Bone marrow neoplasm

Summary

Bone marrow neoplasm (MONDO:0005374) is a cancer with 1 cohort gene (1 CIViC-evidence somatic driver) and 8 clinical trials. Top therapeutic interventions include ruxolitinib, darinaparsin, and talmapimod.

At a glance

• Classification: Cancer
• Cohort genes: 1
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	bone marrow neoplasm
Mondo ID	MONDO:0005374
MeSH	D019046
DOID	DOID:4960
NCIT	C35370
SNOMED CT	414824005
UMLS	C0282609
MedGen	129203
GARD	0024177
Anatomy (UBERON)	UBERON:0002371
Is cancer (heuristic)	yes

Also known as: bone marrow cancer · bone marrow neoplasm · bone marrow neoplasm (disease) · bone marrow tumor · bone marrow tumour · malignant bone marrow tumor · malignant bone marrow tumour · neoplasm of bone marrow · tumor of bone marrow · tumour of bone marrow

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › bone marrow neoplasm

Related subtypes (8): cavernous hemangioma, thymus neoplasm, STAT3-related early-onset multisystem autoimmune disease, myeloid hemopathy, lymphoid hemopathy, lymph node neoplasm, spleen neoplasm, hematopoietic and lymphoid cell neoplasm

Subtypes (1): bone marrow cancer

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
JAK2	Act	ALL,AML,BLADDER,BRCA,NSCLC	CIViC #28

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
JAK2	Orphanet:131	Budd-Chiari syndrome
JAK2	Orphanet:3318	Essential thrombocythemia
JAK2	Orphanet:667662	Breast implant-associated anaplastic large cell lymphoma
JAK2	Orphanet:71493	Familial thrombocytosis
JAK2	Orphanet:729	Polycythemia vera
JAK2	Orphanet:824	Primary myelofibrosis

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
JAK2	HGNC:6192	ENSG00000096968	O60674	Tyrosine-protein kinase JAK2	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
JAK2	Tyrosine-protein kinase JAK2	Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
JAK2	Kinase	yes	2.7.10.2	FERM_domain, Prot_kinase_dom, SH2

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
blood vessel layer	1
calcaneal tendon	1
monocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
JAK2	272	ubiquitous	marker	calcaneal tendon, monocyte, blood vessel layer

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
JAK2	6,197

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
JAK2	O60674	164

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 66. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Erythropoietin activates Phospholipase C gamma (PLCG)	1	1631.4×	0.005	JAK2
Erythropoietin activates STAT5	1	1631.4×	0.005	JAK2
Interleukin-6 family signaling	1	1427.5×	0.005	JAK2
IFNG signaling activates MAPKs	1	1427.5×	0.005	JAK2
Interleukin-23 signaling	1	1268.9×	0.005	JAK2
MAPK1 (ERK2) activation	1	1142.0×	0.005	JAK2
Signaling by KIT in disease	1	1142.0×	0.005	JAK2
MAPK3 (ERK1) activation	1	1038.2×	0.005	JAK2
Signaling by Leptin	1	1038.2×	0.005	JAK2
Signaling by Erythropoietin	1	1038.2×	0.005	JAK2
Interleukin-27 signaling	1	1038.2×	0.005	JAK2
Interleukin-6 signaling	1	951.7×	0.005	JAK2
Interleukin-35 Signalling	1	951.7×	0.005	JAK2
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)	1	951.7×	0.005	JAK2
Regulation of IFNG signaling	1	815.7×	0.005	JAK2
Prolactin receptor signaling	1	761.3×	0.005	JAK2
Erythropoietin activates RAS	1	761.3×	0.005	JAK2
RAF-independent MAPK1/3 activation	1	634.4×	0.005	JAK2
Interleukin-2 family signaling	1	634.4×	0.005	JAK2
IL-6-type cytokine receptor ligand interactions	1	634.4×	0.005	JAK2
Signaling by CSF3 (G-CSF)	1	571.0×	0.006	JAK2
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	1	519.1×	0.006	JAK2
Interleukin-12 family signaling	1	475.8×	0.006	JAK2
Growth hormone receptor signaling	1	475.8×	0.006	JAK2
Inactivation of CSF3 (G-CSF) signaling	1	439.2×	0.006	JAK2
Signaling by RAS mutants	1	423.0×	0.006	JAK2
Interleukin-20 family signaling	1	423.0×	0.006	JAK2
Interleukin-12 signaling	1	407.9×	0.006	JAK2
Interleukin receptor SHC signaling	1	407.9×	0.006	JAK2
G1 Phase	1	393.8×	0.006	JAK2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
nuclear receptor-mediated mineralocorticoid signaling pathway	1	16852.0×	0.002	JAK2
symbiont-induced defense-related programmed cell death	1	16852.0×	0.002	JAK2
interleukin-35-mediated signaling pathway	1	16852.0×	0.002	JAK2
response to interleukin-12	1	8426.0×	0.002	JAK2
positive regulation of growth factor dependent skeletal muscle satellite cell proliferation	1	8426.0×	0.002	JAK2
regulation of postsynapse to nucleus signaling pathway	1	8426.0×	0.002	JAK2
positive regulation of growth hormone receptor signaling pathway	1	5617.3×	0.002	JAK2
collagen-activated signaling pathway	1	4213.0×	0.002	JAK2
granulocyte-macrophage colony-stimulating factor signaling pathway	1	4213.0×	0.002	JAK2
activation of Janus kinase activity	1	4213.0×	0.002	JAK2
post-embryonic hemopoiesis	1	2808.7×	0.002	JAK2
cellular response to interleukin-3	1	2808.7×	0.002	JAK2
interleukin-5-mediated signaling pathway	1	2808.7×	0.002	JAK2
interleukin-23-mediated signaling pathway	1	2808.7×	0.002	JAK2
erythropoietin-mediated signaling pathway	1	2808.7×	0.002	JAK2
positive regulation of NK T cell proliferation	1	2808.7×	0.002	JAK2
positive regulation of leukocyte proliferation	1	2808.7×	0.002	JAK2
interleukin-3-mediated signaling pathway	1	2407.4×	0.002	JAK2
thrombopoietin-mediated signaling pathway	1	2106.5×	0.002	JAK2
interleukin-12-mediated signaling pathway	1	1872.4×	0.002	JAK2
mammary gland epithelium development	1	1872.4×	0.002	JAK2
response to hydroperoxide	1	1685.2×	0.002	JAK2
regulation of nitric oxide biosynthetic process	1	1685.2×	0.002	JAK2
growth hormone receptor signaling pathway via JAK-STAT	1	1532.0×	0.002	JAK2
negative regulation of protein localization to chromatin	1	1532.0×	0.002	JAK2
positive regulation of natural killer cell proliferation	1	1404.3×	0.002	JAK2
regulation of receptor signaling pathway via JAK-STAT	1	1404.3×	0.002	JAK2
positive regulation of T-helper 17 type immune response	1	1404.3×	0.002	JAK2
enzyme-linked receptor protein signaling pathway	1	1296.3×	0.002	JAK2
positive regulation of platelet activation	1	1296.3×	0.002	JAK2

