Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients.

Shwachman-Diamond syndrome is an autosomal-recessive disorder characterised by bone marrow failure and a cumulative risk of progression to acute myeloid leukaemia. The Shwachman-Bodian-Diamond syndrome (SBDS) gene, the only gene known to be causative of the pathology, is involved in ribosomal biogenesis, stress responses and DNA repair, and the lack of SBDS sensitises cells to many stressors and leads to mitotic spindle destabilisation. The effect of ionising radiation on SBDS-deficient cells was investigated using immortalised lymphocytes from SDS patients in comparison with positive and negative controls in order to test whether, in response to ionising radiation exposure, any impairment in the DNA repair machinery could be observed. After irradiating cells with different doses of X-rays or gamma-rays, DNA repair kinetics and the residual damages using the alkaline COMET assay and the γ-H2AX assay were assessed, respectively. In this work, preliminary data about the comparison between ionising radiation effects in different patients-derived cells and healthy control cells are presented.

Cerebellar liponeurocytoma.

Cerebellar liponeurocytoma is a rare neoplasm with distinctive morphologic features. It typically involves the cerebellar hemispheres of middle-aged to older adults. The tumor is composed of a uniform population of neurocytic cells possessing round to oval nuclei and pale to clear cytoplasm. A variable degree of lipidization of the tumor cells is present, lending a resemblance to mature adipose tissue. Immunohistochemistry serves to confirm the neurocytic differentiation of the tumor cells. In the 2007 revision of the World Health Organization classification of central nervous system tumors, cerebellar liponeurocytoma was reclassified as a grade II neoplasm to reflect a higher recurrence rate than was previously appreciated.