1/14. Primary granulocytic sarcoma presenting with bone pain and hypergammaglobulinemia.Granulocytic sarcoma (GS), is an extramedullary tumorous aggregate of neoplastic myeloid precursor cells, most often associated with acute myeloid leukemia (AML). Primary GS occurs in patients with normal bone marrow and no history of hematological disorders. It is a rare disease, which can involve any organ and mimic other tumors. A correct initial diagnosis, which can be difficult, and early treatment with chemotherapy as for AML patients results in a higher rate of complete remission. We report a case of multifocal primary GS of the bone associated with oligoclonal hypergammaglobulinemia, successfully treated with AML-like induction chemotherapy followed by postinduction therapy with autologous peripheral stem cells transplantation. The possible significance of the associated hypergammaglobulinemia is discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/14. Malignant struma ovarii: an unusual presentation.Malignant struma ovarii is a rare disease; only a few cases are well documented in the literature. Thus, the overall prognosis and modalities of treatment are still somewhat controversial. In this article, the authors report a case of malignant struma ovarii discovered 4 years after ovariectomy after metastasis to the lungs and bones. review of the pathology of the ovarian struma did not reveal the classic criteria of malignancy, there were, however, many features considered to be atypical and thus suspicious. The patient was treated by total thyroidectomy followed by repetitive doses of 131I. However, because of difficulties in increasing the level of endogenous thyrotropin (TSH) because of functional thyroid metastases in such an advanced disease, recombinant human thyrotropin (rhTSH; Thyrogen, thyrotropin alpha, Genzyme Corporation, Cambridge, MA) was used before administration of radioiodine. With this therapeutic protocol, the patient is still clinically stable 2 years after diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/14. Cavernous hemangioma of the rib.A 59-year-old man with an enlarged left chest wall mass that had been followed up for 3 years underwent surgical resection. The mass was pathologically diagnosed as cavernous hemangioma of the rib. This is the fourth case of this rare disease to be reported. However, it suggests that hemangioma of the rib should be considered in the differential diagnosis of rib tumors, especially in asymptomatic patients.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/14. Successful treatment of extracranially metastasized pineal gland germinoma with high-dose methotrexate.germinoma of the pineal gland is a rare disease usually confined to the brain which responds well to radiotherapy. Spinal seeding occurs in approximately 4% of cases and distant metastases are extremely rare. We report on a 27-year-old female with an intracranially metastasized pineal gland germinoma, meningeal carcinomatosis and distant bone metastases. Treatment was initiated with intrathecal methotrexate (MTX) and continued with high-dose intravenous MTX. The therapy was very well tolerated apart from reversible hepatic toxicity requiring a dose reduction. The patient was in complete remission after three courses followed by two consolidation cycles; the patient has now been in continuous complete remission for more than 22 months. This is the first report to show that MTX is a potent drug in treating pineal gland germinoma. Long-term side effects of radiotherapy such as reduced mental function or hypopituitarism can probably be avoided. Single-agent high-dose MTX may provide high efficacy with limited adverse effects, especially at a more advanced tumor stage with spinal seeding and extracranial disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/14. Extraskeletal mesenchymal chondrosarcoma: case report.This is a case report of an extraskeletal mesenchymal chondrosarcoma (ESMC) that originally occurred in the retroperitoneum of a 24-year-old female and later metastasized to the left proximal humerus. Mesenchymal chondrosarcomas are very rare in comparison to conventional chondrosarcomas and even more so when arising from an extraskeletal location. In this report, we discuss the major characteristics of ESMC and offer a review of the current knowledge regarding this rare disease entity.