scholarly journals Previously Unreported Chromosomal Aberrations of t(3;3)(q29;q23), t(4;11)(q21;q23), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph+ CML

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Cigdem Aydin ◽  
Zafer Cetin ◽  
Ozan Salim ◽  
Orhan Kemal Yucel ◽  
Levent Undar ◽  
...  

Chronic myelogenous leukemia (CML) is a clonal hematological disorder, which is characterized by the presence of the classical or variant Philadelphia translocations. During the progression to blastic phase of the disease secondary chromosomal abnormalities may emerge. Such secondary chromosomal abnormalities are nonrandom, the more frequent ones being trisomy 8 and 19, supernumerary i(17q), and extra Philadelphia chromosomes. Furthermore, a minor percentage of the patients may acquire different secondary chromosomal abnormalities including translocations between other chromosomes. We report here a patient with Ph+ CML presenting secondary chromosomal abnormalities including t(4;11)(q21;q23), t(3;3)(q29;q23) and t(11;18)(q10;q10) during the course of CML progression.

Author(s):  
Salil N. Vaniawala ◽  
Monika V. Patel ◽  
Pratik D. Chavda ◽  
Shivangi H. Zaveri ◽  
Pankaj K. Gadhia

Background: Acute myeloid leukemia (AML) is a heterogeneous disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Trisomy 8 is the most common recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other additional chromosomal aberrations. The prognostic significance of trisomy 8 in presence of other additional chromosomal abnormality depends on clonal cytogenetic changes. The patients with trisomy 8 had shorter survival with significantly increased risk with other chromosomal abnormality.Methods: Total 139 patients were screened between January 2016 to November 2016 who were suspected of AML cases. Bone marrow cultures were set up using conventional cytogenetic methods. Chromosomal preparation was made and subjected to GTG banding technique. Banded metaphases were analysed and karyotyped for further analysis.Results: Cytogenetic evaluation of karyotyped of 139 suspected AML patients showed 52 with t(8;21)(q22;q22), 36 with t(15;17)(q22;q12), and 11 with inv(16)(p13;q22). The rest 40 cases found with additional chromosomal abnormalities, of which 16 were sole trisomy 8 and 24 cases were found with other chromosomal abnormalities In addition, only one person found with t(8;21) and trisomy 8, while  three person having t(15;17) with trisomy 8.Conclusions: AML is considered to be one of the most important cytogenetic prognostic determinants. Recurrent chromosomal translocation with trisomy 8 varying 1.9% for t(8;21) and 8.3% for t(15;17). In the present study trisomy 8 in AML with known favourable anomalies is very small. Therefore, it cannot be taken as a prognostic marker.


1993 ◽  
Vol 94 (1) ◽  
pp. 69-74 ◽  
Author(s):  
Paul M. Derderian ◽  
Hagop M. Kantarjian ◽  
Moshe Talpaz ◽  
Susan O'Brien ◽  
Ann Cork ◽  
...  

Cancer ◽  
2001 ◽  
Vol 92 (10) ◽  
pp. 2501-2507 ◽  
Author(s):  
Hagop M. Kantarjian ◽  
Jianqin Shan ◽  
Terry Smith ◽  
Moshe Talpaz ◽  
Peter Kozuch ◽  
...  

PLoS ONE ◽  
2013 ◽  
Vol 8 (9) ◽  
pp. e74864 ◽  
Author(s):  
Kiyoko Yamamoto ◽  
Shinobu Tsuzuki ◽  
Yosuke Minami ◽  
Yukiya Yamamoto ◽  
Akihiro Abe ◽  
...  

Blood ◽  
2015 ◽  
Vol 125 (21) ◽  
pp. 3230-3235 ◽  
Author(s):  
A. John Barrett ◽  
Sawa Ito

Abstract The introduction of tyrosine kinase inhibitors (TKIs), a treatment of chronic myelogenous leukemia (CML), has largely replaced curative strategies based on allogeneic stem cell transplantation (SCT). Nevertheless, SCT still remains an option for accelerated/blastic-phase and selected chronic-phase CML. Transplant outcomes can be optimized by peritransplant TKIs, conditioning regimen, BCR-ABL monitoring, and relapse management. Controversies exist in transplant timing, pediatric CML, alternative donors, and economics. SCT continues to serve as a platform of “operational cure” for CML with TKIs and immunotherapies.


2006 ◽  
Vol 47 (11) ◽  
pp. 2427-2430 ◽  
Author(s):  
Jan A. Burger ◽  
Annette Schmitt-Gräff ◽  
Andrea Bürkle ◽  
Lysann Seiler ◽  
Jürgen Finke

Blood ◽  
1978 ◽  
Vol 51 (6) ◽  
pp. 1039-1044 ◽  
Author(s):  
BR Greenberg ◽  
FD Wilson ◽  
L Woo ◽  
HM Jenks

Abstract The cytogenetic status of bone marrow stromal elements obtained from six patients with Ph1-positive chronic myelogenous leukemia (CML), two in blast crisis, was studied in vitro utilizing the potential of marrow to form surface-adherent colonies morphologically compatible with mesenchymal elements. We demonstrated the absence of both the marker chromosome and other chromosomal abnormalities in all the fibroblastic colonies studied, indicating that the progenitors of such colonies (plaque-forming units in culture, PFU-C) are not closely related to hematopoietic elements including macrophages. This supports previous reports suggesting that the stromal elements in myelofibrosis associated with CML are not derived from the primary Ph1-positive malignant clone but represent a stromal reactive component of benign or independent malignant potential.


2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Rohit Gulati ◽  
Yaser Alkhatib ◽  
Vijayalakshmi Donthireddy ◽  
Michelle Madden Felicella ◽  
Madhu P. Menon ◽  
...  

Blast phase in chronic myelogenous leukemia (CML) has rarely been reported to involve extramedullary sites like skin, lymph nodes, and central nervous system. Clinical history, characteristic hematologic findings (elevated leukocyte counts, myelocytic predominance, and basophilia), and Philadelphia chromosome are of high diagnostic significance especially in isolated extramedullary presentations. We describe a unique case of CML relapse with blast phase involving the eye. A 66-year-old man with a known diagnosis of CML on imatinib and in molecular remission for 3 years presented with a painful blind eye. Histologic examination revealed diffuse involvement of choroid, iris, vitreous humor, and the optic nerve by blast cells. The blasts expressed CD34, aberrant TdT, and a myeloid phenotype (CD13, CD33, and CD117). Fluorescence in situ hybridization (FISH) of vitreous fluid detectedBCR-ABL1gene rearrangement. Additionally, trisomy 8 and gains of 9 and 22 were seen which were not present in the initial diagnostic marrow study 3 years ago. At relapse, the bone marrow, peripheral blood, and the cerebrospinal fluid were not involved by CML. Patient received induction chemotherapy and single dose prophylactic intrathecal methotrexate and was maintained on antityrosine kinase therapy and eventually underwent allogenic stem cell transplantation.


Sign in / Sign up

Export Citation Format

Share Document