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
JAK2	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
JAK2	100	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FEDRATINIB	4	JAK2
RUXOLITINIB	4	JAK2
TOFACITINIB	4	JAK2
UPADACITINIB	4	JAK2
MOMELOTINIB	4	JAK2
PONATINIB	4	JAK2
AXITINIB	4	JAK2
NICLOSAMIDE	4	JAK2
RUXOLITINIB PHOSPHATE	4	JAK2
INFIGRATINIB PHOSPHATE	4	JAK2
INFIGRATINIB	4	JAK2
ENTRECTINIB	4	JAK2
DABRAFENIB	4	JAK2
PACRITINIB	4	JAK2
TOFACITINIB CITRATE	4	JAK2
BARICITINIB	4	JAK2
CERITINIB	4	JAK2
BOSUTINIB	4	JAK2
PEFICITINIB	4	JAK2
LORLATINIB	4	JAK2
FILGOTINIB	4	JAK2
BRIGATINIB	4	JAK2
ABROCITINIB	4	JAK2
REPOTRECTINIB	4	JAK2
DEUCRAVACITINIB	4	JAK2
PRALSETINIB	4	JAK2
CRAVACITINIB	4	JAK2
PAZOPANIB	4	JAK2
NINTEDANIB	4	JAK2
SUNITINIB	4	JAK2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
JAK2	2,018	Binding:1911, Functional:51, ADMET:48, Unclassified:4, Toxicity:4

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
JAK2	2.7.10.2	non-specific protein-tyrosine kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
JAK2	2,018

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

29 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

Compound	Max phase	Cohort target (bioactivity)
FEDRATINIB	4	JAK2
TOFACITINIB	4	JAK2
UPADACITINIB	4	JAK2
MOMELOTINIB	4	JAK2
PONATINIB	4	JAK2
AXITINIB	4	JAK2
NICLOSAMIDE	4	JAK2
RUXOLITINIB PHOSPHATE	4	JAK2
INFIGRATINIB PHOSPHATE	4	JAK2
INFIGRATINIB	4	JAK2
ENTRECTINIB	4	JAK2
DABRAFENIB	4	JAK2
PACRITINIB	4	JAK2
TOFACITINIB CITRATE	4	JAK2
BARICITINIB	4	JAK2
CERITINIB	4	JAK2
BOSUTINIB	4	JAK2
PEFICITINIB	4	JAK2
LORLATINIB	4	JAK2
FILGOTINIB	4	JAK2
BRIGATINIB	4	JAK2
ABROCITINIB	4	JAK2
REPOTRECTINIB	4	JAK2
DEUCRAVACITINIB	4	JAK2
PRALSETINIB	4	JAK2
CRAVACITINIB	4	JAK2
PAZOPANIB	4	JAK2
NINTEDANIB	4	JAK2
SUNITINIB	4	JAK2

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	JAK2
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	6
PHASE2	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00113893	PHASE2	COMPLETED	SCIO-469: Open-Label Study for Patients With Myelodysplastic Syndromes.
NCT00421213	PHASE2	COMPLETED	Phase II Study of ZIO-101 in Advanced Blood and Bone Marrow Cancers
NCT04217356	Not specified	ACTIVE_NOT_RECRUITING	Study of Stem Cell Transplant vs. Non-Transplant Therapies in High-Risk Myelofibrosis
NCT03640325	Not specified	COMPLETED	The PRISM Intervention for Adolescents and Young Adults Receiving Hematopoietic Cell Transplantation
NCT05251168	Not specified	COMPLETED	PET Guided Bone Marrow Biopsy vs Trephine Bone Marrow Biopsy
NCT05488717	Not specified	COMPLETED	The Effect of Art-Based Mandala on Mental Health in Bone Marrow Transplant Patients
NCT05632874	Not specified	UNKNOWN	The Effect of Relaxing Breathing Exercise Applied to Patients Before Bone Marrow Biopsy on Vital Signs, Pain and Anxiety Levels
NCT05690230	Not specified	COMPLETED	Improving Patient Experience: BMBA

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
RUXOLITINIB	4	1
DARINAPARSIN	2	1
TALMAPIMOD	2	1