Search Our Scientific Publications & Authors

Am J Clin Pathol 2016 Apr 25;145(4):459-66. Epub 2016 Mar 25.

From the Departments of Laboratory Medicine and Pathology

Objectives: Isolated deletion (20q) is relatively common in myeloid neoplasms and has been rarely reported in cases of therapy-related myelodysplastic syndrome (MDS). Our aim was to characterize cases of isolated del(20q) in bone marrow biopsy specimens from patients with a history of chemotherapy with morphologic findings insufficient for a diagnosis of MDS.

Methods: In this retrospective study from one institution, we identified 22 patients with isolated del(20q) and no or minimal dysplasia and evaluated clinical and pathologic characteristics. Read More

Am J Hematol 2016 Feb;91(2):227-32

Department of Leukemia, University of Texas M.D. Anderson Cancer Center, Houston, Texas.

Acute myeloid leukemia (AML) is defined as ≥20% myeloblasts, representing a change from original guidelines where ≤30% blasts were considered as myelodysplastic syndromes (MDS), and 20-29% blasts classified as refractory anemia with excess blasts in transformation (RAEB-T). Whether the diagnostic bone marrow blast percentage has current value with regards to patient prognostication or identification of optimal treatment strategies is unclear. We retrospectively studied 1652 treatment-naïve adults with MDS or AML and ≥10% blasts from January 2000 to April 2014. Read More

J Clin Oncol 2015 Nov 24;33(31):3641-9. Epub 2015 Aug 24.

Lene Sofie Granfeldt Østgård, Mette Nørgaard, Eigil Kjeldsen, and Jan Maxwell Nørgaard, Aarhus University Hospital, Aarhus; Henrik Sengeløv, Mette Klarskov Andersen, and Lone Smidstrup Friis, The University Hospital Rigshospitalet, Copenhagen; Inge Høgh Dufva, Herlev University Hospital, Herlev; Claus Werenberg Marcher and Birgitte Preiss, Odense University Hospital, Odense; Marianne Severinsen, Aalborg University Hospital, Aalborg, Denmark; and Bruno C. Medeiros, Stanford University School of Medicine, Stanford, CA.

Purpose: Secondary and therapy-related acute myeloid leukemia (sAML and tAML, respectively) remain therapeutic challenges. Still, it is unclear whether their inferior outcome compared with de novo acute myeloid leukemia (AML) varies as a result of previous hematologic disease or can be explained by differences in karyotype and/or age.

Patients And Methods: In a Danish national population-based study of 3,055 unselected patients with AML diagnosed from 2000 to 2013, we compared the frequencies and characteristics of tAML, myelodysplastic syndrome (MDS) -sAML, and non-MDS-sAML (chronic myelomonocytic leukemia and myeloproliferative neoplasia) versus de novo AML. Read More

Leukemia 2016 Jan 15;30(1):242-7. Epub 2015 May 15.

Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2014 Dec;22(6):1757-60

Department of Hematology, Tianjin Medical University Cancer Institue and Hospital, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin 300060, China. E-mail:

Therapy-related myelodysplasia syndromes/acute myeloid leukemia (t-MDS/AML) is a clinical syndrome occurring as a late complication after chemotherapy and (or) radiotherapy, attracting much more attention owing to the improved treatment agents and longer survival of many treated patients. According to the WHO classification of 2008, t-MDS/AML is a serious complication of chemotherapy or radiotherapy given to a malignant or nonmalignant condition consisting of t-AML, t-MDS and t-MDS/myeloproliferative diseases (t-MDS/MPD). This review mainly focuses on the pathogenesis, relationship with primary tumour, treatment and prognosis of t-MDS/AML. Read More

Best Pract Res Clin Haematol 2014 Jun 19;27(2):141-53. Epub 2014 Jul 19.

Department of Medicine, Division of Hematology, Karolinska University Hospital Solna, Karolinska Institutet, SE-171 76 Stockholm, Sweden. Electronic address:

Polycythemia vera, essential thrombocythemia, and primary myleofibrosis are chronic myeloproliferative neoplasms (MPNs) associated with an increased morbidity and mortality. MPNs are also associated with progression to acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). The "true" rate of transformation is not known mainly due to selection bias in clinical trials and underreporting in population-based studies. Read More

Leuk Res 2014 Oct 11;38(10):1162-4. Epub 2014 Aug 11.

Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, United States.

Int J Clin Exp Pathol 2014 15;7(7):3512-23. Epub 2014 Jun 15.

Department of Hematopathology, The University of Texas MD Anderson Cancer Center Houston, Texas.

Hematological neoplasms developed in patients with a history of cytotoxic therapies comprise a group of diseases with a poor clinical outcome, and collectively categorized as "therapy-related myeloid neoplasms" (t-MN) in the 2008 World Health Organization (WHO) Classification. In recent years, numerous publications have emerged, and these studies have greatly expanded the scope of our understanding in this field. We here focused our review on several selected areas including secondary malignancies occurring in patients with autoimmune diseases; radiation therapy alone as a causative agent; the similarity and differences between therapy-related myelodysplastic syndromes (t-MDS) and acute myeloid leukemia (t-AML); clinical behavior and treatment outcome of t-AML patients with favorable cytogenetics; the incidence and clinical features of myelodysplastic/myeloproliferative neoplasms, as well as acute lymphoblastic leukemia and myeloproliferative neoplasms in patients with prior cytotoxic exposure. Read More

Biol Blood Marrow Transplant 2014 Jun 7;20(6):837-43. Epub 2014 Mar 7.

Division of Blood and Marrow Transplantation, Stanford University, Stanford, California. Electronic address:

Allogeneic hematopoietic cell transplantation (allo HCT) is the only curative therapy for the myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN), but treatment toxicity has been a barrier to its more widespread use. The nonmyeloablative regimen of total lymphoid irradiation (TLI) and antithymocyte globulin (ATG) permits the establishment of donor hematopoiesis necessary for the graft-versus-malignancy effect and is protective against acute graft-versus-host disease (aGVHD), but it has minimal direct cytotoxicity against myeloid diseases. We explored the use of TLI-ATG conditioning to treat 61 patients with allo HCT for MDS (n = 32), therapy-related myeloid neoplasms (n = 15), MPN (n = 9), and chronic myelomonocytic leukemia (n = 5). Read More

Ann Hematol 2013 Oct 10;92(10):1335-43. Epub 2013 May 10.

Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, 1515 Holcombe Blvd., Unit 72, Houston, TX 77030, USA.

The presence of moderate to severe bone marrow (BM) fibrosis has been shown to be an adverse feature in patients with primary myelodysplastic syndromes (MDS). However, the clinical importance of BM fibrosis is not clear in therapy-related MDS. We retrieved all therapy-related MDS (t-MDS) cases (n = 266) diagnosed at our hospital over a 10-year period (2003-2012). Read More

Am J Clin Pathol 2012 Dec;138(6):855-66

Dept of Pathology, Department of Medicine, Duke University Medical Center,Durham, NC 27710, USA.

We describe 41 cases of myeloid neoplasms (MNs) secondary to plasma cell myeloma (PCM). The types of MN included myelodysplastic syndrome (MDS) in 34 (82.9%), acute myeloid leukemia (AML) in 4 (9. Read More

Semin Hematol 2012 Oct;49(4):323-9

Hôpital Avicenne, Assistance Publique-Hôpitaux de Paris, Service d'hématologie clinique, Paris 13 university, Bobigny, France.

Azacitidine (AZA) improves long-term outcomes of higher-risk myelodysplastic syndrome (MDS) and is now the reference frontline therapy of higher-risk MDS not eligible for allogeneic stem cell transplant. Notably, in a phase III randomized trial, AZA significantly prolonged overall survival (OS) compared to conventional care regimens, in all cytogenetic subgroups. Nevertheless, further improvement of outcome for those patients is warranted, partly by researching for better prognostic factors of response to AZA, and also by developing new therapeutic strategies, in particular by combining AZA and other drugs known to have an effect in MDS. Read More

Leuk Lymphoma 2013 Mar 21;54(3):639-42. Epub 2012 Aug 21.

Am J Hematol 2012 Jul 6;87(7):684-6. Epub 2012 May 6.

