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1.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 28(1): 136-140, 2020 Feb.
Artículo en Chino | MEDLINE | ID: mdl-32027266

RESUMEN

OBJECTIVE: To analyze the relationship between cytogenetic changes and the progression in the patients with chronic myeloid leukemia (CML) during the treatment with tyrosine kinase inhibitor (TKI). METHODS: The chromosome G banding of 150 patients with CML treated in our hospital, was carried out to analyze the karyotype by the 24 h short-term culture or direct method of bone marrow cells, and the point mutation of the ABL kinase area was detected, the relationship between cytogenetic changes and the evolution of the disease course was analyzed. RESULTS: The indirect fluorescence in situ hybridization showed that the BCR-ABL fusion gene of 150 patients was positive, out of which 142 cases showed positive Philadelphia (Ph) (94.67%), 8 cases with Ph negative (5.33%). Among 142 cases with Ph positive on the first diagnosis, and 14 cases (9.86%) with additional chromosome abnormality (9.86%), 4 cases (2.82%) with mutation translocation with 124 cases (87.32%), standard translocation t (9; 22) (q34; Q11) were found. Out of the 14 patients with additional chromosomal abnormalities, 8 cases with "main pathmay" abnormalities, 2 case with -Y abnormalities, and 4 cases with "secondary pathway" abnormalities were observed. During TKI treatment, additional chromosomal abnormalities were found in 46 patients with standard translocation and abnormal number of chromosomes, and the incidence of disease progression and point mutation were higher (P<0.05). Compared with patients with the standard translocation, the disease-free survival rate of the patients diagnosed as CML at 1st visit and with additional chromosome abnormality was significantly decreased (P<0.05), but the overall survival rate showed no significantly different (P>0.05). Compared with patients without additional cvtogenetic aberrations, the disease free and overall survival rate of the patients with additional cytogenetic aberrations during the TKI treatment of CML in chronic phase were significantly decreased (P<0.05). CONCLUSION: Some CML patients may have additional chromosomal abnormalities during the onset and development of the disease, and these patients are at higher risk of disease progression.


Asunto(s)
Leucemia Mielógena Crónica BCR-ABL Positiva , Cromosoma Filadelfia , Inhibidores de Proteínas Quinasas/uso terapéutico , Aberraciones Cromosómicas , Análisis Citogenético , Citogenética , Humanos , Hibridación Fluorescente in Situ , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Translocación Genética
2.
Medicine (Baltimore) ; 99(3): e18726, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-32011450

RESUMEN

Immune-checkpoint inhibitor (ICI) efficacy in patients with non-small cell lung cancer (NSCLC) harboring molecular alterations remains poorly elucidated. This study was undertaken to determine ICI efficacy against epidermal growth-factor receptor (EGFR)/anaplastic lymphoma kinase (ALK)/c-ros oncogene 1 (ROS1)-mutated NSCLC patients in the real-world setting.In this retrospective, multicenter study on adults with ICI-treated EGFR-mutated or ALK- or ROS1-translated NSCLCs, we analyzed clinical characteristics and outcomes: ICI-treatment duration, and progression-free survival (PFS), objective response rate, duration of response, and overall survival (OS) from immunotherapy initiation.Fifty-one NSCLC patients (mean age, 58.0 years) were included from 20 French centers: 61% were never-smokers and 59% were women. Among them, 82% had EGFR-activating mutations, 16% ALK translocations, or 2% ROS1 translocations. Before ICI therapy, patients had received a median of 3 treatment lines (including tyrosine-kinase inhibitor). The median PFS was 2.1 (95% confidence interval [CI], 1.5-3.2) months for the entire cohort, 2.2 (95% CI, 1.4-3.2) for EGFR-mutated patients, and 2.4 (95% CI, 2.1-not reached) months for ALK-translocated patients. The median OS was 14.7 (95% CI, 12.1-19.2) months for the entire population and 13.9 (95% CI, 8.8-20.0) and 19.2 (95% CI, 13.1-not reached) months for EGFR-mutated and ALK-translocated patients, respectively. Seven (13.7%) patients were treated with ICI for >9 months. Toxicities were reported in 22% (11/51), including 8% (4/51) grade ≥3.In this real-world setting, analysis of ICI PFS against EGFR-mutated or ALK-translocated NSCLC patients appeared close to that observed in pretreated unselected NSCLC patients. The more promising OS probably linked to post-ICI treatments. Large prospective studies on these patient subsets are needed.


