Hepatoblastoma and polyposis coli (familial adenomatous polyposis)

Medical and Pediatric Oncology 17:441447 (1989)

PROCEEDINGS OF THE CLINICO-PATHOLOGICAL CONFERENCE AT THE HOSPITAL FOR SICK CHILDREN, GREAT ORMOND STREET, LONDON G.J. D'Angio and Jon Pritchard, Editors

Hepatoblastoma and Polyposis Coli (Familial Adenomatous Polyposis) Marianne Phillips, MRCP, Chire Dicks-Mireaux, Christopher Mitchell, PhD, MRCP, Jon Pritchard,

FRCR, FRCP,

Judith Kingston, MRCP, Marion Malone, MRCPath, Elizabeth Shafford, MRCP, and Lewis Spitz, FRCS

Key words: hepatic tumour, virilisation, metastases

Jon Pritchard,

FRCP

(Consultant Paediatric Oncologist)

This presentation concerns an 18-month-old boy with hepatoblastoma and masculinisation, associated with familial adenomatous polyposis. Dr. Marianne Phillips will present the case. Marianne Phillips, MRCP (Clinical Research Fellow, Paediatric Haematology-Oncology)

LG first presented to his general practitioner at the age of one-and-a-half years with a brief history of constipation and abdominal pain. There were no abnormal clinical findings. He was treated with lactulose and his symptoms settled. He again presented 4 months later with constipation and listlessness and was admitted to the local hospital. On further inquiry he had a 4-month history of frequent erections with a 2-week history of breast development and pubic hair. Investigations revealed a haemoglobin of 6.6 gidl with a hypochromic microcytic blood picture, a total white cell count of 16.9 x 109/1, and platelets grossly raised at 1,037 x 109/l. An abdominal X-ray film confirmed the clinical finding of an abdominal mass, also confirmed by ultrasound scan. The child was transfused with packed cells and transferred to this hospital. The family history is of great significance (Fig. 1). LG is the second child of a 34-year-old man with polyposis coli who underwent a total colectomy in March 1988. The paternal grandfather died of hepatic carcinoma, but it is not known whether the tumour was primary or a metastasis. At the time of admission, LG was miserable and lethargic. He was neither anaemic nor jaundiced. Facial hair and areolar hair, together with Tanner Stage I breast development, were present. The abdomen was dis0 1989 Alan R. Liss, Inc.

tended, with a huge firm mass in the upper and lower right quadrants with a craggy edge. The penis and scrotum were enlarged. The testes were of normal size and he had Tanner Stage 1 pubic hair. The haemoglobin was 11 g/dl, white count 18 X lo9 cellsidl, 73% neutrophils, and platelet count 810 X 109/l. Coagulation was marginally abnormal with a slight prolongation of the kaolin partial thromboplastin time. Liver function tests, blood urea, and electrolytes were normal. Twenty-four-hour urinary steroid and catecholamine excretion were normal. Plasma steroid profile was normal with serum testosterone 1.4 nmolil, cortisol 700 nmol/l, androstenedione 1.1 nmol/ 1, dihydroepiandrostenedione < 0.5 nmol/l, and 17 alphahydroxyprogesterone < 2 nmol/l. Serum a fetoprotein (aFP) was grossly raised at 3,500,000 p.g/l (normal for age