Mayo Medical School, Mayo Clinic and Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

Among 6,565 consecutive abnormal cytogenetic reports at our institution, 3,192 (49%) constituted sole abnormalities, of which 230 (7%) involved chromosome 7: monosomy 7 (n = 98), 7q- (n = 51), der(1;7)(q10;p10) (n = 44), balanced translocations (n = 15), ring 7 (n = 13), and 7p- (n = 9). The most frequent histopathologic correlates were myelodysplastic syndromes (MDS; 28%), acute myeloid leukemia (AML; 17%), secondary or therapy-related MDS/AML (13%), primary myelofibrosis (PMF; 7%), and chronic myelomonocytic leukemia (6%). Monosomy 7 was the most frequent in each one of these disease categories except PMF where 7q- was more frequent. Read More

Am J Hematol 2013 Mar 6;88(3):240-1. Epub 2012 May 6.

Department of Hematology/Oncology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

Exp Hematol 2012 Apr 20;40(4):295-306.e5. Epub 2011 Dec 20.

Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, TX 78229, USA.

Myelodysplastic syndrome is a complex family of preleukemic diseases in which hematopoietic stem cell defects lead to abnormal differentiation in one or more blood lineages. Disease progression is associated with increasing genomic instability and a large proportion of patients go on to develop acute myeloid leukemia. Primarily a disease of the elderly, it can also develop after chemotherapy. Read More

Hum Pathol 2012 Feb 9;43(2):153-64. Epub 2011 Dec 9.

Department of Hematopathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

Prominent erythroid proliferations (in which erythroid elements comprise ≥50% of total bone marrow cells) can be seen in various hematopoietic stem cell neoplasms. The myeloproliferative neoplasm polycythemia vera exhibits effective, overexuberant erythropoiesis resulting in an increased red blood cell mass; in contrast, most other diseases characterized by erythroid predominance exhibit ineffective hemopoiesis. The latter include acute erythroid leukemia (erythroid-myeloid and pure erythroid leukemia subtypes) as well as some cases of myelodysplastic syndromes, acute myeloid leukemia with myelodysplasia-related changes, and therapy-related myeloid neoplasms. Read More

Haematologica 2012 Feb 11;97(2):206-12. Epub 2011 Oct 11.

Department for Haematology, Oncology and Clinical Immunology, University of Duesseldorf Medical Faculty, Duesseldorf, Germany.

Background: Few data are available on therapy-related myelodysplastic syndromes and acute myeloid leukemia developing after radioiodine treatment.

Design And Methods: We retrospectively analyzed 39 patients with myeloid neoplasms following radioiodine treatment, whose data were reported to the Duesseldorf Myelodysplastic Syndromes Register (8 of 3814 patients) and five other German Myelodysplastic Syndromes centers (n=31) between 1982 and 2011. These data were compared with those from 165 patients from our Myelodysplastic Syndromes Register with therapy-related myeloid neoplasms following chemotherapy (n=90), radiation (n=30), or radiochemotherapy (n=45). Read More

J Cell Biochem 2011 Feb;112(2):425-32

Division of Radiation Information Registry, Research Institute for Radiation Biology and Medicine, Hiroshima University, Minami-ku, Hiroshima, Japan.

RUNX1/AML1 point mutations have been identified in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) patients. A heterozygous germline mutation of the RUNX1 gene causes a familial platelet disorder with a predisposition to AML. RUNX1 mutations have also been detected with high frequency in minimally differentiated AML M0 subtypes and myelodysplastic/myeloproliferative neoplasms. Read More

Mod Pathol 2011 Mar 19;24(3):375-83. Epub 2010 Nov 19.

Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030-4009, USA.

Pure erythroid leukemia (PEL) is rare, characterized by a neoplastic proliferation of erythroblasts. Given recent incorporation of molecular genetic findings and clinical features in the revised 2008 World Health Organization classification scheme of acute myeloid leukemia, we questioned if PEL still remains as a distinct subtype of acute myeloid leukemia. In this retrospective study, we identified 18 cases of acute leukemia with morphologic and immunophenotypic features of PEL. Read More

Int J Lab Hematol 2010 Oct 7;32(5):461-76. Epub 2010 Jul 7.

The Department of Hematopathology, UT MD Anderson Cancer Center, Houston, TX 77030, USA.

