Hemihypotrophy in a girl with a translocation t(13q;7p)

A 10 year old girl with a mental age of 7–8 years, normal height and head circumference and several minor anomalies had hemiasymmetry of the entire body, the left side being uniformly smaller than the right. The smaller side was considered the abnormal side and her condition interpreted as hemihypotrophy on the basis of a chromosome abnormality which involved mosaicism, with lymphocytes showing a balanced but very unequal translocation of most of 13q transferred to 7p and both translocation chromosomes being present, and all examined fibroblasts lacking the small translocation chromosome and hence being monosomic for 13p, proximal part of 13q and a terminal portion of 7p.Supported by grants of the National Council of the Scientific and Technologic Development (CNPq/PIG) — Brazil, and by DHEW/USPHS Grant GM20 130 from the National Institute of General Medical Sciences. Contributed, in part, as paper number 1962 from the University of Wisconsin Genetics Laboratory     

Novel translocation in acute megakaryoblastic leukemia (AML-M7)

The authors report a unique translocation in a patient with M7 acute myeloid leukemia and review the literature. A 22-month-old girl without Down syndrome was diagnosed with acute myeloid leukemia, subtype M7 (AML-M7), and died with relapsed disease following bone marrow transplantation. Tumor cells were evaluated using cytogenetics (including spectral karyotyping), immunohistochemistry, and flow cytometry. The patient was found to have a previously unreported complex translocation as follows: 50,XX,der(1)t(1;5)(p36?.1;p15?.1),del(5)(p15?.1), +6,+der(6;7)(?;?),der(7)t(6;7)(?;p22)[2],der(9)t(6;9) (?;p21)t(9;14)(q34;q11.2-q13),+10,t(12;16)(p13;q24),-14[2], del(14)(q13)[2],+der(19)t(1;19)(?;p13.3),+22[cp 4]. AML-M7 in non-Down syndrome patients is a rare disease that requires improved prognostic markers.     

In vitro sensitivity to dasatinib in lymphoblasts from a patient with t(17;19)(q22;p13) gene rearrangement pre-B acute lymphoblastic leukemia

Patients with t(17;19) acute lymphoblastic leukemia (ALL) have a dismal prognosis even with the most intensive current therapies that include stem cell transplant. We present the case of a patient with t(17;19)(q22;p13) gene rearranged B-cell precursor ALL whose lymphoblasts were found to have significant in vitro sensitivity to dasatinib. The patient tolerated the addition of dasatinib with combination therapy and remained in remission for over nine months until his recurrence. Therefore, future studies will be needed to interrogate whether dasatinib has any therapeutic benefit in children with t(17;19) B-cell precursor ALL.     

A novel t(3;8)(p13;q21.1) translocation in a case of lipoblastoma

Lipoblastoma is a rare benign neoplasm of embryonic white fatty tissue primarily found in the extremities of children <3 years old (Batanian et al., Cancer Genet Cytogenet 125(1):10-13, 2001; McVay MR et al., J Pediatr Surg 41(6):1067-1071, 2006; Kamal et al., J Pediatr Surg 46(7):E9-E12, 2011). Translocations affecting the 8q11-13 region are commonly reported with lipoblastoma and proper diagnosis requires cytogenetic analysis to distinguish it from malignant myxoid liposarcoma (Miller et al., J Pediatr Surg 32(12):1771-1772, 1997; Morerio et al., Pediatr Blood Cancer 52(1):132-134, 2009). We describe an additional case of lipoblastoma containing a new translocation t(3;8)(p13;q21.1), which has not previously been reported in a healthy asymptomatic child.     

急性淋巴细胞性白血病患儿dic(8;9)(p11;q11) 染色体继发t(9;22)(q34;q11)核型异常一例

t(9;22)(q34;q11)是急性淋巴细胞性白血病(acute lymphoblastic leukemia ,ALL)中常见的原发性核型改变,其作为继发性核型异常则较少见.近来我们发现一例dic(8;9)(p11;q11)继发t(9;22)(q34;q11) 的ALL,并对其进行了间期荧光原位杂交(fluorescence in situ hybridization,FISH)的研究,证实了dic(8;9)和bcr/abl融合基因的存在.逆转录聚合酶链反应(RT-PCR)检测其基因产物为p210bcr/abl,现报告如下.     

A translocation t(5;15)(q15;q11-13) infant case with acute lymphoblastic leukemia and literature review: prognosis implications

Infant acute lymphoblastic leukemia (ALL) represents poor prognosis despite intensive chemotherapy. Rearrangements of chromosome 11q23 are not observed in 34% of the cases. Infant ALL patients with t(5;15)(p15;q11-13) are rare and sporadic. In large series of infant ALL studies, 6 patients have been reported. We present a new case of an infant ALL patient with t(5;15)(p15;q11-13), and a literature review. Considering the data provided by our case and previous reports, we reinforce that this chromosomal abnormality is characteristic of ALL patients under 12 months of age sharing break point in 5p15 and 15q11-13 and strengthen the existence of an infant ALL subgroup characterized by pre-B L1 ALL, CD10-positive, complete remission (100%), and event-free survival (71%), with a relatively good prognosis and clearly less severe than the 11q23 rearrangement cases. This abnormality can be considered a recurrent abnormality on this nosologic group.     

