A Rare Case of Acute Myeloblastic Leukemia With Blast Count Less Than 20% in Bone Marrow (original) (raw)
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Acute myeloid leukemia associated with t(16:21)(p11;q22) in a pediatric patient
Boletín Médico del Hospital Infantil de México, 2020
Background: Rare subgroups of pediatric patients with acute myeloid leukemia (AML), such as t(16:21) (p11;q22), require international cooperation to establish a proper stratification system to assign clinical risk. Case report: Here, we report a 13-year-old female who was admitted for asthenia, fatigue, and intermittent fever. The hematological data showed thrombocytopenia and anemia, and the bone marrow test showed 82.5% blast cells, which were positive for CD13, CD33, CD38, and CD117. Blast cells showed negative myeloperoxidase staining and positive periodic acid-Schiff staining. A diagnosis of AML M6 was made. Cells were positive for the fusion transcript FUS-ERG t(16;21)(p11;q22). The patient achieved morphological remission. However, molecular remission was not achieved, and she died 11 months after diagnosis. Conclusions: It is essential to report this sporadic case of AML to provide clinicians with data for clinical decision-making, such as for risk-group stratification. To the best of our knowledge, this is the first association between this translocation and this morphological subtype.
British Journal of Haematology, 1994
We describe our experience in the identification of 1 9 cases of AML-MO categorized among 200 consecutive AML cases. Leukaemic cells from our cases were morphologically marked by agranular basophilic cytoplasm, finely dispersed chromatin and prominent nucleoli. In two cases heavily vacuolated and monocytoid-shaped blasts were also observed. Cytochemistry (MPO, SBB, aANAE, aNBE, NASDCAE, AP, PAS) was negative in 14 cases, five cases expressing a very faint cytoplasmic positivity for aNBE (not exceeding 30% of the blasts) and aANAE (not exceeding 41%) which was sodium fluoride resistant. In these five cases other monocytic markers (e.g. CD14) were not in favour of myelomonocytic differentiation. All the cases were anti-MPO positive at frequency > 10%. Phenotypic analysis also revealed myeloid features with all the patients having at least one myeloid antigen (CD13, CD33. CD15), Tdt was expressed in nine cases and CD7 in six cases. All cases but one were positive for CD34. Cytogenetic analysis, performed in 16 cases, showed no adequate growth in two cases and no consistent abnormality in four; among the remaining 10 cases no consistent abnormality was observed, the most common finding was trisomy 8 (two cases) and 4 (two cases) and aberrations of chromosomes 2 , 3 , 5 , 7 , 9 , 1 2 and 21. No cases of (t9;22), Ph chromosome were observed. Interestingly three out of five patients with faint aNBE/aANAE positivity relapsed as typical M 4 (one case) or M5a (two cases).
Acute Myeloid Leukemia Presenting with an unusual Phenotype
Indian Journal of Medical and Paediatric Oncology, 2005
The diagnosis of acute myeloid leukemia (AML) requires expression of myeloid markers, CD13 and 33, positivity for myeloperoxidase and /or anti-MPO. AML with an unusual phenotype represented by myeloperoxidase positivity and absence of myeloid antigen expression is seen in less than 10% of cases. Myeloid antigens may be detected in the cytoplasm where they may be present before they are expressed on the cell surface. Here we present two rare cases of AML where the blasts were positive for myeloperoxidase and anti-MPO but negative for surface CD13 and CD33. Although AML-M2 with t(8; 21) is the subtype usually seen in these cases, one of our patients had biphenotypic leukemia with del 9
Molecular and cytogenetic abnormalities in acute myeloid leukemia: review and case studies
Einstein (São Paulo), 2011
Objective: To study the frequency of mutations that may lead to a good or bad prognosis, as well as their relation with the karyotype and immunophenotype in patients with acute myeloid leukemia. Methods: Thirty samples of patients with acute myeloid leukemia were studied, in which FLT3-ITD, FLT3-TKD and NPM1 mutations were investigated. All samples were submitted to immunophenotyping and 25 to karyotyping. results: An occurrence of 33.3% NPM1 mutation and an equal number of FLT3-ITD mutation were observed. When only the cases with normal karyotype were studied, this figures increased to 50 and 40%, respectively. Eight percent of cases with normal karyotype and genotype NPM1+/FLT3-were included in the group of acute myeloid leukemia with good prognosis. The typical phenotype of acute myeloid leukemia with normal karyotype and mutated NPM1 (HLA-DR and CD34 negative) was not observed in this small series. conclusion: Good prognosis cases were identified in this series, emphasizing the need to include new genetic markers in the diagnostic routine for the correct classification of acute myeloid leukemia, to more properly estimate prognosis and determine treatment.
