PMID- 11091209
OWN - NLM
STAT- MEDLINE
DCOM- 20001213
LR  - 20220129
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 111
IP  - 1
DP  - 2000 Oct
TI  - Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with 
      Langerhans cell histocytosis. AIEOP-Istiocitosi Group.
PG  - 258-62
AB  - The aetiopathogenesis of Langerhans cell histiocytosis (LCH) is still undefined. 
      Constitutional abnormalities in LCH have rarely been reported. One study showed 
      chromosomal instability in lesional cells from three patients. No chromosomal 
      studies are available on peripheral blood lymphocytes. Peripheral blood 
      lymphocytes were analysed for the presence of chromatid and/or chromosomal breaks 
      and structural rearrangements. A fluorescence in situ hybridization (FISH) 
      painting technique was also applied in two cases. Sixteen patients with 
      multisystem (MS, n = 11) or single system (SS, n = 5) LCH were studied. either at 
      the diagnosis (n = 8), during treatment (n = 2) or during follow-up, when 
      asymptomatic (n = 6). Thirteen patients had chromosomal abnormalities. Eleven 
      patients (69%) had chromatid and chromosomal breaks in 7-45% of cells. Overall, 
      chromosome and chromatid breaks were significantly more frequent in the 11 
      patients with MS disease than in the five patients with SS disease: the mean 
      percentage of cells showing chromosome and chromatid breaks was 13.4% in MS 
      patients vs. 6.2% in SS patients (P = 0.003). Chromosomal abnormalities may be 
      found in phytohaemagglutinin (PHA)-stimulated peripheral blood lymphocytes of LCH 
      patients at diagnosis, during the disease course and even during long-term 
      follow-up, more frequently in MS disease. Chromosome instability may be 
      considered as either a basic genetic instability or as a landmark of reaction to 
      an environmental agent (viral?) that, through genome alteration, may play a role 
      in histiocyte proliferation and, in some cases, also in the increased risk of 
      malignancy.
FAU - Scappaticci, S
AU  - Scappaticci S
AD  - Biologia Generale e Genetica Medica, Universita di Pavia, Italy.
FAU - Danesino, C
AU  - Danesino C
FAU - Rossi, E
AU  - Rossi E
FAU - Klersy, C
AU  - Klersy C
FAU - Fiori, G M
AU  - Fiori GM
FAU - Clementi, R
AU  - Clementi R
FAU - Russotto, V S
AU  - Russotto VS
FAU - Bossi, G
AU  - Bossi G
FAU - Arico, M
AU  - Arico M
LA  - eng
GR  - E.0755/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - 0 (Phytohemagglutinins)
SB  - IM
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - *Chromosome Disorders
MH  - Female
MH  - Histiocytosis, Langerhans-Cell/*genetics/immunology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Lymphocyte Activation
MH  - Lymphocytes/*physiology
MH  - Male
MH  - Phytohemagglutinins
EDAT- 2000/11/25 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/11/25 11:00
PHST- 2000/11/25 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/11/25 11:00 [entrez]
AID - bjh2313 [pii]
AID - 10.1046/j.1365-2141.2000.02313.x [doi]
PST - ppublish
SO  - Br J Haematol. 2000 Oct;111(1):258-62. doi: 10.1046/j.1365-2141.2000.02313.x.