title: Typical essential thrombocythaemia does not express bcr-abelson fusion transcript.
abstract: Essential thrombocythaemia (ET) is a chronic myeloproliferative disorder (MPD) characterized by an elevated platelet count and no identifiable underlying primary cause. According to the diagnostic criteria of the Polycythemia Vera Study Group (PVSG), ET lacks features diagnostic for other MPDs, including the Philadelphia chromosome (Ph) or bcr-abl rearrangement. Recently, some authors have reported bcr-abl transcript positivity in ET patients, but these findings remain controversial. The aim of this study was to investigate whether the bcr-abl transcript could be found in ET patients and to verify the hypothesis of a new ET variant. ET patients (n = 121) with a median age at diagnosis of 55 years were enrolled. The bcr-abl transcript status was examined by multiplex reverse transcription-polymerase chain reaction. Only two cases were positive for bcr-abl, one of which had the Ph at diagnosis. The positive bcr-abl transcript was associated, in both cases, with mild basophilia at diagnosis. After a median follow-up of 43 months (0-309 months), two patients in the bcr-abl-negative group developed Ph and bcr-abl-negative acute myeloid leukaemia (AML). In contrast, one of the two patients in the bcr-abl-positive group died from AML 13 years after diagnosis. In conclusion, our data on a large group of patients shows the rarity of the bcr-abl transcript in well-established ET. However, a subset of patients with apparent ET and basophilia may express the transcript and may constitute a novel entity intermediate between chronic myeloid leukaemia (CML) and typical ET. A prospective study is warranted in order to define better the clinical and biological characteristics of bcr-abl-expressing ET.
authors.affiliation: Service d'Hématologie, Service d'Hématologie Biologique, Département de Biostatistique et d'Informatique Médicale, and Laboratoire de Cytogénétique, Hôpital Necker Enfants-Malades, Paris, France. damajg@marseille.fnclcc.fr
authors.forename: G
authors.initials: G
authors.lastname: Damaj
authors.forename: E
authors.initials: E
authors.lastname: Delabesse
authors.forename: C
authors.initials: C
authors.lastname: Le Bihan
authors.forename: V
authors.initials: V
authors.lastname: Asnafi
authors.forename: M
authors.initials: M
authors.lastname: Rachid
authors.forename: F
authors.initials: F
authors.lastname: Lefrère
authors.forename: I
authors.initials: I
authors.lastname: Radford-Weiss
authors.forename: E
authors.initials: E
authors.lastname: Macintyre
authors.forename: O
authors.initials: O
authors.lastname: Hermine
authors.forename: B
authors.initials: B
authors.lastname: Varet
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001491:Basophils / Q000473:pathology; D020732:Cytogenetic Analysis; D005260:Female; D005500:Follow-Up Studies; D016044:Fusion Proteins, bcr-abl / Q000097:blood*; D006801:Humans; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013920:Thrombocythemia, Essential / Q000209:etiology* / Q000276:immunology
chemical_list: D016044:Fusion Proteins, bcr-abl