Asunto(s)
Adenocarcinoma/tratamiento farmacológico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Antineoplásicos Inmunológicos/uso terapéutico , Neoplasias Pulmonares/tratamiento farmacológico , Receptor de Muerte Celular Programada 1/antagonistas & inhibidores , Adenocarcinoma/enzimología , Adenocarcinoma/genética , Quinasa de Linfoma Anaplásico/genética , Receptores ErbB/genética , Femenino , Francia , Humanos , Neoplasias Pulmonares/enzimología , Neoplasias Pulmonares/genética , Masculino , Persona de Mediana Edad , Proteínas Tirosina Quinasas Receptoras/genética , Estudios Retrospectivos , Translocación Genética
3.
Rinsho Ketsueki ; 61(1): 47-51, 2020.
Artículo en Japonés | MEDLINE | ID: mdl-32023603

RESUMEN

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a hematological malignancy, which seems to originate from the precursor of plasmacytoid dendritic cells. Because BPDCN has an aggressive course and poor prognosis, development of new treatment strategies is essential. Next-Generation Sequencing, a recently evolved technology, reveals new molecular mechanism of BPDCN development. Here I will discuss the recent research on the treatment of BPDCN, including the relationship between chromosomal translocation and enhancer hijacking in BPDCN.


Asunto(s)
Neoplasias Hematológicas , Trastornos Mieloproliferativos , Neoplasias Cutáneas , Translocación Genética , Células Dendríticas , Humanos
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 8-11, 2020 Jan 10.
Artículo en Chino | MEDLINE | ID: mdl-31922586

RESUMEN

OBJECTIVE: To explore the genetic basis for a fetus with Dandy-Walker malformation. METHODS: G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents. RESULTS: SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6;14) (p25.1;p13) translocation, while the fetus has a der(6)t(6;14)(p25.1;p13) derived the paternal translocation. CONCLUSION: The der(6)t(6;14)(p25.1;p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father's cryptic balanced translocation.


Asunto(s)
Síndrome de Dandy-Walker , Translocación Genética , Síndrome de Dandy-Walker/diagnóstico , Síndrome de Dandy-Walker/genética , Femenino , Feto , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Embarazo , Diagnóstico Prenatal
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 37-40, 2020 Jan 10.
Artículo en Chino | MEDLINE | ID: mdl-31922593

RESUMEN

OBJECTIVE: To determine the frequency, common chromosomal karyotypes and breakpoints, and involved regions among carriers of reciprocal translocations from Henan Province, and to explore the influence of common breakpoint regions on pregnancy and fetal development. METHODS: For 586 carriers of reciprocal translocations, the above features were retrospectively analyzed. RESULTS: The 586 reciprocal translocations were identified among 62 477 subjects, which yielded a frequency of 0.94%. Among these, 572 (0.92%) had abnormal fertility, and 14 (0.02%) had a history of abnormal fetal development. Statistical analysis showed that chromosomes 1, 4, 7 and 11 were most frequently involved, with t(11;22)(q25;q13) being the most common type of translocation. In total 437 breakpoint regions were identified, with 11q23, 22q13 and 1p36 being most frequently involved, which resulted in infertility, abortion, embryo death, congenital malformation, development delay, mental retardation or a normal phenotype. CONCLUSION: Above results indicated a 0.92% carrier rate for reciprocal chromosomal translocations in Henan. The location of breakpoint regions may affect the pregnancy and/or fetal development. Discovery of such regions may enable more accurate genetic, reproductive and developmental counseling for carriers, and provide reference for delineation of function and pathogenetic mechanism of the relevant genes.


