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A nice case study
Here's my 'empty' tree...
Cytogenetic Diagnosis:
42,XY,der(2)t(2;5)(p21;p13),-5,-7,der(8)t(?7;8)(p15;p23)ins(8;15)(p2
3;q?26q?22),-15,der(17)
ins(17;?)(q11.1;?),-18,-20,+mar[8]/42,idem,-der(17),+der(17)del(17)(
p11.2)ins(17;?)(q11.1;?)[2].
ish
der(2)(D5S721,D5S23+),der(8)(PML+),der(17)1ns(17)(TP53+,D17Z1+,RARA+
),der(17)del (17)ins(17)(TP53-,D17Z1+,RARA+).nuc ish
5p15.2(D5S721,D5S23x2),5q31(EGR1x1)[52/200],
7p11.1-q11.1(D7Z1),7q31(D7S522x1)[69/200],17p13.1(TP53x1),17p11.1-
q11.1(D17Z1x2) [26/200],15q24(PMLx2)17q21(RARAx2)[200]
The hypodiploid complex karyotype seen in this study, in particular with del(5q), deletion or monosomy 7q, del(17p)/TP53, and monosomy 20, is consistent with myeloid disorder. The presence of multiple aberrations, including deletions of 7q and TP53, is indicative or evolution and are adverse prognostic indicators. Correlation with other clinical and laboratory findings and follow-up studies are recommended to monitor patient status.
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Married, father of three daughters; now 46; diagnosed w/ Major form MDS 6/18/2013; had low counts across the board; Multiple chromosome abnormalities; Finished 2nd round Dacogen 9/13; SCT - Oct. 31, 2013; Sibling match 10/10  ; 5.5% blasts down to 3%, now 1% (post BMT)
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