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Mantle cell lymphoma mutation landscape

How often each gene is altered in mantle cell lymphoma, in each sequenced cohort, over the patients on whom it could have been called. Copy number is its own row. Nothing is pooled.

Retrieved 2026-09-17 · Reference cohort: mcl_idibips_2013 · JSON: /disease/mantle-cell-lymphoma/mutations.json · Back to the briefing

Answer block

In IDIBIPS mantle cell lymphoma (PNAS 2013) (29 sequenced patients, exome or genome), the most frequently altered of the 33 genes shown are ATM 41.38%, CCND1 34.48%, TP53 17.24%, KMT2D 13.79%, NSD2 13.79%. Each figure divides by the patients on whom that gene could be called.

Of the briefing's 12 curated targets, 7 are altered in under 2% of this cohort (BTK, SOX11, CDKN2A, BCL2, CD19, MS4A1, NOTCH1): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.

1 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage.

Evidence boundary: frequency here is a count in a named cohort. Whether an alteration is a driver, is actionable, or has a drug is the briefing's question and is not inferred from these numbers.

What is altered, by cohort

One row per alteration, not per gene: a gene that is amplified and rarely mutated (ERBB2, MYCN, EGFR) gets a row for each. Every cell divides by its own denominator — the patients in that cohort on whom that gene could be called. Copy-number rows are shown only where at least one cohort reaches 2%.

Alterationmcl_idibips_2013
29 pts · exome or genome
CCND1 SNV / small indel34.48%10/29
BTK SNV / small indel0%
SOX11 SNV / small indel0%
TP53 SNV / small indel17.24%5/29
ATM SNV / small indel41.38%12/29
CDKN2A SNV / small indel0%
KMT2D SNV / small indel13.79%4/29
NSD2 SNV / small indel13.79%4/29
BCL2 SNV / small indel0%
CD19 SNV / small indel0%
MS4A1 SNV / small indel0%
NOTCH1 SNV / small indel0%
UNC80 SNV / small indel6.9%2/29
UBR5 SNV / small indel6.9%2/29
TRPM6 SNV / small indel6.9%2/29
TNRC6B SNV / small indel6.9%2/29
TLR2 SNV / small indel6.9%2/29
TAS2R41 SNV / small indel6.9%2/29
SP140 SNV / small indel6.9%2/29
SLC17A6 SNV / small indel6.9%2/29
RGS4 SNV / small indel6.9%2/29
PCSK2 SNV / small indel6.9%2/29
MEF2B SNV / small indel6.9%2/29
LUZP4 SNV / small indel6.9%2/29
KIAA1671 SNV / small indel6.9%2/29
FLNC SNV / small indel6.9%2/29
DNAJC6 SNV / small indel6.9%2/29
DLGAP2 SNV / small indel6.9%2/29
DCP1B SNV / small indel6.9%2/29
CRYBG3 SNV / small indel6.9%2/29
CHMP4C SNV / small indel6.9%2/29
BIRC3 SNV / small indel6.9%2/29
ABCC9 SNV / small indel6.9%2/29

observed — shade scales with frequency, full at 30% assayed, none found not on this cohort's panel cohort not readable

Key findings

ATM is mutated in 12 of 29 patients in IDIBIPS mantle cell lymphoma (PNAS 2013).
Numerator: 12 · Denominator: 29 · Frequency: 41.38% · Observed in 1 cohorts · Confidence: moderate · Source: mcl_idibips_2013 · Retrieved: 2026-09-17

CCND1 is mutated in 10 of 29 patients in IDIBIPS mantle cell lymphoma (PNAS 2013).
Numerator: 10 · Denominator: 29 · Frequency: 34.48% · Observed in 1 cohorts · Confidence: moderate · Source: mcl_idibips_2013 · Retrieved: 2026-09-17

TP53 is mutated in 5 of 29 patients in IDIBIPS mantle cell lymphoma (PNAS 2013).
Numerator: 5 · Denominator: 29 · Frequency: 17.24% · Observed in 1 cohorts · Confidence: moderate · Source: mcl_idibips_2013 · Retrieved: 2026-09-17

Gene table — reference cohort

Headline values are from the reference cohort, mcl_idibips_2013; the matrix above keeps every cohort separate. "Curated" marks a gene the disease briefing lists as a target; the rest are here because they are among the most frequently mutated genes in the reference cohort. Recurrent changes are the reference cohort's commonest protein changes.

