Lymphoid neoplasm

Summary

Lymphoid neoplasm (MONDO:0005157) is a cancer (an umbrella term covering 6 Mondo subtypes) with 146 GWAS associations across 7 studies and 8 clinical trials. Top therapeutic interventions include enalapril, carmustine, and carvedilol. A subtype of hematopoietic and lymphoid cell neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Umbrella term: 6 Mondo subtypes
• GWAS associations: 146
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	lymphoid neoplasm
Mondo ID	MONDO:0005157
EFO	EFO:0001642
NCIT	C7065
UMLS	C0598798
MedGen	108626
GARD	0024157
Is cancer (heuristic)	yes

Also known as: lymphocytic and plasma cell neoplasm · lymphocytic and plasma cell tumor · lymphocytic and plasma cell tumour · lymphocytic and plasmacytic neoplasm · lymphocytic neoplasm · lymphocytic tumor · lymphocytic tumour · lymphoid and plasma cell tumor · lymphoid and plasma cell tumour · lymphoid and plasmacytic neoplasm · lymphoid and plasmacytic tumor · lymphoid and plasmacytic tumour · lymphoid neoplasm · lymphoid tumor · lymphoid tumour

Data availability: 146 GWAS associations (7 studies) · 6 intOGen driver records.

Disease family

This is a subtype of hematopoietic and lymphoid cell neoplasm. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

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

Related subtypes (7): central nervous system hematopoietic neoplasm, refractory hematologic cancer, leukemia, myeloid neoplasm, histiocytic and dendritic cell neoplasm, myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2, myelodysplastic syndrome with excess blasts

Subtypes (6): precursor lymphoblastic lymphoma/leukemia, lymphoma, neoplasm of immature B and T cells, lymphoid leukemia, malignant lymphatic vessel tumor, T-cell and NK-cell neoplasm

Genetics & variants

GWAS landscape

146 GWAS associations across 7 studies. Top hits map to 37 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs142239370	2e-23	PALD1	?	1.4
rs10936599	2e-23	MYNN	?	0.85
rs78325861	5e-20	PALD1	?	1.22
rs12202284	2e-18	IRF4 - EXOC2	?	1.17
rs4273077	4e-18	TNFRSF13B	?	1.25
rs338603	9e-18	LINC01967	?	1.13
rs6734942	2e-17	BCL2L11, MIR4435-2HG	?	1.13
rs72994964	2e-17	Y_RNA - CD70	?	1.13
rs6761076	6e-15	DTNB	?	0.84
rs1716981	9e-15	ULK4	?	0.85
rs1948915	6e-13	CASC19, PCAT1	?	1.12
rs9265993	7e-13	LINC02571 - HLA-B	?	1.2
rs34194057	8e-13	LRRIQ4	?	0.9
rs199562054	1e-12	CASP8, FLACC1	?	0.9
rs2905715	1e-12	MICA-AS1	?	0.91
rs2253944	1e-12	BCL6-AS1 - LINC01991	?	1.07
rs9866625	2e-12	EOMES	?	1.09
rs34517439	3e-12	GIPC2, DNAJB4	?	1.14
rs28766030	3e-12	MIR4435-2HG	?	1.1
rs3130700	5e-12	HCG27 - HLA-C	?	1.21
rs1458017	6e-12	ELL2	?	0.87
rs13356727	6e-12	MIR4457 - CLPTM1L	?	0.92
rs111632177	1e-11	CHPF2	?	1.19
rs11085015	1e-11	NFIC	?	0.86
rs35446936	1e-11	ACTRT3	?	0.88
rs115116856	3e-11	EXOC2	?	1.94
rs7123726	6e-11	COX7CP3 - SETP16	?	1.25
rs7927176	7e-11	GRAMD1B	?	0.91
rs140083693	9e-11	RNU6-376P - DDX6	?	1.12
rs1042136	1e-10	HLA-DPB1	?	0.78

