Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report.

Non-Down-syndrome-related acute megakaryoblastic leukemia (non-DS-AMKL) is a rare form of leukemia that can present with a variety of initial symptoms, including fever, rash, bruising, bleeding, or other more clinically challenging symptoms. Herein, we describe a 19-month-old female patient who presented with left lower extremity pain and language regression who was diagnosed with AMKL, not otherwise specified (NOS), on the basis of peripheral blood and bone marrow analysis, as well as cytogenetic and molecular diagnostic phenotyping. Of note, in addition to this patient's karyotype showing trisomy 3, a fusion between CBFA2T3 (core-binding factor, alpha subunit 2, translocated to, 3) on chromosome 16 and GLIS2 (GLIS family zinc finger protein 2), also on chromosome 16, was observed. Patients with AMKL who have trisomy 3 with CBFA2T3::GLIS2 fusions are rare, and it is not known if the co-occurrence of these abnormalities is coincidental or biologically related. This highlights the continued need for further expansion of genetic testing in individuals with rare disease to establish the groundwork for identifying additional commonalities that could potentially be used to identify therapeutic targets or improve prognostication.

[Marginal zone lymphoma-like primary bone marrow lymphoma with long-term pancytopenia preceding diagnosis].

A 45-year-old man initially diagnosed with aplastic anemia had been receiving treatment for >4 years when he visited our hospital for a detailed examination. On admission, bone marrow (BM) aspiration showed erythroid dysplasia and chromosomal abnormalities, including trisomy 3 in 1/20 cells. After 3 months of observation, BM aspiration showed the involvement of 5% abnormal lymphocytes, and flow cytometry revealed a monoclonal B-cell phenotype. After a further 5 months of observation, his blood test showed a sudden elevation in white blood cell (WBC) count and the presence of villous lymphocytes. Fluorodeoxyglucose-positron emission tomography (FDG-PET) only revealed strong uptake by systemic BM, and BM aspiration showed the involvement of 76.4% abnormal lymphocytes, which were positive for CD19 and dim CD11c; negative for CD25, CD103, cyclin D1, and BRAF-V600E; and exhibited light chain restriction. The patient was diagnosed with marginal zone lymphoma-like primary bone marrow (BM) lymphoma. Treatment with R-CHOP and R-cladribine failed. He then underwent an allogeneic peripheral blood stem cell transplantation from a human leucocyte antigen (HLA)-identical sibling, and he has since remained in good health and without relapse for 9 years. Further clinical and biological analyses are necessary to establish an optimal treatment strategy for this disease.

Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case.

Trisomy 3 mosaicism in live birth is exceedingly rare. In this study, we report a 5-year-old boy with trisomy 3 mosaicism who exhibits skeletal anomalies, atypical form of ectodermal dysplasias, refractory diarrhea, and normal intelligence. Fluorescence in situ hybridization and microsatellite marker analyses confirmed the existence of trisomy 3 mosaicism and suggested that the parental origin of the additional chromosome 3 in the trisomic cells was maternal. This report further delineated the trisomy 3 mosaicism in live births. The authors propose that both common phenotypes and phenotypic diversity exist on cases with trisomy 3 mosaicism. © 2016 Wiley Periodicals, Inc.

Trisomy 3, a sole recurrent cytogenetic abnormality in pediatric polymorphic post-transplant lymphoproliferative disorder (PTLD).

Trisomy 3 has been previously reported in association with T-cell lymphomas and less commonly in different types of non-Hodgkin B-cell lymphomas. Trisomy 3 has also been reported in two cases of pediatric post-transplant lymphoproliferative disorder (PTLD). We present comprehensive clinicopathologic review of two pediatric patients with cardiac and liver/intestinal allografts that developed polymorphic PTLD characterized by trisomy 3. Both patients had Epstein-Barr virus (EBV) viremia and EBV was positive in tissue by EBER in situ hybridization. Using karyotype analysis and fluorescence in situ hybridization, we identified trisomy 3 in both patients. Both patients responded to treatment and are now free of the PTLD. Trisomy 3, an uncommon cytogenetic finding in pediatric polymorphic PTLD, may be a recurrent cytogenetic aberration if confirmed in a larger study of pediatric PTLDs. Further clinical follow up might help stratify significance of trisomy 3 as a prognostic factor.

A rare chromosomal disorder in a newborn: Trisomy 3q.

Kahvecioglu D, Tatar-Aksoy H, Yildiz E, Bakir A, Alioglu B. A rare chromosomal disorder in a newborn: Trisomy 3q. Turk J Pediatr 2019; 61: 271-274. Trisomy 3q is a rare chromosomal disorder that leads to multiple congenital abnormalities. We hereby present a patient with chromosomal karyotype 46, XY, dup (3)(q23-29), which can be classified as pure 3q duplication and has thin sclera and iris dysgenesis, anterior and posterior segment dysgenesis besides the previously identified specific facial features. To the best of our knowledge only 12 cases have been reported with pure duplication in the literature. Our case is the 13th one reported and has noval findings concerning eye involvement. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of genes which are responsible for eye development in this chromosomal region.