GeneWhy listedLargest alterationAltered / testedFrequencyWithout hypermutatedCohorts observedRange across cohortsRecurrent changes
CCND1 curated target SNV / small indel 10 / 29 34.48% 1 / 1 34.48–34.48% C47S (n=2), Y44D (n=2), Y44C (n=1), Y44* (n=1), Y44H (n=1)
BTK curated target SNV / small indel 0 / 29 0.0% 0 / 1 0.0–0.0% none recurrent
SOX11 curated target SNV / small indel 0 / 29 0.0% 0 / 1 0.0–0.0% none recurrent
TP53 curated target SNV / small indel 5 / 29 17.24% 1 / 1 17.24–17.24% Y126_T140del (n=1), P278H (n=1), F54Sfs*69 (n=1), D184H (n=1), R273S (n=1)
ATM curated target SNV / small indel 12 / 29 41.38% 1 / 1 41.38–41.38% D2448A (n=1), Q2730R (n=1), I323V (n=1), R3008C (n=1), R2526S (n=1)
CDKN2A curated target SNV / small indel 0 / 29 0.0% 0 / 1 0.0–0.0% none recurrent
KMT2D curated target SNV / small indel 4 / 29 13.79% 1 / 1 13.79–13.79% A5272P (n=1), R2771Q (n=1), D1724Gfs*8 (n=1), Q3604K (n=1)
NSD2 curated target SNV / small indel 4 / 29 13.79% 1 / 1 13.79–13.79% T1150A (n=2), E1099K (n=2)
BCL2 curated target SNV / small indel 0 / 29 0.0% 0 / 1 0.0–0.0% none recurrent
CD19 curated target SNV / small indel 0 / 29 0.0% 0 / 1 0.0–0.0% none recurrent
MS4A1 curated target SNV / small indel 0 / 29 0.0% 0 / 1 0.0–0.0% none recurrent
NOTCH1 curated target SNV / small indel 0 / 29 0.0% 0 / 1 0.0–0.0% none recurrent
UNC80 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% P320L (n=1), K1743N (n=1)
UBR5 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% S2192F (n=1), X2701_splice (n=1)
TRPM6 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% I521F (n=1), T846K (n=1)
TNRC6B by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% S1567* (n=1), N1055* (n=1)
TLR2 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% S298Y (n=1), D327V (n=1)
TAS2R41 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% A255T (n=1), V61L (n=1)
SP140 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% N276Tfs*27 (n=1), Q144* (n=1)
SLC17A6 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% F415L (n=1), G410E (n=1)
RGS4 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% G13V (n=1), G281E (n=1)
PCSK2 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% V469M (n=1), A368T (n=1)
MEF2B by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% F21S (n=2)
LUZP4 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% X31_splice (n=1), S229L (n=1)
KIAA1671 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% Q789H (n=1), V849I (n=1)
FLNC by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% R526L (n=1), R2197W (n=1)
DNAJC6 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% R927M (n=1), G561W (n=1)
DLGAP2 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% T231M (n=1), R633H (n=1)
DCP1B by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% Q241E (n=1), Q255_Q256insR (n=1)
CRYBG3 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% R185C (n=1), R705G (n=1)
CHMP4C by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% R107S (n=1), A52D (n=1)
BIRC3 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% Q552* (n=1), C581Y (n=1)
ABCC9 by frequency SNV / small indel 2 / 29 6.9% 1 / 1 6.9–6.9% R97W (n=1), K778Rfs*34 (n=1)

Cohorts

Listed in the disease profile, not searched: a name search returns the same patients under several accessions. Patients are unique patient ids in the study's sequenced sample list. Hypermutated: more than ten times the cohort's median non-silent mutations per sample, and at least 100.

