Oncofusion

start / graph / concept-low-grade-ess-is-a-nua4-to-polycomb-fusion-family

Explainermoderate confidence 3 of 5: One strong study, or several smaller consistent ones.Q123-the-architecture-from-other-parts-analogy

Low-grade endometrial stromal sarcoma is a family of NuA4-acetyltransferase-to-Polycomb fusions, and that is why one of MBTD1's two fusions looks nothing like the other

also called the ESS fusion family rule · N-terminal NuA4, C-terminal Polycomb

A rare uterine cancer is caused by a whole family of gene fusions that all follow one recipe: take a piece of the machine that switches genes on and staple it to a piece of the machine that switches genes off. Knowing that recipe is what makes it possible to compare MBTD1's uterine fusion with MBTD1's leukaemia fusion at all, because it says what role the shared gene is playing in each.

The same thing, for a scientist

**The rule, as stated by the group that established it.** While characterising the biochemistry of the JAZF1 and CXORF67 endometrial-stromal-sarcoma fusions, Piunti et al. identified **JAZF1 as a new subunit of the NuA4 acetyltransferase complex**, found that both CXORF67 and the MBTD1-CXORF67 fusion protein interact with PRC2, and concluded that **'ESS-associated fusion proteins are characterized by the presence of an N-terminal NuA4 component and a C-terminal PcG subunit'** [E1]. They also call MBTD1 'the NuA4 subunit gene MBTD1' [E1]. **The members, with the assignment of each half.** | fusion | 5' half | 3' half | |---|---|---| | **JAZF1-SUZ12** (about half of low-grade ESS) | JAZF1, a NuA4 subunit [E1] | SUZ12, a PRC2 **core** subunit | | JAZF1-PHF1 | JAZF1 | PHF1/PCL1, a PRC2 accessory subunit | | **EPC1-PHF1** | EPC1, a NuA4 subunit - and the one that recruits MBTD1 into NuA4 [E3] | PHF1 | | MEAF6-PHF1 | MEAF6, a NuA4/HBO1-family subunit [E2] | PHF1 | | **MBTD1-CXorf67/EZHIP** | MBTD1, a NuA4 subunit [E1] | EZHIP, a PRC2 **catalytic antagonist** [E1][E4] | **Why this concept exists in a leukaemia graph, and it is one reason only.** MBTD1 is the 3' partner of ZMYND11::MBTD1 in AML, where its job is to dock the chimera into NuA4/TIP60 through EPC1. Here it is 5'. **Without the family rule there is no basis for saying what MBTD1 is doing in the sarcoma fusion** - the founding report predates the biochemistry and says nothing about role - and without that, the polarity comparison in `analogy-mbtd1-occupies-both-fusion-roles-polarity-not-parts` cannot be made. The rule supplies the missing half. **And the family is internally more interesting than the rule.** Its C-terminal halves are not one thing. **JAZF1-SUZ12 delivers a PRC2 CORE subunit; MBTD1::EZHIP delivers a PRC2 POISON.** Both are 'C-terminal Polycomb' by the rule and they should have opposite chromatin consequences. **Nobody has measured H3K27me3 in either**, in the same histology, which is a within-tissue controlled comparison sitting unused in pathology archives - `exp-h3k27me3-and-ezhip-ihc-in-archival-mbtd1-ezhip-sarcoma` proposes it. **Two cautions on the rule itself.** It is built from four or five fusions in one rare tumour type, and **one of its members was assigned to NuA4 by the same paper that stated the rule**, so rule and instance were established together. And the rule is **not carried in the secondary literature**: a 2026 review of the same gene states that MBTD1 'is associated with PRC1' [E5], which is wrong against three primary papers and which, if believed, turns the family into a Polycomb-to-Polycomb story with a quite different predicted mechanism.

Go deeper
The transferable part, which is not about the uterus

The reason to record this as a concept rather than as a fact about sarcoma is that it is the clearest published case of a fusion family defined by the complexes its halves belong to rather than by a shared gene. Every fusion family this graph holds is named for a gene: the KMT2A family, the NUP98 family, the ETV6 family. Low-grade ESS has no shared gene - JAZF1, EPC1, MEAF6 and MBTD1 share nothing but membership of one complex, and SUZ12, PHF1 and EZHIP share nothing but a relationship to another.

