Very Rare Amelanotic Lentigo Maligna Melanoma with Skull Roof Invasion.
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ABSTRACT:
SUBMITTER: Wollina U
PROVIDER: S-EPMC5535657 | biostudies-other | 2017 Jul
REPOSITORIES: biostudies-other
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Project description:BackgroundThe study of convergently acquired adaptations allows fundamental insight into life's evolutionary history. Within lepidosaur reptiles-i.e. lizards, tuatara, and snakes-a fully fossorial ('burrowing') lifestyle has independently evolved in most major clades. However, despite their consistent use of the skull as a digging tool, cranial modifications common to all these lineages are yet to be found. In particular, bone microanatomy, although highly diagnostic for lifestyle, remains unexplored in the lepidosaur cranium. This constitutes a key gap in our understanding of their complexly interwoven ecology, morphology, and evolution. In order to bridge this gap, we reconstructed the acquisition of a fossorial lifestyle in 2813 lepidosaurs and assessed the skull roof compactness from microCT cross-sections in a representative subset (n =?99). We tested this and five macroscopic morphological traits for their convergent evolution.ResultsWe found that fossoriality evolved independently in 54 lepidosaur lineages. Furthermore, a highly compact skull roof, small skull diameter, elongate cranium, and low length ratio of frontal and parietal were repeatedly acquired in concert with a fossorial lifestyle.ConclusionsWe report a novel case of convergence that concerns lepidosaur diversity as a whole. Our findings further indicate an early evolution of fossorial modifications in the amphisbaenian 'worm-lizards' and support a fossorial origin for snakes. Nonetheless, our results suggest distinct evolutionary pathways between fossorial lizards and snakes through different contingencies. We thus provide novel insights into the evolutionary mechanisms and constraints underlying amniote diversity and a powerful tool for the reconstruction of extinct reptile ecology.
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2017-09-26 | GSE104198 | GEO
Project description:BackgroundEwing sarcoma is a malignant bone tumor; however, its prognosis has improved since the development of modern chemotherapy. Although Ewing sarcoma outcomes have improved, issues related to late complications, secondary malignant neoplasms, and late recurrence or metastasis have emerged.Case presentationWe report a case of Ewing sarcoma that recurred in the occipital bone 21 years after primary tumor treatment. A 45-year-old Japanese woman with a history of Ewing sarcoma 21 years prior, was referred to our hospital due to a severe headache. A tumor was detected in the left occipital bone, and the biopsy revealed Ewing sarcoma. Metastasis was suspected because the patient had been treated for Ewing sarcoma of the left clavicle 21 years prior. There have been several cases of local recurrence or metastasis, occurring 15-20 years after the onset of the initial disease. To our knowledge, very late metastasis of Ewing sarcoma in the skull has not been reported.ConclusionWe report a rare case of very late metastasis of Ewing sarcoma in the skull with a review of the literature. Delayed metastasis secondary to Ewing sarcoma can occur in the lung, which is the most common site for metastasis, as well as other regions of the body, such as the cranium.
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Project description:BackgroundThe transforming growth factor-beta (TGF-beta) pathway, which has both tumor suppressor and pro-oncogenic activities, is often constitutively active in melanoma and is a marker of poor prognosis. Recently, we identified GLI2, a mediator of the hedgehog pathway, as a transcriptional target of TGF-beta signaling.MethodsWe used real-time reverse transcription-polymerase chain reaction (RT-PCR) and western blotting to determine GLI2 expression in human melanoma cell lines and subsequently classified them as GLI2high or as GLI2low according to their relative GLI2 mRNA and protein expression levels. GLI2 expression was reduced in a GLI2high cell line with lentiviral expression of short hairpin RNA targeting GLI2. We assessed the role of GLI2 in melanoma cell invasiveness in Matrigel assays. We measured secretion of matrix metalloproteinase (MMP)-2 and MMP-9 by gelatin zymography and expression of E-cadherin by western blotting and RT-PCR. The role of GLI2 in development of bone metastases was determined following intracardiac injection of melanoma cells in immunocompromised mice (n = 5-13). Human melanoma samples (n = 79) at various stages of disease progression were analyzed for GLI2 and E-cadherin expression by immunohistochemistry, in situ hybridization, or RT-PCR. All statistical tests were two-sided.ResultsAmong melanoma cell lines, increased GLI2 expression was associated with loss of E-cadherin expression and with increased capacity to invade Matrigel and to form bone metastases in mice (mean osteolytic tumor area: GLI2high vs GLI2low, 2.81 vs 0.93 mm(2), difference = 1.88 mm(2), 95% confidence interval [CI] = 1.16 to 2.60, P < .001). Reduction of GLI2 expression in melanoma cells that had expressed high levels of GLI2 substantially inhibited both basal and TGF-beta-induced cell migration, invasion (mean number of Matrigel invading cells: shGLI2 vs shCtrl (control), 52.6 vs 100, difference = 47.4, 95% CI = 37.0 to 57.8, P = .024; for shGLI2 + TGF-beta vs shCtrl + TGF-beta, 31.0 vs 161.9, difference = -130.9, 95% CI = -96.2 to -165.5, P = .002), and MMP secretion in vitro and the development of experimental bone metastases in mice. Within human melanoma lesions, GLI2 expression was heterogeneous, associated with tumor regions in which E-cadherin was lost and increased in the most aggressive tumors.ConclusionGLI2 was directly involved in driving melanoma invasion and metastasis in this preclinical study.
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