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We report the case of a 72-year-old man who had the very rare disease acute basophilic leukemia with the sole chromosomal finding of a monosomy 7. Most nuclear cells in the peripheral blood and bone marrow samples were either basophils or blasts. The blasts showed negative reaction with myeloperoxidase, periodic acid Schiff, chloroacetate esterase, alpha-naphthyl butyrate esterase, acid phosphatase, and Sudan black B. Metachromatic features of the blasts, however, were observed with toluidine blue stain. Electron microscopic evaluation showed the typical ultrastructure, with basophil and immature mast cell granules. Cytogenetic study revealed monosomy 7 in all metaphase cells, and this finding was confirmed by fluorescence in situ hybridization. The Philadelphia chromosome was absent. Review of the literature revealed abnormalities in cases of ABL. To our knowledge, the case reported here is the first to have basophilic leukemia with monosomy 7 as the only chromosome abnormality. 相似文献
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A 49-year-old man, who had been diagnosed with chronic lymphocytic leukemia (CLL) in 2002, had a normal karyotype in his bone marrow. Trisomy 8 was demonstrated in his peripheral blood in 2005. Fluorescence in situ hybridization using an LSI CEP 8 probe performed on the archival bone marrow specimen showed three hybridization signals in 40% of 200 interphase cells scored. This confirmed that the trisomy 8 abnormality was present in both the blood and bone marrow samples. Trisomy 8 as the sole chromosomal abnormality in CLL is a very rare finding. The prognostic significance of trisomy 8 in CLL remains to be seen. 相似文献
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T-cell blast crisis of chronic myelogenous leukemia manifesting as a large mediastinal tumor 总被引:1,自引:0,他引:1
Ye CC Echeverri C Anderson JE Smith JL Glassman A Gulley ML Claxton D Craig FE 《Human pathology》2002,33(7):770-773
We report an unusual case of T-cell blast crisis of chronic myelogenous leukemia (CML) with a clinical presentation more typical of de novo T-cell lymphoblastic lymphoma. The patient was a 32-year-old man who presented with acute superior vena cava syndrome 19 months after an initial diagnosis of CML and 5 months after allogeneic bone marrow transplantation. The tumor was composed of primitive lymphoid cells expressing CD2, CD3, CD4, CD5, CD7, CD8, and CD10. Although the clinical features were more typical of acute lymphoblastic leukemia/lymphoma, fluorescence in situ hybridization analysis showed the bcr-abl fusion gene within blastic tumor cells. This finding confirmed that the mass represented a blastic transformation of CML. We use the unusual features of the current case and the previous reports to suggest that the development of T-cell blast crisis of CML is dependent on the presence of both marrow and extramedullary disease and a mechanism to evade apoptosis. 相似文献
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Chronic myelogenous leukemia with blast crisis is seen in 15% to 20% of patients with chronic myelogenous leukemia. Chronic myelogenous leukemia with either erythroid or megakaryocytic blast crisis is not uncommon in the clinical setting. The incidence ranges from 0% to 33% in accordance with literature reports. The diagnosis of erythroid or megakaryocytic blast phase is often challenging because the percentage of blasts in the blood or bone marrow required for diagnosis has not been firmly established. Also, some myeloblasts can have aberrant expression of either erythroid or megakaryocytic markers by flow cytometry during clonal evolution. Early recognition of this entity is crucial because either megakaryocytic or erythroid blast crisis predicts an aggressive clinical course. To our knowledge, the coexistence of megakaryocytic and erythroid blasts has not been reported. We report a unique case of chronic myelogenous leukemia with this rare bilineage blast crisis in the background of dysplasia and marked myelofibrosis. Related literature is also reviewed. 相似文献
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T Odagaki T Sugimoto M Matsuo E Tatsumi K Saigo 《Cancer Genetics and Cytogenetics》2001,128(2):158-160
Peripheral blood and bone marrow analysis of a 79-year-old female led to a diagnosis of acute myeloblastic leukemia with differentiation (AML-M2). Chromosome analysis of the unstimulated bone marrow cells revealed 48, XX,+21,+21, and tetrasomy 21 was the sole cytogenetic abnormality in this constitutionally normal female patient. 相似文献
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Sandoval C Mayer SP Ozkaynak MF Tugal O Jayabose S 《Cancer Genetics and Cytogenetics》2000,118(1):69-71
