ABSTRACT
The latest WHO (2017) classification describes the hematological abnormalities of Down's syndrome as a separate entity under 'Myeloid proliferations associated with Down's syndrome'. It includes Transient Abnormal Myelopoiesis and Myeloid leukemia of Down's syndrome. Here we report a case of a 3 days old neonate with Down's syndrome, presenting with a leukemic blood picture. The baby had icterus, fever and hepatosplenomagaly. Peripheral blood showed megakaryoblasts and giant platelets. A diagnosis of transient abnormal myelopoiesis was made by confirming with karyotyping and immunophenotyping. We attempt to address all the diagnostic challenges faced by a clinician and pathologist same, upon encountering such a case,by following an algorithmic approach. The mandatory need for follow up and cytogenetic studies in identifying high risk cases that will become myeloid leukemia of Down's syndrome are stressed. Our case also throws light upon the significance of identification of GATA1 mutation in diagnosing and prognostication of such cases.
ABSTRACT
Objective To analyze the role of various blood cell surface differentiation antigens (CD) in the diagnosis and differen‐tial diagnosis of acute megakaryoblastic leukemia by detecting the immunophenotype in 5 patients with acute megakaryoblastic leu‐kemia .Methods The flow cytometry produced by the BD company and its matching reagents kits were used to detect CD in 5 pa‐tients with acute megakaryoblastic leukemia .Results All patients expressed CD41 and CD42 with the positive rate of 100% ;the lymphoid antigens ware negative in all cases ;CD13 was positive in 4 cases with the positive rate of 80% ;CD33 was positive in 3 ca‐ses with the positive rate of 60% ;CD14 and CD15 were expressed in each 1 case ,the positive rate was 20% .Conclusion The test results show that the CD41 and CD42 have an important value in the diagnosis and differential diagnosis of acute megakaryoblastic leukemia .At the same time ,the characteristic of series non‐specificityin the blood cells of the patients with acute megakaryoblas‐tic leukemia is verified again .
ABSTRACT
Infants with Down syndrome have increased incidences of transient abnormal myelopoiesis (TAM) and acute leukemia, which are usually associated with acute megakaryoblastic leukemia (AMKL). A 5-day-old girl with Down syndrome was diagnosed with TAM; 4 months later, acute leukemic transformation was suspected. Bone marrow (BM) examination was performed, and the infant was diagnosed with acute leukemia (80% blasts). Although BM aspirates showed the presence of megakaryocytic blasts with cytoplasmic blebs, flow cytometry analysis revealed that they were negative for cells with CD41a and CD61 immunophenotypes. Further analysis revealed that the megakaryocyte-related marker CD42a was positive in 57% of blasts. Morphologic and immunophenotypic features are required to establish the lineage of megakaryocytic blasts, which are necessary for diagnosing AMKL. As most cases of AMKL were positive for CD41 and/or CD61 markers, their presence was evaluated during routine analysis. In order to identify the immunophenotypic features of AMKL in an infant with Down syndrome, we performed additional flow cytometry for CD42a, one of the megakaryocytic markers, and were able to assist in the early diagnosis of AMKL, as well as to use CD42a as an effective follow-up marker.
Subject(s)
Female , Humans , Infant , Blister , Bone Marrow , Cytoplasm , Down Syndrome , Early Diagnosis , Flow Cytometry , Follow-Up Studies , Incidence , Leukemia , Leukemia, Megakaryoblastic, Acute , MyelopoiesisABSTRACT
We describe a very rare case of 6.9-year-old boy with Down syndrome (DS) and a prior history of transient myeloproliferative disorder. He was diagnosed with acute megakaryoblastic leukemia and found to have a novel GATA1 gene mutation, as well as a complex karyotype without recurrent acute myeloid leukemia (AML) aberrations. The patient achieved an early bone marrow response to chemotherapy. However, relapse occurred during treatment, 9 months after the initial diagnosis. Although GATA1 mutations are closely associated with DS-AML, we speculate that factors other than the presence of the GATA1 mutation can affect the overall outcome in older pediatric patients.
