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Old Wed Mar 5, 2014, 04:10 PM
Ann G Ann G is offline
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Join Date: Feb 2014
Posts: 4
I received the final report of my mom's BMB and as you can imagine I don't understand it fully but am hoping to get some feedback from anyone who may have knowledge of this. Under "Karyotype" it reads:

45-47, XX, t(1;15) (q25;q22), add (4) (q21), del (i)(p13), +11, add (11) (p11.2), de 1(11) (q13), -17, -10, +20, del(20) (q11.2q13.3) [cp9]/46,XX[11]
Interpretation: ABNORMAL FEMALE KARYOTYPE, NEAR-DIPLOID, COMPLEX, SEE COMMENT

Comment: Nine cells analyzed are cytogenetically abnormal and demonstrate multiple numerical and structural clonal anomalies in varying combinations as summarized in the above karyotype signature, which is a composite. Among the anomalies present are a reciprocal translocation between the middle long arm of chromosomes 1 and the middle long arm of chromosome 15; additional chromatin on the long arm of chromosome 4 not identifiable by B-banding pattern; a deletion in the proximal short arm of chromosome 9; tirsomy 11 with structural anomalies involoving two of the homologues, including a proximal deletion in the long arm; monosomy 17; and the presence of a 20q-minus anomaly. The remaining cells are cytogenetically normal.
This karyotpye is consistent with a high-grade myelodysplastic syndrome or myeloproliferative disorder other than CML, or with overt AML. In the IPSS-R MDS Cytogenetic Scoring System, this karyotype is in the very poor prognostic subgroup. In the current WHO classification it is presumptive evidence of myelodysplasia in the setting of persistent cytopenia of undetermined origin but in the absence of definitive morphologic criteria and is sufficient for diagnosis of AML with myelodysplasia-related changes when the blast count is 20% or greater. Correlation with clinical and morphologic findings is required for further integration of these results.

I thank anyone for taking the time to read the above and pass along their wisdom and insight.
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Thank you & God Bless, Ann G.
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