Maffucci's syndrome is characterized by multiple enchondromas (Ollier's disease) and cavernous hemangiomas located in skin and soft tissue. This syndrome carries a greater risk of chondrosarcoma as well as nonskeletal malignancies, particulary of ovaries and brain.
Von Recklinghausen's disease of bone refers to severe bone disease of primary hyperparathyroidism characterized by increased osteoblastic activity, osteoclastic resorption, peritrabecular fibrosis, bone cyst and brown tumor (generalized osteitis fibrosa cystica).
Li-Fraumeni syndrome caused by inherited mutation of p53 is associated with greater risk of sarcomas (osteosarcoma) and other malignancies.
Gardner's syndrome is a combination of intestinal polyposis, multiple osteomas, fibromatosis and epidermal cysts.
Answer to question 2: A
Mutation of p53 (Li-Fraumeni syndrome) is associated with greater risk of sarcomas, particulary 500-fold greater risk of osteosarcoma.
Translocation (X;18) is characteristic of synovial sarcoma.
Transloction (12;16) is characteristic of myxoid liposarcoma.
1p rearrangements are characteristic for conventional chondrosarcoma.
Translocation (9;22) is characteristic for myxoid chondrosarcoma.
Answer to question 3: D
Lymphoma, neuroblastoma, mesenchymal chondrosarcoma and embryonal rhabdomyosarcoma show similar morphological features to Ewings sarcoma, characterized by small blue cell tumors. Leiomyosarcoma of bone is composed of bundles or fascicles of spindle cells.
Parosteal sarcoma is low grade (Grade 1) osteosarcoma. Periosteal osteosarcoma Grade 2, and osteoblastic osteosarcoma, telangiectatic osteosarcoma and small cell sarcoma are described as high grade sarcomas (Grade 3).
Answer to question 6: B
The epithelial component of adamantinoma expresses cytokeratins 14 and 19. CK8 and CK18 is expressed in epitheliod component of synovial sarcoma.
Neuroblastoma is the most common malignant solid tumors in children less than 1 y/o with the majority of cases (90%) diagnosed in the first 5 years of life. Neuroblastoma belongs to the group of embryonal tumors that originate from the sympathetic nervous system.
Infantile fibrosarcoam (IFS) accounts for 36%-80% of congenital cases and 36%-100% occurs in first year of life, although is not that common comparing to neuroblatoma.
Embryonal rhabdomyosarcoma is most common subtype of rhabdomyosarcoma, occuring in 3.0/milion U.S. children <15 years old. The greatest proportion (46%) of embryonal rhabdomyosarcomas occurs in children less than five year old but is not common in first year of life. Alveolar rhabdomyosarcoma occurs at all ages, more often in adolescent and young adults. They occur less frequently than embryonal rhabdomyosarcoma.
Ewing sarcoma mainly affects adolescents and young adults with nearly 80% younger than 20 y/o, and the peak incidence is during the second decade of life.
Answer to question 10: B
Giant cell fibroblastoma (GCFB) occurs most exclusively in children and represent adult form of dermatofibrosarcoma protuberans (DFSP). The lesion is positive for CD34 like DFSP. The most common location for the lesion is thigh, inguinal region and back of infants and young children, usually less than 5 y/o. It arises as painless nodule or mass in the dermis or subcutaneous fat.