Nineteen cases of the t(1;22)(p13;q13) acute megakaryblastic leukaemia of infants/children and a review of 39 cases: report from a t(1;22) study group (original) (raw)
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Cancer, 1991
An unusual presentation of acute megakaryocytic leukemia (AMKL) is reported in two young children. The first child had a 10-day history of ptosis of the right eyelid as the initial manifestation of AMKL, a clinical picture not previously described in this variant of leukemia. Computed tomographic scanning showed multiple intracranial mass lesions, and the diagnosis of AMKL was confirmed by immunophenotyping of bone marrow blasts. The second child had Down syndrome and received alkylating agents and radiation therapy for treatment of metastatic rhabdomyosarcoma of the orbit. She had AMKL as second malignancy. Both patients had acquired chromosome 21 anomalies in their leukemic blasts. The first patient, constitutionally normal, had an i(21q) in his leukemic blasts; the patient with constitutional trisomy 21 had tetrasomy 21 and additional chromosomal changes. The clinical symptoms and the results of morphologic, immunologic, and cytogenetic studies are discussed. Cancer 68:2266-2272,1991.
Infantile Acute Megakaryoblastic Leukaemia with T(1:22) in a Non-Down Syndrome Child
ABSTRACT Megakaryoblastic leukaemia is the commonest form of leukaemia occuring in Down syndrome infants. However, it’s subtype with translocation t(1;22)(p13;q13) is uncommon comprising <1% of all cases and reported to exclusively occur in infant without Down syndrome. It has a female predominance and carries a poor prognosis. We described this rare form of leukaemia in a 9-month-old girl who presented with bruises, massive hepatosplenomegaly and multiple cervical and inguinal lymphadenopathy. The blood film showed severe anaemia with ovalostomatocytosis, thrombocytopenia and mild leucocytosis. The bone marrow aspirate showed numerous blasts showing high nuclear-cytoplasmic ratio and agranular cytoplasm with cytoplasmic blebs. Peroxidase staining was negative. The immunophenotyping of the blasts showed positive expression of CD117, CD13, CD33 and CD61 which confirmed the diagnosis of acute megakaryoblastic leukaemia. Interestingly, the cytogenetic finding of translocation t(1;22...
Acute Megacaryoblastic Leukemia in Infants (About a Case)
2018
DOI: 10.21276/sjpm.2018.3.3.1 Abstract: Acute megakaryoblastic leukemia, or type 7 (AML 7), is a rare entity defined by a proliferation of blasts of which at least 50% are megakaryoblasts. It represents 0.5 to 2% of acute leukemias (LA) in children and 3 to 10% of acute myeloid leukemias (AML). Patients may have nonspecific symptoms. His diagnosis is based on the presence in the blood or in the marrow of blasts with typical morphology and expressing specific platelet antigens. This observation describes the clinical case of a 19-month-old infant with pancytopenia. The diagnosis of AML7 was made based on explorations of peripheral blood, myelogram, and immunophenotypic analysis. Chemotherapy has been started, with a poor therapeutic response. The patient died in a state of septic shock. We recall through a literature review the clinical, histological and immunophenotypic features of acute megakaryoblastic leukemia.
Malawi Medical Journal
Acute Megakaryoblastic Leukaemia (AML, M7) is a rare type of acute myeloid leukemia (AML) evolving from primitive megakaryoblasts. It accounted for 1.2% of newly diagnosed AML according to Eastern Cooperative Oncology Group (ECOG) trials between 1984 and 1997. Patients may present with a broad variety of symptoms including low-grade fever, easy bruising, and life-threatening conditions. We report a rare case of AML, M7 in a 19-year-old lady who presented with weakness and fatigue. She was diagnosed as a case of AML, M7 on the basis of peripheral blood finding, bone marrow examination report, radiological findings and immunophenotyping.
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).
Clinical and Hematological Profile of Acute Megakaryoblastic Leukemia: A 2 Year Study
Indian Journal of Hematology and Blood Transfusion, 2014
Acute megakaryoblastic leukemia is a rare subtype of acute myeloid leukemia with a characteristic morphologic and immunophenotypic profile. It has to be distinguished from other subtypes of acute myeloid leukemia as well as acute myeloid leukemia with t (1; 22) (p13;q13) and acute megakaryoblastic leukemia in Down Syndrome because of its poor prognosis. We studied ten cases diagnosed over a period of 2 years (from July 2011 to June 2013). All the ten cases were in the pediatric age group ranging from 4 months to 2 years. On morphology, pointers to the diagnosis were clustering of blasts, presence of cytoplasmic blebs and platelet budding. An additional interesting morphological feature observed in our study was nuclear blebs which were seen in nine cases. Diagnosis was confirmed in all cases by positive immunostaining for CD61. Two of the cases had an extremely rare clinical presentation as granulocytic sarcoma. Although rare, acute megakaryoblastic leukemia should be kept in mind especially in leukemia in infants.
Cancer Genetics and Cytogenetics, 2009
The strong association of diagnostic karyotype with clinical outcome has made cytogenetics one of the most valuable diagnostic and prognostic tools for acute myeloid leukemia (AML). The subtype M7 is a rare disease of the megakaryoblastic lineage and is mostly associated with complex abnormal karyotype. We describe the clinical, morphologic, immunophenotypic, and cytogenetic findings in the case of a 39-year-old man with acute megakaryoblastic leukemia (AML-M7). Cytogenetic analysis revealed two translocations, t(8;17)(q23;q24.2) and t(9;22)(p24.1;q12.2), at presentation; to our knowledge, this combination is a novel finding for acute megakaryoblastic leukemia. The patient responded to induction therapy, achieving complete remission after 9 days of therapy.
Acute megakaryocytic leukemia in a newborn with down syndrome
Journal of Dr. NTR University of Health Sciences, 2013
Patient with Down's syndrome (DS) are found to have an increased risk of developing various hematological disorders. There is 46-to 83-fold increased risk of acute myeloid leukemia (AML) and 10-to 27-fold increased risk of acute lymphoid leukemia (ALL). One of the most characteristics feature of Down syndrome associated AML (DS-AML) is that vast majority of case (c.70%) of AML in DS are megakaryoblastic i.e. M7 as per FAB classifi cation (DS-AMKL). Virtually, all cases of DS-AMKL occur within the fi rst 5 years of life. The median age of presentation of AMKL is 1.8 years. We report a case of AMKL in a newborn with Down's syndrome.