Cancer Family
Bone Marrow Neoplasm
CI-CAN-00000093Explore in graph →
Non-malignant1,034 active trials28 approved drugs633 evidence items
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Cancer Family
CI-CAN-00000093Explore in graph →
Variants & evidence
1,124 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| ABL1 M388L1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID4707In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ABL1 M472I1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID4723In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ABL1 Non-P-Loop Mutation2 | ||||||||
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Does Not Support Resistance | 3 | accepted | EID6337In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and BCR-ABL fusions, were treated with bosutanib monotherapy. Among 115 patients with mutational analysi… (full text at CIViC) PMID 21865346 · Cortes et al., 2011 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Does Not Support Resistance | 3 | accepted | EID6998This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretreated with imatinib aimed at evaluating the efficacy of bosutanib monotherapy. All patients had chro… (full text at CIViC) PMID 22371878 · Khoury et al., 2012 · Open in CIViC | civic |
| ABL1 P441L1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID4716In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ABL1 P480L1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID4724In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ABL1 P-Loop Mutation3 | ||||||||
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Does Not Support Resistance | 3 | accepted | EID6336In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and BCR-ABL fusions, were treated with bosutanib monotherapy. Among 115 patients with mutational analysi… (full text at CIViC) PMID 21865346 · Cortes et al., 2011 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Does Not Support Resistance | 2 | accepted | EID6997This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretreated with imatinib aimed at evaluating the efficacy of bosutanib monotherapy. All patients had chro… (full text at CIViC) PMID 22371878 · Khoury et al., 2012 · Open in CIViC | civic |
| Imatinib | Chronic Myeloid Leukemia, BCR-ABL1 Positive | |||||||
| ABL1 S417Y1 | ||||||||
| Imatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Resistance | 2 | rejected | EID8089In this study, patients on imatinib monotherapy were monitored for ABL1 kinase domain variants in BCR-ABL1 fusions amplified from peripheral blood RNA. Among 64 patients initially in late-chronic phas… (full text at CIViC) PMID 12623848 · Branford et al., 2003 · Open in CIViC | civic |
| ABL1 S438C1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID4435In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ABL1 T315I4 | ||||||||
| Asciminib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11225In phase 1, dose-escalation trial 141 patients with chronic-phase chronic myeloid leukemia (CML) and 9 patients with accelerated-phase CML who had previously taken at least two ATP-competitive tyrosin… (full text at CIViC) PMID 31826340 · Hughes et al., 2019 · Open in CIViC | civic |
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | rejected | EID6284In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expressed p210 BCR-ABL fusion in Ba/F3 cells using N-ethyl-N-nitrosourea mutagenesis. Resulting clones were … (full text at CIViC) PMID 16772610 · Bradeen et al., 2006 · Open in CIViC | civic |
| Nilotinib | Chronic Myeloid Leukemia, BCR-ABL1 Positive | |||||||
| ABL1 TKD Mutation4 | ||||||||
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Does Not Support Resistance | 3 | accepted | EID6335In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and BCR-ABL fusions, were treated with bosutanib monotherapy. Among 115 patients with mutational analysi… (full text at CIViC) PMID 21865346 · Cortes et al., 2011 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Does Not Support Resistance | 3 | accepted | EID6996This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretreated with imatinib aimed at evaluating the efficacy of bosutanib monotherapy. All patients had chro… (full text at CIViC) PMID 22371878 · Khoury et al., 2012 · Open in CIViC | civic |
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 Positive | |||||||
| ABL1 V289I1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID4697In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ABL1 V379I1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Does Not Support Resistance | 1 | accepted | EID4704In this phase II multinational study, patients with accelerated phase CML and BCR-ABL fusions were treated with dasatinib monotherapy. Response rate among 60 imatinib-resistant patients with BCR-ABL m… (full text at CIViC) PMID 17264298 · Guilhot et al., 2007 · Open in CIViC | civic |
| ABL1 Y232S1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID4688In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ABL1 Y342H1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID4698In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ABL1 Y393C1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | — | submitted | EID4708In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ASXL1 EXON 12 MUTATION1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1379In patients with de novo AML who received intensive chemotherapy, ASXL1 mutations (N=51) were associated with shorter overall (P<0.001) and event free survival (P=0.012) compared to ASXL1 wild-type (N… (full text at CIViC) PMID 23018865 · Schnittger et al., 2013 · Open in CIViC | civic |