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/14. Cavernous hemangioma of the skull presenting with subdural hematoma. Case report.Cavernous hemangioma of the calvaria is a very rare disease, and patients usually present with headaches or a visible skull deformity. Few reports of patients presenting with intradiploic or epidural hemorrhages are found in the literature. No case of an intradural hemorrhage from a cavernous hemangioma of the skull has been reported to date. The authors present the case of a 50-year-old man in whom a symptomatic subdural hematoma (SDH) resulting from a cavernous hemangioma of the calvaria had hemorrhaged and eroded through the inner table of the skull and dura mater. The patient underwent surgery for evacuation of the SDH and resection of the calvarial lesion. Postoperatively, the patient experienced immediate relief of his symptoms and had no clinical or radiological recurrence. Calvarial cavernous hemangiomas should be considered in the differential diagnosis of nontraumatic SDHs. Additionally, skull lesions that present with intracranial hemorrhages must be identified and resected at the time of hematoma evacuation to prevent recurrences.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/14. Solitary bone plasmocytoma of the spine in an adolescent.Solitary plasmocytoma (SP) represent only about 5% of plasma cell neoplasia. Most patients have generalized disease, that is, multiple myeloma (MM). Solitary bone plasmocytoma (SBP) is a localized plasma cell tumor and is a very rare disease in young patients. We reported here, a case of SPB in a 14-year-old girl with a 10-year disease-free survival after an aggressive treatment. The relationship of SBP to MM continues to be controversial. Recommendations on the diagnosis and management of SBP in adults, based on a literature search and consensus of expert opinion, were recently published on behalf of the Guidelines Working Group of the United Kingdom Myeloma Forum 1. MRI of the spine is necessary to assess local disease. radiotherapy with doses of 45-50 Gy is the recommended treatment and gives a high rate of local control (83-96%). Chemotherapy remains controversial in contrast to MM, in which intensive chemotherapy with autologous bone marrow transplantation (ABMT) is widely accepted. At the present time, considering the good prognosis of patients with a normal MRI at diagnosis and a complete disappearance of the M protein after radiotherapy, we believe that ABMT should be reserved for relapse or primary therapeutic failure.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/14. Dramatical improvement of chemoresistant bone lymphoma with rituximab.Non-Hodgkin's lymphoma of the bone is a very rare disease that accounts for approximately 5% of all extranodal non-Hodgkin's lymphomas and for 7-10% of primary bone tumours. We report the case of a 28-year-old man who, in June 2001, presented with a right humerus showing painful destructive lesions with pathological fractures. biopsy revealed diffuse, large B-cell non-Hodgkin's lymphoma expressing CD20. The patient received six cycles of conventional chemotherapeutic regimen, including cyclophosphamide, doxorubicin, vincristine and prednisone, and VP-16 (etoposide), ifosfamide and mitoxantrone. His arm pain worsened, and x-rays demonstrated progressive disease. He began a trial of rituximab, 750 mg/week, for 4 weeks. There was improvement in pain after the first infusion. Radiographic studies conducted 3 months after rituximab therapy showed marked improvement in his humerus disease. MRI showed a decrease of tumour volume with residual minor signal abnormalities of the bone marrow. He had no evidence of recurrent lymphoma 24 months later.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/14. mesenchymoma of the chest wall in children.Benign chest wall mesenchymoma in children is an extremely rare disease. Only 20 patients have been reported in the world literature. We report a chest wall mesenchymoma in a 2-year-old boy who was admitted to the hospital after a routine chest roentgenogram showed a mass in the right upper chest wall. The patient was asymptomatic. Clinical examination was negative, but chest roentgenograms and computed tomography showed a mass in the right upper chest wall involving the third rib. A 2 x 2 x 1.5-cm tumor was excised totally with partial resection of the third rib. The histology of the lesion corresponded to a mesenchymoma (hamartoma) of the chest wall. Our patient has been followed up for 8 years without recurrence.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/14. Invasive squamous cell carcinoma of the carpus: malignant transformation of epidermis dysplasia verruciformis.epidermodysplasia verruciformis is a rare disease that is characterized by the eruption of wartlike skin lesions. There is a high incidence of malignant transformation of these lesions, especially in areas exposed to the sun, such as the face or the dorsum of the hands. We present a case that demonstrates many aspects of this disease entity, which ultimately required amputation of the hand because of invasive squamous cell carcinoma of the carpal bones.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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