Paraneoplastic disorders associated with miscellaneous neoplasms with focus on selected soft tissue and Undifferentiated/ rhabdoid malignancies.

A variety of soft tissue and visceral neoplasms have been associated with constitutional symptoms and signs including fever, fatigue, arthritis and laboratory abnormalities such as elevated erythrocyte sedimentation rate, leukocytosis with marked neutrophilia, anemia, thrombocytosis and others. This review addresses three main neoplastic categories that are associated with specific paraneoplastic phenomena: (1) neoplasms having in common the presence of diffuse mixed inflammatory infiltration (closely simulating an inflammatory pseudotumor) and frequently associated with constitutional symptoms; (2) neoplasms with undifferentiated, anaplastic or rhabdoid cell morphology (frequently SWI/SNF-deficient) associated with diverse paraneoplastic manifestations; and (3) paraneoplasia associated with neoplasms carrying specific gene fusions such as solitary fibrous tumor (STAT6-NAB2 gene fusions), infantile fibrosarcoma and congenital mesoblastic nephroma (ETV6-NTRK3 gene fusions), and angiomatoid fibrous histiocytoma (EWSR1-CREB1 & EWSR1-ATF1 fusions).

Primary extraskeletal myxoid chondrosarcoma in cerebellum: A case report with literature review.

RATIONALE: Extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant neoplasm of which intracranial EMC is the rarest. PATIENT CONCERNS: We present an unusual case report of a 41-year-old woman who was sent to the emergency department for a sudden headache and other symptoms related to increased intracranial pressure. INTERVENTIONS: Emergent CT revealed an occupying lesion in the left cerebellum with surrounding edema. A complete surgical excision of the lesion through a transcortical approach was performed. After the operation, this patient received adjuvant radiotherapy and temozolomide treatment. DIAGNOSES: Pathology diagnosis was an intracranial EMC. OUTCOMES: The patient survives with no tumor recurrence as of the last follow-up. Progression-free survival exceeded 20 months. LESSONS: We have reviewed the literature and here summarize the diagnosis and treatment options for intracranial EMC. Diagnosis and treatment options of this rare disease are discussed.

Phosphaturic mesenchymal tumors. Survey of 8 cases from a single Mexican medical institution.

Phosphaturic mesenchymal tumor (PMT) is a morphologically heterogeneous soft tissue and bone neoplasm, producing a paraneoplastic syndrome due to phosphate wasting. These tumors produce fibroblast growth factor 23, which is implicated in renal tubule phosphate loss. Medical records of patients seen from 1999 to 2013 with osteomalacia associated or not with a tumor were reviewed. Clinical and laboratory data, radiographic studies, and follow-up of 8 patients were tabulated. Histologic features and the immunoprofile of the tumors were analyzed. There were 208 patients with osteomalacia, but only 8 (3.84%) had osteomalacia associated with a tumor. The median age of the patients was 40 years. The tumor size ranged from 1.5 to 4 cm. Five were located in soft tissues and skin; and 3, in bones. Osteomalacia symptoms lasted from 2 to 14 years with a median of 6 years. Laboratory data showed hypophosphatemia and phosphaturia in all patients. All tumors were histologically benign. Histologically, the salient features were a hemangiopericytoid pattern, chronic hemorrhage, and microcystic areas. All neoplasms were diffusely positive for vimentin and focally positive for epithelial membrane antigen, CD34, and S-100 protein. Ki-67 was positive in approximately 10% of neoplastic cells in 2 cases and less than 1% in the remainder. We report 8 cases of PMTs producing osteomalacia, from a single third-level Mexican medical institution. These tumors occurred in soft tissues, skin, and bones. All tumors were benign, small, not easily detected by physical examination and diagnosed due to the metabolic abnormalities.

Extraskeletal myxoid chondrosarcoma in the lung: asymptomatic lung mass with severe anemia.

Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft-tissue sarcoma, which primarily occurs deep in the extremities, especially in skeletal muscle, or tendon. EMC of the pleura has been described, however, no case of primary EMC arising from lung has been previously reported. We describe herein, a 51-year-old Asian female initially manifested with signs of severe anemia who presented with a lung mass unrelated to pleura that was morphologically typical EMC, with strong immunoreactivity for vimentin and NSE. Two weeks after resection, the anemia was cured. The patient continued with follow-up, without sign of abnormality 32 months after operation. Virtual slides: The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2882199847396682.

