# A 16‐year‐old female with an intrasellar mass

**Authors:** Yinbo Xiao, Can Yin, Junliang Lu, Shuangni Yu, Zhen Huo, Zhiyong Liang

PMC · DOI: 10.1111/bpa.70002 · Brain Pathology · 2025-03-04

## Full-text entities

- **Genes:** MYOG (myogenin) [NCBI Gene 4656] {aka MYF4, bHLHc3, myf-4}, SYP (synaptophysin) [NCBI Gene 6855] {aka MRX96, MRXSYP, XLID96}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, CDIPT (CDP-diacylglycerol--inositol 3-phosphatidyltransferase) [NCBI Gene 10423] {aka PIS, PIS1}, TBX19 (T-box transcription factor 19) [NCBI Gene 9095] {aka TBS19, TPIT, dJ747L4.1}, MYOD1 (myogenic differentiation 1) [NCBI Gene 4654] {aka CMYO17, CMYP17, MYF3, MYOD, MYODRIF, PUM}, SYNM (synemin) [NCBI Gene 23336] {aka DMN, SYN}, POMC (proopiomelanocortin) [NCBI Gene 5443] {aka ACTH, CLIP, LPH, MSH, NPP, OBAIRH}, DES (desmin) [NCBI Gene 1674] {aka CDCD3, CSM1, CSM2, LGMD1D, LGMD1E, LGMD2R}, DICER1 (dicer 1, ribonuclease III) [NCBI Gene 23405] {aka DCR1, Dicer, Dicer1e, GLOW, HERNA, K12H4.8-LIKE}, SF1 (splicing factor 1) [NCBI Gene 7536] {aka BBP, D11S636, MBBP, ZCCHC25, ZFM1, ZNF162}, ATRX (ATRX chromatin remodeler) [NCBI Gene 546] {aka JMS, MRX52, RAD54, RAD54L, XH2, XNP}, PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) [NCBI Gene 5290] {aka CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP}, POU1F1 (POU class 1 homeobox 1) [NCBI Gene 5449] {aka CPHD1, GHF-1, PIT1, POU1F1a, Pit-1}
- **Diseases:** blurred vision (MESH:D014786), corticotroph tumor/adenoma (MESH:D049913), Cushing's disease (MESH:D047748), IMAGING (MESH:C564543), intracranial sarcoma (MESH:D012509), vomiting (MESH:D014839), DICER1 syndrome (MESH:D013577), weight gain (MESH:D015430), adenoma (MESH:D000236), Corticotrophin tumor (MESH:D009369), rhabdomyosarcoma (MESH:D012208), purpura (MESH:D011693), CNS tumor (MESH:D016543), tumor predisposition (OMIM:614327), Cushing (MESH:D003480), DIAGNOSIS (MESH:D001523), Primary intracranial sarcoma (MESH:C536413), PitB (MESH:D018202), headache (MESH:D006261), pituitary adenomas (MESH:D010911), blepharoptosis (MESH:D001763)
- **Chemicals:** cortisol (MESH:D006854), Hematoxylin (MESH:D006416), BPA-24-07-CI-180-R4.svs (-), dexamethasone (MESH:D003907)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** p.N247I, p.Asp1810Tyr, c.4860dup, c.5428G>T, p.Cys1621Leufs*31, c.740A>T, c.594+1G>T
- **Cell lines:** INSM-1 — Mus musculus (Mouse), Hybridoma (CVCL_KG30)

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11961203/full.md

## References

3 references — full list in the complete paper: https://tomesphere.com/paper/PMC11961203/full.md

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Source: https://tomesphere.com/paper/PMC11961203