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Acute Megakaryocytic Leukemia

AMKL


Presentation

  • Here we report on a 14-month-old girl who presented with a massive periosteal reaction of the extremities and clavicles associated with myelofibrosis, a presenting feature of AML M7. The bone changes were very unusual in this case.[ncbi.nlm.nih.gov]
  • This report presents evidence that the original lymphoid population represented hematogones, which were preferentially aspirated due to marrow fibrosis.[ncbi.nlm.nih.gov]
  • Acute megakaryocytic leukemia (AML M7) is a rare type of acute myelogenous leukemia in adults, commonly presenting with myelofibrosis.[ncbi.nlm.nih.gov]
  • Lytic lesions of the skull and jaws were also present, and these have not been previously described in AMKL.[ncbi.nlm.nih.gov]
  • The clinical courses of the children with AMKL and the t(1;22) presented may be indicative of a beneficial effect of autologous BMT in this subset of patients.[ncbi.nlm.nih.gov]
Anemia
  • A 52-year-old man had aregenerative anemia unresponsive to pyridoxine hydrochloride. Acute leukemia developed, and he died four months after diagnosis.[ncbi.nlm.nih.gov]
  • There were three cases of megaloblastic anemia (cases 56, 407, and 79) ( Table 3 ).[doi.org]
  • The results indicated that the fever, hemorrhage, hepatosplenomegaly and lymphadenopathy in this case were the primary presentations accompanying by leukocytosis, anemia and thrombocytopenia. An adequate marrow aspirate could not be obtained.[ncbi.nlm.nih.gov]
  • Initial findings included anemia (in all patients), thrombocytopenia (in six), myelofibrosis (in three), lytic bone lesions (in two), and pronounced leukocytosis (in one).[ncbi.nlm.nih.gov]
  • There was history of death of one sibling at the age of 11 months due to severe anemia and abdominal distension, evaluation was not done in that child. There was no history of transfusion dependent anemia in the family.[ijpmonline.org]
Petechiae
  • DS-AML in newborn usually presents with nodular skin infiltrates (bluish, fibroma-like tumors, leukemia cutis), hepatosplenomegaly, lethargy, poor feeding, pallor, purpura/petechiae, respiratory distress. [4] Most Down's syndrome AML are of AML-M7 (DS-AMKL[jdrntruhs.org]
  • Skin Findings in the skin include the presence of petechiae ecchymosis due to thrombocytopenia and pallor due to anemia. It can result in leukocytoclastic vasculitis.[lecturio.com]
Suggestibility
  • These results suggest that TRIB1 may be a novel important oncogene for Down syndrome-related acute megakaryocytic leukemia. [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]
  • Our results suggest that RUNX1 may play a critical role in chemotherapy response in AMkL by regulating the PI3-kinase/Akt pathway.[ncbi.nlm.nih.gov]
  • Somatic mutations in the GATA1 transcription factor have been detected exclusively and almost uniformly in Down syndrome AMkL patients, suggesting a potential linkage to the chemotherapy sensitivity of Down syndrome megakaryoblasts.[ncbi.nlm.nih.gov]
  • This rare case of DS AMKL without a GATA1 mutation with an unfavorable outcome suggests that GATA1 testing may play a useful role in initial stratification.[ncbi.nlm.nih.gov]
  • This patient exhibited no therapy-related toxicity after chemotherapy, suggesting that acute leukemia with BWS may not require a reduction in dosage.[ncbi.nlm.nih.gov]

Workup

  • His initial workup, and the course of management and outcome, is described in detail.[ncbi.nlm.nih.gov]
  • During his initial workup, he was found to have polymorph nuclear leukocytosis (total leukocyte count - 14,300/cmm) with thrombocytopenia (60,000/cmm) and marginally raised serum lactate dehydrogenase levels (234 IU/L) with his chest radiograph showing[marinemedicalsociety.in]
X-Ray Abnormal
  • Although the radiographic spectrum of bony changes in leukemia have been well characterized, skeletal X-ray abnormalities in the setting of AML M7 in pediatric patients have been described in few reports that were associated with bone marrow fibrosis.[ncbi.nlm.nih.gov]
Abnormal Bone Scan
  • A case of acute megakaryocytic leukemia in a 13-month-old infant was encountered in whom an abnormal bone scan was associated with abnormal I-131 MIBG uptake in the femoral bone marrow.[ncbi.nlm.nih.gov]
Thrombocytosis
  • Acute megakaryoblastic leukemia Corresponding ICD-10-CM Codes (U.S. only) C94.2 Acute megakaryoblastic leukemia (effective October 01, 2015) Signs and Symptoms Anemia Asthenia Cytopenia Easy bruising or bleeding Fever Hepatosplenomegaly Thrombocytopenia Thrombocytosis[seer.cancer.gov]
  • ., chronic myelogenous leukemia, polycythemia vera, essential thrombocytosis, and primary myelofibrosis. In one review of adult-AMKL, 25% of 49 cases were considered as secondary to one of these MPN.[en.wikipedia.org]
  • Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis The criteria for MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T; previously known as RARS-T) include thrombocytosis ( 450 10 9 /L) associated with refractory[doi.org]
  • The Philadelphia chromosome abnormality was detected in 3 patients (8%) without prior history or clinical features of chronic myeloid leukemia, such as splenomegaly, basophilia, or thrombocytosis. Table 2.[bloodjournal.org]
  • View Article PubMed Google Scholar Balatzenko G, Guenova M, Zechev J, Toshkov S: Acute megakaryoblastic leukaemia with extreme thrombocytosis and p190 (bcr/abl) rearrangement. Ann Hematol. 2004, 83: 381-385. 10.1007/s00277-003-0783-1.[jhoonline.biomedcentral.com]