Selective venous catheterization for the localization of phosphaturic mesenchymal tumors.

Tumor-induced osteomalacia (TIO) is characterized by renal phosphate wasting, hypophosphatemia, and aberrant vitamin D(3) metabolism and is caused by fibroblast growth factor 23 (FGF-23)-producing mesenchymal tumors, which are often difficult to locate. We investigated the utility of selective venous sampling in tumor localization. The primary endpoint was identification of the FGF-23 concentration ratio between the venous drainage of the tumor bed and the general circulation that was diagnostic of the location of an FGF-23-secreting tumor. Fourteen subjects underwent 15 sampling procedures after functional and anatomic imaging studies. Subjects fit into three imaging categories: no suspicious site, multiple sites, and single site (positive controls). FGF-23 levels were measured by ELISA. Suspicious tumors were resected for diagnosis, confirmation, and cure. In subjects with a positive venous sampling study and subsequent cure, a minimum ratio of 1.6 was diagnostic. In 7 of 14 subjects there was suggestive imaging, a diagnostic ratio, and an associated TIO tumor (true positive). Four of these required complicated resection procedures. In 4 of 14 subjects with no suspicious site on imaging studies, an FGF-23 diagnostic ratio was not detected (true negative). Biopsy or resection of a single lesion in 2 of 14 subjects with a diagnostic ratio failed to identify a TIO tumor (false positive). A diagnostic FGF-23 ratio was absent in 1 of 14 subjects whose tumor was a single highly suspicious lesion on imaging studies (false negative). These data yield a sensitivity of 0.87 [95% confidence interval (CI) 0.47-0.99] and a specificity of 0.71 (95% CI 0.29-0.96). Selective venous sampling for FGF-23 was particularly useful in subjects with multiple suspicious sites or an anatomically challenging planned resection but not in the absence of a suspicious lesion on imaging studies.

[Recurrent carpal tunnel syndrome]. / Récidives de syndrome du tunnel carpien.

Recurrence of carpal tunnel syndrome following surgery is not rare. The reported frequency of reoperation varies from 0.3 to 12%. We distinguish between persistent carpal tunnel syndrome, and recurrent carpal tunnel syndrome which we define as reappearance of the condition three months or more following surgery. More proximal nerve lesions or other erroneous diagnoses may cause either persistent or recurrent syndromes. In the cases of persistent syndromes, incomplete division of the flexor retinaculum is a frequent cause, but iatrogenic nerve lesions or active flexor tenosynovitis may also be to blame. In the cases of recurrent carpal tunnel syndrome, the problem is often due to perineural fibrosis. At the time of reoperation, except in those cases where an incomplete division of the flexor retinaculum is found, one must consider whether or not to combine the neurolysis with an additional procedure to prevent or diminish recurrent fibrosis. To achieve this goal, a number of measures have been proposed, including interposition of a biomaterial or raising a local flap to surround and protect the nerve. Others recommend early mobilization to diminish fibrous adhesions between the nerve and surrounding tissues. The results are at best modest, and may be counterproductive after several interventions. It is necessary to distinguish between improvement in symptoms that are due to local irritation, the priority for the patient, and improvement in neurologic function of the motor and sensory components of the nerve. According to the literature, from 43 to 90% of patients who undergo repeat operations continue to have symptoms, and one in five get no relief, while 80% of first operations for carpal tunnel syndrome give excellent results. These findings indicate that the first intervention must be performed with the most rigorous attention to technical detail.

Para-articular osteochondroma of the knee.

