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1/126. Jumping translocations involving chromosome 1q in a patient with crohn disease and acute monocytic leukemia: a review of the literature on jumping translocations in hematological malignancies and crohn disease.

    A 36-year-old man with a 10-year history of crohn disease (CD) presented with gross hematuria and blasts in his peripheral blood. A chromosome analysis revealed one normal cell and 33 abnormal cells. The stem line was 47,XY, 8. The multiple side lines also had a jumping translocation between chromosome 1q31-32 and 4, 8, 10, 17, and 18 terminal regions. A cytogenetic, morphologic, and immunophenotypic analysis of a bone marrow aspirate and biopsy demonstrated acute myeloid leukemia of monocytic lineage, AML-M5b. In this paper are reviewed (a) the unusual and rare phenomenon of jumping translocations in hematological malignancies and (b) leukemia in CD.
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2/126. Extramedullary tumor of monoblasts in the central nervous system: presenting feature of simultaneous bone marrow involvement by acute monocytic leukemia.

    An extramedullary tumor of monoblasts in the central nervous system has been described in the literature as a single case report, preceding the development of acute monocytic leukemia by 1 year. We report a previously undescribed presentation of acute monocytic leukemia as a left temporal lobe extra-axial mass with concomitant bone marrow involvement. We describe our findings in order to heighten awareness of this entity, which may be encountered in morphologic evaluation of central nervous system masses.
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3/126. Translocation (15;17)(q22;q21) as a secondary chromosomal abnormality in a case of acute monoblastic leukemia with tetrasomy 8.

    We describe a case of acute monoblastic leukemia (AML M5a), originally presenting as granulocytic sarcoma of the testis, showing unusual cytogenetic abnormalities. tetrasomy 8 (primary) and t(15;17)(q22;q21) (secondary) were detected in bone marrow cells 6 months post-diagnosis, both by routine karyotype analysis and by fluorescence in situ hybridization (FISH) studies on metaphases and interphase nuclei. Retrospectively, the same abnormalities were identified in the primary testicular lesion using interphase FISH. However, reverse transcriptase polymerase chain reaction (RT-PCR) did not reveal the presence of a classic PML/RAR alpha fusion transcript. To the best of our knowledge, this is the first case to be reported in the literature of AML showing tetrasomy 8 in combination with secondary t(15;17).
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4/126. mycobacterium tuberculosis infection in allogeneic bone marrow transplantation patients.

    Bone marrow transplant (BMT) recipients are prone to bacterial, viral and fungal infections. mycobacterium tuberculosis infection can occur in these patients, but the incidence is lower than that of other infections. This report describes four patients with mycobacterium tuberculosis infection identified from 641 adult patients who received a BMT over a 12-year period (prevalence 0.6%). The pre-transplant diagnosis was AML in two patients and CML in the other two. Pre-transplant conditioning consisted of BU/CY in three patients and CY/TBI in one. Graft-versus-host disease (GVHD) prophylaxis was MTX/CsA in three patients and T cell depletion of the graft in one patient. Sites of infection were lung (two), spine (one) and central nervous system (one). Onset of infection ranged from 120 days to 20 months post BMT. Two patients had co-existing CMV infection. One patient had graft failure. The two patients who received anti-tuberculous (TB) therapy recovered from the infection. Although the incidence of tuberculosis in BMT patients is not as high as in patients with solid organ transplants, late diagnosis due to the slow growth of the bacterium can lead to delay in instituting anti-TB therapy. A high index of suspicion should be maintained, particularly in endemic areas.
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5/126. Acute monocytic leukemia presenting as cutaneous involvement.

    Specific cutaneous lesions appearing during acute monocytic leukemia (AMoL) are more frequent than those associated with other types of leukemia. However, skin involvement preceding the presence of leukemic cells in the peripheral blood is quite rare. In this paper, we describe a case where a 25-year-old male had multiple infiltrative erythemas and nodules on his arms. Histologically, the nodules were formed by masses of tumor cells in the dermis. Peripheral-blood tests revealed no abnormalities, but bone marrow aspiration from the sternum led to a diagnosis of AMoL. The diagnosis of specific cutaneous lesions of AMoL was confirmed by the results of cytochemical studies of bone marrow smears, and cutaneous nodules of cutaneous biopsy specimens led to early diagnosis. Complete remission was achieved with combination chemotherapy and peripheral blood stem cell transplantation. copyright (R) 2000 S. Karger AG, Basel
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6/126. Orbital and facial granulocytic sarcoma (chloroma): a case report.

