The findings were as follows.“The surgical specimen showed a lobular proliferation of tumour cells with glandular differentiation associated with a few mitotic cells, embedded in a mucinous stroma. Immunohistochemistry showed that the majority of tumour cells were positive for PAS diastase, toluidine blue, cytokeratins (CAM5.2, CK7), S-100 protein and GCDFP-15.”Although some abnormal tumours cells were present, the recorded findings the man was diagnosed with chondroid syringoma. An ultrasound and radiography were performed and revealed no indication of metastasis. However, in 2008, the man observed inflammation in his right groin area. Another ultrasound revealed a new mass also measuring 30 mm x 30mm, which was then excised. Examination of this new tumour revealed more abnormal tumour cells compared to the first nodule of the sole of the foot. The original diagnosis was thus re-examined to be consisting of malignant chondroid syringoma cells. The patient was then treated with radiation. After eighteen months he presented no evidence of recurrence or further distant metastasis. History
Hirsch and Helwig gave malignant chondroid syringoma its name in 1961 in ‘Chondroid Syringoma: Mixed Tumour of Skin, Salivary Gland Type.’ "Atypical mixed tumours of the skin,"(Hirsch and Helwig, 1961) their term for tumours characterised by "histological stigma of malignancy, local invasion, and satellite tumour nodules without proven metastases" is employed even now. As of 2011, only 43 cases have been reported. Terminology
Malignant mixed tumours also go by other names including: "malignant mixed tumour of skin, cutaneous malignant mixed tumour, metastasising chondroid syringoma, and aggressive chondroid syringoma."
Embryonal rhabdomyosarcoma is the most common in young children but there has been report of a second age peak in adolescence years. United States
As the most common form of soft tissue sarcoma, RMS affects around 4.5 people per million individuals under the age of 20 in the United States. From 1975 to 2005 in the United States, there is a lower incidence rate of rhabdomyosarcoma and better 5-year survival rates in Native Indian/Alaskan Native/Asian/Pacific Islander children compared to white or black children; however, Native Indian/Alaskan Native/Asian/Pacific Islander make up only 6.5% of the total population studied. Global
The incidence of RMS in Europe is similar to that of the United States, while the incidence in some parts of Asia is half of the United States. Etiology
Embryonal rhabdomyosarcoma results from copy number alterations as well as mutations in the RAS pathway. Genomic patterns associated with ERMS include the gains in chromosomes 8, 2, 11, 12, 13, and/or 20 and losses in chromosomes 10 and 15. Another common genomic alteration is loss of heterozygosity at chromosome 11p, the short arm of chromosome 11. It is believed that some of the identifying genetic mutations that can cause ERMS include p53 loss, RAS pathway activation, MYOD1 mutations. Patients in the fusion-negative group had different genetic mutation profiles than those in the fusion-positive group.Focusing on the fusion negative population, it was shown that the most fusion-negative tumors were caused by RAS isoform mutations.