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Endocrine Pathology
Research Hotspot & Journal Scope - Mutation


Endocrine Pathology - DOI: 10.1007/s12022-019-09580-7
TERT Promoter Mutation Spatial Heterogeneity in a Metastatic Follicular Thyroid Carcinoma: Implications for Clinical Work-Up

Adam Stenman · Martin Hysek · Kenbugul Jatta · Robert Bränström · Eva Darai-Ramqvist · Johan O. Paulsson · Na Wang · Catharina Larsson · Jan Zedenius · Carl Christofer Juhlin ·

Medicine
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Endocrine Pathology - DOI: 10.1007/s12022-019-09595-0
Loss of BAP1 in Pheochromocytomas and Paragangliomas Seems Unrelated to Genetic Mutations

Valeria Maffeis · Rocco Cappellesso · Lorenzo Nicolè · Vincenza Guzzardo · Chiara Menin · Lisa Elefanti · Francesca Schiavi · Maria Guido · Ambrogio Fassina ·

Biology Medicine
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Endocrine Pathology - DOI: 10.1007/s12022-019-09596-z
Testing for BRAF (V600E) Mutation in Thyroid Nodules with Fine-Needle Aspiration (FNA) Read as Suspicious for Malignancy (Bethesda V, Thy4, TIR4): a Systematic Review and Meta-analysis

Pierpaolo Trimboli · Lorenzo Scappaticcio · Giorgio Treglia · Leo Guidobaldi · Massimo Bongiovanni · Luca Giovanella ·

Medicine
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Endocrine Pathology - DOI: 10.1007/s12022-019-09594-1
Malignant Intrarenal/Renal Pelvis Paraganglioma with Co-Occurring SDHB and ATRX Mutations

Trent Irwin · Eric Q Konnick · Maria S Tretiakova ·

Medicine
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Endocrine Pathology - DOI: 10.1007/s12022-019-09588-z
RET Proto-oncogene Gene Mutation Is Related to Cervical Lymph Node Metastasis in Medullary Thyroid Carcinoma

Sisi Wang · Bo Wang · Chao Xie · Daoxiong Ye ·

Medicine
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The mutation rates of BCR-ABL fusion gene and BCR-ABL mutation rates in different stages were compared between CML and healthy children.

Correlation analysis between BCR-ABL fusion gene and chronic myeloid leukemia [10.3760/CMA.J.ISSN.1007-1245.2019.02.017]


Concerning survival, it was conditioned by a lower ELN risk score, younger age, reduction > 1 log of the NPM1 mutational burden, disappearance of FLT3 mutations and lower WT1 expression.

The assessment of minimal residual disease versus that of somatic mutations for predicting the outcome of acute myeloid leukemia patients [10.1186/s12935-019-0807-0]


The 2017 European LeukemiaNet (ELN) recommendations defined four distinct FLT3-ITD genotypes based on the ITD-AR and the NPM1 mutational status.

Impact of NPM1/FLT3-ITD genotypes defined by the2017 European LeukemiaNet in patients with acute myeloid leukemia. [10.1182/blood.2019002697]


Il se caracterise par une triade cutanee, articulaire et oculaire lie a une mutation du gene NOD2.

Identification d’une nouvelle mutation de NOD2 chez un nourrisson ayant un syndrome de Blau de révélation précoce [10.1016/j.annder.2019.09.273]


Mutation profiling of biBC pairs suggested that most biBCs are clonally independent malignancies, although some instances of presumably contralateral metastatic spread were shown as well.

Systemic investigations into the molecular features of bilateral breast cancer for diagnostic purposes [10.1080/14737159.2020.1705157]


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