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Myelodysplastic syndromes: Cytogenetic studies of 130 cases
21
Second International Conference on Myeiodysplastic Syndromes
CYTOGENETIC STUDY OF MDS EVOLVING TO AML. Musilova J., Michalov'a,K., Zemanova,Z., and CzechoslovaK MDS NeUWirthOV'a R. Cooperative Group. 1-st Faculty of Dept.Medicine, 3-rd Dept. Clin. and Medicine, Czechoslovakia. Hematol.,Prague, out' of 209 patients wlth MDS our laboratory 40 studied in transformed into AML. subsequently marrow Karyotypes were bone Their compared with the data obtalned in all MDS patients. The clones with abnormal were detected in 28 out karyotypes equal of 40 cases (70X1, i.e. in the all our MDS frequency as in aberrations patients. No specific transition to predicted the future AML. However, the complex karyotypic abnormalities rearrangements and of chromosome 7 wer'e significantly than in the remaining more common aberrations were patients. Followlng frequent: del(5q1, -5, -7, the most studies de1 (7q) and t 8. Repeated were done In 20 patients. In 9 further karyotypic evolution occurred, so that Only eight out of 40 patients entered the leukaemic with a phase normal karyotype.
PROGNOSTICVALUE OF CHROMOSOME ANALYSIS IN MYELODYSPLASTICSYNDROMES M. Torrabadella, T. Vallespl. M.A. Sanz', D. A. JaBn. and C. Sanz’. IrrlguIbIe. A. PuJol. Departments of Haematology. Hospital Vall d’Hebr6n. Barcelona.(‘) Hospital La Fe, Valencla. Spain. Cytogenetlc analyses were carried out In 94 consecutive patlents diagnosed of myelodysplastic syndrome (MDS) over a 8-year period In a single unit. There were 67 males (61%) and 37 females (3990. Mean age was 66 years (range, 16 to 891. A chromosomally abnormal clone was found In 63 out of 94 patients (66%). The most common chromosome abnormalltles were: trlsomy 8 (11 patlent&, 6q- (10 patlentsl, and monosomy 7 or 7q- (10 patlentsl. The overall medlan survlval was 19 months. Normal karyotype. 6qand slngle anomaly correlated wlth a relatively good prognosis (median survlval: 26, 66, and 66 months, respectlvelyl. whereas monosomy 7 or trisomy 8, and complex karyotype were 7q-. related to a poor prognosis (median survival tlme: 13, 4, and 4 months, respectively). Multlvarlate regression analysls showed that the karyotype, categorized in two groups: 11 low-risk patlents (normal chromosomes, deletion 6q and single chromosome abnormality) and 21 high-rlsk patients (monosomy 7 or deletion 79, trisomy 8 and complex chromosome abnormalltles) was the characterlstlc most slgnlflcantly associated wlth survlval (P<0.0001). Our results analysls
MDS.
confirm the Importance of cytogenetlc In the evaluatlon of patients with
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(“IC cl..r,f,c.t,o”,. u”d.r,t.nd,nq oi
They h.“. .l.o l..d to ?? th. nrchrnirr. ,nvolv.d ,” th. of th... pr.l.ukr.m,e di.0rd.r.. th. r..ult. o+ cytog.n.tic .tudi.. p.r+orr.d on 58 Rla, 19 r41?.1, c.11. +rom 130 C.... 04 rIDSI 37 RAEB, .nd 9 RAEBt. ClO”.l cllro.0.c.. 7 C”tlOL. HARS , 19.8%. 48.6%. 28.6% ?? bnorm.lit,.. .ccount.d far 32.1%. r.*,,.ct,“.l”. F”rth.rmor.. and 50% o+ th. +iv. .“bt”....
and wm3t. whersac very complex abnormallti*s that lnvol“.d *or* th*n (iv. C~~OIOSO... w.r. I..” .xclus,v.lv ,n *,tkl d h,gh.r p.rc.ntrg. I” RPIELW the.. two PlDS subtyp.., than 1” RlaE8. Bo”.-.*rrc,w k4,t.h only .bn”rm.l m.t.ph...s w.. mar. frequent I” WEB, CMMoL and RWUt. V.ry complsx Laryotyp.. With r.*rr.ng...nt. I” 100% ..t.ph**.. w.r. O”lV +ounLi ,n RrWB (2.7%) md RAEBt (13.5%). In ~a... that svolved to I”L wtwr. cytop.n.t,c (011 ow-up was PO..,bl., there 6.4.. .,tll.r a” .xp..n.,on o+ ttl. abnormal b.Z”.-..rrOL.l c., 1 pop”l.,t,o” or rdd,t,onel chro.o.‘,m. change. L” a prev,oue1y ib”0rn.l cl.“..
