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1.
Tumori ; 102(Suppl. 2)2016 Nov 11.
Article in English | MEDLINE | ID: mdl-26481862

ABSTRACT

BACKGROUND: Malignant meningiomas, rare tumors that account for approximately 1%-3% of all meningioma, have high recurrence, morbidity, and mortality rate and a particularly poor outcome. Surgical excision followed by adjuvant radiotherapy is the current approach for the treatment of these tumors. METHODS: In the case reported, the disease, characterized by a high proliferative index (Ki67 60%-70%), was treated with endoscopic surgery limited to the extracranial portion; then the patient underwent radiotherapy, on the residual tumor volume, to a total dose of 66 Gy delivered in 33 fractions (2 Gy/fraction) by helical intensity-modulated radiation therapy with image-guided radiotherapy daily checks (tomotherapy). RESULTS: Two and a half years after the treatment, the patient is alive and a partial response is maintained. The patient is healthy overall with grade I fatigue and grade II hearing loss as late toxicity (Common Terminology Criteria for Adverse Events 4.1). CONCLUSIONS: Within a multidisciplinary approach, new radiotherapy techniques confirm their effectiveness and reliability for the treatment of malignant meningioma.


Subject(s)
Meningioma/diagnosis , Meningioma/therapy , Paranasal Sinus Neoplasms/diagnosis , Paranasal Sinus Neoplasms/therapy , Skull Base Neoplasms/diagnosis , Skull Base Neoplasms/therapy , Aged , Combined Modality Therapy , Disease Progression , Humans , Magnetic Resonance Imaging , Male , Meningioma/radiotherapy , Meningioma/surgery , Neoplasm Invasiveness , Paranasal Sinus Neoplasms/radiotherapy , Paranasal Sinus Neoplasms/surgery , Skull Base Neoplasms/radiotherapy , Skull Base Neoplasms/surgery , Tomography, X-Ray Computed , Treatment Outcome , Tumor Burden
2.
J Med Case Rep ; 7: 64, 2013 Mar 08.
Article in English | MEDLINE | ID: mdl-23497715

ABSTRACT

INTRODUCTION: Medulloblastoma, the most frequent brain tumor in childhood, also occurs with a wide range of characteristics in adult patients. Late relapse is common in adult medulloblastoma, and the overall survival of relapsed patients usually ranges from 12 to 15 months. Treatment at recurrence is still debated and after reoperation includes stereotactic or normofractionated radiotherapy, and high-dose chemotherapy with autologous bone marrow transplantation. CASE PRESENTATION: We report on the case of a 31-year-old Caucasian woman who underwent re-irradiation for a recurrence of medulloblastoma at nine years after first irradiation (56Gy), focusing on the radiobiological background and a review of previous studies involving re-irradiation of recurrent medulloblastoma. After surgical excision of the relapsed tumor and medical multi-agent treatment, the site of recurrence was treated using three-dimensional conformal radiotherapy to a total dose of 52.8Gy (1.2Gy/fraction/twice daily). A total biological equivalent dose of 224.6Gy (α:ß = 2 Gy) was delivered to the posterior fossa (first and second treatments). No radionecrosis or local recurrence was evident at 18 months after re-irradiation. CONCLUSION: Re-irradiation can be considered a possible and safe treatment in selected cases of recurrent medulloblastoma in adults. The reported radiobiological considerations could be useful in other cases involving re-irradiation of brain tumors.

3.
Hum Pathol ; 42(5): 738-42, 2011 May.
Article in English | MEDLINE | ID: mdl-21239044

ABSTRACT

Extranodal marginal zone B-cell lymphomas are linked to bacterial infections that vary according to the anatomical site. The occurrence of these lymphomas in the central nervous system is a very rare event, and the identification of specific bacteria in this setting has not been previously addressed. Herein, we report for the first time a case of primary central nervous system marginal zone B-cell lymphoma involving the choroid plexus associated with Chlamydophila psittaci infection. No concomitant ocular involvement was detected. C psittaci was identified with 3 independent methods, and through immunohistochemistry, it was visualized in the cytoplasm of monocytes/macrophages present within lymphomatous tissues. This observation points toward the opportunity to investigate the prevalence of C psittaci infection in central nervous system lymphomas, particularly in those with low-grade histologic features.


