Fish Identifies A Kat6a/crebbp Fusion Caused By A Crypatientic Inserightional T(8;16) In A Case Of Spontaneously Remitting Congenital Acute Myeloid Leukemia With A Normal Karyotype
Barrett R, Morash B, Roback D, Pambrun C, Marfleet L, Ketterling RP, Harrison K, and Berman JN. FISH identifies a KAT6A/CREBBP fusion caused by a crypatientic inserightional t(8;16) in a case of spontaneously remitting congenital acute myeloid leukemia with a normal karyotype. Pediatr Blood Cancer. 2017; 64:e26450. doi: 10.1002/pbc.26450.
View Original Source →Case Details
Disease Location
Skin/bone marrow
Personal Characteristics
Full-term female infant
Clinical Characteristics
Was noted at birth to have numerous blue, maculopapular skin lesions over the face, trunk, and extremities. Dermatological examination revealed 20–30 raised, nonblanching blue and purple lesions dispersed over the trunk, as well as two prominent blue papules over the superior aspect of the scalp. Peripheralbloodsmeardemonstrated neutrophilia and monocytosis with occasional circulating blasts (2.4%) two skin biopsies were consistent with myeloid sarcoma a bone marrow aspiration, performed on day 13 of life was consistent with acute m4 acute myeloid leukemia metaphase fish demonstrated that the single kat6a/crebbp fusion signal was present on distal 16p with kat6a(myst3)
Remission Characteristics
The skin lesions improved and spontaneously resolved over the next several months. At the age of 5 months, the patient had a normocellular bone marrow with tri- lineage hematopoiesis and following examination of 500 interphase nuclei using dual-fusion fish probes, no evidence of the patient’s known kat6a/crebbp fusion.
Treatment & Mechanisms
Proposed Remission Mechanisms
Not discussed
Clinical Treatment
Biopsy