Subject(s)
Humans , Bone Marrow , Down Syndrome , Karyotype , Leukemia, Megakaryoblastic, Acute , Leukemia, Myeloid, Acute , Myeloproliferative Disorders , RecurrenceABSTRACT
We describe a very rare case of 6.9-year-old boy with Down syndrome (DS) and a prior history of transient myeloproliferative disorder. He was diagnosed with acute megakaryoblastic leukemia and found to have a novel GATA1 gene mutation, as well as a complex karyotype without recurrent acute myeloid leukemia (AML) aberrations. The patient achieved an early bone marrow response to chemotherapy. However, relapse occurred during treatment, 9 months after the initial diagnosis. Although GATA1 mutations are closely associated with DS-AML, we speculate that factors other than the presence of the GATA1 mutation can affect the overall outcome in older pediatric patients.
Subject(s)
Humans , Bone Marrow , Down Syndrome , Karyotype , Leukemia, Megakaryoblastic, Acute , Leukemia, Myeloid, Acute , Myeloproliferative Disorders , RecurrenceABSTRACT
The association of hematological malignancies with a mediastinal germ cell tumor (GCT) is very rare. We report one case of a young adult male with primary mediastinal GCT who subsequently developed acute megakaryoblastic leukemia involving isochromosome (12p). A 25-yr-old man had been diagnosed with a mediastinal GCT and underwent surgical resection and adjuvant chemotherapy. At 1 week after the last cycle of chemotherapy, his peripheral blood showed leukocytosis with blasts. A bone marrow study confirmed the acute megakaryoblastic leukemia. A cytogenetic study revealed a complex karyotype with i(12p). Although additional chemotherapy was administered, the patient could not attain remission and died of septic shock. This case was definitely distinct from therapy-related secondary leukemia in terms of clinical, morphologic, and cytogenetic features. To our knowledge, this is the first case report of a patient with mediastinal GCT subsequently developing acute megakaryoblastic leukemia involving i(12p) in Korea.
Subject(s)
Adult , Humans , Male , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Bleomycin/administration & dosage , Bone Marrow/pathology , Chromosomes, Human, Pair 12 , Cisplatin/administration & dosage , Etoposide/administration & dosage , Isochromosomes , Karyotyping , Leukemia, Megakaryoblastic, Acute/drug therapy , Mediastinal Neoplasms/diagnosis , Neoplasms, Germ Cell and Embryonal/diagnosis , Neoplasms, Second Primary/drug therapy , Republic of Korea , Shock, Septic/pathologyABSTRACT
Myelofibrosis (MF), or fibrosis of the bone marrow, is an uncommon condition in children. Fewer than 100 cases have been described in the medical literature. Most cases in children arise secondary to other disease processes. We present a case of Myelofibrosis in a 12-year-old girl. The purpose of reporting this case is that this child had a diagnostic dilemma and was sent home with poor prognosis but with proper diagnosis and treatment she improved and may have a complete cure, as the myelofibrosis was secondary to tuberculosis.
ABSTRACT
A four-year-old female initially presented with fever, cough, headache and bone pain. On admission, a complete blood cell count revealed anemia (Hb 8.4 g/dL, WBC 4, 630/microL, platelets 132, 000/microL) and a few blasts were observed in a peripheral blood smear. A bone marrow study revealed inadequate aspirate due to dry tap and extensive fibrosis on the biopsy section. Cytogenetic analysis showed a karyotype with 48, XX, t(1;22)(p13;q13), +der(1) t(1;22), +2. Considering the specificity of cytogenetic results and extensive myelofibrosis, acute megakaryoblastic leukemia was diagnosed. Acute megakaryoblastic leukemia with t(1;22)(p13;q13) is known to be a relatively clear-cut cytogeneticomorphological defined syndrome. Herein, we report a first case of acute megakaryoblastic leukemia with t(1;22)(p13;q13) in Korea.
