Oncofusion

start / graph / ana-q115-the-infant-kmt2a-idh-status-absence-survives-and-the-paper-that-certainly-measured-it-was-opened

Analysisstrong confidence 4 of 5: Replicated in peer-reviewed work by more than one group.Q115-absence-rebound

The cohort paper this graph said had certainly measured IDH status was opened: 96,537 characters of full text contain IDH1 zero times, IDH2 zero times, TET2 zero times and DNMT3A zero times, so the measured-not-reported class is confirmed by reading rather than by inference

also called Q115 infant IDH re-bound · PMID 41062506 opened

Whole-genome sequencing of thirty-six infants and children with relapsed KMT2A leukaemia would have detected mutations in the IDH genes as a matter of course, and this project assumed the result was simply never written down. Opening the paper confirms it: the two gene names appear nowhere in it.

The same thing, for a scientist

`absence-no-infant-kmt2a-cohort-has-reported-idh-status` states that no title or abstract reports IDH status in a paediatric KMT2A-rearranged cohort, and adds that **PMID 41062506 has certainly MEASURED it** - whole-genome and whole-exome sequencing of 36 infants and children with relapsed KMT2A-rearranged ALL/AML plus 257 longitudinal samples - **because WGS/WES calls IDH1 and IDH2 as a matter of course.** That was an inference from assay type. **It has now been checked by reading.** The full text (PMC12508131, 96,537 characters, Europe PMC `fullTextXML`) contains **`IDH1` 0 times, `IDH2` 0 times, `TET2` 0 times and `DNMT3A` 0 times** [E1]. **The measured-not-reported class is confirmed, and by the strongest available route: the words are not in the paper.** The corpus-wide half of the claim is **not** re-bounded here. `(IDH1 OR IDH2) AND KMT2A clause AND (infant OR infants OR pediatric OR paediatric)` returns **815** full-text records and `(IDH1 OR IDH2) AND (t(4;11) OR KMT2A::AFF1 OR MLL-AF4)` returns **246**, against an operand of 35,971 for IDH1/IDH2 [E2]. **Neither was screened. 815 titles is the unrun step and this entry says so rather than implying a bound it does not have.**

Go deeper
Why a word count is the right instrument here and a weak one elsewhere

For most claims a zero word count in a full text is weak, because the measurement can live in a figure. For a named gene in a sequencing cohort it is strong, because a variant call is reported as a symbol - in a table, a figure legend, an oncoprint label or the text - and all of those are in the fullTextXML body. What it does not cover is a supplementary spreadsheet, which is a separate file and was not retrieved.

So the precise statement is: the paper's own text and tables do not mention IDH1, IDH2, TET2 or DNMT3A. Its supplementary variant tables were not opened. That is one download away from being settled completely and is the single cheapest remaining step on this entry.

