Abbreviations: BMP, bone morphogenetic protein; BMPR, bone morphogenetic protein receptor; MFH, malignant fibrous histiocytoma Background: Bone morphogenetic protein (BMP) activity has been found in cases of malignant fibrous histiocytoma (MFH) and osteosarcoma but only tumors in the latter category show evidence of ossification. The aim of this study was to try to understand this difference by examination of the distribution of BMP and its receptors (BMPR) for this bone inducing protein in these tumors. Methods: Sections of 11 osteosarcoma and 10 MFH were analyzed immunohistochemically for BMP and BMPRs by use of the avidin-biotin peroxidase method. Results: Nine out of 11 osteosarcoma cases (80.1%) showed positive staining for both BMP and BMPRs. Two cases of chondroblastic type osteosarcoma did not show any significant staining for BMP and BMPRs. In eight out of 10 MFH cases (80%) there was positive staining for BMP. No immunoreactivity for BMPRs was found in any case of MFH. Conclusions: MFH does not express BMPRs and this may be the reason why MFH tumors do not ossify, even in the presence of BMP.
We report on clinical and molecular findings in five karyotypic males (cases 1-5) and one karyotypic female (case 6) with distal 9p monosomy. Cases 1-3 and 6 had female external genitalia, case 4 showed ambiguous external genitalia, and case 5 exhibited male external genitalia with left cryptorchidism and right intrascrotal testis. Gonadal explorations at gonadectomy in cases 3 and 4 revealed that case 3 had left streak gonad and right agonadism, and case 4 had bilateral hypoplastic testes. Endocrine studies in cases 1-4 and 6 showed that cases 1, 3, and 6 had definite primary hypogonadism, with basal FSH levels of 54, 39, and 41 IU/L, respectively, whereas case 2 with severe malnutrition was unremarkable for the baseline values, and case 4 had fairly good testicular function. Fluorescence in situ hybridization and microsatellite analyses demonstrated that all cases had hemizygosity of the 9p sex-determining region distal to D9S1779, with loss of the candidate sex-determining genes DMRT1 and DMRT2 from the abnormal chromosome 9. Sequence analysis in cases 1-4 and 6 showed that they had normal sequences of each exon of DMRT1 and the DM domain of DMRT2 on the normal chromosome 9, and that cases 1-4 had normal SRY sequence. The results provide further support for the presence of a sex-determining gene(s) on distal 9p and favor the possibility of DMRT1 and/or DMRT2 being the sex-determining gene(s). Furthermore, as hemizygosity of the 9p sex-determining region was associated with a wide spectrum of gonadogenesis from agonadism to testis formation in karyotypic males and with primary hypogonadism regardless of karyotypic sex, it is inferred that haploinsufficiency of the 9p sex-determining gene(s) primarily hinders the formation of indifferent gonad, leading to various degrees of defective testis formation in karyotypic males and impaired ovary formation in karyotypic females.
The complex valgus deformity of the right ankle of a 24-year-old Maffucci syndrome man was corrected by three-dimensional osteotomy followed by limb lengthening. Before surgical correction of the deformity, we used computed tomography data to make a life-size three-dimensional plastic model of the deformed ankle for an accurate understanding of the anatomical deformity. We then used this model to perform a simulated osteotomy. The real osteotomy was performed immediately afterwards and valgus and recurvatum deformities were corrected accurately. We recommend simulated surgery using a three-dimensional plastic model which will improve the pre-operative planning technique and the accuracy of the end results.
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