We describe a case of pediatric acute lymphoblastic leukemia (ALL) with trisomy 5 as a sole cytogenetic abnormality. A comparison is made with the two cases of adult acute lymphoblastic leukemia with trisomy 5 in the literature. This rare cytogenetic abnormality may portend an especially poor prognosis in patients with ALL. 相似文献
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We report a case of acute myeloid leukemia with tetrasomy 21 as the sole chromosome abnormality in a constitutionally normal patient. Tetrasomy 21 was observed at presentation, disappeared in remission, but reappeared in recurrence of the disease. Fluorescence in situ hybridization analysis using a probe specific for the AML1 gene showed four distinct signals in 82.4% and three signals in 10.8% of interphase nuclei, although conventional G-banding revealed tetrasomy 21 alone in mosaicism with normal karyotype. Spectral karyotyping further confirmed the presence of extra copies of chromosome 21. Tetrasomy 21 as the only anomaly is relatively rare in patients with hematologic disorders other than Down syndrome, and to our knowledge has been reported previously in only seven cases. In a review of the literature, tetrasomy 21 as the only anomaly may be associated with myeloid disorders, although simultaneous numeric abnormalities other than chromosome 21 have been reported in acute lymphoblastic leukemia with hyperdiploid karyotype. 相似文献
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Trisomy/ tetrasomy of chromosome 8 and +i(8q) as the sole chromosome abnormality in three adult patients with myelomonocytic leukemia 总被引:4,自引:0,他引:4
Ferro MT Vázquez-Mazariego Y Ramiro S Santiago MF García-Sagredo JM Nuñez R Hernández JM San Roman C 《Cancer Genetics and Cytogenetics》2000,120(2):163-165
We report three cases of tetrasomy 8 associated with myeloid disease. Two patients had chronic myelomonocytic leukemia (CMMoL) and the other had acute monocytic leukemia (AML M5 FAB). Two patients had trisomy/tetrasomy chromosome 8 as the sole abnormality. The other patient with CMMoL had two normal 8 chromosomes plus one isochromosome 8q; this is the first case of long arm chromosome 8 tetrasomy without short arm 8 monosomy. This cytogenetic finding suggests the importance of the genes located in the long arms of chromosome 8. 相似文献
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Manola KN Georgakakos VN Marinakis T Stavropoulou C Paterakis G Anagnostopoulos NI Pantelias GE Sambani C 《Cancer Genetics and Cytogenetics》2007,173(2):159-163
A reciprocal t(X;12)(p11;p13) was found as the sole clonal abnormality in biphenotypic leukemia with myeloid and B-lymphoid differentiation. With fluorescence in situ hybridization analysis, the ETV6 gene (previously TEL) was found to be translocated intact to the derivative X chromosome; no MLL and BCR/ABL rearrangements were found. The patient achieved complete remission after induction chemotherapy. To our knowledge, this cytogenetic aberration has not been reported previously as a sole abnormality in hematological malignancies. Its presence may suggest an important role in the pathogenesis of biphenotypic leukemia. 相似文献
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Druker BJ Sawyers CL Kantarjian H Resta DJ Reese SF Ford JM Capdeville R Talpaz M 《The New England journal of medicine》2001,344(14):1038-1042
BACKGROUND: BCR-ABL, a constitutively activated tyrosine kinase, is the product of the Philadelphia chromosome. This enzyme is present in virtually all cases of chronic myeloid leukemia (CML) throughout the course of the disease, and in 20 percent of cases of acute lymphoblastic leukemia (ALL). On the basis of the substantial activity of the inhibitor in patients in the chronic phase, we evaluated STI571 (formerly known as CGP 57148B), a specific inhibitor of the BCR-ABL tyrosine kinase, in patients who had CML in blast crisis and in patients with ALL who had the Ph chromosome. METHODS: In this dose-escalating pilot study, 58 patients were treated with STI571; 38 patients had a myeloid blast crisis and 20 had ALL or a lymphoid blast crisis. Treatment was given orally at daily doses ranging from 300 to 1000 mg. RESULTS: Responses occurred in 21 of 38 patients (55 percent) with a myeloid-blast-crisis phenotype; 4 of these 21 patients had a complete hematologic response. Of 20 patients with a lymphoid blast crisis or ALL, 14 (70 percent) had a response, including 4 who had complete responses. Seven patients with a myeloid blast crisis continue to receive treatment and remain in remission from 101 to 349 days after starting the treatment. All but one patient with a lymphoid blast crisis or ALL has relapsed. The most frequent adverse effects were nausea, vomiting, edema, thrombocytopenia, and neutropenia. CONCLUSIONS: The BCR-ABL tyrosine kinase inhibitor STI571 is well tolerated and has substantial activity in the blast crises of CML and in Ph-positive ALL. 相似文献