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90624743	Guler M	2025	31,937	1,226,816	Clustering of lymphoid neoplasms by cell of origin, somatic mutation and drug usage profiles: a multi-trait genome-wide association study.
GCST90624740	Guler M	2025	15,987	1,106,048	Clustering of lymphoid neoplasms by cell of origin, somatic mutation and drug usage profiles: a multi-trait genome-wide association study.
GCST90624736	Guler M	2025	12,198	1,106,082	Clustering of lymphoid neoplasms by cell of origin, somatic mutation and drug usage profiles: a multi-trait genome-wide association study.
GCST90624750	Guler M	2025	10,713	1,105,418	Clustering of lymphoid neoplasms by cell of origin, somatic mutation and drug usage profiles: a multi-trait genome-wide association study.
GCST90624737	Guler M	2025	9,157	1,226,186	Clustering of lymphoid neoplasms by cell of origin, somatic mutation and drug usage profiles: a multi-trait genome-wide association study.
GCST90624749	Guler M	2025	2,934	656,255	Clustering of lymphoid neoplasms by cell of origin, somatic mutation and drug usage profiles: a multi-trait genome-wide association study.
GCST90041921	Jiang L	2021	121	456,155	A generalized linear mixed model association tool for biobank-scale data.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	3
Tier 2: splice/UTR	1
Tier 3: regulatory	2
Tier 4: intronic/intergenic	44

MAF distribution

Bucket	Variants
common (>=0.05)	49
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	34
intergenic_variant	9
missense_variant	3
regulatory_region_variant	2
3_prime_UTR_variant	1
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs142239370	10	70623113	A>C,G	0.05	intergenic_variant	PALD1	2e-23	Tier 4: intronic/intergenic
rs10936599	3	169774313	C>G,T	0.05	missense_variant	MYNN	2e-23	Tier 1: coding
rs78325861	10	70618733	C>G	0.05	intergenic_variant	PALD1	5e-20	Tier 4: intronic/intergenic
rs12202284	6	471136	C>A,T	0.05	intron_variant	IRF4 - EXOC2	2e-18	Tier 4: intronic/intergenic
rs4273077	17	16945825	A>C,G,T	0.05	intron_variant	TNFRSF13B	4e-18	Tier 4: intronic/intergenic
rs338603	3	28026903	T>A,C	0.05	intron_variant	LINC01967	9e-18	Tier 4: intronic/intergenic
rs6734942	2	111153117	C>G,T	0.05	intron_variant	BCL2L11, MIR4435-2HG	2e-17	Tier 4: intronic/intergenic
rs72994964	19	6581230	T>A,C	0.05	intergenic_variant	Y_RNA - CD70	2e-17	Tier 4: intronic/intergenic
rs6761076	2	25384889	T>A,C,G	0.05	intron_variant	DTNB	6e-15	Tier 4: intronic/intergenic
rs1716981	3	41921170	G>A,C,T	0.05	intron_variant	ULK4	9e-15	Tier 4: intronic/intergenic
rs1948915	8	127210176	T>A,C	0.05	intron_variant	CASC19, PCAT1	6e-13	Tier 4: intronic/intergenic
rs9265993	6	31348743	G>A	0.05	intron_variant	LINC02571 - HLA-B	7e-13	Tier 4: intronic/intergenic
rs34194057	3	169831763	G>A,C,T	0.05	intron_variant	LRRIQ4	8e-13	Tier 4: intronic/intergenic
rs199562054	2	201293818	CA>C,CAA,CAAA	0.05	intron_variant	CASP8, FLACC1	1e-12	Tier 4: intronic/intergenic
rs2905715	6	31383753	T>C,G	0.05	intron_variant	MICA-AS1	1e-12	Tier 4: intronic/intergenic
rs2253944	3	187925558	A>G,T	0.05	regulatory_region_variant	BCL6-AS1 - LINC01991	1e-12	Tier 3: regulatory
rs9866625	3	27717847	C>A,G,T	0.05	intron_variant	EOMES	2e-12	Tier 4: intronic/intergenic
rs34517439	1	77984833	C>A	0.05	intron_variant	GIPC2, DNAJB4	3e-12	Tier 4: intronic/intergenic
rs28766030	2	111204852	T>C	0.05	intron_variant	MIR4435-2HG	3e-12	Tier 4: intronic/intergenic
rs3130700	6	31233471	C>A,T	0.05	intergenic_variant	HCG27 - HLA-C	5e-12	Tier 4: intronic/intergenic
rs1458017	5	95915642	G>A,T	0.05	intron_variant	ELL2	6e-12	Tier 4: intronic/intergenic
rs13356727	5	1312342	G>A,C	0.05	regulatory_region_variant	MIR4457 - CLPTM1L	6e-12	Tier 3: regulatory
rs111632177	7	151234719	G>A	0.05	intron_variant	CHPF2	1e-11	Tier 4: intronic/intergenic
rs11085015	19	3369574	T>G	0.05	intron_variant	NFIC	1e-11	Tier 4: intronic/intergenic
rs35446936	3	169768720	G>A,C	0.05	intron_variant	ACTRT3	1e-11	Tier 4: intronic/intergenic
rs115116856	6	503573	T>C	0.05	intron_variant	EXOC2	3e-11	Tier 4: intronic/intergenic
rs7123726	11	118823838	T>C	0.05	intron_variant	COX7CP3 - SETP16	6e-11	Tier 4: intronic/intergenic
rs7927176	11	123525156	A>C,G	0.05	intron_variant	GRAMD1B	7e-11	Tier 4: intronic/intergenic
rs140083693	11	118735970	TA>T,TAA	0.05	intron_variant	RNU6-376P - DDX6	9e-11	Tier 4: intronic/intergenic
rs1042136	6	33080851	A>C,G,T	0.05	missense_variant	HLA-DPB1	1e-10	Tier 1: coding

