Tumoral and peritumoral vascularization of brain tumours: a study comparing an intraoperative ultrasensitive Doppler and a preoperative first-pass perfusion MRI.

INTRODUCTION: Surgery for gliomas can be guided by neuronavigation using magnetic resonance imaging (MRI) and intraoperative B-mode ultrasound. An ultrasensitive Doppler (USD) using plane waves is a new method of microvascularization imaging which can be used intraoperatively and could identify tumoral and peritumoral areas with neoangiogenesis but its value requires evaluation. The aim of this pilot study then was to evaluate the correlations between ultrasound measurements of glioma vascularization (tumoral and peritumoral region) obtained by a USD intraoperatively and first-pass perfusion measurements obtained on preoperative MRI. METHODS: 18 patients with proven glial tumors were selected for the analysis. They underwent preoperative MRI and intraoperative USD acquisition. The MRI scans were re-aligned to the reference ultrasound slice plane, and for each patient a segmentation of the tumoral and peritumoral zone was performed. Two perfusion parameters were studied: relative cerebral tumor blood volume (rCCBV) in MRI and fractional moving blood volume (FMBV) in a USD. We studied the correlations between mean rCCBV and mean FMBV measured in the tumoral and peritumoral zones in the reference ultrasound slice plane. RESULTS: The mean rCCBV and mean FMBV measured in the tumoral zone were significantly and strongly correlated (r = 0.80; p < 0.001). The mean rCCBV and mean FMBV measured in the peritumoral zone were not statistically correlated, although a tendency towards a correlation was noted (r = 0.45; p = 0.067). CONCLUSION: There was a good correlation between a tumor FMBV obtained by a USD intraoperatively and rCCBV on a preoperative MRI validating the reliability of USD for intraoperative analyses of tumor microvascularization in gliomas.

Cerebral localization of chronic myelomonocytic leukemia: a case report.

BACKGROUND: Chronic myelomonocytic leukemia is a myelodysplastic/myeloproliferative neoplasm characterized by the infiltration of blood and bone marrow by immature monocytes. Cerebral localization of chronic myelomonocytic leukemia has never been described. CASE PRESENTATION: We report the case of a Caucasian 59 year-old man with multiorgan chronic myelomonocytic leukemia infiltration, associated with uncommon brain involvement. There was no evidence of evolution to acute myeloid leukemia. The evidence of cerebral infiltration by chronic myelomonocytic leukemia was made after autopsy. CONCLUSIONS: The fatal outcome of the patient raises the question of the potential benefit of early specific treatment, such as demethylating agents or intensive chemotherapy. Sharing such images of atypical and rapidly evolving chronic myelomonocytic leukemia and the disease history may help clinical decision-making in the future.

A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.

BACKGROUND: Intramedullary ependymomas are rare and benign tumors in the adult. Little is known about their physiopathology, but the implication of the NF2 gene is suspected because of their presence in a third of patients with type 2 neurofibromatosis (NF2), a disorder caused by mutation of the NF2 gene. METHODS: We conducted a clinical and genetic study of a family in which 5 of 9 members suffered from intramedullary ependymoma. Karyotyping and CGH array analysis were performed on DNA from peripheral blood lymphocytes from affected participants. The NF2 gene sequences were then determined in DNA from 3 nonaffected and all 5 affected members of the family. RESULTS: Karyotype and CGH array findings were normal. Sequencing of NF2 revealed a heterozygous deletion, c.811-39_841del69bp, at the intron 8/exon 9 junction, in all affected members that was absent from all nonaffected members. RT-PCR analysis and sequencing revealed a novel NF2 transcript characterized by a skipping of exon 9 (75 bp). This deletion is predicted to result in a 25-amino acid deletion in the N-terminal FERM domain of neurofibromin 2. Modeling of this mutant domain suggests possible disorganization of the subdomain C. CONCLUSION: We report the first family with an NF2 mutation associated with intramedullary ependymomas without other features of NF2 syndrome. This mutation, which has not been described previously, may particularly affect the function of neurofibromin 2 in ependymocytes leading to the development of intramedullary WHO grade II ependymomas. We propose that sporadic intramedullary ependymomas should also be analyzed for this region of NF2 gene.