Asunto(s)
Puntos de Rotura del Cromosoma , Translocación Genética , Femenino , Heterocigoto , Humanos , Cariotipo , Cariotipificación , Embarazo , Estudios Retrospectivos , Translocación Genética/genética
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 48-51, 2020 Jan 10.
Artículo en Chino | MEDLINE | ID: mdl-31922596

RESUMEN

OBJECTIVE: To carry out multipath cytogenetic analysis of a rare case of acute myeloid leukemia (AML) with 11q23 aberration and D13S319 deletion. METHODS: G+R banding technique was used to analyze the chromosomal karyotype of the patient after 24 h of cell culture. Combined interphase and metaphase fluorescence in situ hybridization (FISH) was used to detect specific chromosomal sites for complex translocations and minor missing fragments. RESULTS: The patient was found to harbor MLL-AF10 fusion gene due to rearrangement of the mixed lineage leukemia (MLL) gene in conjunct with deletion of the D13S319 locus on chromosome 13. CONCLUSION: Whether MLL gene rearrangement and absence of D13S319 locus has a double impact on AML should attract more attention. For AML patient with clonal abnormalities such as 13q-, del(13)(q14), -13 or der(13), FISH assay should be proof and considered to determine the size of missing fragment so as targeted therapy may be implemented.


Asunto(s)
Hibridación Fluorescente in Situ , Leucemia Mieloide Aguda , Células Cultivadas , Cromosomas Humanos Par 11/genética , Humanos , Interfase , Cariotipificación , Leucemia Mieloide Aguda/genética , Metafase , Translocación Genética
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 52-56, 2020 Jan 10.
Artículo en Chino | MEDLINE | ID: mdl-31922597

RESUMEN

OBJECTIVE: To delineate the clinical features,inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication. METHODS: Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization (FISH) were employed for the analysis of the proband and his family members. RESULTS: A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal. CONCLUSION: Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.


Asunto(s)
Anomalías Múltiples , Duplicación Cromosómica , Cromosomas Humanos Par 17 , Discapacidades del Desarrollo , Anomalías Múltiples/genética , Adulto , Preescolar , China , Cromosomas Humanos Par 17/genética , Discapacidades del Desarrollo/genética , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Proteínas Asociadas a Microtúbulos , Translocación Genética
8.
Anticancer Res ; 40(1): 97-100, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31892557

RESUMEN

BACKGROUND/AIM: Chronic expanding hematoma is defined as a hematoma that gradually expands over 1 month or longer, is without neoplastic features on histological sections, and does not occur in the setting of coagulopathy. The pathogenetic mechanism behind its development is unknown, nor is anything known about its genetic features. CASE REPORT: A 49-year-old man noted a tender lump close to the right femoral trochanter. Examination of a core needle biopsy showed a fibrous capsule with fibrinoid material on one side. The patient underwent surgery with removal of a cystic, encapsulated structure with central bleeding and proliferating vessels in the fibrous capsule. The reactive fibroblasts were without any sign of atypia. Genetic analyses were performed on this chronic expanding hematoma. RESULTS: G-Banding analysis of short-term cultured cells from the chronic expanding hematoma yielded a karyotype with a single clonal chromosome abnormality: 46,XY,t(11;19)(q13;q13)[8]/46,XY[10]. RNA sequencing and examination of the sequencing data using five different programs did not identify fusion genes related to the translocation. CONCLUSION: The acquired translocation t(11;19)(q13;q13) suggested that chronic expanding hematoma is a neoplastic lesion. Since the translocation did not lead to any fusion genes, one can speculate that it causes deregulation of gene expression.


