Table 1.
Clinicopathological and molecular features of primary thyroid RMS cases reported herein and in the literature.
| Case | Age (sex) | Size, cm | Molecular investigations | Tumour extension | Pathological examination |
Treatment | Follow-up | ||
|---|---|---|---|---|---|---|---|---|---|
| Histological description | Immunohistochemical profile | Diagnosis | |||||||
| Furze et al (2005) [5] | 7 months (M) | 5 | NA | Left piriform sinus Clavicule, cricoid cartilage. | Spindle cells. | NA | Embryonal RMS | Lobectomy and chemotherapy | Alive (9 months) |
| Dutta et al (2013) [4] | 7 years (M) | 6.5 | NA | Strap muscles, right SCM, carotid, clavicle | Spindle cells, scattered rhabdomyoblasts. | Desmin, myogenin: + Cytokeratin, CD34, CD31: − |
Embryonal RMS | Lobectomy and chemotherapy | Neck recurrence leading to chemotherapy and radiotherapy. Alive (4 years) |
| Ozaslan et al (2016) [6] | 68 years (M) | 5 | NA | Mediastinum, oesophagus recurrent laryngeal nerve. | Spindle cells, scattered rhabdoid cells. | Desmin: + AE1-AE3, Actin, TTF1: − |
Pleomorphic RMS | Total thyroidectomy | NA |
| Febrero et al (2017) [7] | 67 years (M) | 6 | NA | Intrathoracic, large veins thrombosis, auricular thrombosis | Small cells, scattered rhabdomyoblasts. | Desmin, actin, myogenin: + AE1-AE3, EMA, CEA, TTF1: − |
RMS | Biopsy | Died 48 h after surgery (cardiac insufficiency) |
| Current case | 61 years (F) | 4.6 | NF1 c.6852_6855del, PTEN c.860C>G and TERT promoter (c.-146C>T). | SCM, carotid, recurrent nerve | Spindle cells, scattered rhabdomyoblasts. | Desmin, MyoD1, Myogenin: + AE1-AE3, EMA, CEA, TTF1, PAX8, Tg: − |
Pleomorphic RMS | Biopsy followed by chemotherapy and radiotherapy then total thyroidectomy | Alive (10 months) No recurrence |
Abbreviations: F: Female; M: Male; NA: Not available; RMS: Rhabdomyosarcoma; SCM: sternocleidomastoid muscle; TG: thyroglobulin.