We report a case of para-articular chondroma located in the infrapatellar fat pad of the knee of a 42-year-old woman with a history of anterior knee pain and restricted range of motion. On clinical examination, a solid palpable mass in the infrapatellar region was detected. Radiography and computed tomography of the knee revealed the presence of 3 different "popcorn"-like gross calcifications within Hoffa's fat pad. Magnetic resonance imaging showed areas of signal intensity in Hoffa's fat pad that were consistent with calcific nodules surrounded by chondral tissue. During arthroscopy, a dense extrasynovial mass was discerned within Hoffa's fat pad. The mass was entirely removed through an open approach medial to the patellar tendon. Resection specimens consisted of 3 well-circumscribed nodules of 5 x 2.5 x 1.5, 2 x 2 x 1, and 1.5 x 2 x 1 cm, respectively. Grossly, these nodules were surrounded by adipose tissue and presented a thin fibrous membrane. Histologic examination showed that the nodules were composed of cartilaginous tissue surrounded by fibrous connective and adipose tissue with multifocal endochondral ossification. The precise pathogenetic mechanism of these tumors remains unknown, but cartilaginous metaplasia of articular and para-articular connective tissue seems to be the primary cause. Patients with these lesions are currently treated with the use of marginal resection or excision.

Epithelioid hemangioendothelioma presenting with severe myelofibrosis and a high serum hyaluronan level.

Epithelioid hemangioendothelioma (EHE) is a rare tumor originating from the vascular endothelium; it has an intermediate malignant potential. EHEs affect all age groups and mostly originate from the soft tissues of the extremities, lungs, and liver. Spinal EHEs, especially those occurring in the bone marrow region, are extremely rare. We report a case of EHE with massive involvement of the liver, vertebrae, and cranial bones that caused severe myelofibrosis (MF) in a 67-yr-old-male patient. Hyaluronan deposits were diffusely observed in the tumor tissue biopsies obtained from both the liver and bone marrow. Furthermore, the serum hyaluronan level increased markedly along with rapid progression of the disease. To the best of our knowledge, this is the first report of MF occurring in an EHE; hyaluronan may have played an important role in the pathogenesis of fibrosis in this case.

Oncogenic osteomalacia associated with an occult phosphaturic mesenchymal tumour: clinico-radiologico-pathological correlation and ultrastructural studies.

A middle-aged man presented with bone pain at multiple sites due to tumour-induced osteomalacia. The underlying occult phosphaturic mesenchymal tumour was identified by octreotide scan 5 years after presentation and confirmed by computed tomography. Tumour resection resulted in normalisation of blood chemistry and bone densitometry. Clinico-radiologico-pathological correlation and ultrastructural studies of the tumour threw light on the pathogenesis and pathophysiology of this rare disease.

The clinical and surgical aspects of spinal tumors in children.

A series of 20 pediatric patients underwent surgery for spinal tumor at the Department of Neurosurgery, Gulhane Military Medical Academy between 1995 and 2003. Motor weakness and reflex changes were the main initial signs in these patients. Epidural tumors and intradural-extramedullary tumors were in equal number, and total tumor removal was achieved in most of the patients without adjuvant treatment. Laminotomy was the main surgical method in 60% of the patients with spinal tumor, especially in children younger than 3 years of age.

Orthopaedic oncology for the nononcologist orthopaedist: introduction and common errors to avoid.

A number of the more frequently encountered diagnostic and management errors and pitfalls have been discussed. However, if a physician will recognize his or her own limits and will always consider the diagnostic possibility of a neoplastic process, then appropriate steps can usually be taken, improving the patient's health care. The following chapters will outline the appropriate steps in the evaluation and work-up of patients with suspected tumors, as well as the currently recommended approach for biopsy, treatment, and follow-up.

Síndrome da polipose adenomatosa do cólon: familial e Gardner: apresentaçäo de dois casos e revisäo da literatura / Adenomatous polyposis colonic syndrome: familial and Gardner: apresentation of two cases and literature review

Os autores descrevem dois casos de polipose adenomatosa colônica, sendo uma Familial e a outra Gardner. Discutem as características das síndromes e enfatizam o tratamento eminentemente cirúrgico. Debatem o tipo de cirurgia a ser realizada e concluem que a colectomia total com íleo-reto anastomose é o procedimento de escolha nos pacientes que näo apresentam ou säo portadores de pequenos números de pólipos retais. Este procedimento tem menores índices de complicaçöes e distúrbios psicológicos quando comparados a proctocolectomia total com ileostomia definitiva ou anastomose íleo-anal