Asunto(s)
Cromosomas Humanos Par 11 , Cromosomas Humanos Par 19 , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Hematoma/diagnóstico , Hematoma/genética , Translocación Genética , Biopsia , Bandeo Cromosómico , Enfermedad Crónica , Progresión de la Enfermedad , Humanos , Cariotipificación , Masculino , Persona de Mediana Edad
9.
Plant Dis ; 104(1): 260-268, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31644391

RESUMEN

Rye (Secale cereale L.) is an important gene donor for wheat improvement because of its many valuable traits, especially disease resistance. Development of novel wheat-rye translocations with disease resistance can contribute to transferring resistance into common wheat. In a previous study, a wheat-rye T4BL·4RL and T7AS·4RS translocation line (WR41-1) was developed by distant hybridization, and it was speculated that its resistance to powdery mildew, caused by Blumeria graminis f. sp. tritici (Bgt), was derived from rye based on pedigree analysis. To make accurate use of chromosome 4R in wheat improvement, a set of new 4R translocations involving different arm translocations (e.g., 4RS monosomic, 4RL monosomic, 4RL disomic, 4RS monosomic plus 4RL monosomic, 4RS monosomic plus 4RL disomic, and 4RS disomic plus 4RL disomic translocations) was developed from crosses with common wheat. Those translocations were characterized by genomic in situ hybridization and expressed sequence tag simple sequence repeat marker analysis. To confirm the source of powdery mildew resistance, the translocation plants were tested against Bgt isolate E09. The results indicated that all translocations with 4RL were resistant at all tested growth stages, whereas those with only 4RS translocation or no alien translocation were susceptible. This further indicated that the powdery mildew resistance of WR41-1 was derived from the alien chromosome arm 4RL. To effectively use 4RL resistance in wheat improvement, two competitive allele-specific PCR markers specific for chromosome arm 4RL were developed to detect the alien chromosome in the wheat genome. These new translocation lines with diagnostic markers can efficiently serve as important bridges for wheat improvement.


Asunto(s)
Ascomicetos , Resistencia a la Enfermedad , Secale , Triticum , Cromosomas de las Plantas/genética , Resistencia a la Enfermedad/genética , Secale/genética , Secale/microbiología , Translocación Genética , Triticum/genética , Triticum/microbiología
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(12): 1199-1202, 2019 Dec 10.
Artículo en Chino | MEDLINE | ID: mdl-31813147

RESUMEN

OBJECTIVE: To carry out genetic testing for a boy presenting with mental retardation and hypoplasia. METHODS: Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism based array (SNP-array) were used to analyze the boy and his parents. RESULTS: SNP-array has detected a 25.7 Mb microduplication at 2q33.3q36.3 in the boy. Chromosomal karyotyping and FISH analysis indicated that his mother had a karyotype of 46,XX,ish ins(11;2) (p15;q33q36), and that the boy has carried an abnormal chromosome 11 derived from the maternal translocation. The karyotype of the boy was ascertained as 46,XY,ish der(11)ins(11;2) (p15;q33q36)mat. CONCLUSION: SNP-array combined with G-banding and FISH can delineate the cryptic translocation and is valuable for the assessment of recurrence risk for subsequent pregnancies.


Asunto(s)
Hipospadias/genética , Discapacidad Intelectual/genética , Cariotipificación , Niño , Bandeo Cromosómico , Duplicación Cromosómica , Femenino , Pruebas Genéticas , Humanos , Hibridación Fluorescente in Situ , Masculino , Polimorfismo de Nucleótido Simple , Embarazo , Translocación Genética
12.
Zhonghua Bing Li Xue Za Zhi ; 48(12): 945-950, 2019 Dec 08.
Artículo en Chino | MEDLINE | ID: mdl-31818068