Facts and figures
scriptnone - one full-text read and five Europe PMC BODY: counts, 2026-09-22
statusrun
verdictThe NAMED-PAPER half is CONFIRMED by reading. The CORPUS-WIDE half is NOT re-bounded; the burden is quantified instead.
entry re boundedabsence-no-infant-kmt2a-cohort-has-reported-idh-status
cheapest remaining stepdownload the supplementary variant tables of PMID 41062506 and grep for IDH1 and IDH2. If the calls are there, the absence closes outright and this graph gains IDH status for 36 relapsed paediatric KMT2A-rearranged cases.
absence classmeasured-not-reported
absence class basisCONFIRMED BY READING rather than inferred from assay type. PMC12508131 is named as the accession and its body contains none of the four gene symbols. The class is unchanged but its basis is now an observation.
queries not screened
IDH1 AND "infant acute ly…20.0IDH1 AND "infant acute lymphoblastic leukemia": 20IDH2 AND infant AND KMT2A…31.0IDH2 AND infant AND KMT2A-rearranged: 31IDH1 AND infant AND KMT2A…43.0IDH1 AND infant AND KMT2A-rearranged: 43(IDH1 OR IDH2) AND (t(4;1…246.0(IDH1 OR IDH2) AND (t(4;11) OR KMT2A::AFF1 OR MLL-AF4): 246(IDH1 OR IDH2) AND KMT2A …815.0(IDH1 OR IDH2) AND KMT2A clause AND (infant OR infants OR pediatric OR paediatric): 815(IDH1 OR IDH2)35,971(IDH1 OR IDH2): 35971
paper opened
{
  "pmid": "41062506",
  "pmcid": "PMC12508131",
  "chars": 96537,
  "route": "EPMC fullTextXML",
  "occurrences": {
    "IDH1": 0,
    "IDH2": 0,
    "TET2": 0,
    "DNMT3A": 0
  }
}
queries not screened — the numbers behind the chart
[
  {
    "q": "(IDH1 OR IDH2) AND KMT2A clause AND (infant OR infants OR pediatric OR paediatric)",
    "hits": 815
  },
  {
    "q": "(IDH1 OR IDH2) AND (t(4;11) OR KMT2A::AFF1 OR MLL-AF4)",
    "hits": 246
  },
  {
    "q": "IDH1 AND infant AND KMT2A-rearranged",
    "hits": 43,
    "note": "screenable, not screened"
  },
  {
    "q": "IDH2 AND infant AND KMT2A-rearranged",
    "hits": 31,
    "note": "screenable, not screened"
  },
  {
    "q": "IDH1 AND \"infant acute lymphoblastic leukemia\"",
    "hits": 20,
    "note": "screenable, not screened"
  },
  {
    "q": "(IDH1 OR IDH2)",
    "hits": 35971,
    "role": "operand control"
  }
]
Still open
  1. Do the supplementary variant tables of PMID 41062506 contain IDH1 and IDH2 calls for the 36 patients? One download settles the entry and would give this graph the first paediatric KMT2A-rearranged IDH frequency.
  2. The three screenable tighter intersections - 43, 31 and 20 records - were counted and not read. Reading 94 titles would re-bound the corpus-wide half of this absence.
  3. Is the 36-patient cohort deposited in a controlled-access archive, and would a data-access request reach the variant calls even if the supplement does not?
Every source behind this entry (2)
  1. E1established confidence 5 of 5: Multiple independent lines of evidence; treated as settled in the field.paper

    The full text of the relapsed infant and childhood KMT2A-rearranged genomic landscape paper contains zero occurrences of IDH1, IDH2, TET2 and DNMT3A across 96,537 characters.

    What this evidence cannot show

    Retrieved 2026-09-22 through Europe PMC fullTextXML; the <body> element was present and the document is 96,537 characters after tag stripping. Supplementary data files were NOT retrieved, and a Nature Communications variant table is normally a separate .xlsx. A count of zero in the body is therefore a statement about the paper as published in text, not about the underlying variant calls.

    Evidence that argues against this (1)
    • The strongest counter is the one the entry itself makes: WGS/WES calls these genes whether or not the authors discuss them, so the variant status almost certainly exists in a supplementary table or in a controlled-access deposit. A zero in the body is consistent with the data existing and being one click away, which is exactly what measured-not-reported means - and it would be wrong to read this count as evidence that IDH was not assayed. Nature Communications 2025
  2. E2strong confidence 4 of 5: Replicated in peer-reviewed work by more than one group.database

    The corpus-wide full-text intersections are too large to screen within this beat: IDH1/IDH2 with a KMT2A clause and infant/paediatric terms returns 815 records and with t(4;11) spellings 246, against an IDH1/IDH2 operand of 35,971.

    What this evidence cannot show

    Europe PMC BODY: reaches only the 12,362,145 full texts the index holds. A congress abstract book is one document holding thousands of unrelated abstracts and matches almost any conjunction; across this beat's 18 fully-read intersections 83 of 321 records (25.9%, range 0-50%) are proceedings. Screening was at TITLE level unless a paper is listed as opened. Neither of the two large intersections was screened at all, so no zero is asserted from them. They are reported as a reading burden so the next beat knows the size of the unrun step. Tighter forms were tried and remain large: IDH1 x infant x KMT2A-rearranged 43, IDH2 x infant x KMT2A-rearranged 31, IDH1 x 'infant acute lymphoblastic leukemia' 20.

    Evidence that argues against this (1)
    • Three tighter forms returning 43, 31 and 20 ARE screenable and were not screened. This beat ran the counts and stopped, which means the corpus-wide half of this absence could have been re-bounded for the cost of reading 94 titles and was not. Europe PMC 2026
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