Subject(s)
Female , Humans , Anemia , Biopsy , Blood Cell Count , Bone Marrow , Cough , Cytogenetic Analysis , Cytogenetics , Fever , Fibrosis , Headache , Karyotype , Korea , Leukemia, Megakaryoblastic, Acute , Primary Myelofibrosis , Sensitivity and SpecificityABSTRACT
We experienced a case of congenital acute megakaryoblastic leukemia with Down syndrome. The patient was admitted due to characteristic facial figure of Down syndrome and abdominal distension. Acute megakaryoblastic leukemia was diagnosed with abundant megakaryoblast in peripheral blood smear, severe myelofibrosis in bone marrow biopsy and positive platelet glycoprotein III a receptor. On third hospital day, the patient expired due to DIC and pulmonary hemorrhage. Authors report the case with review of literature.
Subject(s)
Humans , Biopsy , Blood Platelets , Bone Marrow , Dacarbazine , Down Syndrome , Glycoproteins , Hemorrhage , Leukemia, Megakaryoblastic, Acute , Megakaryocyte Progenitor Cells , Primary MyelofibrosisABSTRACT
We experienced a case of congenital acute megakaryoblastic leukemia with Down syndrome. The patient was admitted due to characteristic facial figure of Down syndrome and abdominal distension. Acute megakaryoblastic leukemia was diagnosed with abundant megakaryoblast in peripheral blood smear, severe myelofibrosis in bone marrow biopsy and positive platelet glycoprotein III a receptor. On third hospital day, the patient expired due to DIC and pulmonary hemorrhage. Authors report the case with review of literature.
Subject(s)
Humans , Biopsy , Blood Platelets , Bone Marrow , Dacarbazine , Down Syndrome , Glycoproteins , Hemorrhage , Leukemia, Megakaryoblastic, Acute , Megakaryocyte Progenitor Cells , Primary MyelofibrosisABSTRACT
We analyzed the clinical and laboratory features of ten children with acute megakaryoblastic lukemia (M7)and compared the findings with those reported in the literature. The diagnosis was supprted by ultrastructural examination of platelet peroxidase or immunophenotyping for glycoprotein IIb/IIIa. Of the ten children, five were girls and five were boys. The median age at diagnosis was 13 months. Two patients had prominent myelofibrosis and one patient had Down syndrome. Nine patients were treatd with low-dose cytosine arabinoside (10mg/m2)administered intravenously, or subcutaneously, or intramuscularly, twice daily in 21 day courses. Seven patients achieved hematologic response and three patients are alive without evidence of disease. The 4 year event free survival rate was30.0%. It is our impression that the prevalence of acute megakaryoblastic leukemia has been under-estimated, and low-dose cytosine arabinoside treatment may be of value in its management. This approach may be particularily useful in hospitals with scarce well-equipped facilities, since this protocol does not induce profound marrow hypoplasia and intensive supportive measures are not required as they would be with the use of more aggressive drug combination.
Subject(s)
Child , Female , Humans , Blood Platelets , Bone Marrow , Cytarabine , Diagnosis , Disease-Free Survival , Down Syndrome , Glycoproteins , Immunophenotyping , Leukemia, Megakaryoblastic, Acute , Megakaryocyte Progenitor Cells , Peroxidase , Prevalence , Primary MyelofibrosisABSTRACT
Acute megakaryoblastic leukemia is a rare and rapidly fatal disease characterized by proliferation of megakaryocyte series and atypical megakaryocytes in the bone marrow. Acute megakaryoblastic leukemia is suspicious when 1) megakaryocyte in peripheral blood, mixture of large and small mononuclear megakaryoblast in the bone marrow 2) cytoplasmic budding in blast 3) myelofibrosis (dense medullary overgrowth of reticulin fibers) 4) PAS (+), ANAE (+), SBB (−), peroxidase (−) and which is confirmed by platelet peroxidase oxidation on electron microscope or monoclonal antibody. A case of acute megakaryoblastic leukemia was studied morphologically and monoclonal antibody.