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The disappearing leukaemia syndrome
ABSTRACTS OF A N N U A L MEETING
1980
169
THE DISAPPEARING LEUKAEMIA SYNDROME
H . S M I T H Di,pcrrtm(wt of Hri(wxrtoloyy. Royal B~ishaiic~ Ho.s/7irril T h e Disappearing Leukaemia Syndrome is a myeloblastosis resembling acute leukaemia, which OCCLII'S occasion:ill) in infants with Down's syndrome. I t is usunlly manifest a t birth and lasts Ibr n o more than 3 mth Its nnturc I \ unknown. Three infants with this disorder arc described; in one the trisomic cell line present at birth iilso disnppc;ii-cci CYTOGENETIC ABNORMALITIES FOUND IN FOUR CASES OF LEUKAEMIA
C. M . T. McCA R T H Y B,irharir
C:ytogcvwtic.s Dc;nc~rtfi?<,/lt.~bi"i/(,r Mi.\c'ri(~/)rtlir/c~ fll/J/ic'
//(l.S/Jirt//,\,
So/i/l/
T h e cytogcnetic features o f 4 cases of leukacmia arc described. Two cases arc acute inyclobla\tic Icukaeinia ( A M L ) a n d 2 arc chronic myeloid leukaemia ( C M L ) . O n e o f t h c A M L cases h a s the karyotype 4j3X.t(X:?1) (q22.cl22). dcl 7(pter q32:) and the other 46.XY,dcl 7(pter q22:). del 7(:pl3 qter). T h c progression o f one case o l C M L from IOO",, 46,XY,Ph' positive to 40",, 46,XY,Ph' positive' 60':1, 47,XY,Ph' positive. + 9 , - 17. + i ( 17q) found a t blastic transformation is detailed. In the other case of C M L , translocations involving three (3) chromosomes existed, the karyotype being 46,XX.Phl positive, t( 1;3)(1;9)(q22,p21,q34). T h e similarities between the ciiscs and the involveinent of certain chromosomes are considered. THE USE OF ELECTRODIAGNOSTIC STUDIES IN GENETIC NOSOLOGY
P R O F E S S O R R O B E R T L O V E L A C E C'oliinihiu L'iiirc~r.si/j~. N m YorX Nosological approaches in genetics have bccn most extensively developed i n ncurolopicnl diseases In pal-ticular. monogenic neuromuscular diaorders have been studied extensively in this regard. Classifications of"liarcot-Mai-icTooth Disease, and of the spinal muscular atrophies have been developed using ii misccllany 01' classiticatorq approxhcs. most dcpending o n the ability to quantify some clinical o r sub-clinical fcature o l ' t h e disease in cluc\lion. Qiiantitative electromyography. a n d nerve conduction studies of indcx cases a n d their near relatives. have hccn iiscci to help elucidate the classifrictory questions involved in this group of diseases. This paper explores t h e strengths 01' using such techniques with particular relevance to peripheral ncuromusculai- disease, and some 01' the prcseiiilc dementias. CHROMOSOME BANDING STUDIES IN PATIENTS WITH TESTICULAR TUMOURS
J . M . ANDHISON,0. M C A R S O N , J . MAITtif:WS*, M . K . ROBSON & T . F. SANIII:MAK* Oi/ils<~~,Y//,I' of MrlhoirmiJ Departmm/ of Medicine, St Vinwnf ',s Hospitcil, and * C ' c i i i c w / m / i / u t e , M<,lboi(mc* Improved cytogenetic techniques have shown increasing numbers o f chromosomal hcteroinorphisins. defined ;IS quantitative variations in constitutivc heterochromatin, but having n o apparent phenotypic effect: thcsc have bccn accepted as 'normal' variants. Atkin however observed a n association between increascd atnounis of heterochromatin on chromosome I a n d the development ofgerminal tumours. a n d suggested this t o be ii ciinccr risk ma rkc r. To test this hypothesis, we undertook a study of the lymphocyk chromosomes of 4X males with 1csticuI:ir tumours. using both G- and C-banding techniques a n d compared the results with agc-matched iixilignancy I'rce controls. C-banded areas o n chromosome pairs I, 9, 16 and the Y chromosome were measured atid t h e heterochromatic index cnlculated. Differences between the indices for each cell a n d the me>indilfci-ence f o I c:ich patient and control were calculated a n d compared. Statistically n o significant difference was found in the heterochromatic areas of chromosome I. but thcrc was ;I highly significant difference in the areas o f c h r o m o s o m c 9, with patients having ii much higher indcx than controls. A similar trend was also i'ounci in the heterochromatic areas oi' chromosome 16. Therc wah al\o a n apparent corrclation between t h c degree of tumour malignancy a n d the lieterocliroinatic indices of' chromosome\ 9 and I0 C-BANDING STUDIES IN PATIENTS WITH Ph'
+
CHRONIC GRANULOCYTIC LEUKAEMIA
P. R A J A S E K A R I A H & 0. M . GARSONUnivcrsity of Melbourne Department 01' Mcdicine. St Vincent's Hospital. Fitzroy T h e Philadelphia (Phl) chromosome i n chronic granulocytic leukaeinia ( C C L ) is formed by ii translocaiion between chromosomes 9 and 22, in 95",, of patients. Chromosome 9 also displays considerable variation in its constitutive heterochromatin. In order to investigate a s association between this heteromorphistn and the translocation. IS
