No abstract

We present a premature newborn of 32 wk of gestation with a congenital malignant extrarenal rhabdoid tumor (MERT) on the right shoulder with generalized metastases. Standard histologic, immunohistochemical, molecular and cytogenetic methods were used in the evaluation of diagnostic material. Biopsy of a skin lesion showed the histologic features of a malignant rhabdoid tumor. Cytogenetic analysis of the tumor cells revealed an inv(11)(p13p15) and additionally, an increased expression of myf-3 (myogenic determination factor, MyoD1) and PAX3 was detected. These results suggest an origin of the neoplasm derived from a pluripotent cell with the potential of myogenic differen- Malignant extrarenal rhabdoid tumor (MERT) is a rare highly malignant tumor of unknown origin, mainly found in small children and with a mostly fatal clinical outcome. We present a case of a premature female newborn of 32 wk of gestation with a large s.c. tumor on the right shoulder and disseminated metastases already detected by sonography at the 30th week of gestation. Histopathology, molecular-and cytogenetic examinations suggest a pluripotent cell with the possibility of myogenic differentiation.MERT shares similar histologic, immunohistochemical, ultrastructural, and clinical features with malignant renal rhabdoid tumor (MRRT) (1-4). Many extrarenal locations have been described including the CNS, liver, soft tissue, and skin (5-10). The median age at presentation is 10 to 13 mo. Histologically, the neoplasm consists of a monotonous population of large polygonal tumor cells with eccentric nuclei and prominent nucleoli. Inclusions of eosinophilic hyaline aggregates displacing the nucleus are commonly seen. Electron microscopy demonstrates specific large cytoplasmic whorls of intermediate filaments and no signs of differentiation. Immunohistochemically the cells are uniformly vimentin positive, all other immunostainings have a variable reactivity suggesting tissue heterogeneity and various cell differentiation (1,(11)(12)(13)(14). CASE REPORTA 32-year-old gravida-5 para-3 had an uneventful pregnancy until 31 wk of gestation when she was admitted to the hospital for premature labor. A routine scan at 20 wk of gestation was normal. The mother had previously delivered three healthy boys, one pregnancy ended in an early spontaneous abortion.An abdominal ultrasound at 31 wk of gestation revealed a 5.6 ϫ 8.8 cm cystic-solid tumor at the right shoulder (Fig. 1) and a sacral tumor measuring 1.5 ϫ 1.5 cm. Due to a symptomatic polyhydramnion 1000 mL of the amniotic fluid was drained.

No abstract

This study reports a new X-linked agammaglobulinemia (XLA) mutation and its phenotypic features in a 6(1/2)-year-old boy. Different clinically defined subtypes of XLA may exist according to different genetic alterations and to other defect signalling molecules or pathways of B cell maturation.