    Granulocytic sarcoma is an uncommon manifestation of myelogenous leukemias in which focal masses of immature myeloid cells from the granulocytic lineage infiltrate bone and soft tissue. It is most common in the pediatric population and may present at any time in the course of the disease, either concurrently with the onset of leukemia or during a remission or relapse. Occasionally, it may precede the clinical onset of acute myelogenous leukemia (AML), presenting a diagnostic challenge.
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7/126. radiation-induced bone sarcoma following total body irradiation: role of additional radiation on localized areas.

    A 44-year-old patient who had had acute monoblastic leukemia developed an osteosarcoma of the pelvic bones 5 years after an allogeneic bone marrow transplant from his HLA-identical sister. He had additionally received superficial cutaneous radiation of the legs and pelvis, over the 3 weeks prior to total body irradiation (TBI), because of cutaneous leukemic lesions. The tumor was a fibrohistiocytomatous osteogenic sarcoma. The first lesion was in the right ilium, and a second lesion appeared 18 months later, symmetrically on the left ilium. Despite treatment, the patient died from metastases. At the time of diagnosis of radiation-induced sarcoma, the patient was free of leukemia and had several risk factors already reported to favor the development of solid tumors in stem cell recipients. These include acute leukemia, TBI and graft-versus-host disease. As he developed symmetrical lesions of the pelvic bone, and because of the histology of the radiation-induced tumor, we assumed that the additional radiation of the skin prior to TBI may have contributed to the pathogenesis of this malignant fibrous histiocytoma. Therefore, the risk/benefit ratio should be carefully considered in unusual indications. These patients should benefit from a close follow-up of the superimposed areas.
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8/126. Successful graft-versus-leukemia effect of second bone marrow transplantation on relapsed leukemia cutis that was refractory to intensive chemotherapy and donor lymphocyte transfusions in a patient with acute monocytic leukemia.

    We report a patient with acute monocytic leukemia (AMoL; M5) who received a second bone marrow transplantation (BMT) with graft-versus-leukemia (GVL) effect on relapsed leukemia cutis, which had been refractory to intensive chemotherapy and donor lymphocyte transfusions (DLTs). A 21-year-old woman was diagnosed with AMoL and achieved complete remission after intensive chemotherapy. The patient received a nonmanipulated allogeneic BMT from her HLA-identical father. skin tumors developed in her upper extremities, chest, and thigh 11 months after BMT. leukemia cutis was confirmed by skin biopsy. There was no evidence of relapse in bone marrow. The patient received several courses of chemotherapy and DLTs for the skin relapse, but the skin tumors persisted. The patient then received a second BMT from the same donor. On day 80, grade II acute graft-versus-host disease developed, and the remaining skin tumors were eradicated on day 98, most probably because of GVL effect.
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9/126. Apparently unrelated clones shown by spectral karyotyping to represent clonal evolution of cryptic t(10;11)(p13;q23) in a patient with acute monoblastic leukemia.

    The accurate genetic classification of acute leukemia is of the utmost clinical importance for treatment stratification. In the present study, we report on a young girl with aggressive acute monoblastic leukemia (AML) (M5b) with skin, lymph node, and bone marrow involvement, in whom cytogenetic analysis revealed three clones with different secondary chromosomal changes. Two clones had the secondary 8 and del(9q) aberrations, with the der(11)t(1;11) in the second one; the third clone was apparently unrelated to the others, and had add(7)(p?21),-13, 22. Using the spectral karyotyping (SKY) technique, we found that all three clones originated from a common clone that harbored the hidden primary t(10;11)(p13;q23) or its derivatives, suggesting clonal evolution. The first clone had the balanced t(10;11), the second had its derivative, der(10)t(10;11), and the third had the other derivative, der(11)t(10;11). On fluorescence in situ hybridization (FISH), MLL gene splitting, with translocation of its centromeric portion to 10p, and deletion of its telomeric portion, was demonstrated. In conclusion, the detection of the very poor prognostic t(10;11) aberration in AML, was possible by complementing the traditional cytogenetic analysis with SKY and FISH.
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10/126. Acute myeloid leukaemia with giant granules: association with t(10; 11)(p13; q14) and disseminated intravascular coagulation.

    A 16-year-old Chinese girl presented with AML-M5a. A bone marrow examination showed that the myeloblasts which were overwhelming the marrow contained giant granules (pseudo-Chediak-Higashi anomaly). Her karyotype showed a rare translocation t(10; 11)(p13; q14). Molecular delineation of the translocation breakpoints was not possible. Nonetheless, this case further demonstrates the morphological and phenotypic heterogeneity of acute leukaemia with this translocation. In this girl it was associated with disseminated intravascular coagulation.
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