| ASXL1 Mutation7 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID1513Patients with Acute Myeloid Leukemia showed an synergistic mortality rate with ASXL1 and SRSF2 co-mutations such that individual mutations of either ASXL1 or SRSF2 resulted in ~20% probability of surv… (full text at CIViC) PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID451In a meta-analysis of six studies totalling 3311 patients with non-M3 acute myeloid leukemia, those with mutations in ASXL1 had worse overall survival than wild-type patients (Hazard ratio 1.86, 95% C… (full text at CIViC) PMID 25308295 · Shivarov et al., 2015 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | |||||||
| BAX mutation1 | ||||||||
| Venetoclax | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Resistance | 2 | submitted | EID12423BAX mutation was found in AML samples that were refractory to venetoclax. In in vitro experiments, BH-3 mimetics enriches for BAX mutation. Deficiency of BAX impairs efficacy of BH-3 mimetics targetin… (full text at CIViC) PMID 36219880 · Moujalled et al., 2023 · Open in CIViC | civic |
| BCL2L11 Alternative splicing1 | ||||||||
| Imatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 4 | submitted | EID9699Primary imatinib resistance is caused by a deletion polymorphism in intron 2 (see EID 1280 and 1281). An in vitro study shows that the deletion biases BIM splicing from exon 4 to exon 3. Adding ASOs t… (full text at CIViC) PMID 29100409 · Liu et al., 2017 · Open in CIViC | civic |
| BCL2L11 Deletion Polymorphism2 | ||||||||
| Imatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Supports Resistance | 4 | accepted | EID1280DNA sequencing was performed in five Ph+ CML samples with sensitivity or resistance to imatinib. A structural variation in BIM2 (BCL2L11) with an identical 2,903-bp genomic deletion was identified in … (full text at CIViC) PMID 22426421 · Ng et al., 2012 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID9701In a clinical study including 200 patients, deletion polymorphism is not significantly associated with resistance to imatinib (p = 0.116). PMID 25295932 · Chen et al., 2014 · Open in CIViC | civic |
| BCOR Mutation1 | ||||||||
| (prognostic) | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID7450Multivariate analysis on 354 MDS patients including age, International Prognostic Scoring System, transfusion dependency, and mutational status confirmed a significant inferior OS to patients with a B… (full text at CIViC) PMID 24047651 · Damm et al., 2013 · Open in CIViC | civic |
| ABL1 Fusion13 | ||||||||
| (diagnostic) | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Diagnostic | A | Supports Positive | 4 | accepted | EID220In this 2010 review, the authors highlighted the central diagnostic and pathogenic role of the BCR::ABL1 fusion gene in Chronic Myeloid Leukemia (CML), emphasizing that its presence is the characteriz… (full text at CIViC) PMID 20537386 · An et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with BCR-ABL1 | Diagnostic | B | Supports Positive | 4 | accepted | EID12046In this 2007 study, the authors identified 38 cases of t(9;22)(q34;q11), also known as Philadelphia positive (Ph+), acute leukemia of myeloid origin. However, 18 cases were excluded as they displayed … (full text at CIViC) PMID 17369142 · Soupir et al., 2007 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with BCR-ABL1 | Diagnostic | ||||||
Data updated 10 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| Predictive |
| C |
| Supports Resistance |
| 2 |
| accepted |
EID8094In this study, patients on imatinib monotherapy were monitored for ABL1 kinase domain variants in BCR-ABL1 fusions amplified from peripheral blood RNA. Of 14 patients who started the study in late chr… (full text at CIViC) PMID 12623848 · Branford et al., 2003 · Open in CIViC |
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| Predictive |
| D |
| Supports Resistance |
| 3 |
| rejected |
EID6195In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expressed p210 BCR-ABL fusion in Ba/F3 cells using N-ethyl-N-nitrosourea mutagenesis. Resulting clones were … (full text at CIViC) PMID 16772610 · Bradeen et al., 2006 · Open in CIViC |
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| Ponatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11226In a phase 2, dose-reduction trial, 282 patients were enrolled who had previously been treated with at least 2 prior TKIs or had a T315I mutation. Efficacy was assessed on an interim analysis based on… (full text at CIViC) PMID 34407543 · Cortes et al., 2021 · Open in CIViC | civic |
| Predictive |
| B |
| Does Not Support Resistance |
| 3 |
| accepted |
EID6311This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myeloid leukemia (chronic-phase), patients with mutations in the BCR-ABL gene fusion kinase domain from … (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC |
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| Nilotinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | B | Does Not Support Resistance | 3 | accepted | EID6342In this open-label, phase II registration trial, patients that were imatinib resistant (n = 192) or intolerant (n = 89) underwent nilotinib monotherapy. Prior to nilotinib treatment, 105 and 9 patient… (full text at CIViC) PMID 19652056 · Hughes et al., 2009 · Open in CIViC | civic |
