BCR::ABL1 fusion (Philadelphia chromosome)
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-BCR-ABL1 |
|---|---|
| Тип | Біомаркер |
| Синоніми | BCR-ABL1 fusion / Ph chromosomeФіладельфійська хромосома (BCR::ABL1) |
| Статус | переглянуто 2026-04-26 | очікує клінічного підпису |
| Хвороби | Не вказано |
| Джерела | SRC-ELN-CML-2020 SRC-ESMO-CML-2017 |
Дані про біомаркер
| Тип біомаркера | gene_fusion |
|---|---|
| Вимірювання | MethodMulti-modal: karyotype (cytogenetics) for Ph-chromosome detection, FISH for BCR/ABL1 break-apart confirmation, qPCR (RT-qPCR with international scale) for transcript quantification + monitoring. NGS RNA-fusion panels increasingly used as one-step alternative. Unitscategorical (positive | negative); transcript IS% Typical samplebone marrow aspirate (preferred) or peripheral blood |
| Пов’язані біомаркери | BIO-BCR-ABL1-T315I |
Нотатки
This entity was authored 2026-04-26 to fix a broken reference from ind_b_all_1l_ph_neg.yaml (excluded BIO-BCR-ABL1 to define Ph-negative B-ALL inclusion), per the `docs/BIOMARKER_CATALOG.md` audit. Sourced to ELN/ESMO CML guidelines which establish the BCR-ABL1 detection methodology + IS% reporting standard. Follow-up clinical-content work (separate PRs): - Author SRC-NCCN-ALL-2025 (currently no ALL-specific source in KB). - Author CML 1L Indications (currently no CML disease entity). - Wire Ph-positive B-ALL TKI regimens (imatinib / dasatinib / ponatinib + chemo / blinatumomab combos).
Де використовується
Indications
IND-B-ALL-1L-PH-NEG- IND-B-ALL-1L-PH-NEG
Questionnaires
QUEST-B-ALL-1L-STUB- B-Lymphoblastic Leukemia/Lymphoma — first line
Біомаркер
BIO-BCR-ABL1-E255K- BCR::ABL1 E255K nilotinib-resistance mutationBIO-BCR-ABL1-F317L- BCR::ABL1 F317L resistance mutationBIO-BCR-ABL1-T315I- BCR::ABL1 T315I gatekeeper mutationBIO-BCR-ABL1-V299L- BCR::ABL1 V299L dasatinib-resistance mutation
Клінічна застосовність
BMA-BCR-ABL1-E255K-CML- BCR-ABL1 E255K/V is a P-loop mutation conferring strong resistance to imatinib and reduce...BMA-BCR-ABL1-F317L-BALL- F317L in Ph+ B-ALL — same kinase-domain consequence as in CML: dasatinib resistance with...BMA-BCR-ABL1-F317L-CML- BCR-ABL1 F317L confers resistance to dasatinib but retains sensitivity to nilotinib, bosu...BMA-BCR-ABL1-P190-BALL- Ph+ B-ALL (typically p190) requires TKI-incorporating regimens. Modern trials (D-ALBA, Fo...BMA-BCR-ABL1-P210-BALL- p210 BCR-ABL1 in B-ALL (~30% of adult Ph+ ALL, much rarer in pediatric) — needs careful d...BMA-BCR-ABL1-P210-CML- BCR-ABL1 p210 (e13a2/e14a2) defines chronic-phase CML and is the paradigm targeted-therap...BMA-BCR-ABL1-T315I-BALL- T315I in Ph+ B-ALL — same biological consequence as in CML: pan-resistance to 1st/2nd-gen...BMA-BCR-ABL1-T315I-CML- BCR-ABL1 T315I is the gatekeeper mutation conferring pan-resistance to imatinib, dasatini...BMA-BCR-ABL1-V299L-CML- BCR-ABL1 V299L confers resistance to dasatinib and bosutinib but retains sensitivity to n...