MORPHOLOGIC AND
PROGNOSTIC SIGNIFICANCE OF KARYOTYPE ABNORMALITIES IN DE NOVO MYELODYSPLASTIC SYNDROMES (MDS). Bernasconi P., Alessandrino E.P., Campagnoli C Uccelli E Boni Caldera D., Boifichi M., Mor';a E., Ber?&oni C.. Chair of Hematology University of Pavia. In a four year period (Jan 86 - Jan 91) 108 de novo MDS patients were consecutively studied. The overall incidence of chromosome abnormalities was 69,6%, with the highest occurence in RAEB and in RAEB-t (76% and 100% respectively). Interstitial de1 (5)(q) and de1 (Ill(q) were the only ones associated with a particular FAB MDS subtype, namely RA and ASIA respectively, however other rearrangements correlated with peculiar morphologic From a features. prognostic viewpoint normal karyotypes, de1 (5)(q) and del(lll(q14q231 showed the best survival with no ANLL evolution. Trisomy 8 determined an intermediate prognosis with ANLL progression in a good proportion of patients. Chromosome 5 and/or 7 rearrangements plus additional abnormalities caused the worst survival with an always impending ANLL evolution probability.
Second International Conference on Myeiodysplastic Syndromes
CYTOGENETIC STUDY OF MDS EVOLVING TO AML. Musilova J., Michalov'a,K., Zemanova,Z., and CzechoslovaK MDS NeUWirthOV'a R. Cooperative Group. 1-st Faculty of Dept.Medicine, 3-rd Dept. Clin. and Medicine, Czechoslovakia. Hematol.,Prague, out' of 209 patients wlth MDS our laboratory 40 studied in transformed into AML. subsequently marrow Karyotypes were bone Their compared with the data obtalned in all MDS patients. The clones with abnormal were detected in 28 out karyotypes equal of 40 cases (70X1, i.e. in the all our MDS frequency as in aberrations patients. No specific transition to predicted the future AML. However, the complex karyotypic abnormalities rearrangements and of chromosome 7 wer'e significantly than in the remaining more common aberrations were patients. Followlng frequent: del(5q1, -5, -7, the most studies de1 (7q) and t 8. Repeated were done In 20 patients. In 9 further karyotypic evolution occurred, so that Only eight out of 40 patients entered the leukaemic with a phase normal karyotype.
PROGNOSTICVALUE OF CHROMOSOME ANALYSIS IN MYELODYSPLASTICSYNDROMES M. Torrabadella, T. Vallespl. M.A. Sanz', D. A. JaBn. and C. Sanz’. IrrlguIbIe. A. PuJol. Departments of Haematology. Hospital Vall d’Hebr6n. Barcelona.(‘) Hospital La Fe, Valencla. Spain. Cytogenetlc analyses were carried out In 94 consecutive patlents diagnosed of myelodysplastic syndrome (MDS) over a 8-year period In a single unit. There were 67 males (61%) and 37 females (3990. Mean age was 66 years (range, 16 to 891. A chromosomally abnormal clone was found In 63 out of 94 patients (66%). The most common chromosome abnormalltles were: trlsomy 8 (11 patlent&, 6q- (10 patlentsl, and monosomy 7 or 7q- (10 patlentsl. The overall medlan survlval was 19 months. Normal karyotype. 6qand slngle anomaly correlated wlth a relatively good prognosis (median survlval: 26, 66, and 66 months, respectlvelyl. whereas monosomy 7 or trisomy 8, and complex karyotype were 7q-. related to a poor prognosis (median survival tlme: 13, 4, and 4 months, respectively). Multlvarlate regression analysls showed that the karyotype, categorized in two groups: 11 low-risk patlents (normal chromosomes, deletion 6q and single chromosome abnormality) and 21 high-rlsk patients (monosomy 7 or deletion 79, trisomy 8 and complex chromosome abnormalltles) was the characterlstlc most slgnlflcantly associated wlth survlval (P<0.0001). Our results analysls
MDS.
