Evidence map›Paper›PMID 33490314›Full record

ArticleBone reports2021

Hiding in plain sight: Gene panel and genetic markers reveal 26-year undiagnosed tumor-induced osteomalacia of the rib concurrently misdiagnosed as X-linked hypophosphatemia.

Juan M Colazo, Joseph A DeCorte, Erin A Gillaspie, Andrew L Folpe, Kathryn M Dahir

Open access · goldAbstract readCase Reports
In one paragraph

Article in Bone reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 32% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Approach to Hypophosphatemic Rickets.The Journal of clinical endocrinology and metabolism · 2022
    Article
  6. Article
  7. Article
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Juan M ColazoVanderbilt Medical Scientist Training Program, Vanderbilt University Medical Center, 2nd Floor Eskind Biomedical Library and Learning Center, Vanderbilt University School of Medicine, 2209 Garland Avenue, Nashville, TN 37240, United States of America.
Joseph A DeCorteVanderbilt Medical Scientist Training Program, Vanderbilt University Medical Center, 2nd Floor Eskind Biomedical Library and Learning Center, Vanderbilt University School of Medicine, 2209 Garland Avenue, Nashville, TN 37240, United States of America.
Erin A GillaspieDepartment of Thoracic Surgery, Vanderbilt University Medical Center, Room 609 Oxford House, 1313 21st Avenue South, Nashville, TN 37232, United States of America.
Andrew L FolpeDepartment of Laboratory Medicine and Pathology, Mayo Clinic, 200 1st St SW, Rochester, MN 55902, United States of America.
Kathryn M DahirProgram for Metabolic Bone Disorders at Vanderbilt, Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Vanderbilt University Medical Center, 8210 Medical Center East, 1215 21st Avenue South, Nashville, TN 37232-8148, United States of America.
Vanderbilt University Medical Center · USMayo Clinic · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007347 · NIGMS · VANDERBILT UNIVERSITY · PI WILLIAMS, CHRISTOPHER S. · 1985 to 2023
$26.3M
Medical Scientist Training ProgramT32GM152284 · NIGMS · VANDERBILT UNIVERSITY · PI Christopher S. Williams · 2024 to 2026
$4.8M
NIGMS NIH HHS T32 GM007347NIGMS NIH HHS T32 GM152284
6 · The paper itself

Abstract

Tumor-induced osteomalacia (TIO), caused by phosphaturic mesenchymal tumors (PMTs), is a rare paraneoplastic syndrome characterized by frequent bone fractures, bone pain, muscle weakness, and affected gait. These tumors typically secrete high levels of Fibroblastic Growth Factor 23 (FGF23), a hormone which acts on the kidney to cause hypophosphatemia, ultimately impairing bone mineralization. In this case report, we present a 41-year-old female with FGF23-mediated hypophosphatemia with a 26-year delay in TIO diagnosis and a concurrent misdiagnosis of X-linked hypophosphatemic rickets (XLH). Given an absence of family history of hypophosphatemia, a 13-gene hypophosphatemia panel including XLH (

Indexed as

68Ga-DOTATATEBurosumabChromogenic in situ hybridizationFGF23FGFR1Fibroblast growth factor 23Fibroblast growth factor receptor 1fibronectinFN1FN1-FGFR1ParaneoplasticPHEXphosphate wasting disordersPhosphaturic mesenchymal tumorphosphorousRNA sequencingTIOTumor-induced osteomalaciaXLHX-linked hypophosphatemic rickets

Identifiers

PMID33490314
PMCPMC7804981
OpenAlexW3116189793

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.