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. 2006 Feb;43(2):e8. doi: 10.1136/jmg.2005.034256

Table 5 Tumours in patients with NF1 microdeletions.

No. of patients Multiple SC neurofibromas Plexiform neurofibromas MPNST Paraspinal neurofibromas Optic glioma Other
Kayes et al7,13 5 5 5 1 1
Wu et al28 4 3 1 2 Cerebellar neuroblastoma
Leppig et al17* 2 2 1 1
Leppig et al16 6 5 2 Peritoneal neurofibrosarcoma; cerebellar medulloblastoma
Tonsgard et al3 5 5 3
Wu et al29 2 2 1
Ainsworth et al8 3 2 1
Van Asperen et al26; Cnossen et al4 5 4 1 1 1
Valero et al25 6 5 5‡ 1 1 Astrocytoma type I; malignant mediastinal neurilemmoma
Upadhyaya et al24 18 3 2 1 1 1
Rasmussen et al21 5 4 Hypothalamic glioma
Riva et al23 7 4 2
Ruggieri et al 2000 1 1 1 1
Lopez‐Correa et al18,19 20 14 2 3
Dorschner et al10 9 8 5 1 1 2
Jenne et al12 1 1
Oktenli et al20 1 1
Venturin et al27 14 2 1 Thalamic hamartoma
DeRaedt et al31 9 9
Kehrer‐Sawatzki et al14 16 13 2 2 1 Astrocytoma
Our patients 6 5 1 1
Total 145 89 34 19 8 8

*Peritoneal neurofibrosarcoma included in the original case description by Kaplan and Rosenblatt36; †includes three patients published in Wu et al,30 and three patients from Leroy et al35; ‡three orbital.