| Diagnostic |
| B |
| Supports Positive |
| 3 |
| accepted |
EID450Among patients with AML, those with mutations in ASXL1 were more likely to have the AML with myelodysplasia-related changes (AML-MRC) subtype. PMID 25412851 · Ohgami et al., 2015 · Open in CIViC |
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| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1378In older patients (>59 years) with cytogenetically normal acute myeloid leukemia classified as ELN favorable, multivariate analysis identified ASXL1 mutations (12/99 patients) were associated with low… (full text at CIViC) PMID 22031865 · Metzeler et al., 2011 · Open in CIViC | civic |
| 〃 | Primary MyelofibrosisALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1508An ASXL1 mutation, especially in conjunction with DNMT3A and EZH2 mutations, results in a fourfold increase in resistance to treatment with ruxolitinib and a reduced time to treatment discontinuation … (full text at CIViC) PMID 26124496 · Patel et al., 2015 · Open in CIViC | civic |
| 〃 | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID6942In a study of 439 patients with myelodysplastic syndrome, patients with ASXL1 mutations (N=63) had worse overall survival than wildtype patients (N=376) (P=0.003 univariate). This difference was also … (full text at CIViC) PMID 21714648 · Bejar et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID449In patients with acute myeloid leukemia, in a univariate analysis those with mutations in ASXL1 had worse overall survival than wild-type. PMID 25412851 · Ohgami et al., 2015 · Open in CIViC | civic |
| Supports Positive |
| 4 |
| accepted |
EID12047In this 1996 study, the authors identified 11 cases of t(9;22)(q34;q11), also known as Philadelphia chromosome [BCR::ABL1], positive acute myeloid leukaemia (AML) from approximately 700 cases that had… (full text at CIViC) PMID 8952155 · Cuneo et al., 1996 · Open in CIViC |
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| 〃 | Acute Myeloid Leukemia with BCR-ABL1 | Diagnostic | B | Supports Positive | 4 | accepted | EID12048In this 2010 study, the authors included 5876 acute myeloid leukaemia (AML) cases with successful karyotype analysis. The cytogenetic aberration t(9;22)(q34;q11) [known to result in a BCR::ABL1 fusion… (full text at CIViC) PMID 20385793 · Grimwade et al., 2010 · Open in CIViC | civic |
| (prognostic) | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Prognostic | B | Supports N/A | 4 | submitted | EID12434Whole-genome sequencing of single-cell-derived hematopoietic clones from chronic myeloid leukemia (CML) patients revealed that the BCR::ABL1 fusion is acquired 3 to 14 years prior to clinical diagnosi… (full text at CIViC) PMID 40205062 · Kamizela et al., 2025 · Open in CIViC | civic |
| (diagnostic) | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12526In this 2016 study, the authors analyzed 398 newly diagnosed Chronic Myeloid Leukemia (CML) patients, identifying 12 (3%) cases that lacked the Philadelphia (Ph) chromosome by conventional cytogenetic… (full text at CIViC) PMID 28404889 · Luatti et al., 2017 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12589In this 2009 study, the authors included 336 chronic myeloid leukemia (CML) patients at diagnosis, of which 25 patients (7.44%) exhibited variant Philadelphia (Ph) chromosome translocations. A control… (full text at CIViC) PMID 19737651 · Bennour et al., 2009 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Diagnostic | C | Does Not Support Positive | 2 | accepted | EID213Data from deep sequencing of a Ph-negative clone of a Ph-positive CML patient has found a driving mutation in DNMT3A that preceeded the BCR-ABL fusion, and may imply the possibility that BCR-ABL is no… (full text at CIViC) PMID 25212276 · Schmidt et al., 2014 · Open in CIViC | civic |
| Asciminib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11223233 patients aged 18 or older who had Ph+ CML and were previously treated with two or more tyrosine kinase inhibitors were recruited to an open-label, multicentre phase 3 trial. The patients were rand… (full text at CIViC) PMID 34407542 · Réa et al., 2021 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID12213In the phase 3 ASC4FIRST trial (NCT04971226), patients with newly diagnosed Ph+ CML were randomized 1:1 to receive either asciminib (n=201) or an investigator-selected TKI (n=204). At week 48, major m… (full text at CIViC) PMID 38820078 · Hochhaus et al., 2024 · Open in CIViC | civic |
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11224536 patients with CML, 487 of which were Philadelphia chromosome-positive were enlisted to a multicentre, open-label phase 3 trial assessing the efficacy and safety of bosutinib. The patients were ran… (full text at CIViC) PMID 29091516 · Cortes et al., 2018 · Open in CIViC | civic |
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID4706Prior to dasatanib treatment, fifteen imatinib-resistant patients with chronic myeloid leukemia in various phases had the BCR-ABL1 fusion with no secondary variants in at least ten clones generated us… (full text at CIViC) PMID 16775234 · Talpaz et al., 2006 · Open in CIViC | civic |
| Imatinib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 5 | accepted | EID259Treatment of Philadelphia chromosome positive leukemias with imatinib results in high rates of complete remission in patients with CML. PMID 12476305 · Nimmanapalli et al., 2002 · Open in CIViC | civic |