29 December 2024
: Case report 
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications
Rare disease, Rare coexistence of disease or pathology
Carolina Maya-González
BCDEF 1*, Teresita Díaz De Ståhl BCDE 2,3, Sandra Wessman BCDE 2,3, Fulya Taylan BCDE 1,4, Bianca Tesi CD 1,4,5, Kristina Lagerstedt-Robinson BCDE 1,4, Giorgio Tettamanti F 1,6, Milena Dukic BDE 7,8, Anna Poluha BCDE 7,9, Gustaf Ljungman BCDE 10, Ann Nordgren ABCDEFG 1,4,11,12
DOI: 10.12659/AJCR.945715
Am J Case Rep 2024; 25:e945715
Table 1. Summary of clinical characteristics of the patient.
| Male | |
| Unremarkable | |
| 9 years of age | |
| NM_000070.3:c.550del (NP_000061.1:p.(Thr184ArgfsTer36) and NM_000070.3:c.1342C>T (NP_000061.1:p.(Arg448Cys) | |
| Persistent tiptoe walking, symmetric Achilles tendon contracture and calf hypertrophy Shoulder and pelvic girdle muscle weakness | |
| 17 years of age | |
| Right pelvis with multiple skeletal metastases. | |
| Desmin-positive staining. CD99, NKX2-2, CD45, BCOR, Myogenin, MyoD1 and CKMNF-negative cells. | |
| – Near triploid karyotype with multiple numerical and segmental chromosomal changes– (t(11;22)(p13;q12)) fusion transcript | |
| No variants found in 189 childhood cancer predisposition genes []26 | |
| – Local radiotherapy– Systemic courses of ifosfamide, vincristine, adriamycin, ifosfamide and actinomycin-D; followed by actinomycin-D– Six months cyclophosphamide and vinorelbine | |
| 18 years of age | |
| First relapse: Left hipSecond relapse: Scalp | |
| Desmin, vimentin and NTRK (Pan-Trk antibody)-positive staining. Pan cytokeratin-negative cells. | |
| – Near triploid karyotype with multiple numerical and segmental chromosomal changes– (t(11;22)(p13;q12)) fusion transcript | |
| – Systemic 6-month therapy with topotecan, etoposide, carboplatin, and cyclophosphamide– Palliative pazopanib and radiotherapy treatment. Good response | |