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Next generation sequencing as an aid to diagnosis and treatment of an unusual pediatric brain cancer.

Glod J, Song M, Sharma A, Tyagi R, Rhodes RH, Weissmann DJ, Roychowdhury S, Khan A, Kane MP, Hirshfield K, Ganesan S, DiPaola RS, Rodriguez-Rodriguez L - J Pers Med (2014)

Bottom Line: Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist.We present a case of a 12-year-old girl with a primary intracranial tumor.Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics.

View Article: PubMed Central - PubMed

Affiliation: Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA. john.glod@nih.gov.

ABSTRACT
Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical behavior were unusual. Genomic characterization of the tumor using a Clinical Laboratory Improvement Amendment (CLIA)-certified next-generation sequencing assay assisted in the diagnosis and translated into patient benefit, albeit transient. Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics.

No MeSH data available.


Related in: MedlinePlus

(A) The patient developed a delayed intratumoral hemorrhage requiring hemicraniectomy and evacuation of the hemorrhage and tumor. The noncontrast head CT shows the acute hemorrhage within the right Sylvian fissure extending into the right frontal lobe; (B) The post-contrast t1-weighted image after the second surgery shows subtotal removal of the neoplasm and evacuation of the intratumoral hemorrhage.
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jpm-04-00402-f003: (A) The patient developed a delayed intratumoral hemorrhage requiring hemicraniectomy and evacuation of the hemorrhage and tumor. The noncontrast head CT shows the acute hemorrhage within the right Sylvian fissure extending into the right frontal lobe; (B) The post-contrast t1-weighted image after the second surgery shows subtotal removal of the neoplasm and evacuation of the intratumoral hemorrhage.

Mentions: Postoperatively, the patient remained neurologically intact. One month after her initial surgery, however, the patient developed a rapidly worsening mental status that progressed to coma. Imaging studies showed a hemorrhage within and an interval growth of the tumor (Figure 3A). The patient underwent an emergent craniotomy with the evacuation of the hemorrhage and near total resection of the residual tumor (Figure 3B). Although the patient experienced a complete recovery from a cognitive standpoint, she did have a severe left-sided hemiparesis. Two months after the emergent surgery, she underwent another craniotomy for the resection of the recurrent tumor and replacement of her bone flap in preparation for radiation therapy. At that time the tumor was noted to be densely adherent to the overlying dura and temporalis muscle, from which all gross tumor was removed. The resected tumor revealed a few minute areas of infiltration into superficial cortex with no bulk tumor identified within the brain. However, areas of dural infiltration and some infiltration of the temporalis muscle were identified.


Next generation sequencing as an aid to diagnosis and treatment of an unusual pediatric brain cancer.

Glod J, Song M, Sharma A, Tyagi R, Rhodes RH, Weissmann DJ, Roychowdhury S, Khan A, Kane MP, Hirshfield K, Ganesan S, DiPaola RS, Rodriguez-Rodriguez L - J Pers Med (2014)

(A) The patient developed a delayed intratumoral hemorrhage requiring hemicraniectomy and evacuation of the hemorrhage and tumor. The noncontrast head CT shows the acute hemorrhage within the right Sylvian fissure extending into the right frontal lobe; (B) The post-contrast t1-weighted image after the second surgery shows subtotal removal of the neoplasm and evacuation of the intratumoral hemorrhage.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4263965&req=5

jpm-04-00402-f003: (A) The patient developed a delayed intratumoral hemorrhage requiring hemicraniectomy and evacuation of the hemorrhage and tumor. The noncontrast head CT shows the acute hemorrhage within the right Sylvian fissure extending into the right frontal lobe; (B) The post-contrast t1-weighted image after the second surgery shows subtotal removal of the neoplasm and evacuation of the intratumoral hemorrhage.
Mentions: Postoperatively, the patient remained neurologically intact. One month after her initial surgery, however, the patient developed a rapidly worsening mental status that progressed to coma. Imaging studies showed a hemorrhage within and an interval growth of the tumor (Figure 3A). The patient underwent an emergent craniotomy with the evacuation of the hemorrhage and near total resection of the residual tumor (Figure 3B). Although the patient experienced a complete recovery from a cognitive standpoint, she did have a severe left-sided hemiparesis. Two months after the emergent surgery, she underwent another craniotomy for the resection of the recurrent tumor and replacement of her bone flap in preparation for radiation therapy. At that time the tumor was noted to be densely adherent to the overlying dura and temporalis muscle, from which all gross tumor was removed. The resected tumor revealed a few minute areas of infiltration into superficial cortex with no bulk tumor identified within the brain. However, areas of dural infiltration and some infiltration of the temporalis muscle were identified.

Bottom Line: Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist.We present a case of a 12-year-old girl with a primary intracranial tumor.Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics.

View Article: PubMed Central - PubMed

Affiliation: Rutgers Cancer Institute of New Jersey, 195 Little Albany Street, New Brunswick, NJ 08903, USA. john.glod@nih.gov.

ABSTRACT
Classification of pediatric brain tumors with unusual histologic and clinical features may be a diagnostic challenge to the pathologist. We present a case of a 12-year-old girl with a primary intracranial tumor. The tumor classification was not certain initially, and the site of origin and clinical behavior were unusual. Genomic characterization of the tumor using a Clinical Laboratory Improvement Amendment (CLIA)-certified next-generation sequencing assay assisted in the diagnosis and translated into patient benefit, albeit transient. Our case argues that next generation sequencing may play a role in the pathological classification of pediatric brain cancers and guiding targeted therapy, supporting additional studies of genetically targeted therapeutics.

No MeSH data available.


Related in: MedlinePlus