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Objectives Multinodular goiter (MNG) and well-differentiated thyroid carcinoma (WDTC) are emerging phenotypes of DICER1 syndrome. Methods Histologic and molecular findings of botryoid-type embryonal rhabdomyosarcoma (bERMS) and thyroid nodules from a 12-year-old DICER1 mutation carrier (p.Arg1060Ilefs*7) were investigated, providing interesting clues for understanding thyroid carcinogenesis. Results The patient had bERMS at age 7 years. The thyroid was enlarged and multinodular (61 g). Histologically, some nodules were classified as adenomatous and others as tumors with "intermediate" nuclei. One displayed vascular invasion and was classified as WDTC not otherwise specified (NOS). Somatic DICER1 mutations were identified in bERMS, two tumors with "intermediate" nuclei and WDTC. No somatic DICER1 mutations were found in adenomatous nodules. No molecular alterations were detected in BRAF600, NRAS61, HRAS12/61, KRAS12/61, TERT promoter, RET/PTC1, RET/PTC3, and PAX8/PPARγ. Conclusions The findings obtained from this single case support the assumption that DICER1 syndrome-related WDTC NOS may develop on a background of MNG, via a stepwise process, involving DICER1 somatic mutations and additional molecular events, distinct from the classic pathways of papillary/follicular carcinoma.

Infantile Hemangiomas (IH) make up the most common type of benign vascular tumors affecting children. They can grow for several months until beginning to involute. In present-day clinical practice there's no objective monitoring protocol. For more objective measures, an automatic evaluation system (CAD system) is needed to aid clinicians in assessing the effectiveness of a given patient's response to a treatment. One of the stages of these systems is the lesion segmentation. This work addresses the automatic segmentation of lesions in IH. Acknowledging that the methods in the literature for IH lesion segmentation lag behind the state-of-the-art in the image segmentation community, we conduct a comparison of various methodologies for the segmentation of the IH, including both shallow and deep methodologies. Acknowledging the lack of data in the field for a robust learning of deep models, we also evaluate transfer learning techniques to benefit from knowledge extracted in other skin lesions. The best results were obtained with the shortest path method and a multiscale convolutional neural network that merges two pipelines working at different scales. Although promising, the results put in evidence the need for better databases, collected under suitable acquisition protocols.

Background Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress (OS). Fanconi anemia (FA) is a genetic disorder associated to redox imbalance and dysfunctional response to OS. Clinically, it is characterized by progressive bone marrow failure, which remains the primary cause of morbidity and mortality. Macrocytosis and increased fetal hemoglobin, two indicators of bone marrow stress erythropoiesis, are generally the first hematological manifestations to appear in FA. However, the significance of RDW and its possible relation to stress erythropoiesis have never been explored in FA. In the present study we analyzed routine complete blood counts from 34 FA patients and evaluated RDW, correlating with the hematological parameters most consistently associated with the FA phenotype. Results We showed, for the first time, that RDW is significantly increased in FA. We also showed that increased RDW is correlated with thrombocytopenia, neutropenia and, most importantly, highly correlated with anemia. Analyzing sequential hemograms from 3 FA patients with different clinical outcomes, during 10 years follow-up, we confirmed a consistent association between increased RDW and decreased hemoglobin, which supports the postulated importance of RDW in the evaluation of hematological disease progression. Conclusions This study shows, for the first time, that RDW is significantly increased in FA, and this increment is correlated with neutropenia, thrombocytopenia, and highly correlated with anemia. According to the present results, it is suggested that increased RDW can be a novel marker of stress erythropoiesis in FA. Electronic supplementary material The online version of this article (doi:10.1186/s13023-016-0485-0) contains supplementary material, which is available to authorized users.