Ruxolitinib

B Acute Lymphoblastic LeukemiaALIAS

Predictive

Supports Sensitivity Response

accepted

EID7021

A 17-year-old Native American female with B-ALL had persistent MRD at the end of induction. In addition to a complex karyotype, sequencing revealed a novel F694L mutation in JAK2, a p.Cys119_Ile121del… (full text at CIViC)

PMID 27860260 · Mayfield et al., 2017 · Open in CIViC

JAK2 Fusion1
Ruxolitinib	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	C	Supports Sensitivity Response	3	accepted	EID7007 A 10-year-old Caucasian boy with high risk B-cell acute lymphoblastic leukemia failed induction therapy. The patient had a complex karyotype and microarray revealed a 9p duplication involving JAK2 and… (full text at CIViC) PMID 29773603 · Ding et al., 2018 · Open in CIViC	civic

JAK2 Fusion1

B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like

Predictive

Supports Sensitivity Response

accepted

EID7007

A 10-year-old Caucasian boy with high risk B-cell acute lymphoblastic leukemia failed induction therapy. The patient had a complex karyotype and microarray revealed a 9p duplication involving JAK2 and… (full text at CIViC)

PMID 29773603 · Ding et al., 2018 · Open in CIViC

JAK1 S646F1
Ruxolitinib	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	D	Supports Sensitivity Response	2	submitted	EID7957 A patient derived Ph-like B-ALL Xenograft (V) harboring the JAK1 S646F mutation was treated with ruxolitinib. Compared to vehicle, the ruxolitinib treated Xenograft had lower peripheral and splenic b… (full text at CIViC) PMID 22955920 · Maude et al., 2012 · Open in CIViC	civic

JAK1 S646F1

B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like

Predictive

Supports Sensitivity Response

submitted

EID7957

A patient derived Ph-like B-ALL Xenograft (V) harboring the JAK1 S646F mutation was treated with ruxolitinib. Compared to vehicle, the ruxolitinib treated Xenograft had lower peripheral and splenic b… (full text at CIViC)

PMID 22955920 · Maude et al., 2012 · Open in CIViC

JAK2 Fusion1
Ruxolitinib	B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like	Predictive	C	Supports Sensitivity Response	3	accepted	EID7257 The SSBP2-JAK2 fusion was identified in a 14 yo male with Ph-like B-ALL, a t(5;9)(q12;p1?3), and a WBC of 160,000. Following 4-drug induction therapy the patient had an MRD of 5.5%, indicating a poor … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC	civic

JAK2 Fusion1

B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like

Predictive

Supports Sensitivity Response

accepted

EID7257

The SSBP2-JAK2 fusion was identified in a 14 yo male with Ph-like B-ALL, a t(5;9)(q12;p1?3), and a WBC of 160,000. Following 4-drug induction therapy the patient had an MRD of 5.5%, indicating a poor … (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC

CSF3R T618I2
Ruxolitinib	Chronic Neutrophilic Leukemia	Predictive	C	Supports Sensitivity Response	4	accepted	EID6381 Case report of a patient treated with ruxolitinib, an FDA-approved JAK1/2 inhibitor, which resulted in dramatic improvement of his blood counts. He also had significant reduction of spleen volume and … (full text at CIViC) PMID 25180155 · Dao et al., 2014 · Open in CIViC	civic
〃	Chronic Neutrophilic Leukemia	Predictive	D	Supports Sensitivity Response	4	accepted	EID6380 Demonstrates that activating mutations in CSF3R are sufficient to drive a myeloproliferative disorder resembling aCML and CNL that is sensitive to pharmacologic JAK inhibition. PMID 24081659 · Fleischman et al., 2013 · Open in CIViC	civic

CSF3R T618I2

Chronic Neutrophilic Leukemia

Predictive

Supports Sensitivity Response

accepted

EID6381

Case report of a patient treated with ruxolitinib, an FDA-approved JAK1/2 inhibitor, which resulted in dramatic improvement of his blood counts. He also had significant reduction of spleen volume and … (full text at CIViC)

PMID 25180155 · Dao et al., 2014 · Open in CIViC

Chronic Neutrophilic Leukemia

〃

Predictive

Supports Sensitivity Response

accepted

EID6380

Demonstrates that activating mutations in CSF3R are sufficient to drive a myeloproliferative disorder resembling aCML and CNL that is sensitive to pharmacologic JAK inhibition.

PMID 24081659 · Fleischman et al., 2013 · Open in CIViC

JAK1 A1086S1
Ruxolitinib	Hepatocellular Carcinoma	Predictive	D	Does Not Support Sensitivity Response	3	submitted	EID10058 JAK1 mutations were identified by sequencing 60 HCC PDX tumour models. There mutations were then functionally characterized. HEK293FT cells were transfected with JAK1 WT or mutants (N451S, E483D, S703… (full text at CIViC) PMID 26701727 · Yang et al., 2016 · Open in CIViC	civic

JAK1 A1086S1

Predictive

Does Not Support Sensitivity Response

submitted

EID10058

JAK1 mutations were identified by sequencing 60 HCC PDX tumour models. There mutations were then functionally characterized. HEK293FT cells were transfected with JAK1 WT or mutants (N451S, E483D, S703… (full text at CIViC)

