title: Gaucher disease diagnosed after bone marrow trephine biopsy - a report of two cases.
abstract: The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy. We present the cases of two patients in whom Gaucher disease was suspected because of the discovery of Gaucher cells in trephine biopsy, and subsequently confirmed via enzymatic and molecular investigations.
authors: Department of Hematooncology, Medical University of Lublin, Poland. besokolowska@o2.pl
authors: Bożena
authors: B
authors: Sokołowska
authors: Danuta
authors: D
authors: Skomra
authors: Barbara
authors: B
authors: Czartoryska
authors: Waldemar
authors: W
authors: Tomczak
authors: Anna
authors: A
authors: Tylki-Szymańska
authors: Tomasz
authors: T
authors: Gromek
authors: Anna
authors: A
authors: Dmoszyńska
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000378:metabolism; D015214:Antigens, Differentiation, Myelomonocytic / Q000378:metabolism; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology*; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000473:pathology*; D006801:Humans; D008297:Male; D000097382:CD68 Molecule
chemical_list: D015703:Antigens, CD; D015214:Antigens, Differentiation, Myelomonocytic; C067980:CD68 antigen, human; D000097382:CD68 Molecule