That reframes what a fusion family is, and it has a direct consequence for the PI's fifth dimension. 'The analogous biology in other fusion families' has been pursued in this graph by comparing named-gene families to each other. A complex-defined family is a different kind of comparator: it says that what recurs in a disease may be a pair of complexes rather than a pair of genes, and that the right analogue of a KMT2A fusion might be any address-module-to-elongation-module fusion rather than specifically another KMT2A one.

And it explains a retrieval failure this project has already paid for. Rule 64 in the standing brief exists because a subunit-symbol query cannot reach a paper that frames itself at the level of a complex. This family is the extreme case: no query built from KMT2A, menin or DOT1L will ever reach it, and no query built from JAZF1, EPC1, MEAF6 or MBTD1 will reach all of it either. The founding biochemistry is reachable only through CATACOMB - a contaminated English word - or through NuA4, a complex name. The family is structurally invisible to the way this graph searches, which is presumably why a NuA4-to-Polycomb fusion family sat unrecorded here until a beat about leukaemia stumbled into it.

What is NOT claimed

Not claimed: that any of this is mechanistically relevant to KMT2A-rearranged leukaemia. No gene in this family has any reported relationship to KMT2A, menin, LEDGF, DOT1L or the super-elongation complex. MBTD1[tiab] AND KMT2A[tiab] returns 0 records 6. The family is here because MBTD1 is in it and MBTD1 is in a leukaemia fusion, and for no other reason.

Not claimed: that EPC1's two appearances mean anything. EPC1 is a 5' partner in EPC1-PHF1 and is separately the NuA4 subunit that grips MBTD1's MBT repeats 3. Those are two independent facts about one protein. Treating their coincidence as evidence would be exactly the error the polarity entry warns against, and it is not treated as evidence anywhere in this graph.

Not claimed: that the rule is complete or current. The classification of endometrial stromal tumours has been revised repeatedly - 'high-grade endometrial stromal sarcoma' was reintroduced after the YWHAE-NUTM2A/B discovery, and ZC3H7B-BCOR and other fusions have moved between categories 27. The membership list here is as of the sources cited and is not current nomenclature.

Not claimed: that Polycomb inhibitors are indicated. A 2026 review observes that more than 60% of ESS cases carry translocations involving Polycomb-group genes and asks whether Polycomb inhibitors could be therapeutic candidates 5. For MBTD1::EZHIP that points the wrong way, because the lesion is loss of PRC2 catalysis. The family's C-terminal halves are not one pharmacological target and the rule should not be read as implying they are.

