Clinicopathological analysis and literature review of Burkitt-like lymphoma with 11q aberration / 中国综合临床

Objective:To investigate the clinicopathological features,differential diagnosis,treatment and prognosis of Burkitt-like lymphoma with 11q aberration (BLL-11q).Methods:The clinical manifestations,histological morphology,immunophenotype and molecular genetic changes of 2 cases of BLL-11q admitted to the department of pathology of The First People's Hospital of Lianyungang in 2020 and 2021 were analyzed retrospectively,and the relevant literatures were reviewed.Results:Patients were found with right neck masses inadvertently and grew rapidly. They presented with localized disease with Ann Arbor stages IA and IIA. Microscopically, the normal structure of the lymph node disappeared and was replaced by a diffuse proliferation of lymphocytes, with consistent morphology and medium size. And the presence of "star-sky" phenomenon was obvious, the morphological characteristics were similar to Burkitt lymphoma. Immunophenotypically, tumor cells were diffusely positive for CD20, CD79α, PAX5, CD10 and Bcl-6, partly moderately positive for C-MYC and MUM-1, however, CD3, Bcl-2, CD30 and TDT were negative,Ki-67 positive index was more than 95%, and EBER was negative. FISH detection showed that MYC, Bcl-2, and Bcl-6 were negative. Both cases had the 11q23.3 gain and 11q24.3 loss. Both patients were treated with chemotherapy and followed up for 10-22 months,and achieved complete remission and disease-free survival.Conclusion:BLL-11q is a rare germinal center B-cell lymphoma with abnormal long arm of chromosome 11 and lack of MYC gene rearrangement. It should be distinguished from Burkitt lymphoma, diffuse large B-cell lymphoma, B-lymphoblastic lymphoma, large B-cell lymphoma with IRF4 rearrangement and high-grade B-cell lymphoma. On the basis of morphology and immunophenotype, the diagnosis depends on genetic detection. There may be a better prognosis.

Chromosome 11q13 deletion syndrome / 소아과

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

Tetralogía de Fallot asociada a duplicación distal del brazo largo del cromosoma 11 / Tetralogy of Fallot associated with distal duplication of the long arm of chromosome 11

La tetralogía de Fallot es una cardiopatía frecuente y puede representar hasta el 11 al 13% de todas las cardiopatías congénitas clínicas, se presenta en 1 de cada 8.500 nacidos vivos. En la mayoría de los casos, se asocia a una microdeleción del cromosoma 22 y con menor frecuencia al síndrome de Down. El síndrome de la dup 11q es una anomalía cromosómica causada por la duplicación de la porción distal del extremo del brazo largo del cromosoma 11, ocasionando una trisomía parcial del mismo, producto de un desbalance cromosómico, con disfunción de los genes involucrados en este material genético adicional que ocasiona anormalidades tanto físicas como mentales en un recién nacido. Se presenta el caso de un niño de 3 meses de vida que es derivado a la consulta genética por fenotipo sindromático, Tetralogía de Fallot y retraso del crecimiento. El estudio citogenético se realizó en sangre periférica, los cromosomas fueron procesados con técnicas de tinción convencional, bandas de alta resolución y centroméricas, observándose una duplicación 11q. Cariotipo: 46, XY, dup11 (q23àqter). Se enfatiza la importancia del estudio cromosómico en recién nacidos con malformaciones congénitas mayores para el diagnóstico de certeza y posterior asesoramiento genético a los progenitores.

Tetralogy of Fallot is a common heart disease and may represent up to 11 to 13% of allclinical congenital cardiopathies, it occurs in about 1 out of every 8,500 live births. Inmost cases is associated with a microdeletion of chromosome 22 and less frequently withDown syndrome. Syndrome Dup11q is a chromosomal abnormality caused by duplicationof the distal end of the long arm of chromosome 11 resulting in a partial trisomy, productof a chromosomal imbalance, with dysfunction of the genes involved in this additionalgenetic material causing both physical and mental abnormalities in a newborn. This is thecase of a 3-month boy who was referred to genetic consultation due to syndromicphenotype, Tetralogy of Fallot and growth retardation. The cytogenetic study wasperformed in peripheral blood. Chromosomes were processed with conventional stainingtechniques, centromeric and high-resolution bands, showing 11q duplication. Karyotype:46, XY, dup11 (q23qter). We emphasize the importance of chromosomal studies ininfants with major congenital malformations for a subsequent accurate diagnosis andgenetic counseling to parents.

A Case of Prenatally Diagnosed Jacobsen syndrome / 대한산부인과학회지

Jacobsen syndrome is a rare condition associated with the deletion of the long arm of chromosome 11. Though several authors reported prenatal sonographic findings of the Jacobsen syndrome, there are no common disease-specific features. The majority of affected cases were identified postnatally by chromosomal analysis of the dysmorphic or mentally retarded patients. We present a prenatal case of Jacobsen syndrome with a brief review of literature. A routine scanning in a 32-year-old primigravida at 17.3 weeks' gestation showed abnormal ultrasonographic findings consistent with increased nuchal thickening and subtle cardiac abnormalities (levorotated heart axis of greater than 60 degrees and thickened ventricular wall). The patient underwent amniocentesis, and the karyotype showed deletion of the long arm of chromosome 11, 46,XX, del (11) (q23.1q24). The fetal autopsy performed following medical termination confirmed the prenatal findings. The present case represents that the prenatal sonographic detection of the nuchal thickening and subtle cardiac abnormality should warrant a careful assessment of fetal anatomy and prompt cytogenetic analysis looking for chromosomal aberrations.

