Solid Tumor Abnormalities

University of Wisconsin - Madison

Waisman Center Cytogenetics Lab

 

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Alveolar Rhabdomyosarcoma - rhabdomyosarcoma in general is the most common soft tissue sarcoma of children under 15 years of age and one of the most common soft tissue sarcoma of adolescents and young adults. Alveolar rhabdomyosarcoma predominates in an older age group (10 to 25 years) and occurs more frequently in the extremities.

Askin's Tumor - malignant small cell tumor of the thoracopulmonary region in childhood, more related to PNET.

Breast Carcinoma - malignant neoplasm of the terminal duct lobular unit (TDLU) of the breast, prognosis depends on grade and variants.

Colorectal Adenoma - benign neoplasm, may progress to carcinoma, so follow-up is required.

Ewing's Sarcoma / PNET - member of the small round cell neoplasm of bone and soft tissues; in children it is genetically known as primitive neuroectodermal tumor (PNET.) It is usually seen in patients between 5 and 20 years of age. Cells usually contain large amounts of glycogen. CD99 is a cell membrane protein coded by a gene located on the short arm of X and Y chromosomes that is consistently expressed by the cells of Ewing's Sarcoma/PNET. The most common translocation results in the fusion of EWS and FLI genes.

Extraskeletal Myxoidchondrosarcoma (also called chordoid sarcoma) - a variant of chondrosarcoma that can occur in bone or in soft tissue. It is morphologically reminiscent of chordoma, but ultrastructurally closer to chondrosarcoma, with a less aggressive behavior.

Intraabdominal Desmoplastic Small Cell Tumor - neoplasm presenting as a single mass or multiple nodules within the abdominal cavity in adolescent and young adults (usually male.) It displays simultaneous expression of epithelial, muscular and neural markers. The genes involved are EWS gene in 22q12 and the WT1 (Wilm's tumor gene 1) in 11p13.

Malignant Melanoma - neoplasm of melanocytes.

Malignant Papillary Renal Cell Carcinoma - variant of renal cell carcinoma, tends to be localized to the kidney.

Meningiomas - neoplasm of meningothelial cells.

Myxoid Liposarcoma - most common type of liposarcoma which is the second most frequent soft tissue sarcoma in adults. Myxoid sarcoma shows a predilection for the lower extremities. The translocation results in rearrangement of transcription factor gene CHOP which is involved in adipocyte differentiation.

Neuroblastoma - childhood tumors of the sympathoadrenal nervous system.

Non Small Cell Carcinoma of the Lung - pulmonary malignant neoplasm including squamous cell carcinoma, adenocarcinoma, large cell carcinoma and variants.

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Papillary Carcinoma of the Thyroid - most common type of thyroid malignancy.

Pleomorphic Adenoma of the Salivary Glands - benign neoplasm.

Primitive Neuroectodermal Tumor - PNET, see Ewing's Sarcoma

Renal Cell Carcinoma - malignant neoplasm with differentiation in the direction of proximal renal tubules.

Retinoblastoma - most common intraocular neoplasm of children.

Small Cell Carcinoma of the Lung - comprises about 10-20% of all lung cancers with differentiation toward neuroendocrine cells.

Sporadic Typical Lipoma - benign neoplasm of adipose tissue.

Synovial Sarcoma - in 80% of the cases arises around the knee and ankle joints of young adults and children. Typically, it has a biphasic pattern resulting from admixture of gland-like areas and a sarcomatous stroma but monophasic synovial sarcoma composed of either epithelial or sarcomatous elements can occur. Prognosis is related to age, site, size, necrosis, rhabdoid cells and DNA ploidy pattern.

Testicular Germ Cell Tumor - includes seminoma, embryonal carcinoma, teratoma and choriocarcinoma. Seminoma comprises 30-40% of all testicular tumors.

Uterine Leiomyoma - benign tumor of the uterus.

Uveal Melanoma - neoplasm of melanocytes.

Wilm's Tumor - renal childhood tumor, prognosis depends on stage.

University of Wisconsin Cytogenetic Services