Facts and figures
the rule as published'ESS-associated fusion proteins are characterized by the presence of an N-terminal NuA4 component and a C-terminal PcG subunit' - Piunti et al., PMID 31281901, full text read 2026-09-23.
why this matters to this graphIt supplies the missing half of the MBTD1 polarity comparison. Without a statement of what MBTD1 is DOING in the sarcoma fusion, the observation that its polarity is reversed between its two fusions has no content; the family rule says it is the N-terminal NuA4 component, which is the address position. The founding sarcoma report predates the biochemistry and says nothing about role.
the transferable generalisationThis is the clearest published case of a fusion family defined by the COMPLEXES its halves belong to rather than by a shared gene. Every fusion family this graph holds is named for a gene - KMT2A, NUP98, ETV6. Low-grade ESS has no shared gene at all. That reframes what counts as an analogous fusion family for the PI's fifth dimension: the analogue of a KMT2A fusion may be any address-module-to-elongation-module fusion rather than specifically another KMT2A one.
the retrieval consequenceA complex-defined family is structurally invisible to a gene-symbol search, which is rule 64 at its most extreme. No query built from KMT2A, menin or DOT1L reaches this family; no query built from JAZF1, EPC1, MEAF6 or MBTD1 reaches all of it; and the founding biochemistry is reachable by symbol only through CATACOMB, a contaminated English word returning 20 records including archaeological uses. The complex-name forms NuA4 and TIP60 were NOT run as bare queries in this beat, which is a gap stated rather than closed.
the unused controlled comparisonJAZF1-SUZ12 puts a PRC2 CORE subunit at the C-terminus; MBTD1::EZHIP puts a PRC2 POISON there. Both are 'C-terminal Polycomb' by the rule and should have opposite chromatin consequences. NOBODY HAS MEASURED H3K27me3 IN EITHER, in the same histology, on material any gynaecological pathology archive holds. That is a within-tissue controlled comparison of PRC2 gain against PRC2 loss, and exp-h3k27me3-and-ezhip-ihc-in-archival-mbtd1-ezhip-sarcoma proposes it as the more valuable half of its own design.
absence classmeasured-not-reported
absence class noteThe load-bearing absence is chromatin state across this family: no H3K27me3 measurement is published for JAZF1-SUZ12, EPC1-PHF1, MEAF6-PHF1 or MBTD1::EZHIP tumours. It is measured-not-reported rather than never-measured because H3K27me3 immunohistochemistry is a routine diagnostic stain on formalin-fixed material, these are common enough tumours to sit in every gynaecological archive, and the stain has plausibly been run and never written up. A SECOND ABSENCE IN THIS ENTRY IS A DIFFERENT CLASS AND IS NAMED RATHER THAN CLASSIFIED: no occupancy data exists for any member of this family, so which half selects the target is unknown - that needs new material and is never-measured. And one is neither: the complex-form literature queries (NuA4, TIP60 as bare phrases) were not run, which is an unclosed retrieval gap rather than an absence in the world.
members
[
  {
    "fusion": "JAZF1-SUZ12",
    "five_prime": "JAZF1",
    "five_prime_complex": "NuA4 (newly assigned in PMID 31281901)",
    "three_prime": "SUZ12",
    "three_prime_complex": "PRC2 core subunit",
    "share_of_low_grade_ess": "about half"
  },
  {
    "fusion": "JAZF1-PHF1",
    "five_prime": "JAZF1",
    "five_prime_complex": "NuA4",
    "three_prime": "PHF1",
    "three_prime_complex": "PCL1, PRC2 accessory"
  },
  {
    "fusion": "EPC1-PHF1",
    "five_prime": "EPC1",
    "five_prime_complex": "NuA4/TIP60, and the subunit that recruits MBTD1",
    "three_prime": "PHF1",
    "three_prime_complex": "PCL1, PRC2 accessory"
  },
  {
    "fusion": "MEAF6-PHF1",
    "five_prime": "MEAF6",
    "five_prime_complex": "NuA4/HBO1 family - THE WEAKEST CELL IN THIS TABLE, taken from the rule's framing and not independently verified against a primary source in this beat",
    "three_prime": "PHF1",
    "three_prime_complex": "PCL1, PRC2 accessory"
  },
  {
    "fusion": "MBTD1-CXorf67/EZHIP",
    "five_prime": "MBTD1",
    "five_prime_complex": "NuA4/TIP60, via EPC1",
    "three_prime": "EZHIP",
    "three_prime_complex": "NOT a PRC2 subunit - a PRC2 CATALYTIC ANTAGONIST, an H3K27M mimic. The member the rule categorises least well."
  }
]
not in this family
[
  "YWHAE-NUTM2A/B - high-grade ESS, t(10;17)(q22;p13), neither half is a NuA4 or Polycomb component",
  "ZC3H7B-BCOR - BCOR is a non-canonical PRC1 component, so it does not fit an N-NuA4/C-PRC2 rule either; listed in the same taxonomies and excluded from the rule here"
]
How this could bite us back
  • The therapeutic reading this concept invites is the wrong one. A family in which most fusions involve Polycomb genes looks like a family for Polycomb inhibitors, and a 2026 review says as much - but the members are not one target. JAZF1-SUZ12 adds a PRC2 subunit and MBTD1::EZHIP poisons PRC2, so a single pharmacological direction cannot be right for both, and nothing establishes the direction for either.
  • The rule's most interesting member is the one it categorises least well. EZHIP is not a PRC2 subunit; it is an inhibitor that binds one. If the C-terminal category is stretched to include it, the rule becomes 'anything with a PRC2 relationship' and loses predictive content - and if it is not, then MBTD1::EZHIP is not a member and the basis for calling MBTD1 the address in that fusion disappears, which is the basis this graph's polarity comparison uses.
  • This concept is being used to license an inference about a leukaemia fusion, and its entire evidential base is four or five fusions in a rare uterine tumour, one biochemistry paper, and no occupancy data. Rule 73 applies: the first clause of any claim drawn from it has to name the system, and the system is endometrial stromal sarcoma.
  • And the family is invisible to the way this graph searches. If a NuA4-to-Polycomb fusion family could sit unrecorded here until a leukaemia beat stumbled into it through a gene-symbol lookup, then other complex-defined families are presumably also missing, and no bounded absence built on subunit symbols in this corpus can see them.
Still open
  1. What is the H3K27me3 status of JAZF1-SUZ12 versus MBTD1::EZHIP tumours? One adds a PRC2 core subunit and one delivers a PRC2 poison, in the same histology, and nobody has stained either. This is the most informative unasked question in the family and it needs no rare material for the common arm.
  2. Which half of an ESS fusion selects the target? The family rule says what each half belongs to and is silent on addressing. No occupancy data exists for any member. Until that is measured, calling the N-terminal NuA4 component 'the address' - which this graph does, in the MBTD1 polarity comparison - is an inference from position and not a measurement.
  3. Does EPC1-PHF1 retain the MBTD1-binding C-terminal fragment of EPC1? If it does, that fusion also carries a NuA4-internal protein-protein contact, and the family would have a second wiring diagram nobody has drawn. If it does not, then EPC1's two roles in this story involve different parts of the protein and their coincidence is even less meaningful than this entry already says.
  4. Are there complex-defined fusion families in other diseases? If a pair of complexes rather than a pair of genes can define a recurrent fusion family, the same pattern should exist elsewhere, and a scan of a curated fusion catalogue annotated by complex membership would find it. That is compute, needs no new material, and would say whether this is a general principle or a peculiarity of one rare tumour.
  5. What do the complex-name queries return? NuA4 and TIP60 as bare phrases, and 'NuA4' with 'fusion' or 'sarcoma', were not run in this beat. Rule 64 says a subunit-symbol enumeration cannot bound a complex-framed literature, and every bounded count in this entry is a subunit-symbol enumeration.
Every source behind this entry (7)
  1. E1strong confidence 4 of 5: Replicated in peer-reviewed work by more than one group.paper

