world cancer report - iarc

Syndrome Gene Chromo- Nervous system Skin Other tissues
some
Neurofibromatosis 1 NF1 17q11 Neurofibromas, MPNST, optic Café-au-lait spots, Iris hamartomas, osseous lesions,
nerve gliomas, astrocytomas axillary freckling phaeochromocytoma, leukaemia
Neurofibromatosis 2 NF2 22q12 Bilateral vestibular schwannomas, - Posterior lens opacities, retinal
peripheral schwannomas, hamartoma
meningiomas, meningioangio-
matosis, spinal ependymomas,
astrocytomas, micro-hamartomas,
cerebral calcifications
von Hippel-Lindau VHL 3p25 Haemangioblastomas - Retinal haemangioblastomas
renal cell carcinoma,
Tuberous sclerosis TSC1 9q34 Subependymal giant cell Cutaneous Cardiac rhabdomyomas,
TSC2 16p13 astrocytoma, cortical angiofibroma adenomatous polyps of the
tubers (“adenoma duodenum and the small intestine,
sebaceum”) cysts of the lung and kidney,
peau de chagrin, lymphangioleiomyomatosis, renal,
subungual angiomyolipoma
fibromas
Li-Fraumeni p53 17p13 Astrocytomas, glioblastomas, - Breast carcinoma, bone and soft
medulloblastomas tissue sarcomas, adrenocortical
carcinoma, leukaemia
Cowden PTEN 10q23 Dysplastic gangliocytoma of the Multiple Hamartomatous polyps of the
(MMAC1) cerebellum (Lhermitte-Duclos), trichilemmomas, colon, thyroid neoplasms, breast
megalencephaly fibromas carcinoma
Turcot APC 5q21 Medulloblastoma - Colorectal cancer
Table 5.17 Major familial tumour syndromes involving the nervous system.
the central canal of the spinal cord. They
manifest preferentially in children and
young adults and usually have an intraventricular
or spinal location. Histologically,
they are cellular, with typical perivascular
rosettes. Spinal ependymomas show a
high frequency of mutations in the neurofibromatosis
gene NF2.
Glioneuronal tumours
This group of brain tumours is less frequent
and generally carries a favourable
prognosis. Some manifest preferentially
in children (desmoplastic infantile astrocytoma/ganglioglioma,dysembryoplastic
neuroepithelial tumour), others preferentially
in adolescents and adults (gangliocytoma,
ganglioglioma, central neuro-
hMLH1 3p21 Glioblastoma Café-au-lait spots Colorectal cancer
hPSM2 7p22
Naevoid basal cell PTCH 9q31 Medulloblastoma Multiple basal Jaw cysts, ovarian fibromas,
carcinoma palmar and skeletal abnormalities
syndrome (Gorlin) plantar pits
268 Human cancers by organ site
cytoma). They often cause a long-term
history of epileptic seizures.
Embryonal tumours
These neoplasms are derived from embryonal
or fetal precursor cells, typically manifest
in children, and are highly malignant
but often respond to radio- or chemotherapy.
In the central nervous system, cerebellar
medulloblastomas are most common.
The peak age at manifestation is 3-6
years; only 20% develop in adults.
Occasionally, they occur in the setting of
inherited cancer syndromes, including
Turcot syndrome (in association with
familial polyposis colon cancer) and
naevoid basal cell carcinoma syndrome
(associated with PTCH germline muta-
tions). Neuroblastomas originate from
migrating neuroectodermal cells targeted
for the adrenal medulla and sympathetic
nervous system, which are the principal
Fig 5.153 Macroscopic image of a medulloblastoma
of the cerebellar vermis, compressing the brainstem.