Impact of genomic and epigenomic alterations of multigene on a multicancer pedigree.

Background: Germline mutations have been identified in a small number of hereditary cancers, but the genetic predisposition for many familial cancers remains to be elucidated.

Methods: This study identified a Chinese pedigree that presented different cancers (breast cancer, BRCA; adenocarcinoma of the esophagogastric junction, AEG; and B-cell acute lymphoblastic leukemia, B-ALL) in each of the three generations. Whole-genome sequencing and whole-exome sequencing were performed on peripheral blood or bone marrow and cancer biopsy samples.

Preoperative prediction for pathological grade of hepatocellular carcinoma via machine learning-based radiomics.

Objective: To investigate the efficacy of contrast-enhanced computed tomography (CECT)-based radiomics signatures for preoperative prediction of pathological grades of hepatocellular carcinoma (HCC) via machine learning.

Methods: In this single-center retrospective study, data collected from 297 consecutive subjects with HCC were allocated to training dataset (n = 237) and test dataset (n = 60). Manual segmentation of lesion sites was performed with ITK-SNAP, the radiomics features were extracted by the Pyradiomics, and radiomics signatures were synthesized using recursive feature elimination (RFE) method.

Correction: Acute myeloid leukemia with t(4;12)(q12;p13): an aggressive disease with frequent involvement of PDGFRA and ETV6.

[This corrects the article DOI: 10.18632/oncotarget.23743.

A machine learning based approach to identify protected health information in Chinese clinical text.

Background: With the increasing application of electronic health records (EHRs) in the world, protecting private information in clinical text has drawn extensive attention from healthcare providers to researchers. De-identification, the process of identifying and removing protected health information (PHI) from clinical text, has been central to the discourse on medical privacy since 2006. While de-identification is becoming the global norm for handling medical records, there is a paucity of studies on its application on Chinese clinical text.

Prognostic factors and hazard ratios in colorectal cancer patients over 80 years of age: a retrospective, 20-year, single institution review.

Background: An aging population and a high incidence of colorectal cancer (CRC) in patients over the age of 80 make it important to understand survival times, hazard ratios and prognostic factors in this group. A better understanding of these factors will help clinicians determine appropriate therapeutic strategies for such patients, including when more aggressive treatment strategies may be preferred to palliative treatment.

Methods: A retrospective analysis of 619 CRC patients of ≥80 years of age from 1991-2010 at Baylor Scott & White Hospital in Temple, Texas.

Acute myeloid leukemia with t(4;12)(q12;p13): an aggressive disease with frequent involvement of and .

We describe the clinical, morphologic, immunophenotypic and molecular genetic features of 15 cases of acute myeloid leukemia (AML) with t(4;12)(q12;p13). There were 9 men and 6 women, with a median age of 50 years (range, 17-76). Most patients had hypercellular bone marrow with a median blast count of 58% and multilineage dysplasia.

Outcome of Patients with Multiple Myeloma and CKS1B Gene Amplification after Autologous Hematopoietic Stem Cell Transplantation.

The gain/amplification of the CKS1B gene on chromosome 1q21 region is associated with a poor outcome in patients with multiple myeloma (MM). However, there are limited data on the outcome of patients with CKS1B amplification after a single high-dose chemotherapy and autologous hematopoietic stem cell transplantation (auto-HCT). We retrospectively evaluated the outcome of patients with CKS1B amplification who received an auto-HCT between June 2012 and July 2014 at our institution.

Outcomes in patients with multiple myeloma with TP53 deletion after autologous hematopoietic stem cell transplant.

TP53 gene deletion is associated with poor outcomes in multiple myeloma (MM). We report the outcomes of patients with MM with and without TP53 deletion who underwent immunomodulatory drug (IMiD) and/or proteasome inhibitor (PI) induction followed by autologous hematopoietic stem cell transplant (auto-HCT). We identified 34 patients with MM and TP53 deletion who underwent IMiD and/or PI induction followed by auto-HCT at our institution during 2008-2014.

Tardive intermittent massive vaginal bleeding from abnormal blood vessels within cesarean scar: Two more new cases should bring our attention to a new entity.

The two cases in this report had intermittent massive vaginal bleeding with a distant history of cesarean delivery. Such severe bleeding was life-threating but was eventually cured by surgical management. To the best of our knowledge, this is the second report of cases of tardive vaginal bleeding caused by abnormal blood vessels embedded within cesarean scars.

Extramedullary blast crisis as initial presentation in chronic myeloid leukemia with the e1a2 BCR-ABL1 transcript: A case report.

A 23-year-old woman presented with enlarged right inguinal lymph nodes. The pathological examination of the nodes revealed infiltration by myeloid sarcoma. A bone marrow smear and biopsy revealed cytogenetic abnormalities, with 46,XX,t(9;22) and chronic myeloid leukemia (CML) was diagnosed.

Successful treatment of pegaspargase-induced acute hepatotoxicity with vitamin B complex and L-carnitine.

Pegaspargase is a chemotherapy drug used in the treatment of acute lymphoblastic leukemia (ALL). One of the adverse effects of pegaspargase is hepatotoxicity, which can rapidly lead to liver failure and death. We report a patient with ALL who developed pegaspargase-induced severe hepatotoxicity that was rescued by treatment with vitamin B complex and L-carnitine.

Establishment and characterization of a novel MYC/BCL2 "double-hit" diffuse large B cell lymphoma cell line, RC.

Background: Diffuse large B cell lymphoma (DLBCL) is the most common type of lymphoid malignancy worldwide. Approximately 5 % of cases of DLBCL are so-called double-hit lymphomas (DHL), defined by a chromosomal translocation or rearrangement involving MYC/8q24.2 in combination with another recurrent breakpoint, usually BCL2/18q21.