    While investigating the biochemical properties of the JAZF1 and CXORF67 endometrial-stromal-sarcoma-associated fusions, Piunti et al. identified JAZF1 as a new subunit of the NuA4 acetyltransferase complex, found that both CXORF67 and the MBTD1-CXORF67 fusion protein interact with PRC2 and strongly decrease H3K27me2/3, described MBTD1 as 'the NuA4 subunit gene MBTD1', and concluded that ESS-associated fusion proteins are characterised by the presence of an N-terminal NuA4 component and a C-terminal Polycomb-group subunit.

    PMID 31281901DOI
    What this evidence cannot show

    Full text read this session via PMC6609211. THE RULE IS BUILT FROM FOUR OR FIVE FUSIONS IN ONE RARE TUMOUR TYPE, and one of its members - JAZF1 - was assigned to NuA4 by this same paper, so the rule and one of its instances were established together. The paper's own experiments concern JAZF1 and CXORF67 only; EPC1-PHF1 and MEAF6-PHF1 appear in its enumeration and no experiment on either is reported. All fusion experiments are ectopic HA-FLAG expression in HEK293T and HCT-116, and the authors' figure legend calls the MBTD1 chimera a 'putative' fusion protein. Genuinely new to this graph per check-citation-reuse.

    Evidence that argues against this (1)
    • A rule stated in the same paper that supplies one of its instances is a hypothesis about a family rather than an independent generalisation, and its most load-bearing consequence here - that MBTD1 is the ADDRESS in the sarcoma fusion because it is the N-terminal NuA4 component - does not follow from complex membership alone. The rule says what each half belongs to; it does not say which half selects the target, and nobody has measured occupancy for any member of this family. Micci F et al. 2014
  2. E2strong confidence 4 of 5: Replicated in peer-reviewed work by more than one group.paper

    The chimeric transcripts described in endometrial stromal sarcoma are JAZF1/SUZ12, YWHAE/FAM22, ZC3H7/BCOR, MBTD1/CXorf67 and recombinations of PHF1 with JAZF1, EPC1 and MEAF6; the MEAF6/PHF1 fusion is recurrent, with both partners involved in epigenetic modification, and in two reported cases the transcript was an in-frame fusion of MEAF6 exon 5 to PHF1 exon 2.

    MEAF6/PHF1 is a recurrent gene fusion in endometrial stromal sarcoma. · Micci F, Gorunova L, Gatius S, Matias-Guiu X, et al. · Cancer Lett 2014
    PMID 24530230DOI
    What this evidence cannot show

    Abstract-level; a two-case report on a different member, cited only for the family enumeration. IT IS NOT INDEPENDENT of the MBTD1/CXorf67 founding report, which it cites. The paper frames the family as 'epigenetic modification' generally and does NOT make the N-terminal-NuA4/C-terminal-Polycomb claim - that comes from E1 alone. The MEAF6 complex assignment in this entry's table is from E1's framing plus general knowledge of the NuA4/HBO1 families and was NOT independently verified against a primary source in this beat; it is the weakest cell in that table. Identifiers fetched from PubMed 2026-09-23.