Congenital leukemia: successful treatment of a newborn with t(5;11)(q31;q23)

A male neonate presented with a high white cell count, an 11q23 translocation, and M5b leukemia. He was treated at 3 days of age with intensive combination chemotherapy after progressing despite exchange transfusions. The patient achieved complete remission at 28 days of age. Therapy was completed at the age of 6 months. At the time of this report, the patient is 17 months old and remains in remission. Twenty-nine patients with congenital acute myeloid leukemia were also reviewed. Twenty of these patients received varying therapies. Ten of the treated patients achieved complete remission; two died of toxicity; and eight died of progressive disease. Two patients had a translocation affecting 11q23. Congenital leukemia is a rare and usually fatal condition in patients without Down syndrome. The patient reported here shows that survival may be achieved with very intensive chemotherapy plus supportive care, despite extremely high white blood cell counts and unfavorable translocation.     

Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism

Introduction  

Low level of trisomy 13 mosaicism is a rare condition. In the present report, we describe a case of a 19-month-old boy with poor feeding, poor weight gain, mild dysmorphic features, mild muscular hypotonia, and speech delay.     

De novo translocation t(5;9)(q11.2;p22) associated with hydrops fetalis and cystic hygroma

We report on a case of a prenatally diagnosed non-immune hydrops fetalis and cystic hygroma associated with the balanced translocation t(5;9)(q11.2;p22), an association that to our knowledge has not been reported previously. Both parents had normal karyotypes. The infant was born prematurely at 33 and 3/7 weeks gestation and expired 12 h after delivery.     

Hemophagocytosis by Leukemic Megakaryoblasts in Acute Myeloid Leukemia (Megakaryoblastic) With t(1;22)(p13;q13);RBM15-MKL1

Acute megakaryoblastic leukemia is a rare variant of acute myeloid leukemia, whereby leukemic blasts display characteristic morphologic and phenotypic features indicating megakaryocytoid differentiation. A distinct entity characterized by the t(1;22)(p13;q13) translocation, resulting in the RBM15-MKL1 fusion oncogene, has been recently recognized. This is predominantly a disease afflicting infants and displays characteristic clinical features. We present a case of acute megakaryoblastic leukemia with t(1;22)(p13;q13) along with a discussion of the current understanding of the molecular biology of RBM15-MKL1. This case also displayed striking and unusual morphologic appearances including extensive hemophagocytosis by leukemic blasts, which has not been previously reported for this particular type of leukemia.     

Wilms' tumor,malformative syndrome,mental retardation and de novo constitutional translocation,t(7;13)(q36;q13)

An apparently balanced de novo constitutional translocation (7;13) (q36;q13) was detected on peripheral lymphocytes and fibroblasts of a 14-month-old boy. The patient presented a facial dysmorphism with hydrocephaly and mental retardation associated with a Wilms' tumor. A pure coincidence of random association cannot be ruled out but one can equally assert the plausibility of a minimal unnoticed deletion or a position effect.     

Hypereosinophilic syndrome in acute lymphoblastic leukemia with a chromosome translocation [t(5q;14q)]

We report a case of hypereosinophilic syndrome associated with acute lymphoblastic leukemia (L1 type, FAB classification) which showed an abnormal karyotype. An 8-year-old boy was admitted to our hospital with complaints of fever and cough that had persisted for 2 weeks. Peripheral blood examination revealed remarkable eosinophilia (120,000/mm3) and a few lymphoblasts. Bone marrow examination also revealed many mature eosinophils and 20% lymphoblasts that were PAS and peroxidase negative. A direct chromosome analysis of the bone marrow cells demonstrated that 12.5% of the spontaneously dividing cells had an abnormal karyotype of 46XY, t(5;14) (q31;q32). The chest radiogram showed interstitial pneumonia-like densities, and the ECG had the pattern of a right bundle branch block. The therapy consisted of prednisolone, high dose of methylprednisolone, cyclophosphamide, and vincristine. This treatment failed to reduce the eosinophil count. On the 4th day after admission, the patient developed severe dyspnea, complete A-V block, and died. At postmortem, dense infiltrations of eosinophils in various stages of maturation were noted in lungs and liver.     

Trisomy 4p as result of a maternal translocation t(4;8)(q11;p23)

We report on a 21 month old boy with congenital anomalies and a trisomy of the short arm of chromosome 4 as result of a maternal translocation 4/8 with meiotic 3:1 segregation. Karyotype/phenotype correlation is compared with other reported cases and discussed in a context of nearly pure trisomy 4p.