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Maria Valeria Migliori Valentino Cherubini Edoardo Bartolotta Antonella Pettinari Rolando Pecora 《American journal of medical genetics. Part A》1994,49(1):108-110
We report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either short or long arm of chromosome 5 as consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. © 1994 Wiley-Liss, Inc. 相似文献
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Acquired clonal chromosome X aberrations, whether numerical or structural, as the sole chromosomal anomaly in acute myeloid leukemia (AML) are very uncommon. The scarcity of nonconstitutional chromosome X aberrations detected in AML has prevented any meaningful evaluation of their prognostic significance. In this report, we describe the case of a patient with AML who had the unusual acquired karyotype of 45,X/-X,46,X,i(X)(q10) on presentation and 45,X,-X,add(19)(p13.3) on relapse. We also briefly review the literature on acquired numerical and structural chromosome X aberrations as the sole chromosomal anomaly in AML. This case adds to the sparse body of literature regarding chromosome X aberrations in AML. More case reports are needed to further elucidate the importance of such aberrations. 相似文献
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Xin Qing Annie Qing Ping Ji Samuel W. French Holli Mason 《Experimental and molecular pathology》2018,104(2):130-133
Background
Chronic myelogenous leukemia (CML) is a myeloproliferative disorder characterized by the Philadelphia (Ph) chromosome generated by the reciprocal translocation t(9,22)(q34;q11). The natural progression of the disease follows a biphasic or triphasic course. Most cases of CML are diagnosed in the chronic phase. Extramedullary blast crisis rarely occurs during the course of CML, and is extremely rare as the initial presentation of CML.Case presentation
Here, we report the case of a 32-year-old female with enlarged neck lymph nodes and fatigue. She was diagnosed with B-lymphoblastic leukemia/lymphoma with possible mixed phenotype (B/myeloid) by right neck lymph node biopsy at an outside hospital. However, review of her peripheral blood smear and her bone marrow aspirate and biopsy showed features consistent with CML, which was confirmed by PCR and karyotyping. An ultrasound-guided right cervical lymph node core biopsy showed a diffuse infiltrate of blasts, near totally replacing the normal lymph node tissue, admixed with some hematopoietic cells including megakaryocytes, erythroid precursors and maturing myeloid cells. By flow cytometry and immunohistochemistry, the blasts expressed CD2, cytoplasmic CD3, CD5, CD7, CD56, TdT, CD10 (weak, subset), CD19 (subset), CD79a, PAX-5 (subset), CD34, CD38, CD117 (subset), HLA-DR (subset), CD11b, CD13 (subset), CD33 (subset), and weak cytoplasmic myeloperoxidase, without co-expression of surface CD3, CD4, CD8, CD20, CD22, CD14, CD15, CD16 and CD64, consistent with blasts with mixed phenotype (T/B/myeloid). A diagnosis of extramedullary blast crisis of CML was made. Chromosomal analysis performed on the lymph node biopsy tissue revealed multiple numerical and structural abnormalities including the Ph chromosome (46–49,XX,add(1)(p34),add(3)(p25),add(5)(q13),-6,t(9;22)(q34;q11.2),+10,-15,add(17)(p11.2),+19, +der(22)t(9;22),+mar[cp8]). After completion of one cycle of combined chemotherapy plus dasatinib treatment, she was transferred to City of Hope National Cancer Institute for bone marrow transplantation.Discussion and conclusion
Diagnosis of extramedullary blast crisis should be suspected in patients with leukocytosis and extramedullary blast proliferation. In this case study, we diagnosed extramedullary blast crisis accompanied by chronic phase of CML in the bone marrow. To our knowledge, this is the first reported case of extramedullary blast crisis as the initial presentation of CML with T/B/myeloid mixed phenotype. Other unusual features associated with this case are also discussed. 相似文献20.
An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q arms of the X chromosome. Twenty retarded males and no retarded females were observed. All available live retarded males and most of their normal mothers were found to have the abnormal X chromosome. The marker chromosome was shown to be the X chromosome in each case by Giemsa banding. In affected male and female carriers the marker chromosome varied in appearance and was not present in all metaphases. The significance of this study in relation to previously reported pedigrees showing non-specific X-linked mental retardation is discussed. 相似文献