DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20163699

Homozygous methylenetetrahydrofolate reductase -a1298c mutation in a case of precursor B acute lymphoblastic leukemia

Gaurav Tripathi, Manas Kalra, Amita Mahajan

Abstract


Thrombotic events are well recognized during treatment for acute lymphoblastic leukaemia. We report a case of recurrent thrombosis off asparaginase wherein thrombophilia evaluation yielded specific etiology. A 14 year old boy with precursor B cell acute lymphoblastic leukemia (ALL) (high risk) presented with generalized tonic clonic seizures on day +22 of induction. Asparaginase associated thrombotic event was suspected. MRI brain with MRV done showed right frontal lobe infarct and superior sagittal sinus thrombosis with reduced blood flow in left transverse sinus. He was managed conservatively. However, after the first dose of systemic methotrexate therapy he presented with right sided hemiparesis. In view of his recurrent episode thrombosis in the absence of asparaginase, thrombophilia workup was done which showed homozygousity for methylenetetrahydrofolate reductase (MTHFR)-a1298c mutation. MTHFR mutation is a rare cause of thrombophilia which was found in a case of precursor B cell ALL as a cause of recurrent venous thrombosis precipitated by methotrexate therapy.


Keywords


ALL, MTHFR mutation, Recurrent thrombosis, Thrombophillia

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References


Caruso V, Lacoviello L, Castelnuovo AD, Storti S,

Mariani G, Gaetano GD, et al. Thrombotic complications in childhood acute lymphoblastic leukemia: a meta-analysis of 17 prospective studies comprising 1752 pediatric patients. Blood. 2006;108:2216-22.

Nowak GU, Wermes C, Junker R, Koch H, Schobess R, Fleischhack G, Schwabe D, Ehrenforth S. Prospective evaluation of the thrombotic risk in children with acute lymphoblastic leukemia carrying the MTHFR TT 677 genotype, the prothrombin G20210a variant, and further prothrombotic risk factors. Blood. 1999;93:1595-9.

Mitchell L, Hoogendoorn H, Giles AR, Vegh PA, Andrew MA. Increased endogenous thrombin generation in children with acute lymphoblastic leukemia: Risk of thrombotic complications in L-asparaginase-induced antithrombin III deficiency. Blood. 1994;83:386.