    Evidence that argues against this (1)
    • A 2014 enumeration predates the current WHO and ICC revisions, and the taxonomy has moved: ZC3H7B-BCOR and YWHAE-NUTM2A/B are now the preferred namings and the high-grade boundary has shifted. A family membership list is a taxonomy and not a mechanism, and this graph should not read E1's architectural rule as endorsed by every paper that happens to list the same fusions. Hoang L et al. 2018
  3. E3strong confidence 4 of 5: Replicated in peer-reviewed work by more than one group.paper

    EPC1 is the non-catalytic NuA4/TIP60 subunit that enlists MBTD1 into the complex, its hydrophobic C-terminal fragment engaging MBTD1's MBT repeats at a site distinct from the H4K20me-binding site; in PDB 6NFX the single 470-residue engineered entity aligns as MBTD1 Q05BQ5 140-562 joined to EPC1 Q9H2F5 644-671, and EPC1 itself is UniProt Q9H2F5, 836 aa, HGNC:19876 at 10p11.22.

    PMID 32209463DOI
    What this evidence cannot show

    Paper read at abstract level; Europe PMC returns no pmcid. The residue spans were derived by aligning 6NFX's fetched entity sequence against UniProt FASTA downloaded the same session, not read off the deposit's numbering. 6NFX is a SINGLE-CHAIN ENGINEERED CHIMERA with one polymer entity, so it models the bound state rather than measuring association. Cited here ONLY to identify EPC1 as a NuA4 subunit and as MBTD1's anchor - its appearance as an ESS 5' partner is a separate fact from E1 and E2, and their coincidence is explicitly not treated as evidence.

    Evidence that argues against this (1)
    • EPC1's two roles in this story - sarcoma 5' partner and MBTD1's NuA4 anchor - are independent facts whose coincidence is not informative, and a reader could easily construct from them a claim that the family is 'wired through' the MBTD1 contact. Nothing supports that. EPC1-PHF1 retains EPC1's N-terminus and there is no report of whether the MBTD1-binding C-terminal fragment survives in it, so it is not even established that the two roles involve the same part of the protein. Piunti A et al. 2019
  4. E4established confidence 5 of 5: Multiple independent lines of evidence; treated as settled in the field.paper

    EZHIP, previously CXorf67 and also called CATACOMB, is HGNC:33738 at Xp11.22 and UniProt Q86X51 (503 aa), a catalytic antagonist of PRC2 whose short C-terminal conserved peptide mimics the H3K27M oncohistone, binds the EZH2 SET domain and blocks methyltransferase activity, with the inhibitory region annotated at residues 403-423 and residues 401-409 sufficient for EZH2 interaction.

    PMID 30923826DOI
    What this evidence cannot show

    The paper was read at abstract level and supplies the MECHANISM; the identifiers and the residue spans come from HGNC and UniProt Q86X51 fetched live 2026-09-23 and are recorded in gene-ezhip. Ependymoma; no fusion and no sarcoma appears in this paper. The first author's surname carries an umlaut in the source and is transliterated. The point for this concept is that EZHIP is a PRC2 ANTAGONIST, which makes it the odd member of a family whose other C-terminal halves are PRC2 components.

    Evidence that argues against this (1)
    • Calling EZHIP a 'C-terminal PcG subunit' as the family rule does is a stretch, because it is not a subunit of PRC2 - it is an inhibitor that binds one. If the rule's C-terminal category is 'anything with a PRC2 relationship' then it is broad enough to lose predictive content, and if it is 'a PRC2 subunit' then MBTD1::EZHIP is not actually a member. The rule's own most interesting instance is the one it categorises least well. Ragazzini R et al. 2019
  5. E5moderate confidence 3 of 5: One strong study, or several smaller consistent ones.review

    A 2026 review states that more than 60% of endometrial stromal sarcoma cases are associated with chromosomal translocations involving Polycomb-group genes including MBTD1, SUZ12 and PHF1, asks whether Polycomb inhibitors could serve as novel therapeutic candidates for ESS cases harbouring such fusions, and states that 'while MBTD1 is not a subunit of PRC2, it is associated with PRC1, another major component of the PcG complexes'.

