Transient Spontaneous Remission In Congenital Mll-af10 Rearranged Acute Myeloid Leukemia Presenting With Cardiorespiratory Failure And Meconium Ileus
Gyárfás, T., Wintgens, J., Biskup, W., Oschlies, I., Klapper, W., Sieberight, R., Bens, S., Haferlach, C., Meisel, R., Kuhlen, M., & Borkhardt, A. (2016). Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus. Molecular and cellular pediatrics, 3(1), 30. https://doi.org/10.1186/s40348-016-0061-7
View Original Source →Abstract
BackgroundNeonatal leukemia is a rare disease with an estimated prevalence of about one to five in a million neonates. The majority being acute myeloid leukemia (AML), neonatal leukemia can present with a variety of symptoms including hyperleucocytosis, cytopenia, hepatosplenomegaly, and skin infiltrates. Chromosomal rearrangements including mixed lineage leukemia (MLL) translocations are common in neonatal AML.Case presentationA female neonate born at 34 weeks gestation presented with cardiorespiratory failure, hepatosplenomegaly, pancytopenia, and coagulopathy. She required intensive care treatment including mechanical ventilation, high-dose catecholamine therapy, and multiple transfusions. Small intestinal biopsy obtained during laparotomy for meconium ileus revealed an infiltrate by an undifferentiated monoblastic, MLL-rearranged leukemia. No other manifestations of leukemia could be detected. After spontaneous clinical remission, lasting 5 months without any specific treatment, the patient presented with leukemia cutis and full-blown monoblastic leukemia. MLL-AF10-rearranged AML could be re-diagnosed and successfully treated with chemotherapy and hematopoietic stem cell transplantation.ConclusionsOur patient exhibited a unique manifestation of neonatal MLL-AF10 rearranged AML with cardiorespiratory failure and intestinal infiltration. It highlights the importance of leukemia in the differential diagnosis of neonatal distress, congenital hematological abnormalities, and skin lesions.
Case Details
Disease Location
Bone marrowithblood oral mucosa skin
Personal Characteristics
14- months-old girl, c-section at 34 weeks. Apgar score was 2/6/7.
Clinical Characteristics
Persisting respiratory insufficiency at birth required maximally invasive treatment. Echocardiogram revealed pulmonary hypertension and compromised right ventricular function. Massive hepatosplenomegaly was detectable on abdominal ultrasound. The etiology of the clinical condition with cardiorespiratory failure, pancytopenia, and disseminated intravascular coagulopathy together with skin hemorrhages and hepatosplenomegaly was at first elusive peripheral blood smears from the fourth day of life revealed immature monocytic cells, and bone marrow puncture was found unrepresentative without evidence of blastic cells. On the tenth day of life the assessment of acute abdomen required explorative laparotomy. Buccal mucosa and ileum biopsies were undertaken to exclude neonatal hemochromatosis. Pathological examination revealed diffuse submucosal infiltration by polymorphous, atypical cells suspicious of langerhans cell histiocytosis, the lch was dropped and diagnosed with undifferentiated leukemia with partial monoblastic differentiation. Five months after dismiss, while on treatment for hemangioma with propranolol, suspicious, blue-berry muffin-like skin lesions were noted on clinical examination. Monoblastic leukemia (acute myeloid leukemia fab m5) was diagnosed from peripheral blood and bone marrow
Remission Characteristics
Two subsequent bone marrow punctures at the age of 3 and 5 weeks did not show any signs of leukemia, and no mll rearrangement could be detected by fish. Subsequently, leukocyte, erythrocyte, and thrombocyte counts recovered spontaneously, accompanied by gradual clinical improvement including complete weaning from ventilator supporight
Treatment & Mechanisms
Proposed Remission Mechanisms
Infection or disease related cytokine release
Clinical Treatment
Surfactant, high-frequency oscillation ventilator and nitrogen monthsoxide, dobutamine and adrenaline infusions,. Erythrocyte transfusion, and further erythrocyte transfusions were necessary in the first weeks of life. Ganciclovir various antibiotics and fluconazole were administered explorative laparotomy vincristine and prednisolone chemotherapy hematopoietic stem cell transplantation busilvex, cyclophos- phamide, melphalan, and anti-thymocyte globulin (atg). Cyclosporin a and methotrexate were adminis- tered as prophylaxis against graft versus host disease