The fourth edition of the World Health Organization (WHO) classification of myeloid neoplasms refined the criteria for some previously described myeloid neoplasms and recognized several new entities based on recent elucidation of molecular pathogenesis, identification of new diagnostic and prognostic markers, and progress in clinical management. Protein tyrosine kinase abnormalities, including translocations or mutations involving ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB, and FGFR1, have been used as the basis for classifying myeloproliferative neoplasms (MPN). Two new entities - refractory cytopenia with unilineage dysplasia and refractory cytopenia of childhood have been added to the group of myelodysplastic syndromes (MDS), and 'refractory anemia with excess blasts-1' has been redefined to emphasize the prognostic significance of increased blasts in the peripheral blood. Read More

Jpn J Clin Oncol 2010 Nov 29;40(11):1037-45. Epub 2010 Jun 29.

Department of Internal Medicine, College of Medicine, Seoul National University, Seoul, Republic of Korea.

Background: Differences in the clinical course of secondary acute myeloid leukemia according to the type of the preceding disorders are not defined. We compared the outcomes of therapy-related acute myeloid leukemia, acute myeloid leukemia following myelodysplastic syndrome and acute myeloiod leukemia following myeloproliferative neoplasm. We also intended to find prognostic factors in secondary acute myeloid leukemia overall. Read More

Mod Pathol 2010 Aug 14;23(8):1113-26. Epub 2010 May 14.

Department of Hematopathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

The diagnostic criteria for acute erythroid leukemia have been controversial since this disease was initially described. Using the current World Health Organization classification criteria, we retrospectively reviewed cases of acute myeloid leukemia or myelodysplastic syndrome in which erythroid precursors were >or=50% of the bone marrow nucleated cell population and the diagnosis of erythroleukemia was considered using older classification schemes. We collected 90 cases and separated them into four diagnostic groups: acute erythroid leukemia, erythroleukemia or erythroid/myeloid type (n=20); acute myeloid leukemia with myelodysplasia-related changes (n=22); therapy-related acute myeloid leukemia (n=32); and refractory anemia with excess blasts and preceding or concurrent history of erythropoietin therapy for anemia (n=16). Read More

Blood 2010 Mar 29;115(10):1985-92. Epub 2009 Dec 29.

Department of Pathology, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA.

Acute erythroid leukemia (AEL) is a rare type of acute myeloid leukemia (AML) for which diagnostic criteria have been refined in the 2008 World Health Organization (WHO) classification of AML. The relationship of AEL to myelodysplastic syndromes (MDSs) and to AML with myelodysplasia-related changes (AML-MRC) is not clearly defined. We conducted a retrospective, multi-institutional study of patients with AEL and compared them with patients with MDS or AML-MRC with erythroid hyperplasia (> or = 50% erythroid cells). Read More

Chem Biol Interact 2010 Mar 24;184(1-2):16-20. Epub 2009 Oct 24.

University of Chicago Medical Center, 5841 South Maryland Avenue, MC0008, Chicago, IL 60637, United States.

The World Health Organization (WHO) classification of myeloid and lymphoid neoplasms utilizes morphology, immunophenotype, genetics and clinical features to define disease entities of clinical significance. It is a consensus classification in which a number of experts have agreed on the classification and diagnostic criteria. In general, the classification stratifies neoplasms according to their lineage (myeloid, lymphoid, histiocytic/dendritic) and distinguishes neoplasms of precursor cells from those comprised of functionally mature cells. Read More

Cancer Genet Cytogenet 2009 Sep;193(2):78-85

Cytogenetics Laboratory, City of Hope, 1500 E. Duarte Road, Duarte, CA 91010, USA.

The der(1;7)(q10;p10) aberration is observed in about 1-3% of the myelodysplastic syndromes (MDS) and less commonly in acute myeloid leukemia (AML) and the myeloproliferative disorders. This unbalanced translocation is considered a "variant" of the del(7q)/-7 subgroup and has been assigned a poor risk karyotype score in the MDS International Prognostic Scoring System (IPSS). Recent reports suggest der(1;7) MDS should be considered a discrete MDS subgroup with an intermediate, not poor, karyotype score. Read More

Ann Hematol 2008 Jun 20;87(6):467-74. Epub 2008 Mar 20.

Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska University Hospital, 413 45 Göteborg, Sweden.

A minor fraction of patients with polycythemia vera (PV) develop a terminal acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). Analysis of the cytogenetic abnormalities during AML or MDS may help in understanding if this development is part of the natural course of the disease or induced by myelosuppressive therapy. Thirty-six cases with AML or MDS post PV, collected in a single Swedish institution during a 33-year period, are described with special regard to time to development of AML or MDS, therapy given during active PV, and cytogenetic findings during AML or MDS. Read More

Blood 2008 Apr 17;111(7):3735-41. Epub 2008 Jan 17.

