Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms.

Since the discovery of the JAK2V617F tyrosine kinase-activating mutation several genes have been found mutated in nonchronic myeloid leukemia (CML) myeloproliferative neoplasms (MPNs), which mainly comprise three subtypes of "classic" MPNs; polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF). We searched for mutations in ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 genes in 149 non-CML MPNs, including 127 "classic" MPNs cases. JAK2 was mutated in 100% PV, 66% ET and 68% MF. We found a high incidence of ASXL1 mutation in MF patients (20%) and a low incidence in PV (7%) and ET (4%) patients. Mutations in the other genes were rare (CBL, DNMT3A, IDH2, MPL, SF3B1, SUZ12, NF1) or absent (IDH1).

Fast Track Management of Primary Thyroid Lymphoma in the Very Elderly Patient.

A rapid growing cervical mass mobile while swallowing is the most common clinical presentation of severe thyroid malignancy. A 91-year-old female patient with a history of Hashimoto thyroiditis presented with clinical compressive neck symptoms. The patient had gastric Maltoma diagnosed that was surgically resected thirty years ago. A straightforward process was needed to reach full histological diagnosis and initiate prompt therapy. Ultrasound (US) showed a 67 mm hypoechoic left thyroid mass with reticulated pattern without signs of locoregional invasion. Percutaneous trans isthmic US-guided 18G core needle biopsy (CNB) disclosed diffuse large B cell lymphoma of the thyroid gland. FDG PET revealed two distinct thyroid and gastric foci (both SUVmax 39.1). Therapy was initiated rapidly to decrease clinical symptoms in this aggressive stage III primitive malignant thyroid lymphoma. The prognostic nomogram was calculated by using a seven-item scale, which disclosed a one-year overall survival rate of 52%. The patient underwent three R-CVP chemotherapy courses, then refused further treatment and died within five months. Real-time US-guided CNB approach led to rapid patient's management that was tailored to patient's characteristics. Transformation of Maltoma into diffuse large B cell lymphoma (DLBCL) into two body areas is deemed to be extremely rare.

Meningeal chondroblastic osteosarcoma: case report and review of the literature.

Primary meningeal osteosarcomas are exceedingly rare. We report a case of a 51-year-old man with a chondroblastic osteosarcoma treated with pre-operative embolization, surgical removal, followed by adjuvant chemotherapy and radiation therapy. Patient is alive without any recurrence 43 months after diagnosis.

[Testicular carcinoma and sarcoid-like necrotizing granulomatosis]. / Cancer testiculaire et granulomatose nécrosante sarcoid-like.

A 35-year-old man with a stage I non-seminomatous germ-cell tumor of the right testis was treated with a simple orchidectomy. Sixty-seven months later, the patient who was on clinical follow-up, has presented five bilateral lung nodules on computed-tomography scan. Additional staging showed no other abnormalities. Lung biopsy of two nodules was performed during a videothoracoscopy and the histologic examination revealed a sarcoidosis-like necrotizing granulomatosis. The coexistence of non-caseating granulomas and testis carcinoma showed an increase during the last two decades. The immunopathogenesis of sarcoid formation in malignant tumours is still unknown. During follow-up of patients with testicular carcinomas, the presence of lung nodules requires a histologic examination and sarcoidosis should be considered as differential diagnosis.

The clinical spectrum of IgM-related amyloidosis: a French nationwide retrospective study of 72 patients.

Immunoglobulin M (IgM)-related amyloidosis remains a rare and little-known complication of monoclonal IgM-associated disorders. We sought to determine the clinical and laboratory presentation, response to treatment, and outcome of patients with IgM-related amyloidosis in the era of new therapeutic approaches. We conducted a retrospective study in 29 French centers to identify patients with monoclonal IgM and biopsy-proven amyloidosis; we reviewed patients' records and collected relevant clinical and laboratory data. We identified 72 patients with IgM-related amyloidosis. Systemic primary amyloidosis (AL) was present in 64, peritumoral AL in 5, and systemic secondary amyloidosis (AA) in 3 patients. A peculiar pattern of relatively frequent lymph node (31%) and lung (17%) involvement was noted in patients with systemic AL amyloidosis. Response to alkylating agents was poor, with a hematologic response in 37%, a complete remission in 0%, and an organ response in 21%. Response to hematopoietic stem cell transplantation showed a hematologic response in 100% with complete remission in 75% and an organ response in 75%. Purine analogs and rituximab induced a hematologic response in 73% and 60%, respectively, with complete remission in 9% and 0% and an organ response in 55% and 0%, respectively. In multivariate analysis, prognostic factors for survival were serum albumin level < or =3.5 g/dL (p = 0.018) and heart involvement (p = 0.0034). Further prospective studies are needed in patients with IgM-related amyloidosis, with special emphasis on treatment options: hematopoietic stem cell transplantation and purine analogs could represent the most effective therapies. The identification of adverse prognostic factors of survival could be useful for those managing and making treatment decisions for these patients.

