A novel chromosomal rearrangement associated with therapy-related acute leukemia.

We describe a 7-year-old girl with therapy-related acute myeloid leukemia (AML) associated with a single and novel karyotypic abnormality. The patient had been treated with alkylating agents and etoposide for hypothalamic pilocytic astrocytoma at age 17 months, and developed mixed lineage AML. Cytogenetic analysis of the leukemic blasts showed 46,XX,der(7)t(7;11)(q22;q14) in all cells examined. Southern blot analysis revealed three copies of an unrearranged MLL gene on chromosome 11q. This is the first report of a triplicated, unrearranged MLL gene in association with a deletion of 7q anomaly and an unbalanced translocation in therapy-related leukemia.

Ewing's tumor and papillary adenocarcinoma of the thyroid in a 14-year-old girl.

PURPOSE: We describe an adolescent girl with Stage 1 Ewing's tumor and localized papillary adenocarcinoma of the thyroid gland, a previously unreported association. PATIENTS AND METHODS: A 14-year-old girl with right axillary adenopathy was evaluated. RESULTS: Ewing's tumor was diagnosed after a lymph node biopsy. A magnetic resonance imaging scan of the axilla, chest wall, and neck demonstrated a nodule in the right lobe of the thyroid gland. A biopsy revealed papillary adenocarcinoma. CONCLUSIONS: This is the first report of Ewing's tumor and carcinoma of the thyroid in the same patient.

The unique association of malignant histiocytosis and a primary gonadal germ cell tumor.

Previous reports of the association between hematologic malignancies and germ cell tumors have been limited to patients with nonseminomatous tumors, exclusively of mediastinal origin. Among the various hematologic disorders, a large proportion have involved histiocytic tumors, either acute monocytic leukemia or malignant histiocytosis. We now report the first case of simultaneously occurring malignant histiocytosis and testicular embryonal carcinoma. The patient, an 18-year-old male, presented with hepatosplenomegaly due to malignant histiocytosis and was found on further evaluation to have a stage I testicular cancer consisting of teratocarcinoma with endodermal sinus elements. Despite aggressive chemotherapy, the patient died of malignant histiocytosis 6 months after the original diagnosis. The autopsy revealed widespread organ involvement with malignant histiocytosis and no evidence of residual germ cell tumor. This case demonstrates that germ cell tumors associated with hematologic malignancy do not arise solely in extragonadal sites.

Cystic pulmonary metastatic sarcoma.

Neoplastic cavitary lesions are an unusual type of pulmonary metastases. The authors report two cases of cystic metastatic sarcoma of the lungs that illustrate the clinical, radiologic, and pathologic difficulties encountered in the diagnosis of these lesions. In one patient, multiple small, thin-walled cystic metastases from a lower leg leiomyosarcoma were the only manifestation of metastatic disease. The cystic lesions did not change over an 8-month period and a diagnosis of malignancy was not established until spontaneous pneumothorax, presumably due to rupture of the malignant blebs, prompted a thoracotomy. In the second patient, three thin-walled bullae developed after treatment of noncystic pulmonary metastases from a lower-leg synovial sarcoma. In both patients, the cystic lesions were not evident on chest radiographs, but were well visualized with computed tomography (CT), where they mimicked benign bullous disease. However, additional small cavitary lesions not seen with CT were present in resected pulmonary wedge specimens from both patients. A great degree of variability in the cellular composition of the cyst wall lining in both cases, and a lack of any solid neoplastic tissue masses in one case, led to histopathologic difficulties that required immunohistochemical studies for definitive diagnosis of the metastatic disease. These cases show that pulmonary bullae, even though thin-walled and benign-appearing on CT, may be a manifestation of pulmonary metastases. These lesions must therefore be surgically removed from patients in whom a curative resection of pulmonary metastases is warranted.