scholarly journals Targeted Next-Generation Sequencing in Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia Aids Diagnosis in Challenging Cases and Identifies Frequent Spliceosome Mutations in Transformed Acute Myeloid Leukemia

2016 ◽  
Vol 145 (4) ◽  
pp. 497-506 ◽  
Author(s):  
Erica Reinig ◽  
Fei Yang ◽  
Elie Traer ◽  
Ranjana Arora ◽  
Shari Brown ◽  
...  
2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Prasun Pudasainee ◽  
Bimatshu Pyakuryal ◽  
Yogesh Subedi ◽  
Jenisha Upadhyay ◽  
Subarna Adhikari

Chronic myelomonocytic leukemia (CMML) is a relatively rare clonal hematologic disorder with features of myelodysplastic syndrome and myeloproliferative disease. Extramedullary leukemic involvement is rarely a presenting feature of CMML. As there are no clear guidelines in regard to the treatment of patients with extramedullary manifestations, its management is challenging. In this report, we discuss the management of our patient who presented with submandibular lymphadenopathy and gingivitis and was diagnosed with CMML.


1997 ◽  
Vol 20 (1) ◽  
pp. 87-91 ◽  
Author(s):  
Teresa de Souza Fernandez ◽  
Maria Luiza M. Silva ◽  
Jamison M. de Souza ◽  
Daniel Tabak ◽  
Eliana Abdelhay

In this work we analyzed cytogenetically 50 patients with primary myelodysplastic syndrome from several hospitals of Rio de Janeiro, Brazil. The frequency of cytogenetic abnormalities was 32%. Patients with refractory anemia, or refractory anemia with ringed sideroblasts, presented normal karyotypes or single abnormalities such as del(5q) or -Y, while patients with refractory anemia with an excess of blasts, refractory anemia with an excess of blasts in transformation or chronic myelomonocytic leukemia showed complex karyotypes and single abnormalities involving chromosomes 7 or 8, which are related to a bad prognosis and an elevated risk of evolution to acute myeloid leukemia.


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