Cancer Research Institute of Lille, JP Aubert Center, Inserm Unit 837, France.

Acquired molecular abnormalities (mutations or chromosomal translocations) of the RUNX1 transcription factor gene are frequent in acute myeloblastic leukemias (AMLs) and in therapy-related myelodysplastic syndromes, but rarely in acute lymphoblastic leukemias (ALLs) and chronic myelogenous leukemias (CMLs). Among 18 BCR-ABL+ leukemias presenting acquired trisomy of chromosome 21, we report a high frequency (33%) of recurrent point mutations (4 in myeloid blast crisis [BC] CML and one in chronic phase CML) within the DNA-binding region of RUNX1. We did not found any mutation in de novo BCR-ABL+ ALLs or lymphoid BC CML. Read More

Pathobiology 2007 ;74(2):97-114

Indiana University School of Medicine, Division of Hematopathology, Indianapolis, IN 4622-5200, USA.

In spite of the impressive advances in the area of molecular pathology, bone marrow morphology remains the diagnosis cornerstone to identify the various subtypes of myeloid neoplasms. Morphological examination of the bone marrow requires both bone marrow aspirate and bone marrow trephine biopsy. Immunohistochemistry of bone marrow biopsy with markers reactive in paraffin-embedded tissues represents a powerful diagnostic tool; its results can be easily correlated with those obtained by other techniques such as flow cytometry and genetic analysis, and above all, the clinical findings. Read More

Cancer Genet Cytogenet 2007 Jun;175(2):125-31

Laboratory of Histology, Embryology, and Cytogenetics, Faculty of Medicine and Health Sciences, Université de Bretagne Occidentale, 22, avenue Camille Desmoulins, CS 93837, F-29238 Brest cedex 3, France.

Dicentric chromosomes have often been observed in complex karyotypes in previously reported studies of therapy-related myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Fluorescence in situ hybridization (FISH) has now made the characterization of these rearrangements much easier. Dicentric and tricentric chromosomes were identified in 21 patients (9 MDS and 12 AML) among the 133 consecutive MDS/AML patients (17%) who had a structural or numerical aberration of chromosome 5 using conventional cytogenetic analysis. Read More

Best Pract Res Clin Haematol 2007 Mar;20(1):29-37

Department of Medicine and Cancer Research Center, University of Chicago, Chicago, Illinois 60637, USA.

Secondary leukemia is a poorly defined term that often refers to the development of acute myeloid leukemia (AML) following the history of a previous disease, such as a myelodysplastic syndrome or a chronic myeloproliferative disorder. Secondary leukemia can also be a consequence of treatment with chemotherapy, including alkylating agents and topoisomerase II inhibitors, and/or radiotherapy, or due to exposure to environmental carcinogens. Outcomes for this large and variable group of patients with secondary AML have been poor compared to people who develop AML de novo. Read More

Bone Marrow Transplant 2006 Jan;37(2):183-9

Bone Marrow Transplantation, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

We report the results of 65 patients with treatment-related myelodysplastic syndrome (MDS)/acute myelogenous leukemia (AML) who were transplanted from an autograft and reported to the EBMT. The median age was 39 years (range, 3-69), and stem cell source was bone marrow (n = 31), or peripheral blood progenitor cells (n = 30), or the combination of both (n = 4). The primary disease was solid tumors (n = 37), Hodgkin's disease (n = 13), non-Hodgkin's lymphoma (n = 10), acute lymphoblastic leukemia (n = 2) or myeloproliferative syndromes (n = 3). Read More

Rinsho Ketsueki 2003 Mar;44(3):168-73

Department of Hematology, JA Suzuka General Hospital.

A 62-year-old woman was diagnosed as having malignant lymphoma, diffuse large B-cell type. She underwent chemotherapy with the standard dose of CHOP and MINE regimens, resulting in complete remission. Four months later, the myelodysplastic syndrome of RA (refractory anemia) with pancytopenia developed and rapidly progressed to acute myelogenous leukemia (AML-M6) in 4 months. Read More

Genes Chromosomes Cancer 2002 Jun;34(2):186-92

Division of Molecular Cytogenetics, Department of Clinical Pathology, Research Institute of International Medical Center of Japan, Tokyo, Japan.

