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Congenital acute myeloid leukemia with t(8;16) and t(17;19) double translocation: case presentation and literature review.

Sung TJ, Lee DH, Kim SK, Jun YH - J. Korean Med. Sci. (2010)

Bottom Line: A newborn boy was born with multiple subcutaneous nodules and large purpuric papules.With the fear of chemotherapy-related toxicity, to treat or not to treat may be a dilemma both to parents and pediatricians.We report our experience and review the literature.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, College of Medicine, Hallym University Medical Center, Seoul, Korea. neosung@hallym.or.kr

ABSTRACT
Congenital leukemia is uncommon and excluding transient myeloproliferation associated with Down syndrome, makes up approximately 1% of childhood leukemias. A newborn boy was born with multiple subcutaneous nodules and large purpuric papules. Skin biopsy revealed proliferation of atypical hematologic cells in the dermis. Bone marrow morphology was consistent with acute myeloid leukemia (M5) and cytogenetic studies revealed t(8;16) and t(17;19) double translocation. Although prognosis of congenital leukemia is known to be dismal, recent reports showed spontaneous remissions. With the fear of chemotherapy-related toxicity, to treat or not to treat may be a dilemma both to parents and pediatricians. We report our experience and review the literature.

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Related in: MedlinePlus

Gross view of the skin. (A, B) There are widespread, scattered, yellowish-colored firm nodules with multiple purpuric macules and papules predominantly on the face and the trunk.
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Figure 1: Gross view of the skin. (A, B) There are widespread, scattered, yellowish-colored firm nodules with multiple purpuric macules and papules predominantly on the face and the trunk.

Mentions: A term male infant weighing 3,360 gram was born to a 32-yr-old woman after uncomplicated pregnancy. There was no history of exposure to radiation, any known teratogens, smoking, drinking, or drug use from his mother. A cesarean section was done for previous section. Gross examination of the infant noted at birth to have an unusual purpuric rash on his whole body looking like "blueberry-muffin" rash (Fig. 1). Physical examination showed no hepatosplenomegaly and there were no dysmorphic features. Skin examination revealed widespread, scattered, yellowish-colored firm nodules with multiple purpuric macules and papules predominantly on the face and proximal extremities with a few present on the trunk. A punch-biopsy of a nodule showed proliferation of atypical hematologic cells in the dermis. Blood count at birth revealed white blood cell count of 173×109/L with 58.8% neutrophils, 5.3% lymphocytes, 26.1% monocytes, and 0.5% eosinophils; hemoglobin of 13.9 g/dL; platelets of 133×109/L. TORCH titers (against toxoplasmosis, cytomegalovirus, herpes simplex virus, rubella, and syphilis) were all negative and blood cultures were also negative. Peripheral blood morphology showed marked leukocytosis with 32% of immature cells and monocytosis. Immunophenotyping showed that blasts were positive for CD14, CD33 and HLA-DR(+). Flow cytometry on the bone marrow showed the blasts to be acute myeloid leukemia (M5) in the French-American-British classification based on the morphologic features and special stains. Bone marrow aspiration and biopsy also showed 90% of leukemic blasts. The results of special stain were peroxidase (+), PAS (-), ANAE with NaF inhibition (+). Cytogenetic analysis revealed 46, XY karyotype with multiple chromosomal defect, t(8;16)(p11;p13.2), t(17;19)(?;q13.3). Serial white blood cell count showed a progressive rise up to 256×109/L with thrombocytopenia of 88×109/L. Leukemia cutis also progressed and it became more pronounced on the face and somewhat hardened. Parents only wanted conservative treatment at first. Three weeks after birth, parents agreed to chemotherapy. Initial chemotherapy was started with daunorubicin, etoposide, and cytarabine, but, he died at 27 days of age.


Congenital acute myeloid leukemia with t(8;16) and t(17;19) double translocation: case presentation and literature review.

Sung TJ, Lee DH, Kim SK, Jun YH - J. Korean Med. Sci. (2010)

Gross view of the skin. (A, B) There are widespread, scattered, yellowish-colored firm nodules with multiple purpuric macules and papules predominantly on the face and the trunk.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2877231&req=5

Figure 1: Gross view of the skin. (A, B) There are widespread, scattered, yellowish-colored firm nodules with multiple purpuric macules and papules predominantly on the face and the trunk.
Mentions: A term male infant weighing 3,360 gram was born to a 32-yr-old woman after uncomplicated pregnancy. There was no history of exposure to radiation, any known teratogens, smoking, drinking, or drug use from his mother. A cesarean section was done for previous section. Gross examination of the infant noted at birth to have an unusual purpuric rash on his whole body looking like "blueberry-muffin" rash (Fig. 1). Physical examination showed no hepatosplenomegaly and there were no dysmorphic features. Skin examination revealed widespread, scattered, yellowish-colored firm nodules with multiple purpuric macules and papules predominantly on the face and proximal extremities with a few present on the trunk. A punch-biopsy of a nodule showed proliferation of atypical hematologic cells in the dermis. Blood count at birth revealed white blood cell count of 173×109/L with 58.8% neutrophils, 5.3% lymphocytes, 26.1% monocytes, and 0.5% eosinophils; hemoglobin of 13.9 g/dL; platelets of 133×109/L. TORCH titers (against toxoplasmosis, cytomegalovirus, herpes simplex virus, rubella, and syphilis) were all negative and blood cultures were also negative. Peripheral blood morphology showed marked leukocytosis with 32% of immature cells and monocytosis. Immunophenotyping showed that blasts were positive for CD14, CD33 and HLA-DR(+). Flow cytometry on the bone marrow showed the blasts to be acute myeloid leukemia (M5) in the French-American-British classification based on the morphologic features and special stains. Bone marrow aspiration and biopsy also showed 90% of leukemic blasts. The results of special stain were peroxidase (+), PAS (-), ANAE with NaF inhibition (+). Cytogenetic analysis revealed 46, XY karyotype with multiple chromosomal defect, t(8;16)(p11;p13.2), t(17;19)(?;q13.3). Serial white blood cell count showed a progressive rise up to 256×109/L with thrombocytopenia of 88×109/L. Leukemia cutis also progressed and it became more pronounced on the face and somewhat hardened. Parents only wanted conservative treatment at first. Three weeks after birth, parents agreed to chemotherapy. Initial chemotherapy was started with daunorubicin, etoposide, and cytarabine, but, he died at 27 days of age.

Bottom Line: A newborn boy was born with multiple subcutaneous nodules and large purpuric papules.With the fear of chemotherapy-related toxicity, to treat or not to treat may be a dilemma both to parents and pediatricians.We report our experience and review the literature.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, College of Medicine, Hallym University Medical Center, Seoul, Korea. neosung@hallym.or.kr

ABSTRACT
Congenital leukemia is uncommon and excluding transient myeloproliferation associated with Down syndrome, makes up approximately 1% of childhood leukemias. A newborn boy was born with multiple subcutaneous nodules and large purpuric papules. Skin biopsy revealed proliferation of atypical hematologic cells in the dermis. Bone marrow morphology was consistent with acute myeloid leukemia (M5) and cytogenetic studies revealed t(8;16) and t(17;19) double translocation. Although prognosis of congenital leukemia is known to be dismal, recent reports showed spontaneous remissions. With the fear of chemotherapy-related toxicity, to treat or not to treat may be a dilemma both to parents and pediatricians. We report our experience and review the literature.

Show MeSH
Related in: MedlinePlus