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American Journal of Case Reports is ranked the World leading among journals dedicated to publishing clinical case reports. AJCR is indexed in Web of Science, PubMed/ PMC, Scopus

(1) CiteScore (Impact Factor - like by Scopus, Elsevier) is the number of citations received by a journal in one year to documents published in the three previous years, divided by the number of documents indexed in Scopus published in those same three years.

(2) SNIP (Source Normalized Impact per Paper) measures a source’s contextual citation impact by weighting citations based on the total number of citations in a subject field. It helps you make a direct comparison of sources in different subject fields. SNIP takes into account the characteristics of the source's subject field, which is the set of documents citing that source.

(3) SJR is weighted by the prestige of a journal. Subject field, quality, and reputation of the journal have a direct effect on the value of a citation. SJR assigns relative scores to all of the sources in a citation network. Its methodology is inspired by the Google PageRank algorithm, in that not all citations are equal. A source transfers its own 'prestige', or status, to another source through the act of citing it. A citation from a source with a relatively high SJR is worth more than a citation from a source with a lower SJR. 

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Clinical case reports are an invaluable first-hand source of evidence in medicine and a tool most often used in practice to exchange information and generate a more expanded search for evidence. In addition to the “evidence of what happened”, single or multiple cases are an important basis for further and more advanced research on diagnosis, treatment effectiveness, causes and outcomes of disease. However limited their conclusions may be, case reports remain a fundamental component of medicine, contributing greatly to the advancement of health care. In today's ever-expanding Evidence-Based Medicine, case reporting require a well-defined focus, content, and structure.

Presently, only a fraction of case reports is useful for clinical decision-making and bedside-decision oriented research. Therefore, the aim of the Journal is to gather case reports across medical disciplines, thereby integrating interdisciplinary, international medical knowledge.


Published: 2019-07-16

A Case of Papillary Thyroid Carcinoma and Kostmann Syndrome: A Genomic Theranostic Approach for Comprehensive Treatment

Soo Han, John Ehrhardt Jr., Savya Shukla, Adel Elkbuli, Yuri E. Nikiforov, Seza A. Gulec

(Department of Surgery, Kendall Regional Medical Center, Miami, USA)

Am J Case Rep 2019; 20:1027-1034

DOI: 10.12659/AJCR.916143


BACKGROUND: Theranostics is a combined diagnostic and treatment approach to individualized patient care. Kostmann syndrome, or severe congenital neutropenia, is an autosomal recessive disease that affects the production of neutrophils. Papillary thyroid carcinoma (PTC) is the most common type of thyroid malignancy associated with gene alterations, including in the mitogen-activated protein kinase (MAPK) signaling pathway gene. Translocation of the ETS variant 6/neurotrophic receptor tyrosine kinase 3 (ETV6/NTRK3) gene has been implicated in radiation-induced and pediatric forms of thyroid carcinoma but has rarely been described in sporadic PTC. This report is of a case of PTC in a patient with Kostmann syndrome associated with ETV6/NTRK3 gene translocation.
CASE REPORT: A 32-year-old woman with a history of Kostmann syndrome, acute myeloid leukemia (AML), and chronic graft versus host disease (GVHD) was diagnosed with PTC with cervical lymph node metastases and soft tissue invasion following total thyroidectomy and bilateral modified radical neck dissection. Her postoperative radioactive iodine (RAI) scan confirmed lymph node metastasis. Gene expression studies identified increased expression of iodine-handling genes and ETV6/NTRK3 gene fusion. Because of the bone marrow compromise due to Kostmann syndrome and AML, a careful genomic and molecular analysis was performed to guide therapy.
CONCLUSIONS: This is the first reported case of the association between PTC, Kostmann syndrome, and ETV6/NTRK3 gene translocation in which multimodality treatment planning was optimized by genomic profiling.

Keywords: Gene Fusion, Genomics, Iodine Radioisotopes, Nanomedicine, Neutropenia, Thyroid Neoplasms



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