Cytogenetic biclonality in a child with hypocellular primary myelodysplastic syndrome

Rodrigues, Eliane Ferreira; Souza, Daiane Corrêa de; Camargo, Adriana; Tavares, Rita de Cássia; Bouzas, L.F.; Ornellas, Maria Helena; Fernandez, Teresa de Souza

doi:10.1016/j.cancergencyto.2007.05.025

Cited by 5 publications

(3 citation statements)

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“…Rare cytogenetic abnormalities, considered as intermediate group in the IPSS, as hyperdiploidy and cytogenetic biclonality, already described by our group, may be reported to help to elucidate its clinical implications in hypocellular primary MDS [30, 31]. In these studies we showed the importance of cytogenetic abnormality for the diagnosis of hypocellular primary MDS and to indicate the patients to stem cell transplantation.…”

Section: Discussionsupporting

confidence: 63%

“…In these studies we showed the importance of cytogenetic abnormality for the diagnosis of hypocellular primary MDS and to indicate the patients to stem cell transplantation. It is important to note that, in some cases, the hypocellular bone marrow makes the diagnosis between MDS and aplastic anemia a difficult process, and the cytogenetic, in these cases, is considered an important tool for diagnosis characterizing a clonal chromosomal abnormality and indicating the diagnosis of MDS [30, 32]. …”

Section: Discussionmentioning

confidence: 99%

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Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome

Souza

Fernandez

Camargo

et al. 2014

BioMed Research International

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We analyzed cytogenetically 105 patients with hypocellular primary MDS and their clinical implications. The main chromosomal abnormalities found were del(5q)/−5, del(6q)/+6, del(7q)/−7, del(11q), and del(17p). Pediatric patients had a higher frequency of abnormal karyotypes compared with adult patients (P < 0,05). From our patients, 18% showed evolution of the disease. The chromosomal abnormalities presented in the diagnosis of patients who evolved to AML included numerical (−7, +8) and structural del(6q), del(7q), i(7q), t(7;9), i(9q), and del(11q) abnormalities and complex karyotypes. Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that some chromosomal alterations may play a critical role during this process. We applied the IPSS in our patients because this score system has been proved to be useful for predicting evolution of disease. When we considered the patients according to group 1 (intermediate-1) and group 2 (intermediate-2 and high risk), we showed that group 2 had a high association with respect to the frequency of abnormal karyotypes (P < 0,0001), evolution of disease (P < 0,0001), and mortality (P < 0,001). In fact, the cytogenetic analysis for patients with hypocellular primary MDS is an important tool for diagnosis, prognosis, in clinical decision-making and in follow-up.

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Section: Discussionsupporting

confidence: 63%

Section: Discussionmentioning

confidence: 99%

Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome

Souza

Fernandez

Camargo

et al. 2014

BioMed Research International

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“…It occurs most commonly in the sixth to seventh decade of life, with the median age of ~70, but MDS has also been reported in pediatric population (Rodrigues et al, 2007;Neukirchen et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

Adult Primary Myelodysplastic Syndrome: Experience from a Tertiary Care Center in Pakistan

Sultan

Irfan²

2016

Asian Pacific Journal of Cancer Prevention

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Background: Primary myelodysplastic syndrome (MDS) is an acquired clonal disorder of myeloid progenitor cells, characterized by peripheral cytopenias in the presence of hypercellular marrow with dysplastic features. Our aim was to study the demographical and clinicopathological features of adult Pakistani patients with MDS at disease presentation. Materials and Methods: This single centre study was conducted at Liaquat National Hospital and Medical College, extending from January 2010 to December 2014. Data were retrieved from the patient archives. Results: Overall 45 patients were diagnosed at our institution with de novo MDS during the study period. There were 28 males and 17 females. Age ranged between 18 and 95 years with a mean age of 57.6±17.4 years and median of 64 years. The male to female ratio was 1.7:1. The main presenting complaints were generalized fatigue (60%), fever (33.3%), dyspnea (15.5%), bleeding (13.3%) and weight loss (11.1%). Examination was unremarkable in 42.2% of patients. Physical examination revealed pallor in 37.7%, followed by petechial and purpuric rashes in 20%. The commonest laboratory finding was anemia (hemoglobin < 10 g/dl in 41 (91.1%) patients. Out of these, 27 (60%) patients had normocytic anemia, followed by macrocytic (22.2%) and microcytic (8.8%). Conclusions: Primary MDS in Pakistani patients demonstrates a male preponderance. The proportion of anemic patients was high in our series with predominance of normocytic anemia. However, other clinico-hematological features appear comparable to published data.

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A rare case of myelodysplastic syndrome with i(9q) in a child associated to osteochondromatosis

Souza

Fernandez

Land

et al. 2011

Pediatric Blood & Cancer

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Cytogenetic biclonality in a child with hypocellular primary myelodysplastic syndrome

Cited by 5 publications

References 10 publications

Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome

Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome

Adult Primary Myelodysplastic Syndrome: Experience from a Tertiary Care Center in Pakistan

A rare case of myelodysplastic syndrome with i(9q) in a child associated to osteochondromatosis

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