Treatment

  • The multiple-signaling mechanism of ATO warrants it a potential agent to incorporate in the treatment regimen of AMKL.[ncbi.nlm.nih.gov]
  • We conclude that these genetic aberrations may be used for risk group stratification of pediatric AMKL and for treatment tailoring.[ncbi.nlm.nih.gov]
  • Patients were treated with different treatment protocols according to their respective study group.[doi.org]
  • Though the etiology of this complication remains unclear, our experience suggests that early institution of chemotherapy along with supportive care is the best treatment for control of hypercalcemia.[ncbi.nlm.nih.gov]
  • In this review, we will analyze the diverse molecular features unique to AMegL and how they have influenced the development of novel treatment strategies, including polyploidization.[ncbi.nlm.nih.gov]

Prognosis

  • In conclusion, childhood acute megakaryoblastic leukemia is a rare and easily misdiagnosed disease with poor prognosis.[ncbi.nlm.nih.gov]
  • Despite intensive chemotherapy, AMKL in children appears to be associated with a poor prognosis.[ncbi.nlm.nih.gov]
  • CBFA2T3-GLIS2 is the most frequent chimeric oncogene identified to date in this subset of patients and confers a poor prognosis.[ncbi.nlm.nih.gov]
  • A patient’s prognosis depends on the cause of the illness. One third, or 33 percent, of children who are found to have a mutation of the T cells have a poor prognosis, One third of patients with Down’s syndrome have a better prognosis.[knowcancer.com]
  • These cases carry a poor prognosis. Another third of cases is found in Down syndrome. These cases have a reasonably fair prognosis. The last third of cases may be heterogeneous, and carry a poor prognosis.[checkorphan.org]

Etiology

  • Though the etiology of this complication remains unclear, our experience suggests that early institution of chemotherapy along with supportive care is the best treatment for control of hypercalcemia.[ncbi.nlm.nih.gov]
  • Hitzler, Origin of Leukemia in Children with Down Syndrome, Etiology of Acute Leukemias in Children, 10.1007/978-3-319-05798-9_5, (109-131), (2016). Sa A. Wang and Robert P.[doi.org]
  • The etiology is different compared to treatment-related leukemia.[marinemedicalsociety.in]
  • Hitzler, Origin of Leukemia in Children with Down Syndrome, Etiology of Acute Leukemias in Children, 10.1007/978-3-319-05798-9_5, (109-131), (2016).[doi.org]

Epidemiology

  • October 01, 2015) Signs and Symptoms Anemia Asthenia Cytopenia Easy bruising or bleeding Fever Hepatosplenomegaly Thrombocytopenia Thrombocytosis Diagnostic Exams Immunophenotyping Lumbar puncture Peripheral blood smear Progression and Transformation None Epidemiology[seer.cancer.gov]
  • Characteristics Epidemiology AMKL is diagnosed in 7–10% of infants and children with AML without Down syndrome (DS).[link.springer.com]
  • Epidemiology The disease is rare and, due to difficulty in diagnosis, its exact incidence is not known.[atlasgeneticsoncology.org]
  • Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Genet Cytogenet. 1987 ; 28 : 55 -76. Robison LL. Down syndrome and leukemia. Leukemia. 1992 ; 6 (suppl 1): 5 -7.[doi.org]
  • Cancer Epidemiology, Biomarkers, and Prevention. 2005;14(2):467-75. D’Souza G, Kreimer AR, Viscidi R, et al. Case-control study of human papillomavirus and oropharyngeal cancer. New England Journal of Medicine. 2007;356(19):1944-56.[news.cancerconnect.com]
Sex distribution
Age distribution

Pathophysiology

  • It brings together the pathophysiology of disease with detailed clinical guidance on diagnosis and management for the full range of childhood cancers, including aspects important in optimal supportive care.[books.google.com]
  • A better understanding of the pathophysiology of M7 AML and new therapeutic strategies are needed for patients with M7 AML. Footnotes Reprints: Guillermo Garcia-Manero, Department of Leukemia, University of Texas M.D.[bloodjournal.org]
  • Acute basophilic leukemia Acute panmyelosis with myelofibrosis Myeloid sarcoma Myeloid proliferations related to Down syndrome Transient abnormal myelopoiesis Myeloid leukemia associated with Down syndrome Blastic plasmacytoid dendritic cell neoplasm Pathophysiology[lecturio.com]

Prevention

  • In boys Gardasil is approved for prevention of genital warts. In girls it is approved for prevention of genital warts as well as cancer or precancer of the cervix, vulva, and vagina.[news.cancerconnect.com]
  • Related Journals of Megakaryocytic Leukemia Journal of Leukemia, Advances in Cancer Prevention, Cancer Diagnosis, Cancer Science & Therapy, Archives in Cancer Research, Leukemia, Nature Reviews Cancer, International Journal of Cancer, Cancer Research,[omicsonline.org]
  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • Collaborative overview of randomised trials of antiplatelet therapy, I: Prevention of death, myocardial infarction, and stroke by prolonged antiplatelet therapy in various categories of patients. ‏[books.google.com]
  • Prevention - Acute megakaryoblastic leukemia Not supplied.[checkorphan.org]

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