Linkage analysis between gene marker of chromosome 11q13 and total serum IgE level in sib - pairs with probands of asthmatic children / 천식및알레르기

BACKGROUND: It is known that total serum IgE levels closely corrleate with prevaience of asthma regardless of atopic status. Although heredity is reported to be important in expression of total serum IgE in twin studies, genetic factor controlling this phenotype is controversial. Objective .' To evaluate whether genetic factor in chromosome 1 1q13 may control the expression of tatal serum IgE level, linkage analysis between this phenotype and gene marker of chromosome 11q13 was investigated. MATERIAL AND METHOD: Total serum IgE level and the genotype of chromosome 11q13 with microsatellite marker (D11597) was determined in 73 probands of asthmatic chiMren and 76 their sibs. Statistical significance of linkage was evaluated by affected and quantitative trait locus (QTL) sib-pair analysis. RESULT: In 20 affected sib-pairs with total serum IgE level higher than 305 IU/ml (geometric mean plus two folds SD in 53 normal controls), two D11S97 alleles were shared by ten sib-pairs, one allele by nine sib-pairs, and no allele by one sib-pairs. Sharing rate of the alleles in affect,ed sib-pairs, was 72.5%, which indicates linkage of the phenotype and genotype (x=4. 27, p=0.03). In 35 sib-pairs with total serum IgE level higher than 170 IU/ml (geometric mean plus one fold SD in 53 normal controls), two D11S97 alleles were shared by 16 sib-pairs, one allele by 15 sib-pairs, and no allele by four sib-pairs. The shar ing rate of the alleles in affected sibpairs, was 67.1%, which indicates linkage of the phenotype and the genotype(x=4. 24, p=0.03). Difference of geometric value of total serum IgE levels between probands and their sibs wa,s smaller in 32 sib-pairs sharing two alleles than in 32 those sharing one allele and 12 those with no identical allele (0.45+0.07 vs. 0.52+0.07 vs. 0.89 +0.21). CONCLUSION: The expression of total serum IgE level was linked to gene marker of chromosome 11q13.

Linkage analysis between gene marker of chromosome 11q13, and skin reactivity to common inhalant allergens and bronchial responsiveness in sib-pairs with probands of asthmatic children / 천식및알레르기

BACKGROUND: Increased IgE antibody responses to inhalant allergens and bronchial hyperresponsiveness are important phenotypes in development of asthma. Although heredity reported to be important in expression of these phenotypes in twin and family studies, genetic factor(s) controlling these phenotypes is unknown. OBJECTIVE: To evaluate whether genetic factor in chromosome 11q13 may control the expression of IgE responses to common inhalant allergens and bronchial hyperresponsiveness, linkage analysis between these phenotypes and gene marker of chromosome 11q13 was investigated. MATERIALS AND METHODS: The phenotyping and genotyping using microsatellite marker (D11S97) were performed in 77 probands with bronchial asthma and 80 their sibs. The linkage analysis between these phenotypes and the genotype was evaluated by affected or quantitative trait locus (QTL) sib-pair analysis. RESULTS: Positive skin test responses to inhalant allergens were 55/77(71.4%) in probands and 44/79(55.6%) in sibs, respectively. Positive bronchial provocation test responses to methacholine were 27/61(44.3%) in sibs, geometric mean of PC20-methacholine were 5.2 mg/ ml in probands and 39.4 mg/ml in sibs, respectively, and slope of dose response curve(mean+- SE, %/mg/ml) were 11.3 +- 3.22 in probands and 1.97 +- 0.5 in sibs, respectively. Of 34 sib-pairs with positive skin test responses to allergens, two D11S97 alleles were shared by 21(61.8% ) sib -pairs, one allele by 11(32.3% ) sib-pairs, and no identical allele by two(5.9% ) sib-pairs. In affected sib-pairs, sharing rate of the alleles was 77.9%, which indicates linkage of the phenotype and genotype(p<0.001). Of 25 sib-pairs with bronchial hyperresponsiveness to methacholine, two D11S97 alleles were shared by seven(28%) sib-pairs, one allele by 11(44%) sib-pairs, and no identical allele by seven(28% ) sib-pairs. In affected sib-pairs, sharing rate of the alleles was 50%, which indicates no linkage between the phenotype and genotype(p) 0.05). Differences of geometric value(mean +- SE) of PC-methacholine and slope of dose response curve(mean +- SE, %/mg/ml) were 1.11+- 0.17 and 8.33+- 3.35 in sib-pairs sharing two alleles, respectively, 0.99 +- 0.14 and 14.27+-5.75 in sib-pairs sharing one allele, respectively, and 0.57+-0.13 and 3.64+-1.62 in sib-pairs sharing no allele, respectively. There was no difference of the above values among the three groups. CONCLUSION: The expression of skin reactivity to common inhalant allergens was linked to gene marker of chromosome 11q13, not with bronchial responsiveness to methacholine.