Sm_mary There is a well-known raised risk of leukaemia in children with neurofibromatosis type 1 (NF-1).We carried out the first detailed population-based study of leukaemia and non-Hodgkin lymphoma (NHL) associated with NF-I in order to estimate the risk and elucidate the relationship between these conditions. Over the 17 year study period there were five cases of chronic myelomonocytic leukaemia (CMML) in patients with NF-1 (relative risk 221; 95% CI 71-514), 12 cases of acute lymphoblastic leukaemia (ALL) (relative nrsk 5.4; 95% CI 2.8-9.4) and five cases of NHL (relative risk 10.0; 95% CI 3.3-23.4). Marrow cytogenetics could be reviewed for seven patients. Specific abnormalities found were monosomy 21 in a child with CMML and 7p+, 17p-in a child with ALL. No abnormalities were reported of 17q, which includes the NFI gene. CMML occurred predominantly in boys, who also had a family history of NF-1. ALL and NHL were more often found in children with no previous family history.
Chromosome analysis on CLL-cells from 649 patients revealed clonal changes in 311 cases (48%). The most common abnormalities were trisomy 12 (n = 112), and structural changes on the long arm of chromosome 13 (n = 62), most of them interstitial deletions or translocations involving 13q14, the site of the retinoblastoma gene. Complex karyotypes were associated with poor prognosis, although karyotypic changes rarely develop during the course of the disease. Among patients with single chromosomal abnormalities those with trisomy 12 had a poor survival, whereas those with structural changes on chromosome 13 had as good a prognosis as patients with a normal karyotype.
We describe 2 karyotypically male infants with terminal deletion of 10q and mental retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY, del(10)(q26.1)] had female external genitalia; the other [karyotype 46,XY,-10,+der(10)t (10;16)(q26.2;q21)] had an intersex phenotype. Of 8 males previously reported with terminal 10q deletion as the major or only cytogenetic abnormality, 2 had an intersex phenotype, and the others all had combinations of cryptorchidism, micropenis, and hypospadias. Terminal 10q deletions appear to be strongly associated with abnormal male genital development, and should be specifically searched for in the cytogenetic workup of such cases.
Examination under anaesthesia at 4 months of age showed a perforation of the right cornea with a prolapsed iris. The corneal opacity in the left eye was at the level of the posterior stroma. In addition, there were peripheral synechiae and collarette adhesions, retinoscopy showed 10 dioptres of myopia, and examination of the fundus showed a myopic disc. The lens was clear and intraocular pressures were normal.At 8 months of age-her height and weight were below the 3rd centile and her early developmental milestones were within normal limits allowing for the degree of visual handicap. In addition, her skin lesions were much less obvious.Cranial CT scan was normal apart from some enlargement of the third ventricle. Steroid sulphatase activity was present at a normal female level.
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