    PMID 42238311DOI
    What this evidence cannot show

    A REVIEW, full text read this session via PMC13226146, and cited partly as a DOCUMENTED ERROR. The PRC1 assignment for MBTD1 IS WRONG against three primary sources: PMID 27153538 establishes MBTD1 as a stable NuA4/TIP60 subunit, PMID 32209463 solves the EPC1 contact that recruits it, and PMID 31281901 calls it 'the NuA4 subunit gene MBTD1'. MBTD1 belongs to the MBT-repeat family, which is Polycomb-group by homology, and that is presumably the origin of the slip - but PRC1 membership is a specific claim and is unsupported. THE ERROR IS LOAD-BEARING: believed, it turns this family into a Polycomb-to-Polycomb story and makes an EZH2 inhibitor look rational for a fusion whose lesion is loss of PRC2 catalysis. Confidence moderate because a review carries no primary observation.

    Evidence that argues against this (1)
    • The primary literature contradicts this review on the complex membership of the gene it pairs EZHIP with, and the therapeutic suggestion it makes does not distinguish the family members that ADD a Polycomb component from the one that POISONS it. Both defects point the same way: a secondary source that errs on a checkable primary fact should be used for pointers only, and its therapeutic inference should not be inherited by any entry in this graph. Jacquet K et al. 2016
  6. E6strong confidence 4 of 5: Replicated in peer-reviewed work by more than one group.database

    Bounded literature absence, 2026-09-23: nothing joins this fusion family to the KMT2A family in any indexed title or abstract. MBTD1[tiab] AND KMT2A[tiab] returns 0 records; MBTD1[tiab] AND EZHIP[tiab] returns 0; MBTD1[tiab] AND CXorf67[tiab] returns 4 and MBTD1[tiab] AND sarcoma[tiab] returns 6, so the entire indexed literature naming MBTD1 with its sarcoma partner is four records.

    What this evidence cannot show

    One [tiab] tag per term, never the parenthesised group form; querytranslations read back; pubmed_safe.py raises rather than returning a zero on an empty translation. THE NAME LIST IS THE INSTRUMENT HERE AND IT IS THE POINT OF THIS ENTRY'S LAST SECTION: no gene-symbol query reaches this family completely, because its defining biochemistry is framed at the level of COMPLEXES - NuA4 and PRC2 - and its founding paper is reachable by symbol only through CATACOMB, a contaminated English word returning 20 records including archaeological and anatomical uses. The complex-name forms 'NuA4' and 'TIP60' were NOT run as bare queries in this beat, which is a rule-64 gap stated rather than closed. Titles and abstracts only.

    Evidence that argues against this (1)
    • This absence is bounded by gene symbols in a family that is unreachable by gene symbols, which makes it close to uninformative as a claim about the literature. Rule 64 exists in this project because a FACT-subunit literature was declared empty while the disproving paper was cited in four other entries, and the failure was exactly this: the paper framed itself at the level of a complex. The complex-form queries should have been run and were not. Crump NT et al. 2023
  7. E7strong confidence 4 of 5: Replicated in peer-reviewed work by more than one group.review

    Low-grade endometrial stromal sarcoma bears close histopathological resemblance to proliferative-type endometrial stroma, about half harbour t(7;17)(p15;q21) with JAZF1-SUZ12 fusion, and less common JAZF1-PHF1, EPC1-PHF1, MEAF6-PHF1 and MBTD1-CXorf67 fusions have also been reported, while high-grade endometrial stromal sarcoma was re-introduced as a category after the discovery of t(10;17)(q22;p13) yielding YWHAE-NUTM2A/B.

    PMID 29275929DOI
    What this evidence cannot show

    A REVIEW, abstract-level, cited as a map of a classification this beat has no independent competence in. It adds no cases and is not independent of the founding reports. Note the collision it surfaces: high-grade ESS is t(10;17)(q22;p13) while the ZMYND11::MBTD1 leukaemia is t(10;17)(p15;q21) - same chromosome pair, different arms, unrelated genes, unrelated diseases - so a query or a reader matching on 't(10;17)' alone will conflate two entities. That collision is recorded here and in fusion-mbtd1-ezhip.

    Evidence that argues against this (1)
    • A 2018 classification is not current nomenclature and the taxonomy of these tumours has been revised repeatedly, including the reintroduction, retirement and rescoping of the 'high-grade endometrial stromal sarcoma' category within the period this literature covers. Any membership or frequency statement drawn from it should be read as 'as of 2018, and repeated unchanged in a 2026 review' rather than as current. Yu X et al. 2026
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