Ann Lab Med.  2015 Sep;35(5):544-547. 10.3343/alm.2015.35.5.544.

Immature Teratoma and Subsequent Acute Promyelocytic Leukemia in a Pediatric Patient With XYY Syndrome

  • 1Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Hwasun-gun, Jeollanam-do, Korea.
  • 2Department of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun-gun, Jeollanam-do, Korea.
  • 3Environmental Health Center for Childhood Leukemia and Cancer, Chonnam National University Hwasun Hospital, Hwasun-gun, Jeollanam-do, Korea.
  • 4Brain Korea 21 Plus Project, Chonnam National University Medical School, Gwangju, Korea.


No abstract available.

MeSH Terms

Leukemia, Promyelocytic, Acute*


  • Fig. 1 Radiographical and morphological findings of teratoma and bone marrow study. (A) A coronal magnetic resonance image (MRI) at birth showed a unilateral, large, well-defined, and enhanced mass. (B) A well-circumscribed and irregular-shaped mass was extirpated from left side of the neck (7 cm×5 cm). (C) The tissue biopsy showed an immature teratoma with primitive neuroepithelial rosettes lined by basophilic cells (hematoxylin and eosin stain, ×100). (D) Bone marrow findings at diagnosis showed depleted trilineage cellular component, proliferation of abnormal promyelocytes with large purple granules and irregular-shaped (kidney-shaped or bilobed) nuclei (Wright-Giemsa stain, ×400). (E) High magnification images from (D) disclosed abnormal promyelocytes (Wright-Giemsa stain, ×1,000).

  • Fig. 2 Cytogenetic and molecular studies at diagnosis of acute promyelocytic leukemia. (A) Giemsa-banded karyotype of bone marrow showing 47,XYY chromosomal arrangement. Additional Y (in arrow) and intact chromosomes 15 and 17 are observed. (B) Dual-color FISH with PML-RARA probes demonstrates the presence of PML-RARA fusion (in arrows). (C) Direct sequencing for the confirmation of PML-RARA rearrangement shows that the 396-bp band of M4D contains a fusion transcript of PML exon 4-RARA exon 3 and that the 353-bp band of M8C contains a fusion transcript of PML exon 6-RARA exon 3. The fusion transcript of PML exon 4-RARA exon 3 is a result of alternative splicing of the PML exon 6-RARA exon 3 fusion gene.


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