<CLINICAL REPORT>Computed Tomography and Ultrasound Study in Craniofacial Fibrous Dysplasia

24歳の女性に認められたcraniofacial fibrous dysplasiaの検索に際して,病変の範囲を確認する目的で,CT検査と超音波検査を行った。また,病変が単骨peであるか多骨性であるかを鑑別するために^TC標識methylene diphosphonateによる骨シンチグラフィーを実施した.CT検査により,右側下顎骨に存在する嚢胞様病変と右側上顎骨に存在する骨性病変が明かにされた。また,骨性病変の著しい増大による右側上顎洞と右側篩骨洞の縮小も明らかとなった。超音波検査では,病変の細部にわたる観察は不可能であったが,右側上顎骨における骨性病変の存在と,右側下顎骨の著しい膨隆を確認することが可能であった。骨シンテグラフィーでは,顎顔面領域に強い陽性像を認めるものの,その他の骨格系には何らの異常も認められなかった。従って,本症例は,polyostotic fibrous dysplasiaの1型であるcraniofacial fibrous dysplasiaであるとの鑑別が可能であった。In diagnosing craniofacial fibrous dysplasia observed in a 24-year-old woman, computed tomography and ultrasound study were used to define the extent of the bony lesions. Bone scintigraphy with ^Tc labeled methylene diphosphonate was also carried out to differentiate the disease to be monostotic or polyostotic. The sagittal and coronal scan CT images showed a monocystic bony lesion with a mottled appearance in the right mandible, which was growing toward the ramus. The axial scan CT images demonstrated a thickened ramus in the right mandible, an expansible bony lesion in the right maxilla, an increased osseous mass occupying the almost half of the right maxillary sinus, and the almost entirely closed right ethmoidal sinus. Expansible diploe in the right side of the patient\u27s skull was also observed. The ultrasound images with axial scans revealed an expansible lesion in the right mandible and an osseous mass in the right maxilla. The bone scan images showed no abnormalities in the whole body skeleton except for the remarkable uptakes in the craniofacial regions

The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population

<p>Abstract</p> <p>Background</p> <p>Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms (MPNs) characterized in most cases by a unique somatic mutation, <it>JAK2 </it>V617F. Recent studies revealed that <it>JAK2 </it>V617F occurs more frequently in a specific <it>JAK2 </it>haplotype, named <it>JAK2 </it>46/1 or GGCC haplotype, which is tagged by rs10974944 (C/G) and/or rs12343867 (T/C). This study examined the impact of single nucleotide polymorphisms (SNPs) of the <it>JAK2 </it>locus on MPNs in a Japanese population.</p> <p>Methods</p> <p>We sequenced 24 <it>JAK2 </it>SNPs in Japanese patients with PV. We then genotyped 138 MPN patients (33 PV, 96 ET, and 9 PMF) with known <it>JAK2 </it>mutational status and 107 controls for a novel SNP, in addition to two SNPs known to be part of the 46/1 haplotype (rs10974944 and rs12343867). Associations with risk of MPN were estimated by odds ratios and their 95% confidence intervals using logistic regression.</p> <p>Results</p> <p>A novel locus, rs4495487 (T/C), with a mutated T allele was significantly associated with PV. Similar to rs10974944 and rs12343867, rs4495487 in the <it>JAK2 </it>locus is significantly associated with <it>JAK2</it>-positive MPN. Based on the results of SNP analysis of the three <it>JAK2 </it>locus, we defined the "GCC genotype" as having at least one minor allele in each SNP (G allele in rs10974944, C allele in rs4495487, and C allele in rs12343867). The GCC genotype was associated with increased risk of both <it>JAK2 </it>V617F-positive and <it>JAK2 </it>V617F-negative MPN. In ET patients, leukocyte count and hemoglobin were significantly associated with <it>JAK2 </it>V617F, rather than the GCC genotype. In contrast, none of the <it>JAK2 </it>V617F-negative ET patients without the GCC genotype had thrombosis, and splenomegaly was frequently seen in this subset of ET patients. PV patients without the GCC genotype were significantly associated with high platelet count.</p> <p>Conclusions</p> <p>Our results indicate that the C allele of <it>JAK2 </it>rs4495487, in addition to the 46/1 haplotype, contributes significantly to the occurrence of <it>JAK2 </it>V617F-positive and <it>JAK2 </it>V617F-negative MPNs in the Japanese population. Because lack of the GCC genotype represents a distinct clinical-hematological subset of MPN, analyzing <it>JAK2 </it>SNPs and quantifying <it>JAK2 </it>V617F mutations will provide further insights into the molecular pathogenesis of MPN.</p