Chromosome bands 1p36 and 3p21 are known to be recurring breakpoints in therapy-related (t-) leukemia. We identified a recurring translocation, t(1;3)(p36;p21), in eight patients with various hematologic malignancies: three patients with ALL, one with chronic myelogenous leukemia (CML) in accelerated phase (AP), two with MDS, and two with AML(M3). Five of the eight patients had a history of chemotherapy, including alkylating agents in three, before the translocation was detected. Read More

Clin Lab Med 2000 Mar;20(1):71-81, ix

Department of Medicine, University of Maryland School of Medicine, Baltimore, USA.

Acute leukemias that arise as a result of treatment with DNA-damaging agents exhibit distinctive molecular, genetic, and clinico-pathologic features. In this timely article, the authors dissect the pathogenetic basis of therapy-related leukemias, elucidating important molecular mechanisms through which DNA damage causes these disorders. The authors also discuss how these molecular aberrations translate into specific clinical syndromes, and in addition, point out potential molecular targets for the development of innovative treatment approaches. Read More

Genes Chromosomes Cancer 1999 Mar;24(3):222-9

Department of Clinical Genetics, Lund University Hospital, Sweden.

The present study was undertaken to ascertain the frequency of cytogenetic polyclonality in various hematologic malignancies and to investigate whether morphologic subgroup, age, gender, or previous genotoxic exposure influences the incidence. Among 2,243 cytogenetically investigated hematologic malignancies, 10 acute myeloid leukemias (AML), 5 myelodysplastic syndromes (MDS), 2 acute lymphoblastic leukemias (ALL), 1 acute undifferentiated leukemia (AUL), 1 atypical Philadelphia chromosome-negative (Ph-) chronic myeloid leukemia (CML), 1 chronic myeloproliferative disorder (CMD), and 1 chronic lymphoproliferative disorder (CLD) with karyotypically unrelated clones were identified, constituting 2.6% of AML, 1. Read More

Cancer Genet Cytogenet 1997 Dec;99(2):97-101

Department of Clinical Genetics, University Hospital, Lund, Sweden.

The clinical, morphologic, and cytogenetic features of two hematologic malignancies--one acute myeloid leukemia with minimal differentiation (AML-MO) and one therapy-related myelodysplastic syndrome (MDS)--with unbalanced translocations between 1q and 5q are reported. The translocations resulted in loss of 5q material in both cases and gain of 1q in the MDS. A compilation of previously published hematologic malignancies with translocations involving the long arms of chromosomes 1 and 5 revealed a total of 23 cases--11 with unbalanced and 12 with balanced t(1;5)--with the following morphologies: 11 AML, three MDS, two Philadelphia-positive chronic myeloid leukemias, three chronic myeloproliferative disorders, three acute lymphoblastic leukemias, and one chronic lymphocytic leukemia. Read More

Genes Chromosomes Cancer 1997 Nov;20(3):282-91

Department of Medicine, University of Chicago, Illinois, USA.

We have identified three unbalanced translocations involving chromosomes 5 and 17, der(5)t(5;17), der(17)t(5;17), and dic(5;17), in the malignant cells from 17 patients with myeloid neoplasms. Six patients had a primary myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) de novo; ten patients had therapy-related MDS and/or AML (t-MDS/t-AML), and one patient had chronic myelogenous leukemia in myeloid blast phase. Two of the six patients with MDS or AML de novo had extensive exposure to industrial solvents, and one patient had Seckel syndrome. Read More

Leukemia 1997 Aug;11(8):1207-13

Department of Clinical Genetics, Lund University Hospital, Sweden.

Cytogenetic aberrations resulting in deletion of 3p are common in solid tumors, indicating the presence of tumor suppressor genes (TSG) on this chromosome arm. The present study was undertaken to investigate 3p loss in hematologic disorders. Ten acute myeloid leukemias (AML), two myelodysplastic syndromes (MDS), one Philadelphia chromosome-positive chronic myeloid leukemia (CML), three acute lymphoblastic leukemias (ALL), one chronic lymphoproliferative disorder (CLD), and three non-Hodgkin's lymphomas (NHL) with abnormalities leading to 3p deletions were identified, constituting 2. Read More

Blood 1997 Mar;89(6):2036-41

Medizinische Klinik, University of Heidelberg, Germany.