Radiation induced gastroparesis-case report and literature review.

Radiation induced gastroparesis as well as the other autonomic nervous system radiation induced neuropathies are poorly described in the literature. A case of gastroparesis associated with phrenic and recurrent laryngeal nerves paralysis was observed in a 69-year old patient. She was already treated two times by rachis radiotherapy in a context of breast cancer with bone metastases. Anatomical and chronological correlation of lesions, concomitant nerve damage in the radiation fields and elimination of the main differential diagnoses allowed us to link this case of gastroparesis with the background of radiotherapy. It confirms the role of vagus nerve lesion in radiation induced gastroparesis. This specific diagnosis led to a successful treatment and a quality of life improvement.

Amyloid arthropathy and Waldenström macroglobulinemia.

Amyloid arthropathy occurs chiefly as a manifestation of beta(2) microglobulin amyloidosis in patients receiving chronic hemodialysis. AL amyloidosis complicating multiple myeloma is a less common cause. Amyloid arthropathy is exceedingly rare in patients with Waldenström macroglobulinemia. We report a case characterized by lymphoplasmocytoid malignancy with monoclonal IgM production and amyloid arthropathy manifesting as bilateral symmetric polyarthritis. A synovial membrane biopsy established the diagnosis. Chemotherapy was effective in alleviating the joint manifestations. Joint symptoms in patients with monoclonal gammopathies, including those characterized by IgM secretion, should suggest amyloid arthropathy. Treatment of the blood disease may improve the joint symptoms.

Agreement for depression diagnosis between DSM-IV-TR criteria, three validated scales, oncologist assessment, and psychiatric clinical interview in elderly patients with advanced ovarian cancer.

BACKGROUND: Depression, a major outcome in cancer patients, is often evaluated by physicians relying on their clinical impressions rather than patient self-report. Our aim was to assess agreement between patient self-reported depression, oncologist assessment (OA), and psychiatric clinical interview (PCI) in elderly patients with advanced ovarian cancer (AOC). METHODS: This analysis was a secondary endpoint of the Elderly Women AOC Trial 3 (EWOT3), designed to assess the impact of geriatric covariates, notably depression, on survival in patients older than 70 years of age. Depression was assessed using the Geriatric Depression Scale-30 (GDS), the Hospital Anxiety Depression Scale, the distress thermometer, the mood thermometer, and OA. The interview guide for PCI was constructed from three validated scales: the GDS, the Hamilton Depression Rating Scale, and the Montgomery Asberg Depression Rating Scale (MADRS). The Diagnostic and Statistical Manual of Mental Disorders, fourth edition, revised (DSM) criteria for depression were used as a gold standard. RESULTS: Out of 109 patients enrolled at 21 centers, 99 (91%) completed all the assessments. Patient characteristics were: mean age 78, performance status ≥2: 47 (47%). Thirty six patients (36%) were identified as depressed by the PCI versus 15 (15%) identified by DSM. We found moderate agreement for depression identification between DSM and GDS (κ=0.508) and PCI (κ=0.431) and high agreement with MADRS (κ=0.663). We found low or no agreement between DSM with the other assessment strategies, including OA (κ=-0.043). Identification according to OA (yes/no) resulted in a false-negative rate of 87%. As a screening tool, GDS had the best sensitivity and specificity (94% and 80%, respectively). CONCLUSION: The use of validated tools, such as GDS, and collaboration between psychologists and oncologists are warranted to better identify emotional disorders in elderly women with AOC.

RS3PE revealing recurrent non-Hodgkin's lymphoma.

A patient meeting published criteria for remitting seronegative symmetrical synovitis with pitting edema (RS3PE) was found to have a synchronous recurrence of non-Hodgkin's malignant lymphoma. Reported cases of RS3PE associated with hematological malignancies and other forms of cancer are reviewed.

[Hairy-cell leukemia: 30 cases and a review of the literature]. / La leucémie à tricholeucocytes. Mise au point à partir de l'étude de 30 observations.

From 1978 to 2002, 30 patients presenting hairy-cell leukemia were seen in two different hospitals. We reviewed clinical, biological and therapeutic data. At diagnosis, the median age was 67.8 years; 47% were clinically asymptomatic, 12 patients had anaemia, 15 thrombocytopenia (platelets<100,000/mm3). A treatment was required for 29 patients. At the end of the study, 27 patients are alive and none died because of the disease. This study confirms the good prognosis of hairy-cell leukemia, especially since the advent of new therapeutics such as purine analogs. Based on the results in this series, we examined the different aspects of the disease referring to diagnosis, treatment and prognosis.