutants around gold tailings ponds: a case study in Pinggu District, Beijing, China.

This work investigated heavy metal and cyanide pollution in surface soils and edible plants around Yanzhuang gold tailings ponds in the region of Yanzhuang Village in Pinggu District, Beijing. Surface soil samples were collected from 33 sites around gold tailings ponds, and concentrations of seven heavy metals (i.e.

Targeting NSD2-mediated SRC-3 liquid-liquid phase separation sensitizes bortezomib treatment in multiple myeloma.

Development of chemoresistance is the main reason for failure of clinical management of multiple myeloma (MM), but the genetic and epigenetic aberrations that interact to confer such chemoresistance remains unknown. In the present study, we find that high steroid receptor coactivator-3 (SRC-3) expression is correlated with relapse/refractory and poor outcomes in MM patients treated with bortezomib (BTZ)-based regimens. Furthermore, in immortalized cell lines, high SRC-3 enhances resistance to proteasome inhibitor (PI)-induced apoptosis.

Proteasome inhibitor induced SIRT1 deacetylates GLI2 to enhance hedgehog signaling activity and drug resistance in multiple myeloma.

Multiple myeloma (MM) is still incurable despite the successful application of proteasome inhibitors in clinic. Bortezomib represents the most common chemotherapy for MM, whereas acquired drug resistance and eventually developed relapse remain the major obstruction. In the current study, we established bortezomib-resistant myeloma cell lines and screened gene expression profiles using single cell RNA-sequencing.

Increased number of mast cells in the bone marrow of chronic myeloid leukemia may herald the pending myeloid transformation-the mast cell is an indicator of myeloid transformation.

Background: Tumor cells are surrounded by many inflammatory cells, including mast cells (MCs), which can secrete several classic proangiogenic factors, resulting in endothelial cell proliferation and angiogenesis. However, the researches of the number of MC and microvessel density (MVD) in the bone marrow in chronic myeloid leukemia (CML) are rare. In this study, we aimed to investigate the relationship between tryptase-positive MCs and MVD in the different phases of CML.

Clonal evolution in a chronic neutrophilic leukemia patient.

Objectives and importance: Chronic neutrophilic leukemia (CNL) is a distinct myeloproliferative neoplasm with a high prevalence (>80%) of mutations in the colony-stimulating factor 3 receptor (CSF3R); these mutations activate the receptor, leading to the proliferation of neutrophils that are a hallmark of CNL. Clinical presentation: We present a male patient who presented peripheral blood leukocytosis. On the basis of his morphological appearances and molecular findings he was determined to have a diagnosis of chronic neutrophilic leukemia.

Identification of a novel mutation in the mechanoreceptor-encoding gene CXCR1 in patients with keloid.

Keloids are skin fibroproliferative tumors characterized by locally invasive growth of fibroblasts and excessive collagen deposition. The objective of this study is to investigate the molecular basis of the keloid scar by studying the mutation of related genes. We performed gene screening of mechanoreceptors by quantitative polymerase chain reaction (qPCR), Sanger sequencing to detect the CXCR1gene mutation, and immuno-histochemistry to determine CXCR1 protein expression.

Successful management of a complicated clinical crisis: A patient with left-sided endocarditis and secondary hemophagocytic lymphohistiocytosis: a rare case report and literature review.

Rationale: Hemophagocytic lymphohistiocytosis (HLH) secondary to methicillin-resistant Staphylococcus epidermidis (MRSE)-related left-sided infectious endocarditis had never been reported before. In the last decade, daptomycin, a novel lipopeptide antibiotic, showed its excellent role in anti-Gram-positive bacteria, including soft tissue infection, bloodstream and deep tissueinfection.

Patient Concerns: An Asian women under sever condition due to the cooccurrence of HLH and MRSE-related endocarditis while also be allergic to vancomycin.

Prognostic relevance of protein expression, clinical factors, and mutation in primary bone lymphoma.

Primary bone lymphomas (PBLs) are composed of malignant lymphoid cells presenting in osseous sites, without supra-regional lymph node or extranodal involvement. We systematically characterized the immunophenotype and the myeloid differentiation factor 88 ()-L265P gene mutation status in PBL. Clinical data from 19 patients with PBL treated at Nanjing Drum Tower Hospital between 2009 and 2015 were analyzed retrospectively.

Prognostic value of expression of nuclear factor kappa-B/p65 in non-GCB DLBCL patients.

Purpose: We estimated the expression of nuclear factor kappa B/p65 in non-germinal center B-cell-like subtype diffuse large B-cell lymphoma, to investigate its relationship to clinicopathological features, and to further evaluate its prognostic value and clarify its impact on survival.

Results: Among the 49 patients enrolled in this study, 14 (28.6%) had positive p65 expression.

JAK2, MPL, and CALR mutations in Chinese Han patients with essential thrombocythemia.

Background: Mutations in Janus kinase 2 (JAK2), myeloproliferative leukemia (MPL), and CALR are highly relevant to Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms.

Methods: Assessing the prevalence of molecular mutations in Chinese Han patients with essential thrombocythemia (ET), and correlating their mutational profile with disease characteristics/phenotype.

Results: Of the 110 subjects studied, 62 carried the JAK2 V617F mutation, 21 had CALR mutations, one carried an MPL (W515) mutation, and 28 had non-mutated JAK2, CALR, and MPL (so-called triple-negative ET).

Prognostic role of pretreatment neutrophil-lymphocyte ratio in patients with diffuse large B-cell lymphoma treated with RCHOP.

This study aims to investigate whether neutrophil to lymphocyte ratio (NLR) is an independent predictor in newly diagnosed diffuse large B-cell lymphoma (DLBCL) patients in the rituximab era. Data from newly diagnosed DLBCL patients at Nanjing Drum Tower Hospital from 2006 to 2015 were retrospectively reviewed. We used the receiver operating characteristic (ROC) curve analysis to generate the optimal cutoff value for NLR.

[Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris].

Objective: To identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.

Methods: All coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls.

The level of peripheral blood circulating CD34+ cells is higher in acute promyelocytic leukemia patients with adverse prognostic factors.

Introduction: The increased flow cytometry enumeration of peripheral blood circulating CD34+ cells in patients with acute leukemia has been found in our previous work. In this study, we also demonstrated that acute promyelocytic leukemia (APL) patients not only had elevated CD34+ cell count, but also had some clinical features.

Methods: Fifty APL patients and 19 healthy volunteers were included in the study.

A case of myeloid neoplasm with FIP1L1-PDGFRA rearrangement without marked peripheral blood eosinophilia.

We report a 29-year-old man with double hip pain and lower limb weakness for 6 months with myeloid neoplasm with FIP1L1-PDGFRA rearrangement without marked peripheral blood eosinophilia. Nested reverse transcription polymerase chain reaction demonstrated that bone marrow was positive for FIP1L1-PDGFRA rearrangement. The patient consequently received imatinib treatment at a dosage of 100 mg daily.