miR-146a rs2431697 identifies myeloproliferative neoplasm patients with higher secondary myelofibrosis progression risk.

Myelofibrosis (MF) occurs as part of the natural history of polycythemia vera (PV) and essential thrombocythemia (ET), and remarkably shortens survival. Although JAK2V617F and CALR allele burden are the main transformation risk factors, inflammation plays a critical role by driving clonal expansion toward end-stage disease. NF-κB is a key mediator of inflammation-induced carcinogenesis. Here, we explored the involvement of miR-146a, a brake in NF-κB signaling, in MPN susceptibility and progression. rs2910164 and rs2431697, that affect miR-146a expression, were analyzed in 967 MPN (320 PV/333 ET/314 MF) patients and 600 controls. We found that rs2431697 TT genotype was associated with MF, particularly with post-PV/ET MF (HR = 1.5; p < 0.05). Among 232 PV/ET patients (follow-up time=8.5 years), 18 (7.8%) progressed to MF, being MF-free-survival shorter for rs2431697 TT than CC + CT patients (p = 0.01). Multivariate analysis identified TT genotype as independent predictor of MF progression. In addition, TT (vs. CC + CT) patients showed increased plasma inflammatory cytokines. Finally, miR-146a-/- mice showed significantly higher Stat3 activity with aging, parallel to the development of the MF-like phenotype. In conclusion, we demonstrated that rs2431697 TT genotype is an early predictor of MF progression independent of the JAK2V617F allele burden. Low levels of miR-146a contribute to the MF phenotype by increasing Stat3 signaling.

Primary lymphocytic lymphoma of lacrimal gland. / Linfoma linfocítico primario de glándula lagrimal.

CASE REPORT: We report a case of primary small-cell lymphocytic lacrimal gland lymphoma in a male diagnosed with primary antiphospholipid syndrome. These rare lymphomas are usually presented in the clinic as disseminations secondary to chronic lymphocytic leukaemia, and the primary site is rare in the orbit. DISCUSSION: Non-Hodgkin lymphomas are a heterogeneous group of tumours. Although treatment in the IE stage is usually radiotherapy, due to its association with antiphospholipid syndrome, systemic treatment with rituximab was administered.

A multimodality approach to the diagnosis of breast hamartomas with atypical mammographic appearance.

The ultrasonographic appearance of breast hamartomas (BHs) is described and its diagnostic utility is discussed in this study of 27 women with mammographic findings both typical and atypical of BH. The role of computed tomography (CT) in the diagnosis of BH of atypical mammographic appearance is also analyzed. These 27 cases of BH were detected in women submitted to mammographic screening. Ages ranged from 45 to 65 years (mean age 52.6 years). In all cases physical and ultrasonographic examinations were carried out. CT studies were carried out in seven cases. Core biopsy was performed in 18 cases of lesions with a mammographic appearance atypical of BH. Lesions were palpable in 9 cases and nonpalpable in 18. Mammographic appearance was characteristic in nine cases. In 19 cases a hypoechoic solid mass with hyperechoic lines and/or bands was seen. This ultrasonographic image is suspicious of BH. Finally, both CT and core biopsy findings were of great help in the diagnosis of BH in the cases where mammographic and ultrasonographic studies were inconclusive. We consider that a combination of mammography, ultrasonography, CT, and core biopsy is fundamental for the successful diagnosis of breast hamartomas not seen in typical form in mammograms.

Primary ovarian pregnancy with intrauterine device in situ.

A case of primary ovarian pregnancy associated with an intrauterine device in a multipara taking thyroglobulin is reported. The clinical signs and symptoms were identical to those of any ectopic pregnancy with tubal rupture and hemoperitoneum. The final diagnosis was based on the histopathological findings. The literature is reviewed and the association between IUD and ovarian pregnancy is discussed.

Astrocytoma of the cerebral aqueduct.

The authors report the case of a 9-year-old girl with a low-grade astrocytoma of the mesencephalon that occluded the sylvian aqueduct. Symptoms, signs, and neuroradiological investigations led to the clinical impression of aqueductal stenosis. The presence of a tumor was diagnosed by cerebrospinal fluid cytology and confirmed at postmortem examination. This is the first reported instance of this tumor being diagnosed by cerebrospinal fluid cytology and the third report of a diagnosis in a living patient. The authors stress the value of CSF cytology in evaluating a typical case of hydrocephalus.