Esther Rosner

B-cell lymphoma developing in the donor 9 years after donor-origin acute myeloid leukemia post bone marrow transplantation

Summary:Donor-cell leukemia post bone marrow transplantation is a rare event. Most of the cases reported to date have developed in cells from an HLA-matched sibling, who had no evidence of malignant disease before or following the occurrence of donor-origin leukemia. We describe a 17-year-old female who developed B-cell lymphoma 9 years following the occurrence of donor-origin acute myeloid leukemia in her brother for whom she had donated marrow. Cytogenetic analysis of the tumor revealed multiple chromosomal aberrations. The donor was heterozygous for the Ashkenazi mutation of Blooms syndrome, suggesting that donor-type leukemia could have resulted from genomic instability in the donor cells.

Spontaneous regression of congenital leukaemia with an 8;16 translocation

Congenital leukaemia (CL) is a rare disorder that presents with extramedullary infiltrates and a myeloid phenotype. CL can progress rapidly without adequate treatment, but, paradoxically, may also remit spontaneously. Because of the significant toxicity involved in delivering chemotherapy to newborns, it is important to identify those newborns who may not require treatment. We describe an infant who presented at 1 week of age with congenital myeloid leukaemia. Cytogenetic analysis revealed a t(8;16)(q11;p13) translocation. The infants leukaemia underwent a spontaneous regression. This case further confirms the possibility of spontaneous remission in congenital leukaemia. Moreover, it suggests that the presence of a clonal cytogenetic aberration does not preclude the possibility of a spontaneous regression in CL.

Hexasomy of chromosome 8 and trisomy of chromosome 11 characterize two karyotypically independent clones in a case of acute non-lymphocytic leukemia: Conventional cytogenetic and FISH investigation☆

A case of ANLL following a myelodysplastic syndrome, probably resulting from occupational exposure to ionizing irradiation, with two cytogenetically unrelated clones, hexasomy 8 and trisomy 11, was investigated by conventional cytogenetics and FISH. Significant quantitative differences between data obtained by metaphase and interphase analysis of the hexasomy 8 clone were observed. A difference in the sensitivity to chemotherapy of the two clones was found: while the hexasomy 8 clone markedly decreased in response to treatment, the trisomy 11 clone remained unchanged.

In vitro proliferative advantage of bone marrow cells with tetrasomy 8 in Ewing sarcoma

We describe a case of a 14.5-year-old boy with a clinically aggressive pelvic Ewing sarcoma. The tumor cells showed the presence of a typical t(11;22)(q24;q12) aberration and gains of chromosomes 8, 10, 14, and 21. To determine the size of the trisomy and tetrasomy 8 clones an interphase analysis by fluorescence in situ hybridization with a centromere-specific chromosome 8 probe was performed. Significant quantitative differences between metaphase and interphase data were obtained. It was shown that culturing of bone marrow cells leads to enrichment of tetrasomy 8 population that may be explained by the proliferative advantage of the tetrasomy 8 cells.

Preferred usage of specific immunoglobulin gene segments in chronic lymphocytic leukaemia cells of three HLA-identical sisters.

Summary. We report three family members, including a set of identical twins, who developed CD5 positive B‐CLL. The patients are female Ashkenazi Jews sharing an identical HLA phenotype. Two of the HLA loci (B35 and Cw4) were common with those already described as being shared by Ashkenazi Jews with an increased incidence of CLL. The rearranged immunoglobulin genes of the malignant cells of all three patients were found to express genetically related VH regions belonging to the VH3 subgroup, and chromosomal studies suggest a process of clonal evolution in one of the twins.

Chromosomal translocation (1:13) in a case of alveolar rhabdomyosarcoma.

PURPOSE To describe a patient with a variant translocation (1;13)(p36;q14) in an alveolar rhabdomyosarcoma and compare the clinical course with four other cases. PATIENTS AND METHODS A 10-year-old girl presented with multiple masses involving the thigh, abdomen, chest wall, and scalp with pleural effusion and edema of the lower extremities. RESULTS A bone marrow biopsy, aspirate, and biopsy of the thigh mass all showed tumor invasion. Histopathology and cytogenetics of the thigh mass revealed an alveolar rhabdomyosarcoma with a t(1;13)(p36q14) variant. There was no response to aggressive therapy and the patient died within 3 weeks of admission. CONCLUSION Variant t(1;13)(p36;q14) has now been described in 5 cases of rhabdomyosarcoma, and may define a subset of patients with extensive disease at diagnosis unresponsive to current therapeutic modalities.

Translocation (2;14)(p13;q32) in CD10+;CD13+ acute lymphatic leukemia

The rare t(2;14)(p13;q32) was previously described in the three pediatric patients with acute lymphatic leukemia. In these cases this abnormality was found at diagnosis, manifested the sole chromosomal abnormality, and was associated with a favorable prognosis. We here describe three cases of leukemia where such translocations were found at relapse, were associated in two of the cases with additional known characteristic chromosomal aberration, and were associated with a grave prognosis. Interestingly enough, the malignant cells of all three patients shared the same surface antigens: CD34, HLA DR, CD10, CD20, and the myeloid marker CD13. The leukemic clone exhibiting t(2;14) probably evolved from a t(1;19)6q- pre-B acute lymphatic leukemia in one of the cases, and from a chronic phase Ph1 chromosome in another. The significance of the translocation and the coexistence of CD10 and CD13 on the same cell are discussed.

Translocation t(3;17)(q23;q21): a new translocation in acute lymphoblastic leukaemia

We report on two adult patients with CD10+ positive acute lymphoblastic leukaemia (ALL) who presented with similar clinical and laboratory features and with a new chromosomal translocation: t(3;17)(q23;q21). This translocation may be involved in the formation of a new chimaeric transcription factor. Both patients shared several poor prognostic factors at presentation and an adverse clinical course. The t(3;17)(q23;q21) translocation may therefore predict a poor outcome in ALL.

Post-essential thrombocythemia myelofibrosis and chronic myelomonocytic leukemia can co-exist with complex cytogenetic abnormalities.

Cytogenetic abnormalities are detected in approximately 50% of atients with post-essential thrombocythemia myelofibrosis (postTMF) or post-polycythemia vera myelofibrosis (post-PVMF). ytogenetic abnormalities in these diseases are associated with sigificantly different survival outcomes. Isolated deletion 13q or 20q as favorable outcome similar to the presence of normal karyotype, hereas other cytogenetic abnormalities are unfavorable. [1–4]. lonal chromosomal evolution is frequently observed in post-PVMF nd less frequently in post-ETMF. Chronic myelomonocytic leukemia (CMML) is a rare disease. ccording to the new WHO classification, CMML is a myelodyslastic/myeloproliferative disorder (MDS/MPD) [5]. Furthermore, MML is divided into 2 prognostic categories, CMML-1 when ewer than 5% blasts are present in the peripheral blood (PB) nd less than 10% in the bone marrow (BM) or CMML-2 when % or more of blasts are present in the PB or 10% or more in the M. CMML can occur de novo, following chemotherapy or after mmunosuppressive drugs [6]. Here we present an unusual course of a patient who has postTMF and CMML for the last seven years. The clinical course of the ombined two hematological diseases, each one by itself being an ndication for stem cell transplantation, is presented along with the omplex cytogenetic abnormalities.

Translocation (3;21) in Philadelphia-Positive Cml Blast Crisis in a Boy with Severe Skeletal Changes

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