1980
169
THE DISAPPEARING LEUKAEMIA SYNDROME
H . S M I T H Di,pcrrtm(wt of Hri(wxrtoloyy. Royal B~ishaiic~ Ho.s/7irril T h e Disappearing Leukaemia Syndrome is a myeloblastosis resembling acute leukaemia, which OCCLII'S occasion:ill) in infants with Down's syndrome. I t is usunlly manifest a t birth and lasts Ibr n o more than 3 mth Its nnturc I \ unknown. Three infants with this disorder arc described; in one the trisomic cell line present at birth iilso disnppc;ii-cci CYTOGENETIC ABNORMALITIES FOUND IN FOUR CASES OF LEUKAEMIA
C. M . T. McCA R T H Y B,irharir
C:ytogcvwtic.s Dc;nc~rtfi?<,/lt.~bi"i/(,r Mi.\c'ri(~/)rtlir/c~ fll/J/ic'
//(l.S/Jirt//,\,
So/i/l/
T h e cytogcnetic features o f 4 cases of leukacmia arc described. Two cases arc acute inyclobla\tic Icukaeinia ( A M L ) a n d 2 arc chronic myeloid leukaemia ( C M L ) . O n e o f t h c A M L cases h a s the karyotype 4j3X.t(X:?1) (q22.cl22). dcl 7(pter q32:) and the other 46.XY,dcl 7(pter q22:). del 7(:pl3 qter). T h c progression o f one case o l C M L from IOO",, 46,XY,Ph' positive to 40",, 46,XY,Ph' positive' 60':1, 47,XY,Ph' positive. + 9 , - 17. + i ( 17q) found a t blastic transformation is detailed. In the other case of C M L , translocations involving three (3) chromosomes existed, the karyotype being 46,XX.Phl positive, t( 1;3)(1;9)(q22,p21,q34). T h e similarities between the ciiscs and the involveinent of certain chromosomes are considered. THE USE OF ELECTRODIAGNOSTIC STUDIES IN GENETIC NOSOLOGY
P R O F E S S O R R O B E R T L O V E L A C E C'oliinihiu L'iiirc~r.si/j~. N m YorX Nosological approaches in genetics have bccn most extensively developed i n ncurolopicnl diseases In pal-ticular. monogenic neuromuscular diaorders have been studied extensively in this regard. Classifications of"liarcot-Mai-icTooth Disease, and of the spinal muscular atrophies have been developed using ii misccllany 01' classiticatorq approxhcs. most dcpending o n the ability to quantify some clinical o r sub-clinical fcature o l ' t h e disease in cluc\lion. Qiiantitative electromyography. a n d nerve conduction studies of indcx cases a n d their near relatives. have hccn iiscci to help elucidate the classifrictory questions involved in this group of diseases. This paper explores t h e strengths 01' using such techniques with particular relevance to peripheral ncuromusculai- disease, and some 01' the prcseiiilc dementias. CHROMOSOME BANDING STUDIES IN PATIENTS WITH TESTICULAR TUMOURS
J . M . ANDHISON,0. M C A R S O N , J . MAITtif:WS*, M . K . ROBSON & T . F. SANIII:MAK* Oi/ils<~~,Y//,I' of MrlhoirmiJ Departmm/ of Medicine, St Vinwnf ',s Hospitcil, and * C ' c i i i c w / m / i / u t e , M<,lboi(mc* Improved cytogenetic techniques have shown increasing numbers o f chromosomal hcteroinorphisins. defined ;IS quantitative variations in constitutivc heterochromatin, but having n o apparent phenotypic effect: thcsc have bccn accepted as 'normal' variants. Atkin however observed a n association between increascd atnounis of heterochromatin on chromosome I a n d the development ofgerminal tumours. a n d suggested this t o be ii ciinccr risk ma rkc r. To test this hypothesis, we undertook a study of the lymphocyk chromosomes of 4X males with 1csticuI:ir tumours. using both G- and C-banding techniques a n d compared the results with agc-matched iixilignancy I'rce controls. C-banded areas o n chromosome pairs I, 9, 16 and the Y chromosome were measured atid t h e heterochromatic index cnlculated. Differences between the indices for each cell a n d the me>indilfci-ence f o I c:ich patient and control were calculated a n d compared. Statistically n o significant difference was found in the heterochromatic areas of chromosome I. but thcrc was ;I highly significant difference in the areas o f c h r o m o s o m c 9, with patients having ii much higher indcx than controls. A similar trend was also i'ounci in the heterochromatic areas oi' chromosome 16. Therc wah al\o a n apparent corrclation between t h c degree of tumour malignancy a n d the lieterocliroinatic indices of' chromosome\ 9 and I0 C-BANDING STUDIES IN PATIENTS WITH Ph'
+
CHRONIC GRANULOCYTIC LEUKAEMIA
P. R A J A S E K A R I A H & 0. M . GARSONUnivcrsity of Melbourne Department 01' Mcdicine. St Vincent's Hospital. Fitzroy T h e Philadelphia (Phl) chromosome i n chronic granulocytic leukaeinia ( C C L ) is formed by ii translocaiion between chromosomes 9 and 22, in 95",, of patients. Chromosome 9 also displays considerable variation in its constitutive heterochromatin. In order to investigate a s association between this heteromorphistn and the translocation. IS