Intracranial undifferentiated pleomorphic sarcoma remains a rare pathology within the sarcoma literature that may arise primarily or secondary after radiation therapy. Despite first-line treatment with maximal surgical resection, followed by nonstandardized adjuvant chemotherapy/radiation regimens, clinical prognosis remains exceedingly poor. Furthermore, there is a lack of genetic or molecular characterization to guide potential for targeted therapies. We present genomic analysis of a radiation-induced intracranial undifferentiated pleomorphic sarcoma in an 83-year-old woman with notable KIT and PDGFRA alterations. Further similar genomic studies of intracranial pleomorphic sarcoma are needed to develop better therapies for this rare but challenging disease entity.

Christopher S. Hong

Edwin Partovi

James Clune

Anita Huttner

Henry S. Park

Sacit Bulent Omay

Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma

We report a 15-year-old boy with cat-eye syndrome (CES) without short stature or intellectual disorder. The boy was confirmed by cytogenetic and high-resolution chromosome microarray analysis (CMA). The G-banding karyotype confirmed the de novo of the patient. Also, the CMA result showed 1.76&#x2009;Mb tetrasomy of proximal 22Q11.1&#x2009;&#x27f6;&#x2009;22Q11.21 consistent with CES {arr22q11.1q11.21 (16,888,899&#x2013;18,644,241) X4}, a typical small type I CES chromosome. The patient has many of the basic characteristics of CES; however, he is taller than his peers instead of shorter. It is rarely reported in the past since short stature is a common feature of this syndrome. Furthermore, the boy has no intellectual disorder and attends a normal school since he was six-year-old. What bothered him most were recurrent respiratory infections, retromicrognathia, and heart defects.

Jinjie Li

Yue Zhang

Yanjun Diao

Rui Li

Liqing Jiang

Lei Zhou

Jiayun Liu

Weixun Duan

Liu Yang

A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome

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Case Reports in Genetics

Table of Contents

Table of Contents: 2021

Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma

A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome