MG-122 Atypical fish pattern consistent with insertion of 5’ CBFB into 16p13 in a case of therapy-related acute myeloid leukaemia
Bibliographic record
Abstract
Background The inv (16) and related t (16;16) resulting in fusion of CBFB gene (16q22) to MYH11 (16p13) are not commonly observed in therapy-related AML (t-AML). Objective To present a case of t-AML with CBFB/MYH11 fusion and rearrangement of chromosome 16 other than the commonly described inv (16) and related t (16;16). Case report A 46-year-old woman presented with t-AML 1.25 years after adjuvant radiation and chemotherapy for rectal carcinoma. Peripheral blood showed marked reduction in neutrophils, 24% blasts and increased lymphocytes and monocytes. Bone marrow aspirates revealed large blasts with abundant cytoplasm, fine nuclear chromatin, occasional deep nuclear folds and prominent nucleoli. Bone core biopsy mainly consisted of blasts and was remarkable for numerous eosinophilic myelocytes and metamyelocytes. Cytogenetic analysis of bone marrow aspirate was interpreted as 46,XX,inv (16)(p13.3q22)[6]/47,idem,+8[14]/48,idem,+6,+8[2]. Interphase FISH analysis using the CBFB break-apart probe showed an atypical abnormal signal pattern of two CBFB fusion signals and one 5’ CBFB probe signal. Metaphase FISH analysis showed an abnormal chromosome 16 with a CBFB fusion signal on one arm and a 5’ CBFB signal on the other arm. The normal 16 homologue showed the expected one CBFB fusion signal. The CBFB/MYH11 fusion transcript type A was detected by RT-PCR. Conclusion The abnormal CBFB pattern observed in this case differs from what is expected for an inv (16) or t (16:16), but can be explained by an insertion of 5’ CBFB into 16p13. This case demonstrates that insertion of 5’ CBFB into 16p13 is another mechanism of producing a CBFB /MYH11 fusion.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".