JUVENILE ONSET CHRONIC MYELOID LEUKAEMIA (JCML) IN A GIRL WITH
THE FAMILIAL FORM OF NEUROFIBROMATOSIS TYPE 1 (NF-1)
Peregud-Pogorzelski
J, Brodkiewicz A, Zajaczek S1, Fydryk J
Ist
Department of Paediatrics, Department of Genetics and Pathology 1,
Pomeranian Medical University, Szczecin, Poland
The case of a 7-year-old
girl suffering from JCML and familial form of NF 1 is described. The
patient was born full-term of the third pregnancy and the third delivery.
Parents were young, healthy and not related to each other. No previous
history of neoplasmatic disorders was found within the family. Grandfather,
mother and older brother were affected by clinically proved NF1. The child
admitted to the Clinic presented with paleness, weakness, apathy and subfebrile
episodes. Physical examination revealed paleness, generalised
lymphadenopathy (max diameter 1 cm), hepatosplenomegaly (up to the iliac
arae). Numerous pigmentation spots (27 cafe au lait maculae- max. diameter
3 x 5 cm) have been observed. Laboratory findings revealed anaemia
(Hb<80g/l), thrombocytopenia (<18 G/L), hyperleukocytosis (179 G/L)
with 5 % blasts in the blood.
Bone marrow aspiration biopsy revealed 14% of blasts. Cytogenetic
studies revealed no Ph1 chromosome. Chest X-ray, CT and brain
MRI examination were normal. Hepatosplenomegaly has been confirmed by
abdominal usg. On ophtalmologic examination Lisch nodules have been found.
Family history, physical and laboratory findings allowed the diagnosis of
JCML and familial NF 1. The treatment consisted of hydroxyurea, 6-MP, and
during the acceleration phase- idarubicin and ARA-C. At 7 months of
treatment no remission was achieved and matched, related bone marrow
transplantation was performed. Two months later early isolated medullary
relapse was diagnosed. Despite the treatment according to BFM 98 protocol
the child died. The authors would like to underline the extremely rare
coexistence of NF-1 and JCML in children and fatal course of JCML (despite
of bone marrow transplantation) in the described case.