Evidence map›Paper›PMID 40611284›Full record

ArticleOrphanet journal of rare diseases2025

Targeted treatment of hypophosphatemia with trametinib in HRAS-related mosaic RASopathy.

Adil Mirza, Corinne Rossi, Andreas Kulozik, Rouzbeh Banan, Felix Sahm, Semi Harrabi, Steffen Syrbe, Daniela Choukair

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

8 authors.

Adil MirzaMedical Faculty of Heidelberg, Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University, Hopp- Children's Cancer Research Center (KiTZ), Heidelberg, Germany.
Corinne RossiMedical Faculty of Heidelberg, Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University, Hopp- Children's Cancer Research Center (KiTZ), Heidelberg, Germany.
Andreas KulozikMedical Faculty of Heidelberg, Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University, Hopp- Children's Cancer Research Center (KiTZ), Heidelberg, Germany.
Rouzbeh BananMedical Faculty of Heidelberg, Department of Neuropathology, Institute of Pathology, and Clinical Cooperation Unit Neuropathology, Heidelberg University, DKFZ, Heidelberg, Germany.
Felix SahmMedical Faculty of Heidelberg, Department of Neuropathology, Institute of Pathology, and Clinical Cooperation Unit Neuropathology, Heidelberg University, DKFZ, Heidelberg, Germany.
Semi HarrabiMedical Faculty of Heidelberg, Department of Radiotherapy, Heidelberg University, University Hospital Heidelberg, Heidelberg, Germany.
Steffen Syrbe *Medical Faculty of Heidelberg, Division of Pediatric Epileptology, Centre for Pediatrics and Adolescent Medicine, Heidelberg University, Clinic 1 Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. Steffen.Syrbe@med.uni-heidelberg.de.ORCID http://orcid.org/0000-0003-2543-4844
Daniela Choukair *Medical Faculty of Heidelberg, Division of Pediatric Endocrinology and Diabetes, Centre for Pediatrics and Adolescent Medicine, Heidelberg University, Clinic 1, Heidelberg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Schimmelpenning-Feuerstein-Mims syndrome (SFMS) is a rare mosaic RASopathy associated with epidermal nevi, neurological abnormalities, and increased cancer risk. We report a 2-year-old girl with HRAS-related SFMS, aggressive orbital rhabdomyosarcoma (eRMS) and severe hypophosphatemic rickets resistant to standard therapies. Treatment with the MEK inhibitor trametinib improved phosphate regulation, reducing FGF23 levels, and led to rapid developmental progress, including independent walking. After 29 months, the patient remains in cancer remission with stable phosphate levels. This case highlights trametinib's potential in managing complex manifestations in SFMS and suggests MEK inhibitors as promising for treating mosaic RASopathies.

Indexed as

HypophosphatemiaNevus, Sebaceous of JadassohnProto-Oncogene Proteins p21(ras)PyridonesPyrimidinonesChild, PreschoolFemaleFibroblast Growth Factor-23HumansFGF23 protein, humanFibroblast Growth Factor-23HRAS protein, humanProto-Oncogene Proteins p21(ras)PyridonesPyrimidinonestrametinib

Identifiers

PMID40611284
PMCPMC12232132

What OpenQuestion holds

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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.