Subject(s)
Brain Neoplasms/microbiology , Chlamydophila Infections/complications , Chlamydophila psittaci , Choroid Plexus/microbiology , Lymphoma, B-Cell, Marginal Zone/microbiology , Adult , Brain Neoplasms/diagnosis , Chlamydophila Infections/diagnosis , Chlamydophila psittaci/isolation & purification , Choroid Plexus/pathology , Female , Humans , Immunohistochemistry , Lymphoma, B-Cell, Marginal Zone/diagnosis , Magnetic Resonance Imaging , Staining and Labeling
4.
Hum Mutat ; 30(8): E771-81, 2009 Aug.
Article in English | MEDLINE | ID: mdl-19437508

ABSTRACT

Alpha1-antitrypsin (alpha(1)AT) deficiency is a hereditary disorder associated with reduced alpha(1)AT serum level, predisposing adults to pulmonary emphysema. Among the known mutations of the alpha(1)AT gene (SERPINA1) causing alpha(1)AT deficiency, a few alleles, particularly the Z allele, may also predispose adults to liver disease. We have characterized a new defective alpha(1)AT allele (c.745G>C) coding for a mutant alpha(1)AT (Gly225Arg), named P(brescia). The P(brescia) alpha(1)AT allele was first identified in combination with the rare defective M(würzburg) allele in an 11-year-old boy showing significantly reduced serum alpha(1)AT level. Subsequently, the P(brescia) allele was found in the heterozygous state with the normal M or the defective Z allele in nine and three adults respectively. In cellular models of the disease, we show that the P(brescia) mutant is retained in the endoplasmic reticulum as ordered polymers and is secreted more slowly than the normal M alpha(1)AT. This behaviour recapitulates the abnormal cellular handling and fate of the Z alpha(1)AT and suggests that the mutation present in the P(brescia) alpha(1)AT causes a conformational change of the protein which, by favouring polymer formation, is etiologic to both severe alpha(1)AT deficiency in the plasma and toxic protein-overload in the liver.


Subject(s)
Alleles , alpha 1-Antitrypsin/genetics , Base Sequence , Cell Line , DNA Primers , Humans , Immunohistochemistry
5.
Int J Surg Pathol ; 16(2): 218-21, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18417685

ABSTRACT

A 65-year-old man with a colonic adenocarcinoma and a single small liver nodule underwent surgery. The nodule showed the histological features of a bile duct adenoma. Large eosinophilic, periodic acid-Schiff-positive diastase-resistant intracytoplasmic globules conferred a signet-ring appearance to the cells. Similar globules were found in the biliary epithelium in perinodular portal tracts, whereas smaller globules were detected in periportal hepatocytes. All globules showed strong immunoreactivity for alpha-1-antitrypsin, and the sequence of the alpha-1-antitrypsin gene showed a heterozygous M(malton) genotype. The selective recurrence of large alpha-1-antitrypsin globules within the bile ducts may indicate a neoplastic rather than a reactive or hamartomatous nature of the nodule.


Subject(s)
Adenoma/genetics , Bile Duct Neoplasms/genetics , Bile Ducts, Intrahepatic , Mutation , alpha 1-Antitrypsin/genetics , Adenoma/chemistry , Adenoma/pathology , Aged , Bile Duct Neoplasms/chemistry , Bile Duct Neoplasms/pathology , Biomarkers, Tumor/analysis , DNA Mutational Analysis , Humans , Immunohistochemistry , Male , alpha 1-Antitrypsin/chemistry
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