Loss of chromosome 7 (-7) or deletion of its long arm (7q-) are recurring chromosome abnormalities in myeloid disorders, especially in therapy-related myelodysplastic syndrome (t-MDS) and acute myeloid leukemia (t-AML). The association of -7/7q- with myeloid leukemia suggests that these regions contain a novel tumor suppressor gene(s) whose loss of function contributes to leukemic transformation or tumor progression. Based on chromosome banding analysis, two critical regions have been identified: one in band 7q22 and a second in bands 7q32-q35. Read More

Intern Med 1996 Aug;35(8):660-2

Department of Internal Medicine, Honma Hospital, Sakata.

A 42-year-old woman with Crow-Fukase syndrome developed acute myeloid leukemia (M6: FAB classification) following treatment with alkylating agents (a total of 2,500 mg of melphalan and 9,800 mg of cyclophosphamide). Chromosome analysis of the bone marrow showed 49,XX,der(1;7)(q10;p10), +8, +19, +21 in therapy-related myelodysplastic syndrome with additional chromosomes 8, and 12 and two additional chromosomes 21 in acute leukemia. Because of the risk of therapy-related leukemia, alkylating agents should be used with caution in the treatment of Crow-Fukase syndrome. Read More

Praxis (Bern 1994) 1996 Mar;85(12):378-86

Klinik für Hämatologie, Universität Düsseldorf.

The option of bone marrow transplantation (BMT) significantly improved prognosis of adult patients with hematologic malignancies aged less than 50 years. Allogeneic BMT using the marrow of an HLA-identical family member still provides the most effective method of BMT. Conventional indications for this form of BMT are chronic myeloid leukemia (CML), acute leukemias presenting with adverse risk factors, myelodysplastic syndromes and severe aplastic anemia. Read More

Blood 1995 Aug;86(4):1525-33

Department of Medicine, University of Chicago, IL 60637, USA.

Unbalanced translocations as well as interstitial deletions of the short arm of chromosome 12 [del(12p)] are found as recurring chromosomal changes in a broad spectrum of hematopoietic malignancies. These changes result in the hemizygous deletion of genetic material from 12p. We mapped a yeast artificial chromosome containing the TEL gene, a cosmid contig containing part of TEL and a P1 contig containing the KIP1 gene to 12p13. Read More

Cancer Genet Cytogenet 1994 Aug;76(1):50-5

Department of Hematology, Rigshospitalet, Copenhagen, Denmark.

Translocation (3;21)(q26;q22) has been observed only rarely in de novo myelodysplasia (MDS) and de novo acute myeloid leukemia (AML), but, including the two new cases in the present study, the aberration has now been identified in at least 10 cases of t-MDS or t-AML. All these 10 patients had previously received alkylating agents, in nine patients combined with a drug targeting at DNA-topoisomerase II (doxorubicin in eight cases). Eight of the ten patients presented with t-MDS. Read More

Blood 1993 May;81(10):2728-34

Department of Medicine, University of Chicago, IL.

A nonrandom translocation between chromosomes 3 and 21, t(3;21)(q26.2;q22) has been detected in patients with a myelodysplastic syndrome or acute myeloid leukemia after treatment (t-MDS/t-AML) for a primary malignant disease and in chronic myelogenous leukemia in blast crisis (CML-BC). In these patients, the breakpoint on chromosome 21 is at band 21q22. Read More

Rinsho Ketsueki 1992 Dec;33(12):1851-6

Department of Medicine, Shimizu Kousei Hospital.

A 56-year-old man had a leiomyosarcoma of the small intestine in 1987. After surgery, he received cyclophosphamide for 2 years. In December, 1990, he exhibited severe pancytopenia. Read More

Cancer Genet Cytogenet 1989 Dec;43(2):227-41

Center for Human Genetics, University of Leuven, Belgium.

Clinical, cytomorphologic, and cytogenetic investigations were carried out in a series of 76 secondary MDS and ANLL. Chromosome abnormalities were more frequent in patients with a history of multiple myeloma or macroglobulinemia (92%) and myeloproliferative disorders (82%) than in patients with previous breast cancer (40%). The secondary hematologic malignancies were mostly a trilineage bone marrow disorder. Read More