Clinicopathologic, Immunophenotypic, Cytogenetic, and Molecular Features of γδ T-Cell Large Granular Lymphocytic Leukemia: An Analysis of 14 Patients Suggests Biologic Differences With αβ T-Cell Large Granular Lymphocytic Leukemia. [corrected].

Objectives: T-cell large granular lymphocytic (T-LGL) leukemia is a rare disorder in which the neoplastic cells usually express the αβ T-cell receptor (TCR). To determine the significance of γδ TCR expression in this leukemia, we compared the clinicopathologic, immunophenotypic, and genetic features of patients with T-LGL leukemia expressing γδ TCR or αβ TCR.

Methods: We used the World Health Organization classification criteria to confirm the diagnosis.

Genomic and Clinicopathologic Features of Primary Myelofibrosis With Isolated 13q Deletion.

Background: Primary myelofibrosis (PMF) is a rare myeloproliferative stem cell disorder. The genomic features in PMF are poorly understood. Characterization of genomic alternations in PMF helps to determine their association with clinicopathologic features for further therapeutic implications.

Del(20q) in patients with chronic lymphocytic leukemia: a therapy-related abnormality involving lymphoid or myeloid cells.

Deletion 20q (Del(20q)), a common cytogenetic abnormality in myeloid neoplasms, is rare in chronic lymphocytic leukemia. We report 64 patients with chronic lymphocytic leukemia and del(20q), as the sole abnormality in 40, a stemline abnormality in 21, and a secondary abnormality in 3 cases. Fluorescence in situ hybridization (FISH) analysis revealed an additional high-risk abnormality, del(11q) or del(17p), in 25/64 (39%) cases.

Clinical significance of acquired cytogenetic clones in patients with treated follicular lymphoma.

Background: Follicular lymphoma (FL) is the second most common B-cell non-Hodgkin lymphoma worldwide. In most patients, the disease is diagnosed at advanced stages and cannot be cured using conventional therapeutic approaches. To assess the role of cytogenetic abnormalities in therapy-related myeloid neoplasms (tMNs), we studied the clinicopathologic and cytogenetic features of treated FL patients who subsequently developed a new acquired cytogenetic clone (ACC).

NNK-induced DNA methyltransferase 1 in lung tumorigenesis in A/J mice and inhibitory effects of (-)-epigallocatechin-3-gallate.

DNA methyltransferase 1 (DNMT1), a key enzyme mediating DNA methylation, is known to be elevated in various cancers, including the mouse lung tumors induced by the tobacco-specific carcinogen 4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK). However, it is not known whether DNMT1 expression is induced right after NNK treatment and how DNMT1 expression varies throughout lung tumorigenesis. In the present study, we found that administration of NNK to A/J mice caused elevation of DNMT1 in bronchial epithelial cells at Days 1, 3, and 14 after NNK treatment.

Isolated +15 in bone marrow: disease-associated or a benign finding?

It has been controversial if trisomy 15 (+15) as an isolated clonal cytogenetic abnormality in bone marrow (BM) is disease-associated or a benign finding. To answer this question, we retrospectively reviewed our cytogenetic archives and identified 31 patients with isolated +15. Four patients presented with acute myeloid leukemia (AML), +15 was the major clone (56-95% of interphases) in BM and the clonal size of +15 was correlated with blast burden and disease status.

Homozygous inv(11)(q21q23) and MLL gene rearrangement in two patients with myeloid neoplasms.

Rearrangements of the MLL gene located at chromosome 11q23 are common chromosomal abnormalities associated with acute leukemias. In vast majority of cases with MLL gene rearrangements, only one chromosome 11 or a single MLL allele got involved. We report two very unusual cases of myeloid neoplasms with homozygous inv(11)(q21q23) and biallelic MLL rearrangement.

Clinically silent clonal cytogenetic abnormalities arising in patients treated for lymphoid neoplasms.

Newly emerged clonal cytogenetic abnormalities (CCA) in patients with prior cytotoxic therapy are highly concerning for therapy-related myeloid neoplasms (t-MN). In some patients, however, CCA appeared to be clinically "silent". In this study, we describe 25 patients who developed CCA after they received cytotoxic therapies for lymphoid neoplasms but never developed t-MN.

Chromosome 8q24.1/c-MYC abnormality: a marker for high-risk myeloma.

The proto-oncogene c-MYC is rearranged in about 15% of patients with multiple myeloma (MM). We identified 23 patients with MM and c-MYC. Primary objectives were to describe the clinical characteristics, response to therapy, progression-free survival and overall survival (OS).

Involvement of tumor-associated macrophage activation in vitro during development of a novel mantle cell lymphoma cell line, PF-1, derived from a typical patient with relapsed disease.

Human mantle cell lymphoma (MCL) cell lines are scarce and have been only sporadically described and validated, and only a few have been thoroughly molecularly or genetically characterized. We describe here the successful establishment of a new MCL line, PF-1, with typical MCL characteristics. Culturing primary MCL cells in vitro initially gave rise to an essential generative microenvironment "niche" involving macrophages required for MCL growth, and eventually produced the PF-1 MCL cell line.

B acute lymphoblastic leukemia with t(14;19)(q32;p13.1) involving IGH/EPOR: a clinically aggressive subset of disease.

B acute lymphoblastic leukemia (B-ALL) with t(14;19)(q32;p13.1), in which IGH and EPOR are juxtaposed, has been reported rarely. We describe the clinicopathological features of six patients, three men and three women, with a median age of 39 years.