[About a case of rhabdomyosarcoma with an aberrant expression of epithelial markers: a cause of misdiagnosis]. / À propos d'un cas de rhabdomyosarcome avec une expression aberrante de marqueurs épithéliaux : une cause d'erreur diagnostique.

We present the case of an embryonal rhabdomyosarcoma of orbitary location with aberrant expression of epithelial markers in a 51-year-old female. The rhabdomyosarcoma is a rare tumor of soft tissues affecting mainly the child, but also exceptionally adults over 50. When it presents as a small round cells tumor, particularly in the region of head and neck, its differential diagnosis with several other poorly differentiated tumors may be difficult. Several cases of rhabdomyosarcoma with aberrant expression of epithelial markers have been reported in the literature. A large immunohistochemical panel is recommended by recent studies in order to avoid diagnostic errors. It includes large spectrum cytokeratins, desmin, neuroendocrine, melanocytic and lymphoid markers. Our observation confirms the importance of conducting this immunohistochemical panel including desmin in the context of a poorly differentiated tumor of the head and neck region. It should be performed whatever the age of the patient and even if the tumor expresses epithelial markers.

[Report of seven cases of clear-cell meningioma and a literature review]. / Etude de sept cas de méningiomes à cellules claires et revue de la littérature.

AIMS: Clear cell meningioma (CCM) is a rare variant of meningioma, which is important to distinguish because of its aggressive behaviour. Sixty-eight cases have been previously described in the literature. In this retrospective study, we report seven cases of CCM operated in our institution between 1994 and 2008. METHODS: Seven CCM cases were retrieved from the files of our pathology department. Clinical and radiological data were reviewed. A standard histological study was realized and immunohistochemistry was performed with epithelial membrane antigen (EMA), cytokeratin KL1, progesterone receptors, Ki-67 (MIB-1), S100 protein. RESULTS: Patients' age ranged from 2 to 70 years (median age: 36 years), with a female predominance (5/7 patients). Three patients belonged to the same family, probably affected by neurofibromatosis type 2. CCM occurred in various locations: medullary region (two), sphenoid wing (two), ponto-cerebellar angle (two), tentorium (one). The tumour could be fully resected in three cases. Follow-up ranged from 3 months to 15 years: recurrence occurred in four patients, three of whom eventually died from the disease. DISCUSSION: In our series, the frequency of CCM (0,6% of all meningiomas operated on in our institution) and its histological aspects are almost identical to those observed of the literature. We discuss the predictive value of proliferation index (MIB-1) and the role of patient status and quality of surgical resection in the evolution. CONCLUSION: Our study supports the fact that MCC course is less favourable than meningioma WHO grade I, even in the absence of anaplastic area, high mitotic activity, or necrosis. In this series, MIB-1 index was of no interest identifying patients with or without recurrence.

[Mullerian "inclusions" within an intramammary lymph node]. / "Inclusions" müllériennes dans un ganglion lymphatique intra-mammaire.

We report a case of mullerian "inclusions" within an intra-mammary lymph node. Discovered on a routine mammography, the inclusions appeared in the right breast as a focus of microcalcifications. The 63-year-old patient was asymptomatic. Microcalcifications were associated with benign appearing epithelial formations which were positive for estrogen receptor antibodies and negative for thyroglobulin, calretinin and smooth muscle actin antibodies. Three years later, the patient developed a peritoneal low-grade serous carcinoma. Mullerian inclusions within lymph nodes are rather frequent below the diaphragm but exceptional above. Even in a supra-diaphragmatic localization, they can be associated with a pelvic serous tumor.