Beyond the Spectrum: A Case Report of Phelan-McDermid Syndrome and the Atypical Teratoid/Rhabdoid Tumor Co-Occurrence
Acta Cytologica, ss.1-7, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2026
- Doi Numarası: 10.1159/000553440
- Dergi Adı: Acta Cytologica
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, MEDLINE
- Sayfa Sayıları: ss.1-7
- Anahtar Kelimeler: Atypical teratoid rhabdoid tumor, Case report, Chromosomal microarray, Phelan-McDermid syndrome, SHANK3
- Hacettepe Üniversitesi Adresli: Evet
Özet
Introduction: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder most often caused by terminal 22q13.3 deletions involving SHANK3. Although primarily associated with developmental delay, hypotonia, and autism spectrum disorder-like features, rare reports have described atypical teratoid/rhabdoid tumor (AT/RT) in PMS, suggesting a potential oncogenic link. Case Presentation: We report the clinical, molecular, and treatment features of a child with PMS and AT/RT and review previously published cases. The proband presented with global developmental delay, absent speech, hypotonia, joint laxity, and characteristic dysmorphic features. Chromosomal microarray revealed a ∼2.26 Mb terminal deletion at 22q13.32q13.33, encompassing 31 OMIM-listed genes including SHANK3. At 6 months of age, he was diagnosed with AT/RT and treated with multimodal chemotherapy and craniospinal radiotherapy, achieving remission. Literature review identified additional PMS patients with AT/RT, supporting a role for 22q instability in tumorigenesis. Conclusion: This case highlights a rare but clinically significant association between PMS and AT/RT. Awareness of this potential link and careful radiotherapy planning are warranted to optimize outcomes in affected individuals.