Department of Medicine Grand Rounds Clinical Vignette
Sameer Dhalla, M.D. November 15th, 2006
Chief Complaint
26-year-old South-Asian male who presents with 1 month of refractory left groin and left leg pain along with one day of impaired vision
HPI
Patient was in his usual state of good health until 1 month prior to presentation, when he developed progressive pain in his left groin, 7/10 severity, with radiation to his thigh. In addition, he noted patches of numbness along the anterior lateral thigh and painful hyperesthesia of the anterior medial thigh.
HPI
Over the course of the month, he was evaluated in the ER twice, given first NSAIDs and then corticosteroids, both which failed to palliate his symptoms. On the morning of presentation, he awoke with difficulty focusing vision in his left eye. He presented to the ER and was admitted for further evaluation
Physical Exam
General: A thin, well developed male, appearing stated age. Uncomfortable and apprehensive, but in no acute distress. VS: T 98.3 HR 75 BP 106/65 RR 16 Sat 100% RA HEENT: Mild conjuctival pallor. Decreased left eye visual acuity. Left retinal hemorrhage on fundoscopy. ABD: Spleen tip palpable in right hemiabdomen 2 cm beyond umbilicus Neuro: Left thigh numbness to light touch and pinprick along lateral anterior surface. Increased pain to light touch along medial thigh.
Labs
WBC Hgb HCT PLT 320,000 8.2 25.3 251 Na 141 K 4.5 Cl 105 CO2 25 BUN 15 Cr 0.8 Glucose 80
MCV
83
PMN 79% Lymph 16% Blasts 3% Promyelocyte 2%
Radiology
Head CT: Left retinal hemorrhage
CT lumbar spine: Bilateral 4x6 cm fluid collection, measuring 39-44 HU, located anterior to the iliacus muscle. DDx: Hematoma vs. Leukemia. No cord compression
Preliminary Diagnosis
Chronic Myelogenous Leukemia
Therapeutic Course
Upon admission, transfused with packed red blood cells. Given 3 days of Hydroxyurea pharmacotherapy. On HD#3, started Imatinib Mesylate (Gleevec) 400 mg PO daily.
Bone Marrow Biopsy: Hypercellular marrow, no blasts seen, increased M:E ratio Cytogenetics: 9;22 translocation (the Philadelphia chromosome) seen in 20/20 metaphases
Therapeutic Course
Patient was hospitalized for 1 week, over which time his symptoms and blood counts demonstrated a response to Gleevec. Discharged on Gleevec 400 mg PO daily. Karotype performed following 3 months of therapy demonstrated 3/17 metaphases with 9;22 translocations. FISH demonstrated 1 cell (0.4%) with a double Philadelphia chromosome (no prior FISH performed). Gleevec increased to 800 mg for concern of accelerating disease. 1 month later, complete remission identified on bone marrow biopsy. Patient was now asymptomatic. Fluid masses no longer present on repeat CT of lumbar spine
Therapeutic Course
Patient has now been taking Imatinib for over 24 months with no clinical or laboratory evidence of CML recurrence. Although 3 HLA 9/10 unrelated C-locus mismatches exist, stem cell transplantation is currently being deferred. Pt has reported only minor side-effects, including lower extremity vitiligo, intermittent hypophosphatemia.
Final Diagnosis
Chronic Myelogenous Leukemia in Accelerated Phase with Extramedullary Involvement