Clinical characteristics of 11 patients with chronic lymphocytic leukemia with t (14;19) (q32;q13) / 中华血液学杂志

Objective: To analyze the clinicopathological characteristics of 11 cases of chronic lymphocytic leukemia (CLL) with t (14;19) (q32;q13) . Methods: The case data of 11 patients with CLL with t (14;19) (q32;q13) in the chromosome karyotype analysis results of the Blood Diseases Hospital, Chinese Academy of Medical Sciences from January 1, 2018, to July 30, 2022, were retrospectively analyzed. Results: In all 11 patients, t (14;19) (q32;q13) involved IGH::BCL3 gene rearrangement, and most of them were accompanied by +12 or complex karyotype. An immunophenotypic score of 4-5 was found in 7 patients and 3 in 4 cases. We demonstrated that CLLs with t (14;19) (q32;q13) had a mutational pattern with recurrent mutations in NOTCH1 (3/7), FBXW7 (3/7), and KMT2D (2/7). The very-high-risk, high-risk, intermediate-risk, and low-risk groups consisted of 1, 1, 6, and 3 cases, respectively. Two patients died, 8 survived, and 2 were lost in follow-up. Four patients had disease progression or relapse during treatment. The median time to the first therapy was 1 month. Conclusion: t (14;19) (q32;q13), involving IGH::BCL3 gene rearrangement, is a rare recurrent cytogenetic abnormality in CLL, which is associated with a poor prognosis.

Chronic lymphocytic leukemia with t(14;18)(q32;q21): report of 3 cases and review of literature / 白血病·淋巴瘤

Objective:To improve the understanding of chronic lymphoblastic leukemia (CLL) with t(14;18)(q32;q21).Methods:The clinical data of 3 cases diagnosed as CLL with t(14;18)(q32;q21) in the Tianjin KingMed Medical Laboratory from January 2020 to January 2021 were retrospectively analyzed. The clinicopathological data, morphological examination, immunophenotype, cytogenetics and somatic mutation of immunoglobulin heavy chain variable region genes of patients were comprehensively analyzed, and the literature was reviewed.Results:All the 3 patients showed lymphatic proliferative diseases, and their morphological characteristics and immunophenotype were typical characteristics of CLL.Conclusions:The diagnosis of CLL is mainly based on the typical morphology and immunophenotype of tumor cells. The presence of t(14;18) should not be used to exclude the diagnosis of CLL.

14q32 miRNA cluster in hepatocellular carcinoma / 军事医学

Hepatocellular carcinoma ( HCC) , as one of the most common malignant neoplasms , has a relatively high morbidity and mortality rate worldwide.MicroRNAs (miRNAs),a type of comparatively conserved endogenous small non-coding RNAs, function as pivotal regulators involved in various biological functions through the post -transcriptional regulation of gene expression .Some miRNA genes are arranged into a intandem model and reside close together on the same chromosome , forming miRNA clusters . These clustered miRNAs are mostly located on polycistronic transcripts and expressed at similar levels.In the human imprinted 14q32 region, 52 miRNA genes are organized as a large cluster which spans about 220 kb of the long arm ( q) .Lines of evidence show that dysregulation of miRNAs in this cluster are involved in the development of HCC .This review summarizes the structural characteristics of 14 q32 miRNA cluster as well as its impact on HCC in initiation and progression .

14q32.33 Deletion Identified by array-CGH in a 5-year old-girl with Seizure

Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we identified a young girl with 0.3 Mb terminal 14q32.33 deletion. Review of the nine cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. The phenotype of our patient is much less severe than the phenotypes of the patients reported previously. We report our experience in examining the clinical, behavioral, and cognitive findings in a 5-year-old girl studied with chromosomal microarray hybridization and reviewed previously reported patients with 14q32 deletions.

Deleção do cromossomo 9 na região q22q32 em bebê com cariótipo 46XY: relato de um caso / Deletion of chromosome 9 in the region q22q32 in a male baby with karyotype 46XY: report of a case

Este trabalho teve como objetivo o estudo laboratorial e por imagem das malformações de um bebê do sexo masculino que apresentou, por ocasião do parto, prematuridade, cardiopatia congênita, insuficiência respiratória e malformação congênita. O estudo ecográfico gestacional mostrou o osso nasal hipoplásico e a coluna vertebral com pequeno desvio na transição entre a coluna cervical e a torácica. No coração foi constatada a presença de Golf-Ball em ventrículo esquerdo e no trato genitourinário, pielectasia renal bilateral. Os estudos citogenéticos diagnosticaram deleção intersticial do cromossomo 9 do segmento q22q32 no braço longo, onde se estabeleceu o cariótipo 46,XY,del(9)(q22q32).