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

2 approved, 6 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Omidubicel	Approved (phase 4)
Omidubicel Non-Cultured Fraction	Approved (phase 4)
Carvedilol	Phase 3 (in late-stage trials)
Enalapril	Phase 3 (in late-stage trials)
Ibandronic Acid	Phase 3 (in late-stage trials)
Methylphenidate	Phase 3 (in late-stage trials)
Methylprednisolone	Phase 3 (in late-stage trials)
Tranexamic Acid	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Alectinib, Alemtuzumab, Atezolizumab, Axicabtagene Ciloleucel, Azacitidine, Bendamustine, Blinatumomab, Bortezomib, Brexucabtagene Autoleucel, Busulfan, Cobimetinib, Cyclosporine, Darbepoetin Alfa, Dexamethasone, Doxorubicin, Entrectinib, Etoposide, Filgrastim, Fludarabine, Fludarabine Phosphate, Ibrutinib, Inotuzumab Ozogamicin, Iron Sucrose, Melphalan, Methotrexate, Mycophenolate Mofetil, Nivolumab, PEGINTERFERON ALFA-2B, Pasireotide, Pegfilgrastim, Pembrolizumab, Pertuzumab, Prednisone, Rituximab, Ruxolitinib, SGN-30, Tacrolimus Anhydrous, Thiotepa, Trastuzumab, Treosulfan, Vemurafenib, Vibostolimab, Vincristine.

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	4
Not specified	3
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01110824	PHASE3	COMPLETED	Prevention of Left Ventricular Dysfunction During Chemotherapy
NCT00439556	PHASE2	COMPLETED	Bortezomib and Chemotherapy in Treating Participants With Lymphoid Malignancies Undergoing Stem Cell Transplant
NCT03856216	PHASE2	TERMINATED	Inotuzumab Ozogamicin and Chemotherapy in Treating Patients With Leukemia or Lymphoma Undergoing Stem Cell Transplantation
NCT04138875	PHASE2	WITHDRAWN	A Risk Stratified Sequential Treatment With Rituximab, Brentuximab Vedotin and Bendamustine (RBvB)
NCT04897139	PHASE2	UNKNOWN	Flu-Bu-Mel Based Conditioning Regimen for Patients With Lymphoid Malignancies Undergoing Allo-HSCT
NCT06250595	Not specified	RECRUITING	European Rare Blood Disorders Platform (ENROL)
NCT01779882	Not specified	COMPLETED	Cyclophosphamide and Busulfan as Conditioning Regimen Before Allogeneic HSCT
NCT04509804	Not specified	COMPLETED	Target Gene Sequencing for Advanced Stage, Relapsed or Refractory Natural Killer/T-cell Lymphoma

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ENALAPRIL	4	3
CARMUSTINE	4	1
CARVEDILOL	4	1
INOTUZUMAB OZOGAMICIN	4	1
(R)-Carvedilol	0	1