A case of a pulmonary mucosa-associated lymphoid tissue lymphoma with chromosomal aberration (49, XX, +3, +i(6)(p10), +mar).

We report a case of a primary pulmonary mucosa-associated lymphoid tissue (MALT) lymphoma with chromosomal aberration (49, XX, +3, +i(6)(p10), +mar). A 59-year-old woman was referred to our hospital for an abnormal chest shadow detected during a routine health check-up in 2014. Chest computed tomography revealed a 3.2- × 2.3- × 2.0-cm tumour shadow in the right middle lobe. Transbronchial biopsy did not result in the diagnosis of the tumour. Accordingly, as the tumour could have been malignant, right middle lobectomy was performed via video-assisted thoracic surgery. On the basis of the results of immunohistochemical staining and gene analysis, the tumour was diagnosed as a primary pulmonary MALT lymphoma with chromosomal aberration (49, XX, +3, +i(6)(p10), +mar).

Trisomy 3 as an acquired cytogenetic abnormality in primary acute megakaryoblastic leukemia.

Acute myeloid leukemia has a rare subtype in French-American-British classification as M7 or acute megakaryoblastic leukemia. Chromosome abnormalities in cases with acute megakaryoblastic leukemia can affect their prognosis. Evaluation of these abnormalities and their impact are not fully elucidated. This case presentation is about 16 months female who has a rare abnormality (trisomy 3) alongside acute megakaryoblastic leukemia. The remarkable point is that her malignancy is as primary or non-Down syndrome acute megakaryoblastic leukemia. The author's suggestion through this case presentation is the necessity of drawing a cytogenetic profile, especially in cases with acute megakaryoblastic leukemia for better treatment strategies.

A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.

Constitutional mosaicism for trisomy 3 is extremely rare, with only a few postnatally diagnosed cases reported in the literature. We report a case of constitutional trisomy 3 mosaicism in a 16-year-old female, who presented with chronic joint pain, easy bruising, joint hypermobility and dysmorphic features, including long, thin facies, over-folded dysplastic ears, and Pierre-Robin sequence (PRS) with cleft palate. The patient was small at birth, had cleft palate repair, developed chronic joint pain at age 12, and has a history of mild leukopenia and mild thrombocytopenia. Microarray analysis was consistent with a mosaic gain of an entire chromosome 3. FISH analysis of peripheral blood and buccal cells showed the presence of the supernumerary chromosome 3 in a low percentage of cells in both tissues, suggesting that the nondisjunction event occurred prior to the germ cell layer differentiation. Since trisomy 3 has been observed somatically in lymphoma, a Hematology/Oncology consultation was provided for the patient. The oncologist's evaluation for malignancy was unremarkable. A review of findings from other trisomy 3 patients reported in the literature reveals a diverse phenotypic spectrum and does not show a correlation between the proportion of abnormal cells observed in peripheral blood and the patients' clinical features or severity. This case demonstrates that the clinical presentation of an individual with trisomy 3 is highly individualized and the clinical course is difficult to predict.

A case of partial trisomy 3p syndrome with rare clinical manifestations.

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype.

Trisomy 3q is a very rarely reported chromosomal disorder. Duplication of part of the long arm of human chromosome 3 causes a distinct and severe syndrome that leads to multiple congenital abnormalities. A 27 year-old pregnant woman was admitted to our clinic at 17 weeks of gestation. Prenatal sonography identified a fetus with an omphalocele that contained the liver and bowel, mild ventriculomegaly and polyhydramnios. Amniocentesis revealed the karyotype of 46, XY, der (3) (3qter→3q21: : 3pter→3qter). The pregnancy was subsequently terminated. Postnatally, the proband showed midfacial hypoplasia, micrognathia, hypoplastic 12th ribs, omphalocele and prominent heels. We reported this partial trisomy 3q case because he had less marked malformations compared to other reported cases and also different features such as an omphalocele and hypoplastic 12th rib which have not been described previously in an isolated Trisomy 3q case with this karyotype.

A case of partial trisomy 3p syndrome with rare clinical manifestations / 소아과

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

A case of partial trisomy 3p syndrome with rare clinical manifestations / 소아과

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

Prenatal diagnosis of partial trisomy 3q with omphalocele in the first trimester of pregnancy / 대한산부인과학회지

Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 3q usually demonstrates characteristic facial appearance, developmental delay, brain and ocular anomalies, severe growth retardation, congenital heart disease, renal and genitourinary malformations, omphalocele, and skeletal and limb anomalies with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 3q in Korea. We present the case of partial trisomy 3q with omphalocele from maternal balanced translocation, which was prenatally diagnosed by chorionic villi sampling based on abnormal ultrasonographic findings.