This study aimed at the laboratory and imaging investigation of malformations in a male baby that presented prematurity, congenital cardiopathy, respiratory failure and congenital malformation at the time of delivery. The gestational ultrasonography showed a hypoplastic nasal bone and a minor spinal deviation at the transition between the cervical and thoracic spine. There was Golf-Ball in the left ventricle and, in the genitourinary tract, bilateral renal pyeloectasis was observed. Cytogenetic studies revealed interstitial deletion of chromosome 9 from the segment q22q32 in the long arm, where the karyotype 46, XY, del (9) (q22q32) was identified.

Acute Lymphoblastic Leukemia with Chromosomal Translocation t (5; 14) (q31; q32) and Hypereosinophilia in a Child / 대한소아혈액종양학회지

Hypereosinophilia has been associated with a variety of underlying disorders such as parasitic, fungal and mycobacterial infections, allergic disorders, collagen vascular diseases, or hypereosinophilic syndrome (HES). The association of acute lymphoblastic leukemia (ALL) and symptomatic eosinophilia is rare and only a few cases have been reported. HES probably occurs in less than 1% of all patients with ALL. The chromosomal translocation t (5; 14) (q31; q32) was cloned at the molecular level in ALL with eosinophilia. This translocation joined the immunoglobulin heavy chain region to the promoter region of the interleukin-3 (IL-3) gene in opposite transcriptional orientation. The IL-3 gene translocated with the immunoglobulin heavy chain gene may play a central role in the pathogenesis of this leukemia and the associated eosinophilia. We describe a 8-year-old boy who presented with hypereosinophilia and concurrent ALL with t (5; 14).

A Case of Del 13(q24) Syndrome with Multiple Anomalies / 소아과

It has been estimated that chromosomal aberrations account for 2.3% to 3% of normal pregnancies, and of them, 85% are aborted. Therefore, the survival rate of neonates with chromosomal aberrations is very low. Among them, patients with partial deletion of the long arm of chromosome 13 are very rare. The natural history of deletion of the long arm is dependent on the deleted segment. It has been known that patients with proximal deletions not extending into q32 usually show mild to moderate mental retardation, variable minor anomalies, and growth retardation. Patients with more distal deletions, including at least part of q32, usually have severe mental retardation, growth deficiency, and major malformations including microcephaly and CNS defects, distal limb anomalies, eye defects, and gastrointestinal malformation. We report a case of a 13(q24) deletion male infant who showed intrauterine growth retardation, imperforate anus, CNS anomalies, hydronephrosis, clubfoot, clinodactyly and developmental delay, although his deletion site was proximal to q32.

A Case of Non-secretory Plasma Cell Leukemia with Complex Chromosomal Abnormalities / 대한혈액학회지

We report a case of non-secretory plasma cell leukemia with complex chromosomal abnormalities including t (11;14)(q13;q32). A 57-year-old man was admitted to hospital due to anemia, thrombocytopenia and renal insufficiency. Bone marrow examination and peripheral blood smear revealed a large number of immature plasma cells with positivity for CD38. Monoclonal gammopathy or abnormal paraproteins were not observed in serum protein electrophoresis and immunofixation. The cytogenetic analysis showed complex chromosomal abnormalities [45, XY, -1, t (11;14)(q13;q32), t (12;17)(p13;q21)]. He was died of adult respiratory distress syndrome on the 6th hospital day.

Reassessment of a Dup (1)(q21q32), Trp (1)(q21q32) in a Case of Myelodysplastic Syndrome by CGH (Comparative Genomic Hybridization) / 대한혈액학회지

Acquired partial duplication or triplication of the long arm of human chromosome 1 has been observed rarely in myelodysplastic syndrome (MDS). We describe a dup (1)(q21q32), trp (1)(q21q32) in a patient with refractory anemia of MDS. A 51-year-old man was admitted for dyspnea. Five months ago, he was diagnosed with myelodysplastic syndrome (RA) and iron deficiency anemia and had been treated with iron, vitamin B12, oxymetholone, and prednisolone. The karyotype of trypsin-Giemsa-banded metaphase cells obtained from bone marrow aspirates was 46, XY, dup (1)(q21q32)x2[5]/46,XY,trp (1)(q21q32)[2]/46, XY, dup (1)(q21q32), trp (1)(q21q32)[2] and confirmed the amplification of 1q21-1q32 by CGH (comparative genomic hybridization). In this assay, test and reference DNAs are labeled with FITC and Texas Red, respectively and co-hybridized to normal metaphase chromosomes. Ratio profiles of each individual chromosome were analyzed using a Quips-XL software (Vysis, Downers Grove, IL, USA). The thresholds of gain and loss were defined 1.2 and 0.8, respectively.