CohortAccessionPatientsSamples sequenced / in studyAssayPanels (samples)BuildProfiles readHypermutated patientsMedian mutations / sample
IDIBIPS mantle cell lymphoma (PNAS 2013) reference
Mantle Cell Lymphoma (IDIBIPS, PNAS 2013)
mcl_idibips_201329 observed29 / 29exome or genomeWES (29)hg19SNV, small indel017

Copy-number events

Discrete calls from each study's copy-number profile: 2 is high-level amplification, −2 deep deletion. Gains and shallow losses are not counted. Denominators are the cohort's copy-number sample list, which differs from its sequenced list. Rows at 2% or more.

GeneEventObserved patientsTested patientsFrequencyCohortProfile
No copy-number profile reached 2% for any listed gene, or no cohort carries one.

Cohort-aware frequencies

Each row is calculated from unique patients in that study's sequenced sample list. The range is descriptive; no pooled estimate is shown because cross-study overlap and assay comparability have not been checked.

GeneRangePer cohort (altered / tested)
CCND134.48–34.48%mcl_idibips_2013: 10/29 (34.48%)
BTK0.0–0.0%mcl_idibips_2013: 0/29 (0.0%)
SOX110.0–0.0%mcl_idibips_2013: 0/29 (0.0%)
TP5317.24–17.24%mcl_idibips_2013: 5/29 (17.24%)
ATM41.38–41.38%mcl_idibips_2013: 12/29 (41.38%)
CDKN2A0.0–0.0%mcl_idibips_2013: 0/29 (0.0%)
KMT2D13.79–13.79%mcl_idibips_2013: 4/29 (13.79%)
NSD213.79–13.79%mcl_idibips_2013: 4/29 (13.79%)
BCL20.0–0.0%mcl_idibips_2013: 0/29 (0.0%)
CD190.0–0.0%mcl_idibips_2013: 0/29 (0.0%)
MS4A10.0–0.0%mcl_idibips_2013: 0/29 (0.0%)
NOTCH10.0–0.0%mcl_idibips_2013: 0/29 (0.0%)
UNC806.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
UBR56.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
TRPM66.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
TNRC6B6.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
TLR26.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
TAS2R416.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
SP1406.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
SLC17A66.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
RGS46.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
PCSK26.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
MEF2B6.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
LUZP46.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
KIAA16716.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
FLNC6.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
DNAJC66.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
DLGAP26.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
DCP1B6.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
CRYBG36.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
CHMP4C6.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
BIRC36.9–6.9%mcl_idibips_2013: 2/29 (6.9%)
ABCC96.9–6.9%mcl_idibips_2013: 2/29 (6.9%)

What this page does not do

Structural variants
Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases.

Context
Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four.

Interpretation
Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts.

Limitations

How a machine should read this page

  1. Denominators: every frequency divides by the patients in one named cohort on whom the gene could be called; there is no disease-wide figure.
  2. Missing values: not_assayed (the panel did not carry the gene), not_observed (assayed, none found) and not_evaluable (the cohort could not be read) are three different facts and are never converted to zero.
  3. Counting: patients, not samples; several samples from one patient count once. Non-silent calls only.
  4. Copy number: a separate assay with a separate roster; discrete calls at ±2 only.
  5. Hypermutation: flagged per cohort; the headline keeps all patients and the frequency without them is reported beside it.
  6. Provenance: every value carries the study id, the retrieval date and the processing version; the source is the cBioPortal public API.

Machine endpoints: full landscape · genes · cohorts · the disease's own facts: /disease/mantle-cell-lymphoma.json.

Built by the BioTransfer briefings pipeline from the cBioPortal public API. The neuroblastoma page was assembled by hand and set the rules this page follows; how these are built.