PMID 26701727 · Yang et al., 2016 · Open in CIViC

JAK1 E483D1
Ruxolitinib	Hepatocellular Carcinoma	Predictive	D	Does Not Support Sensitivity Response	3	submitted	EID10057 JAK1 mutations were identified by sequencing 60 HCC PDX tumour models. There mutations were then functionally characterized. HEK293FT cells were transfected with JAK1 WT or mutants (N451S, E483D, S703… (full text at CIViC) PMID 26701727 · Yang et al., 2016 · Open in CIViC	civic

JAK1 E483D1

Predictive

Does Not Support Sensitivity Response

submitted

EID10057

PMID 26701727 · Yang et al., 2016 · Open in CIViC

JAK1 N451S1
Ruxolitinib	Hepatocellular Carcinoma	Predictive	D	Does Not Support Sensitivity Response	3	submitted	EID10056 JAK1 mutations were identified by sequencing 60 HCC PDX tumour models. There mutations were then functionally characterized. HEK293FT cells were transfected with JAK1 WT or mutants (N451S, E483D, S703… (full text at CIViC) PMID 26701727 · Yang et al., 2016 · Open in CIViC	civic

JAK1 N451S1

Predictive

Does Not Support Sensitivity Response

submitted

EID10056

PMID 26701727 · Yang et al., 2016 · Open in CIViC

JAK1 S703I1
Ruxolitinib	Hepatocellular Carcinoma	Predictive	D	Supports Sensitivity Response	4	accepted	EID1900 A JAK1 S703I mutation was found to activate the JAK-STAT signaling pathway in vitro and in vivo in hepatocellular carcinoma. Ruxolitinib causes the suppression of JAK-STAT signaling pathway in PDX mod… (full text at CIViC) PMID 26701727 · Yang et al., 2016 · Open in CIViC	civic

JAK1 S703I1

Predictive

Supports Sensitivity Response

accepted

EID1900

A JAK1 S703I mutation was found to activate the JAK-STAT signaling pathway in vitro and in vivo in hepatocellular carcinoma. Ruxolitinib causes the suppression of JAK-STAT signaling pathway in PDX mod… (full text at CIViC)

PMID 26701727 · Yang et al., 2016 · Open in CIViC

JAK2 Fusion + JAK2 Fusion1
Ruxolitinib	Myeloid Neoplasm	Predictive	B	Supports Sensitivity Response	2	submitted	EID11325 In this study, 18 patients with PCM1-JAK2 (n = 8), BCR-JAK2 (n = 1), and ETV6-ABL1 (n = 9) fusion genes were enrolled. RT-PCR was performed for confirmation of PCM1-JAK2, BCR-JAK2 and ETV6-ABL1 fusion… (full text at CIViC) PMID 32279331 · Schwaab et al., 2020 · Open in CIViC	civic

JAK2 Fusion + JAK2 Fusion1

Myeloid Neoplasm

Predictive

Supports Sensitivity Response

submitted

EID11325

In this study, 18 patients with PCM1-JAK2 (n = 8), BCR-JAK2 (n = 1), and ETV6-ABL1 (n = 9) fusion genes were enrolled. RT-PCR was performed for confirmation of PCM1-JAK2, BCR-JAK2 and ETV6-ABL1 fusion… (full text at CIViC)

PMID 32279331 · Schwaab et al., 2020 · Open in CIViC

JAK1 OVEREXPRESSION1
Ruxolitinib	Sarcoma	Predictive	C	Supports Sensitivity Response	3	accepted	EID7852 Sequencing of an 8-year old patient diagnosed with a left tentorial-based CNS sarcoma discovered an EWSR1-ATF fusion and IL6 and JAK1 overexpression. Patient was treated with ruxolitinib based on over… (full text at CIViC) PMID 31372595 · Newton et al., 2018 · Open in CIViC	civic

JAK1 OVEREXPRESSION1

Sarcoma

Predictive

Supports Sensitivity Response

accepted

EID7852

Sequencing of an 8-year old patient diagnosed with a left tentorial-based CNS sarcoma discovered an EWSR1-ATF fusion and IL6 and JAK1 overexpression. Patient was treated with ruxolitinib based on over… (full text at CIViC)

PMID 31372595 · Newton et al., 2018 · Open in CIViC

VHL R200W (c.598C>T)1
Ruxolitinib	Chuvash PolycythemiaUNRESOLVED	Predictive	C	Supports Sensitivity Response	4	accepted	EID1608 Homozygous VHL R200W mutations result in a rare congenital polycythemia known as Chuvash polycythemia. Treatment of 3 patients with this disease with the JAK1/2 inhibitor ruxolitinib led to symptomati… (full text at CIViC) PMID 27518686 · Zhou et al., 2016 · Open in CIViC	civic

VHL R200W (c.598C>T)1

Chuvash PolycythemiaUNRESOLVED

Predictive

Supports Sensitivity Response

accepted

EID1608

Homozygous VHL R200W mutations result in a rare congenital polycythemia known as Chuvash polycythemia. Treatment of 3 patients with this disease with the JAK1/2 inhibitor ruxolitinib led to symptomati… (full text at CIViC)

PMID 27518686 · Zhou et al., 2016 · Open in CIViC