RESUMEN

Objective: To investigate the clinical, histologic and immunophenotypic features, genetic alterations and prognosis of the rare Xp11 neoplasm with melanocytic differentiation. Methods: Twenty-one cases were selected from the Department of Pathology, Jingling Hospital, Nanjing University School of Medicine from May 2008 to May 2018. The clinicopathologic, immunohistochemical, molecular analysis and follow-up details were collected. Results: There were 7 males and 14 females, with their ages ranging from 4 to 57 years (mean 32.8 years). The tumors were located in kidney (11 cases), pelvis (three cases), and in pancreas, retroperitoneum, adrenal gland, small intestine, prostate, cervix and appendix (one case each). Microscopically, most tumors shared similar morphology such as purely nested or sheet-like architectures separated by a delicate vascular network, purely epithelioid cells with clear to granular eosinophilic cytoplasm, lacks of papillary structures, spindle cell or fat components, uniform round to oval nuclei with small visible nucleoli, and in most of them (16/21) melanin pigment. Immunohistochemically, all cases showed moderately (2+) or strongly (3+) positive staining for TFE3 and Cathepsin K. HMB45 and Melan A were focally expressed in three of 21 cases, while the remaining cases showed typically moderate(2+) or strong (3+) expression. None of the cases were immunoreactive for SMA, desmin, CKpan, S-100 and PAX8. All cases showed TFE3 rearrangement using fluorescence in-situ hybridization (FISH). Fusion FISH assays detected SFPQ-TFE3 gene fusion in 16 cases, NONO-TFE3 gene fusion in two, ASPL-TFE3 and MED15-TFE3 gene fusions in one case each. Polymerase chain reaction and direct sequencing detected SFPQ-TFE3 gene fusion in nine cases, NONO-TFE3 and MED15-TFE3 gene fusions in one case each. Clinical follow-up was available for 15 patients for 12 to 74 months. Six patients died of the disease; and three had recurrences and/or metastases. Six patients were alive with no evidence of disease after initial resection. Conclusions: Xp11 neoplasm with melanocytic differentiation has unique morphologic, immunophenotypic and genetic characteristics. The tumor is aggressive, and should be differentiated from Xp11 translocation RCC and perivascular epithelioid cell tumor.


Asunto(s)
Cromosomas Humanos X/genética , Neoplasias/patología , Adolescente , Adulto , Diferenciación Celular , Niño , Preescolar , Femenino , Humanos , Masculino , Melanocitos/citología , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Neoplasias/genética , Translocación Genética , Adulto Joven
13.
Adv Exp Med Biol ; 1185: 197-202, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31884611

RESUMEN

Current application of next-generation sequencing (NGS) leads to detection of the underlying disease-causing gene and mutation or mutations in from 60% to 85% of patients with inherited retinal diseases (IRDs), depending on the methods used, disease type, and population tested. In a cohort of 320 families with autosomal dominant retinitis pigmentosa (adRP), we have detected the mutation in 82% of cases using a variety of methods, leaving more than 50 families with "elusive" disease genotypes. All of the remaining families have been screened for mutations in known IRD genes using retinal-targeted-capture NGS, and most have been tested by whole-exome NGS. Linkage mapping has been conducted in several large families. In one of these families, with DNA samples from ten affected family members and six unaffected, linking members, we observed substantial maximum two-point LOD scores for linkage to both chromosomes 2 and 4. Subsequent 10X Genomics Chromium™ sequencing, which facilitates linked-read, phase-known chromosomal analysis, revealed a balanced translocation of the q terminus arms of chromosomes 2 and 4 involving 35 Mb and 73 Mb of 2 and 4, respectively. The balanced translocation is present in all affected family members and absent from all unaffected individuals. Family histories suggest multiple miscarriages are associated with the translocation. The breakpoint on chromosome 4 is within or 5' to the LRAT gene, whereas the chromosome 2 break is in a gene-poor region. We conclude that the balanced translocation is the cause of adRP in this family, which may lead to dysregulation of the LRAT gene. Since multiple miscarriages are a hallmark of balanced translocations, this possibility should be considered in evaluating family histories. Further, large structural variants, which are not easily detected by conventional sequencing methods, may account for a significant fraction of the remaining unsolved families.


