title: Aneuploid nucleomegaly of bronchial cells in ataxia-telangiectasia: cytologic recognition in bronchial brushings.
abstract: Ataxia-telangiectasia (AT) is an autosomal recessive disorder of childhood onset characterized by cerebellar ataxia and cutaneous and conjunctival telangiectasias, which affects many systems and organs. One histologic feature of AT is the presence of enlarged dystrophic nuclei, predominantly in satellite cells of sympathetic ganglia and dorsal roots. This paper describes the recognition of nucleomegaly of respiratory cells in bronchial brushings of a 9-year-old patient with AT. The enlarged nuclei displayed smooth nuclear contour, coarse and clumped chromatin granules, and one or two conspicuous nucleoli. The average size was 0.1015 mm in the AT case and 0.0573 mm in control cells. Ploidy analysis demonstrated an aneuploid population of cells with a DNA index of 1.31 and a S-G2M fase of 4.48% in the AT, while the control nuclei showed normal diploid values. To our knowledge, this is the first report of a description of aneuploid nucleomegaly of bronchial cells detected in bronchial smears from a patient with AT. Given that malignant transformations are usually preceded by ploidy alterations, it seems likely that the presence of an aneuploid cell population probably correlates with the increased cancer risk observed in AT patients. Cytopathologists must bear in mind these morphologic features of aneuploid nucleomegaly exhibited by certain cell populations when examining a smear from AT patients. Moreover, this finding may even represent a clue for diagnosis of AT in cases in which the disease has gone unrecognized.
authors.affiliation: Department of Pathology, Hospital de Niños Superiora Sor María Ludovica, La Plata, Argentina.
authors.forename: M C
authors.initials: MC
authors.lastname: Cohen
authors.forename: R
authors.initials: R
authors.lastname: Sánchez-Marull
authors.forename: R
authors.initials: R
authors.lastname: Drut
mesh_terms: D000782:Aneuploidy; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000473:pathology*; D001980:Bronchi / Q000166:cytology* / Q000473:pathology*; D001982:Bronchial Diseases / Q000473:pathology; D018893:Bronchoalveolar Lavage; D002466:Cell Nucleolus / Q000473:pathology*; D002648:Child; D003581:Cytodiagnosis; D006801:Humans; D006984:Hypertrophy / Q000235:genetics; D008297:Male