Isolated Ocular Manifestation of Relapsed Chronic Myelogenous Leukemia Presenting as Myeloid Blast Crisis in a Patient on Imatinib Therapy: A Case Report and Review of the Literature

Abstract

Blast phase in chronic myelogenous leukemia (CML) has rarely been reported to involve extramedullary sites like skin, lymph nodes, and central nervous system. Clinical history, characteristic hematologic findings (elevated leukocyte counts, myelocytic predominance, and basophilia), and Philadelphia chromosome are of high diagnostic significance especially in isolated extramedullary presentations. We describe a unique case of CML relapse with blast phase involving the eye. A 66-year-old man with a known diagnosis of CML on imatinib and in molecular remission for 3 years presented with a painful blind eye. Histologic examination revealed diffuse involvement of choroid, iris, vitreous humor, and the optic nerve by blast cells. The blasts expressed CD34, aberrant TdT, and a myeloid phenotype (CD13, CD33, and CD117). Fluorescence in situ hybridization (FISH) of vitreous fluid detected BCR-ABL1 gene rearrangement. Additionally, trisomy 8 and gains of 9 and 22 were seen which were not present in the initial diagnostic marrow study 3 years ago. At relapse, the bone marrow, peripheral blood, and the cerebrospinal fluid were not involved by CML. Patient received induction chemotherapy and single dose prophylactic intrathecal methotrexate and was maintained on antityrosine kinase therapy and eventually underwent allogenic stem cell transplantation.

Ophthalmologic manifestations as the initial presentation of chronic myeloid leukemia: A review

“…The median age was 37.05 years (range 27.5-49), and 67.5 % of patients were male. Most of the cases were initial presentations of CML (33 cases), and only five of them were in relapses 4,[8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][25][26][27][28][29][30][31][32][35][36][37][39][40][41][42][43][44][45][46][47] . The retina was most often involved, with retinal hemorrhages as the most common finding.…”

“…Nine presented with unilateral CML-related ophthalmic findings. 12,17,20,22,27,32,33,39,42 Eight of these had unilaterallydecreased of vision, and 1 had normal vision. 12 Thirty-one patients presented with bilateral ophthalmic findings 4,[8][9][10][11][13][14][15][16]18,19,[23][24][25][26][28][29][30][31][32][34][35][36][37][38][40][41][42]44,46 .…”

Extramedullary sudden blast crisis in chronic-phase chronic myeloid leukemia during first-line treatment with nilotinib

“…The novelty of this case relies on the fact that there are only 10 cases of isolated extramedullary SBC reported so far and only 1 involving the lymph nodes. 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 Moreover, this is the first case of SBC reported so far under nilotinib first-line treatment. In addition, this is among the very few cases, where mutational analysis was undertaken from the affected tissue, and the only one in which a pan-resistant T315I mutation was documented.…”

“…Table 1 summarizes disease characteristics and outcomes in reported cases of CP CML with extramedullary SBC on first-line treatment with imatinib. 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 Interestingly, a male predominance is noticed and 7/10 cases are <60 years. In contrast to the short interval between imatinib initiation and SBC described in SBC involving the BM, only 3/10 extramedullary SBC reported patients had received imatinib for less than a year up to SBC.…”

A Rare Monocytic Crisis of Chronic Myelogenous Leukemia Presenting with Unusual Extramedullary Manifestations and an Atypical (14;22)(q24;q11.2) Translocation in the Bone Marrow

“…The optic nerve is another rare site of CNS invasion ( 17 - 19 ). In an autopsy study, 16% of CML cases showed optic nerve involvement ( 20 ).…”