Embryonal rhabdomyosarcoma is an exceedingly rare tumor in adult. We report an embryonal rhabdomyosarcoma of the ethmoid in a 59-year-old Iban lady who presented with proptosis and complete ptosis of her left eye for two months. Imaging investigations showed left ethmoidal and left orbital soft tissue mass with extradura and dura involvement. The patient was planned for chemotherapy. Unfortunately, in such an advanced disease, she succumbed before treatment.
Embryonal rhabdomyosarcoma of external ear canal is very rare, even in the pediatric population. We report an embryonal rhabdomyosarcoma of external acoustic canal, occurring in a 12-year-old Chinese girl who presented with left ear canal mass. Wide local excision of the mass was done under local anesthesia. Histopathological examination revealed the diagnosis. She then underwent 20 cycles of radiotherapy. CECT scan post treatment showed clearance of tumor cell. Now, patient is disease free for 5 years. We believe that early diagnosis followed by complete resection of the tumor with clear margin and radiotherapy improves the prognosis of the disease.
We reported a case of orbital rhabdomyosarcoma with an intracranial extension in an HIV-infected child. It was an uncommon sarcoma in a retroviral-positive patient that resulted in a diagnostic and therapeutic dilemma. The child is currently asymptomatic following surgery, chemotherapy, and reinstitution of highly active retroviral therapy (HAART).
Temporal bone rhabdomyosarcoma is an aggressive entity that simulates chronic otitis ear infection. It is the most common soft tissue sarcoma amongst pediatric patients. Herein, we would like to report a case of temporal bone rhabdomyosarcoma involving a 2-year-old boy who presented with a one-month history of otorrhea with facial asymmetry. Early treatment led to remission of this severe neoplasm.
We report on a Malaysian kindred with Li-Fraumeni syndrome. The proband was an 8-year-old girl who presented with embryonal rhabdomyosarcoma of the trunk at the age of 8 months and developed a brain recurrence at the age of 7 years, which was 5 years after remission. A younger sister later developed adrenocortical carcinoma at the age of 6 months. Their mother and maternal grandmother were diagnosed with breast cancer at the ages of 26 and 38 years, respectively. TP53 mutation detection in this family revealed a duplication of a GGCGTG motif starting at nucleotide 17579 in exon 10, resulting in an in-frame insertion of two amino acids between residues 334 and 336 in the tetramerization domain of the p53 protein. This mutation was found in the proband and her affected sister as well as her mother. In addition, the mutation was detected in two other siblings (a brother aged 3 years and a sister aged 18 months) who have not yet developed any malignancy. Sequencing of TP53 in the father and two other asymptomatic siblings revealed wild-type TP53. To our knowledge, this is a first report of a Li-Fraumeni syndrome family in Southeast Asia.