scholarly journals Case report: severe toxicity in an African–American patient receiving FOLFOX carrying uncommon allelic variants in DPYD

2020 ◽  
Author(s):  
Tristan M Sissung ◽  
Lisa Cordes ◽  
Cody J Peer ◽  
Shruti Gandhy ◽  
Jason Redman ◽  
...  

Cancers of the colon are commonly treated with fluoropyrimidines, which often cause severe toxicities in patients with certain variants in DPYD. Y186C (rs115232898) and a variant in the 3′ untranslated region (rs12132152) are uncommon alleles previously observed in African–Americans. An African–American female underwent 5-fluorouracil-based therapy (400 mg/m2 bolus, 1200 mg/m2/day over 46 h). The patient experienced severe pancytopenia after the first cycle. After 5-fluorouracil (5-FU) dose reduction (600 mg/m2/day), the steady-state 5-FU plasma concentration became 474 ng/ml (range 301–619 ng/ml) and increased following a subsequence dose increase (800 mg/m2/day; 1248 ng/ml). After a 1000 mg/m2/day dose resulted in myelosuppression, 5-FU was again de-escalated for the remaining cycles (600 mg/m2). The observed complications are likely a function of uncommon genetic variants that affect DPYD metabolism.

2018 ◽  
Vol 3 (2) ◽  
Author(s):  
Ravi Shankar Krishnan ◽  
Christy Badgwell ◽  
Daniel Yoshor ◽  
Ida Orengo

<p>There is a known association between nevus of Ota and melanomas involving the brain parenchyma and/or the meninges. We present the unusual case of a 32-year-old African-American female with a nevus of Ota and a contralateral parenchymal, primary CNS melanoma. We discuss the unique features of this case and provide a brief review of the literature regarding nevi of Ota and associated CNS melanoma. Our patient is a 32 year-old, African-American female with a left-sided nevus of Ota who presented with a three month history of headaches and paresthesias involving her left face and arm. An MRI of the brain revealed a hemorrhagic mass in the right temporal lobe, which, after craniotomy, was determined to be a melanoma. Extensive imaging, ophthamologic examination and full-body skin examination revealed no other foci of melanoma. To our knowlege, this is the only case of a nevus of Ota associated with contralateral parenchymal melanoma in an African-American patient. The association of contralateral parenchymal primary CNS melanoma with nevus of Ota is extremely unusual.  Futhermore, despite the association of nevus of Ota with CNS melanoma, the literature does not support routine screening of patients with nevus of Ota for CNS melanoma with imaging modalities. </p>


2009 ◽  
Vol 23 (03) ◽  
pp. 223-231 ◽  
Author(s):  
Adeyiza Momoh ◽  
Daniel Hatef ◽  
Anthony Griffin ◽  
Anthony Brissett

2007 ◽  
Vol 9 (6) ◽  
pp. 468-475 ◽  
Author(s):  
Jackson T. Wright ◽  
Kenneth A. Jamerson ◽  
Keith C. Ferdinand

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