Asunto(s)
Retinitis Pigmentosa/genética , Translocación Genética , Aciltransferasas/genética , Cromosomas Humanos Par 2 , Cromosomas Humanos Par 4 , Análisis Mutacional de ADN , Proteínas del Ojo , Genes Dominantes , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Mutación , Linaje , Retina/patología
16.
Medicine (Baltimore) ; 98(52): e18588, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31876761

RESUMEN

RATIONALE: For the carriers of chromosome reciprocal translocation, the reason why some are fertile and others are infertile remains unclear. Here, we describe 2 patients who are carriers of chromosome 1q21 translocation with azoospermia. PATIENT CONCERNS: A 29-year-old male and a 33-year-old male presented at the clinic with a diagnosis of infertility. DIAGNOSIS: Both patients with azoospermia were diagnosed with Routine semen analysis, cytogenetic diagnosis and detection of serum reproductive hormones. The karyotype results of 2 patients were 46,XY,t(1;17)(q21;q23) and 46,XY,t(1;10)(q21;p12), respectively. INTERVENTIONS: After genetic counseling and informed consent, 1 patient (Case 2) chose microsopic testicular sperm extraction (micro-TESE). OUTCOMES: After micro-TESE, no sperm was found for the patient. Finally, both patients chose clinical treatment through artificial insemination with donor sperm. LESSONS: These outcomes suggest that breakpoint at 1q21 should be paid attention by physician in genetic counseling, may harbor some genes associated with spermatogenesis, and deserves further be studied on the function of related genes.


Asunto(s)
Cromosomas Humanos Par 1/genética , Infertilidad Masculina/genética , Espermatogénesis/genética , Translocación Genética/genética , Adulto , Humanos , Cariotipificación , Masculino
17.
Zhonghua Xue Ye Xue Za Zhi ; 40(10): 848-852, 2019 Oct 14.
Artículo en Chino | MEDLINE | ID: mdl-31775485

RESUMEN

Objective: To investigate the clinic-pathological features, diagnosis and treatment of 8p11 myeloproliferative syndrome (EMS) . Methods: Five patients diagnosed as EMS from Jan 2014 to May 2018 at Blood Disease Hospital, Chinese Academy of Medical Sciences were enrolled. The clinical manifestations, laboratory characteristics, treatment and outcome of these patients were summarized. Results: The peripheral blood leukocyte count of 5 patients with EMS increased significantly, accompanied with an elevated absolute eosinophils value (the average as 18.89×10(9)/L) . The hypercellularity of myeloid cells was common in bone marrow, always with the elevated proportion of eosinophils (the average as 17.24%) , but less than 5% of blast cells. The chromosome karyotype of the 5 cases differed from each other, but presenting with the same rearrangement of FGFR1 gene by fluorescence in situ hybridization technology. The average interval between onset and diagnosis was 4.8 months with a median survival of only 14 months. Conclusion: EMS was a rare hematologic malignancy with poor prognosis and short survival. It was commonly to be misdiagnosed. Analysis of cytogenetics and molecular biology were helpful for early diagnosis.


Asunto(s)
Eosinofilia , Neoplasias Hematológicas/genética , Enfermedades Linfáticas/genética , Trastornos Mieloproliferativos , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/genética , Cromosomas Humanos Par 8 , Eosinofilia/genética , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Trastornos Mieloproliferativos/genética , Translocación Genética
18.
No Shinkei Geka ; 47(11): 1179-1184, 2019 Nov.
Artículo en Japonés | MEDLINE | ID: mdl-31761780

RESUMEN

We report a case of rapidly progressing primary high-grade B-cell lymphoma of the central nervous system with c-Myc translocation and Bcl-2 protein expression that resulted in the patient's death 45 days after the onset of convulsions. Further, we provide a literature review. CASE:A 74-year-old man was admitted to our hospital for convulsions. Magnetic resonance imaging on admission showed tumorous lesions at the left temporoparietal junction. An open biopsy was performed promptly. The patient was diagnosed with primary high-grade B-cell lymphoma of the central nervous system with c-Myc translocation and Bcl-2 protein expression(<50%). The tumor showed rapid progression postoperatively. The patient did not respond to steroids and died 45 days after the onset of convulsions. CONCLUSION:The c-Myc translocation, showing a strong c-Myc protein positivity, and co-expression of the Bcl-2 protein were poor prognostic factors for the tumor.