British Journal of Haematology, 2003
During a 10-year period (1992)(1993)(1994)(1995)(1996)(1997)(1998)(1999)(2000)(2001) in the region of Southern Denmark, 337 patients aged 15 years or older (range 16-93 years, median 67 years) were diagnosed with acute myeloid leukaemia (AML). Cytogenetic analysis was carried out in 90%, of whom 53% had clonal chromosome aberrations. Some 24% and 31% had only numerical or structural abnormalities respectively. The remaining patients showed both types of abnormalities. Ploidy levels in decreasing order were: pseudodiploidy, 41%; hyperdiploidy, 32%; and hypodiploidy, 27%. Pseudodiploidy characterizes type M3 (70%) and hypodiploidy M6 (56%). Recurrent cytogenetic abnormalities -t(8;21), t(15;17) and inv(16) -were found in 3AE3%, 3AE3% and 2AE0% of all patients respectively. Prognostically intermediate and adverse aberrations were found in 39% and 44%, respectively, of those with an abnormal karyotype. Rare recurrent aberrations were found in two patients in this material. A previously described non-recurrent abnormality was found to be recurrent in one patient [der(20)t(11;20)(q13.2;p13)]. New, previously undescribed abnormalities were found in 41 patients. Statistically significant correlations were found between t(15;17) and young age (P < 0AE001), inv(16) and young age (P < 0AE006), )17 and M6 (P ¼ 0AE007), and M6 and complex karyotype with five or more unrelated aberrations (P ¼ 0AE004). We conclude that this truely population-based cytogenetic study of adult AML showed distributions of chromosome abnormalities that differ from those described so far.
Annals of Hematology, 2005
In routine diagnostic procedures of acute myeloid leukemia (AML), the French-American-British (FAB) and World Health Organization (WHO) classifications both play a central role. Some morphologic subtypes are specifically associated to distinct cytogenetic and molecular aberrations; however, such close correlations do not exist for the majority of entities. We evaluated cytogenetics in 2,235 patients at diagnosis of AML with the FAB subtypes M0-2, M4, and M5-7. The cytogenetic patterns of these subtypes showed differences with respect to the clonal aberration rate and the incidence of complex aberrant karyotypes. The frequency of numerical gains and losses and of structural losses and the incidence of 11q23/MLL rearrangements differed. Thus, cytomorphology of AML may be helpful to support or even initiate other diagnostic procedures, e.g., interphase fluorescence in situ hybridization and polymerase chain reaction. In conclusion, the central role of morphology as defined by the FAB and WHO classification in AML at diagnosis is still justified in combination with other techniques.
Significance of cytogenetic abnormalities in acute myeloid leukaemia
JPMA. The Journal of the Pakistan Medical Association, 2006
OBJECTIVE To evaluate the role of karyotype in acute myeloid leukaemia (AML) as a predictor of response to induction chemotherapy. METHODS A cross-sectional study was carried out at the department of Pathology and Oncology, Aga Khan University Karachi from January 2003 to January 2005. Newly diagnosed patients with denovo AML admitted to the hospital were included in the study. Diagnosis of AML was based on FAB criteria, immunophenotyping and cytogenetic studies. They were treated according to standard protocols (combination of anthracycline and cytarabine -3+7) and those who had acute promyelocytic leukaemia additionally received all- trans retinoic acid (ATRA). RESULTS A total of 56 patients were enrolled, 4 were excluded due to inadequate cytogenetic analysis and the remaining patients entered the study protocol. There were 32 males and 20 females with mean age of 31.3 years (range 9 months to 73 years). Thirty-five (67.3%) patients had normal karyotype while 17 (32.7%) were foun...
Cancer, 1985
Some patients present borderline features between acute myeloid leukemia (AML) and typical myelodysplastic syndromes (MDS): an excess of blasts insufficient to conclusively diagnose AML, yet above the figures usually compatible with MDS or the presence of Auer rods associated with a moderate excess of blasts. This presents considerable difficulties in diagnosis and management. The authors studied 28 such cases using the French-American-British Co-operative Group (FAB) classification, which groups them into a separate category termed "refractory anemia with excess of blasts in transformation" (RAEB-T). This was found to be a heterogenous group. Certain patients (4/28) had a previously established myelodysplasia, but most presented directly as RAEB-T. Two very different pictures emerged: a few patients (4/28) were young, with presentation and evolution similar to classic AML, for whom combination chemotherapy was effective; the majority (20/28) were older, with more varied clinical and cytologic presentation, for whom chemotherapy was of little effect and who presented a picture resembling classic RAEB with a median survival of 10 months.