Diabetes insipidus as first manifestation of acute myeloid leukaemia with EVI-1-positive, 3q21q26 syndrome and T cell-line antigen expression: what is the EVI-1 gene role?
Two cases of acute myeloid leukaemia (AML) with CD2 and CD7 expression associated with diabetes insipidus (DI) as the initial symptom are presented. Both patients had t(3;3)(q21;q26) associated with monosomy 7 and EVI-1 overexpression. No neurohypophysis infiltration was evident. One patient died during induction chemotherapy, the other did not respond to therapy and died with persistent DI. Our findings further support the existence of a distinct AML entity characterized by the presence of DI, abnormalities of chromosome 3q, dysmegakaryopoiesis and poor outcome, and provide evidence of EVI-1 gene involvement. The possible role of chromosome 3q26 abnormalities in determining this peculiar clinical-biological association is emphasized.
Breccia
Massimo
M
Dipartimento di Biotecnologie Cellulari ed Ematologia, University La Sapienza, Via Benevento 6, Rome, Italy. mbreccia@hotmail.com
Petti
Maria C
MC
Ottaviani
Emanuela
E
Mancini
Marco
M
D'Elia
Gianna Maria
GM
Mecarocci
Sergio
S
Alimena
Giuliana
G
D000208:Acute Disease; D000328:Adult; D019011:Antigens, CD7 / Q000378:metabolism; D018801:CD2 Antigens / Q000378:metabolism; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D003919:Diabetes Insipidus / Q000209:etiology*; D017809:Fatal Outcome; D005260:Female; D015870:Gene Expression; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D000074008:MDS1 and EVI1 Complex Locus Protein; D008297:Male; D009006:Monosomy; D011519:Proto-Oncogenes; D013577:Syndrome; D014157:Transcription Factors; D014178:Translocation, Genetic / Q000235:genetics
D019011:Antigens, CD7; D018801:CD2 Antigens; D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D014157:Transcription Factors