[Hematologic and clinical features of 3q21q26 syndrome: extremely poor prognosis and association with central diabetes insipidus].
BACKGROUND
3q21q26 syndrome includes chromosomal abnormalities of inv(3)(q21q26), t(3;3) (q21;q26), and ins(3;3)(q26;q21q26). It causes hematological diseases by the leukemogenic mechanism that the enhancer of ribophorin I gene in 3q21 induces the transcription of ecotropic viral integration site-1 gene in 3q26. Recently, it has been proposed that the 3q21q26 syndrome may be preceded by diabetes insipidus (DI), particularly when combined with monosomy 7, and is a unique disease entity.


METHODS
From May 2001 to June 2006, a total of 5 patients with hematologic malignancy were found to have 3q21q26 syndrome and monosomy 7. Laboratory findings, clinical data, and association with DI were investigated.


RESULTS
The rearrangement type of 3q21q26 was inv(3)(q21q26) in four patients and t(3;3)(q21; q26) in one. These patients' French American British types were AML M1, M2, M4 and M7, showing evident dysmegakaryopoiesis. Aberrant antigenic expressions of CD7 and CD56 were observed. The platelet count was relatively high as AML. All the five patients were refractory or in early relapse. Patient 5 was diagnosed with AML M7 20 days after being diagnosed with DI. While DI was well controlled with oral desmopressin, leukemia was refractory to chemotherapy.


CONCLUSIONS
This study supports the recent opinion that 3q21q26 syndrome with monosomy 7 combined with DI is a disease of unique characteristics. In the relation between DI and monosomy 7 or 3q21q26 syndrome, there has been no explanation about how acquired abnormality of hematopoietic cells affects production of DDAVP by neurohormonal cells in hypothalamus. The mechanism needs further study, and this research should contribute to the understanding of genetic roles in leukemia appearing in different forms.
Chung
Hee Jung
HJ
Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
Seo
Eul Ju
EJ
Kim
Kyung Hee
KH
Jang
Seongsoo
S
Park
Chan Jeoung
CJ
Chi
Hyun Sook
HS
Lee
Jung Hee
JH
Lee
Je Hwan
JH
Lee
Kyu Hyung
KH
D000328:Adult; D025063:Chromosome Disorders / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D007446:Chromosome Inversion; D002893:Chromosomes, Human, Pair 3; D020790:Diabetes Insipidus, Neurogenic / Q000150:complications*; D005260:Female; D019337:Hematologic Neoplasms / Q000150:complications*; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009006:Monosomy; D011379:Prognosis; D013577:Syndrome; D014178:Translocation, Genetic