Asunto(s)
Linfoma de Células B Grandes Difuso , Translocación Genética , Anciano , Biopsia , Humanos , Masculino , Proteínas Proto-Oncogénicas c-myc
19.
Rinsho Ketsueki ; 60(10): 1425-1430, 2019.
Artículo en Japonés | MEDLINE | ID: mdl-31695002

RESUMEN

A 70-year-old man was admitted to our hospital due to fever, lymphadenopathy, and leukocytosis. White blood cell count was 22,700/µl with 92% blastoid cells. Bone marrow examination revealed abnormal lymphoid cell expansion. Abnormal cells expressed surface CD5 (dim), CD10, CD19, CD20, CD23 (dim) antigens, and kappa immunoglobulin light chains. Cytogenetic analysis of bone marrow cells at the time of diagnosis showed t (11:14) (q13;q32), t (14;18) (q32;q21), and t (8;14;18) (q24;q32;q21). Fluorescence in situ hybridization analyses of bone marrow identified translocations of IGH/MYC, IGH/BCL2, and IGH/CCND1. The patient was diagnosed with aggressive B-cell lymphoma with IGH/MYC, IGH/BCL2, and IGH/CCND1 translocation and was treated with various chemotherapies including R-CHOP, R-ESHAP, DA-EPOCH-R, R-hyper-CVAD, and radiotherapy. However, the lymphoma recurred after every chemotherapy session. Finally, he died after 6 months after first admission. Double-hit lymphoma/triple-hit lymphoma has previously been reported to present with an aggressive clinical course. In the present case, co-existence of IGH/CCND1, IGH/MYC, and IGH/BCL2 is very rare. Further clinical and biological investigations are necessary to establish an optimal treatment strategy.


Asunto(s)
Linfoma de Células B/genética , Translocación Genética , Anciano , Ciclina D1/genética , Resultado Fatal , Humanos , Cadenas Pesadas de Inmunoglobulina/genética , Hibridación Fluorescente in Situ , Linfoma de Células B/tratamiento farmacológico , Masculino , Recurrencia Local de Neoplasia , Proteínas Proto-Oncogénicas c-bcl-2/genética , Proteínas Proto-Oncogénicas c-myc/genética
20.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1077-1080, 2019 Nov 10.
Artículo en Chino | MEDLINE | ID: mdl-31703129

RESUMEN

OBJECTIVE: To assess the value of detecting multiple rearrangements of MLL gene in children with acute mononuclear leukemia (AML). METHODS: Eighty six children with AML were analyzed by fluorescence in situ hybridization (FISH), chromosomal karyotyping and multiplex reverse transcription-PCR (RT-PCR). RESULTS: Cross signals were detected by FISH in 26 cases, and 30.2% were detected with MLL gene rearrangements. R-band karyotyping analysis revealed 14 translocations with breakages involving 11q23 and 5 other aberrations, which yielded an overall detection rate of 22.1%. Multiple RT-PCR has detected 12 fusion genes produced by the MLL translocation, which yielded a detection rate of 14.0%. A significant difference was found in the detection rate of the three methods (P< 0.05). CONCLUSION: Combined use of FISH, chromosomal karyotyping and multiplex RT-PCR can improve the detection of MLL gene rearrangements and provide important clues for clinical diagnosis, treatment and prognosis of AML.


Asunto(s)
N-Metiltransferasa de Histona-Lisina/genética , Leucemia Mieloide Aguda/genética , Proteína de la Leucemia Mieloide-Linfoide/genética , Niño , Cromosomas Humanos Par 11 , Reordenamiento Génico , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Translocación Genética
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