confirm the Importance of cytogenetlc In the evaluatlon of patients with
Oonti
tloretti
E.,
I . ,I YIrtituto .1.t,tuto
Clin,c. d, di
C.,
M.cc.c,
PI.,
G... a. T.bll lo*, G. M.dlc. - ““,“.r.,t, E..tolog,. - Un,v.r.,tl BiDlog,. . ci.n.t,c. -
P.lkr
G.D.*,
“.nt, d, Pcrug,. d, Perug,. Uni”.r‘,ta
Ca1abre.e
d,
mi.t,
?? r. 1 group o+ h....tOlOg*c.l “y.lody‘plr.t,c .y”dro... di.WdW., clinic.lly ch*r.ct.r,*.* by .,gn. ?? d .ynptoms tt?.t n*y fr..z.d. tll. *n.rt o+ o+ “rdullwy ,n.u‘iic,.“cy. F&B acut. ny.loblr.tic l.“k...,l (Iru). Th. cl.e.,f,c.t,o”. Wh,Ch di”,d.. Plos ,nto +iv. cubt”D.s. 1.
on
thm h.lp+“l prcgn0.i and d..th grcrtw p.thog.n..,. WC rrport bon.-m.rro*
bone-marrow
crllo
+orrulrting
1”
I
rn
tern,
Of
oi MD5 prtirnts .nd di.gn0.i. .“01Yt,o” to mm-.
have a.1~0 proved ,n pr.dictinp m.l,gn.“t fern.
(“IC cl..r,f,c.t,o”,. u”d.r,t.nd,nq oi
They h.“. .l.o l..d to ?? th. nrchrnirr. ,nvolv.d ,” th. of th... pr.l.ukr.m,e di.0rd.r.. th. r..ult. o+ cytog.n.tic .tudi.. p.r+orr.d on 58 Rla, 19 r41?.1, c.11. +rom 130 C.... 04 rIDSI 37 RAEB, .nd 9 RAEBt. ClO”.l cllro.0.c.. 7 C”tlOL. HARS , 19.8%. 48.6%. 28.6% ?? bnorm.lit,.. .ccount.d far 32.1%. r.*,,.ct,“.l”. F”rth.rmor.. and 50% o+ th. +iv. .“bt”....
and wm3t. whersac very complex abnormallti*s that lnvol“.d *or* th*n (iv. C~~OIOSO... w.r. I..” .xclus,v.lv ,n *,tkl d h,gh.r p.rc.ntrg. I” RPIELW the.. two PlDS subtyp.., than 1” RlaE8. Bo”.-.*rrc,w k4,t.h only .bn”rm.l m.t.ph...s w.. mar. frequent I” WEB, CMMoL and RWUt. V.ry complsx Laryotyp.. With r.*rr.ng...nt. I” 100% ..t.ph**.. w.r. O”lV +ounLi ,n RrWB (2.7%) md RAEBt (13.5%). In ~a... that svolved to I”L wtwr. cytop.n.t,c (011 ow-up was PO..,bl., there 6.4.. .,tll.r a” .xp..n.,on o+ ttl. abnormal b.Z”.-..rrOL.l c., 1 pop”l.,t,o” or rdd,t,onel chro.o.‘,m. change. L” a prev,oue1y ib”0rn.l cl.“..
MORPHOLOGIC AND
PROGNOSTIC SIGNIFICANCE OF KARYOTYPE ABNORMALITIES IN DE NOVO MYELODYSPLASTIC SYNDROMES (MDS). Bernasconi P., Alessandrino E.P., Campagnoli C Uccelli E Boni Caldera D., Boifichi M., Mor';a E., Ber?&oni C.. Chair of Hematology University of Pavia. In a four year period (Jan 86 - Jan 91) 108 de novo MDS patients were consecutively studied. The overall incidence of chromosome abnormalities was 69,6%, with the highest occurence in RAEB and in RAEB-t (76% and 100% respectively). Interstitial de1 (5)(q) and de1 (Ill(q) were the only ones associated with a particular FAB MDS subtype, namely RA and ASIA respectively, however other rearrangements correlated with peculiar morphologic From a features. prognostic viewpoint normal karyotypes, de1 (5)(q) and del(lll(q14q231 showed the best survival with no ANLL evolution. Trisomy 8 determined an intermediate prognosis with ANLL progression in a good proportion of patients. Chromosome 5 and/or 7 rearrangements plus additional abnormalities caused the worst survival with an always impending ANLL evolution probability.