The role of optical coherence tomography in the diagnosis of the leukemic infiltration of the optic nerve and retina

Even though there are multiple diseases of the optic nerve and the retina in patients with hemoblastosis, their ophthalmoscopic picture is similar in many respects. The purpose of this study is to determine the role of optical coherence tomography (OCT) in the differential diagnosis of various manifestations of hemoblastosis in the fundus. Material and methods. From Jan. 2015 to Jan. 2019, 9 patients (5 men and 4 women aged 29 to 72) with hemoblastosis and lesions of the optic nerve and retina were examined. Results. 5 patients were diagnosed with leukemic infiltration of the optic nerve. The remaining 4 patients had, congestive optic discs (1), occlusion of the central retinal vein (1), anterior ischemic optic neuropathy (1), and bilateral occlusion of the central retinal artery with leukemic infiltration of eye membranes (1). The article describes the ophthalmoscopic pictures and OCT data for the specific diseases. Unlike other diseases of the optic nerve and retina, leukemic infiltration is characterized by a pronounced dense edema in the inner layers of the retina with shielding of the underlying outer layers of the retina. Conclusion. OCT is an important additional method for differential diagnosis of leukemic infiltration and other diseases of the optic nerve and retina in patients with hemoblastosis.

Acute Myeloid Leukemia Leading to Central Diabetes Insipidus

Background: Central diabetes insipidus (CDI) as a complication of acute myeloid leukemia (AML) is rare, occurring in less than 0.6% of AML cases. The mechanism is thought to involve leukemic infiltration in or around the pituitary gland, not always seen on imaging. In one study, as many as 61.4% of patients with CDI due to AML had no abnormalities on MRI, and at autopsy 46% of AML patients had perihypohyseal leukemic infiltration in the absence of overt CDI. CDI is also associated with AML in cases that involve monosomy 7 and inversion 3q21q26, both of which result in ectopic viral integration site 1 (EVI-1) overexpression. It is postulated that EVI-1 overexpression interferes with hypothalamic secretion of antidiuretic hormone (ADH) or may lead to its inactivation. We present a case of adipsic CDI due to AML in a patient with monosomy 7. Case: A 70-year-old female presented for routine follow-up and was found to have a white blood cell count of 2.6 K/µL with 29% blasts, anemia (Hgb 10.3 g/dL) and normal platelets (300 K/µL). She was diagnosed with AML and molecular evaluation showed del (3)(q21),-7,add(17(p13) consistent with monosomy 7. She was admitted for induction chemotherapy with cytarabine, daunorubicin and intrathecal methotrexate. She denied thirst. On physical exam she was euvolemic and visual fields were full on confrontation. Her admission sodium was 146 mmol/L, urine osmolality was 149 mOsm/kg H2O, urine sodium 14 mmol/L. Urine output was 5.1 L over the first 24 hours. She underwent a 6 hour water deprivation test, during which her urine output averaged 250 cc/hr. Her sodium increased to 158 mmol/L, serum osmolality 331 mOsm/kg H2O, urine osmolality 146 mOsm/kg H2O. She was then administered 100 µg of DDAVP PO and her serum sodium and osmolality decreased to 155 mmol/L and 326 mOsm/kg H2O, respectively, while her urine osmolality nearly doubled to 292 mOsm/kg H2O. Urine output decreased to 50-100 cc/hr. At no point during her testing did she report thirst. The patient’s pituitary laboratory profile did not show any other abnormalities. Her pituitary MRI revealed subtle thickening of the proximal infundibulum and hypothalamus but no definitive intra-sellar pathology. She was discharged on twice daily DDAVP with a sodium of 142. Unfortunately, her AML was refractory to treatment. She was transitioned to comfort care and died peacefully. Conclusion: CDI as a complication of AML is very rare and is a poor prognostic marker. Based on her MRI findings, the most likely mechanism in this case was infundibular/hypothalamic infiltration. Her adypsia is interesting and may point to more generalized hypothalamic involvement including thirst center. Her monosomy 7 mutation may have also played a role. We present this case to bring awareness to this etiology of DI and its proposed mechanisms.

Leukemic infiltration of the ovary as an initial presentation of chronic myeloid leukemia in chronic phase

Introduction: We report a case of a newly diagnosed patient with chronic myeloid leukemia in chronic phase, with leukemic infiltration of the right ovary on disease presentation.Case report: The patient presented with abdominal pain, leukocytosis, and anemia. Peripheral blood smear was indicative of chronic myloid leukemia and cytoreductive treatment was started. Due to the worsening of the abdominal pain, a computerized tomography was done. It revealed a cystic tumor of the right ovary. The tumor was surgically removed. Bone marrow examination confirmed the diagnosis of chronic myloid leukemia in chronic phase. Immunohistochemical analysis of the ovarian tumor showed leukemic infiltration with 5% of blasts. The patient was treated with imatinib for one year. Due to treatment failure, imatinib was switched to nilotinib. Allogeneic stem cell transplantation is considered. Conclusion: This case points out the critical role of multidisciplinary team approach and close treatment monitoring to achieve the best possible outcome.

Minimal Residual Disease Quantification in Ovarian Tissue Collected in Patients in Complete Remission of Acute Leukemia

Ovarian tissue cryopreservation (OTC) is offered to women treated for acute leukemia to preserve their fertility before hematopoietic stem cell transplantation. The risk of leukemic infiltration in ovarian samples harvested before administration of chemotherapy limits ovarian tissue transplantations. We assessed the minimal residual disease (MRD) by sensitive quantitative polymerase chain reaction in cryopreserved ovarian cortex and medulla samples harvested from 30 patients in complete remission of acute leukemia, including 60 % with negative bone marrow MRD at the time of OTC. Ovarian MRD was undetectable in 21 patients (70%), detectable below 10-4 in 8 patients (27%) and between 10-3 and 10-4 in 1 patient (3%). Twenty patients (67%) had concordant MRD between bone marrow and ovarian samples. Interestingly 4 patients had positive MRD in ovarian samples while undetectable in bone marrow. Our results underline the importance of reaching the best control of the disease with undetectable or low MRD levels before OTC to minimize the risk of ovarian leukemic infiltration. The discordant results between ovarian samples and bone marrow require to test the more ovarian samples available before considering ovarian tissue transplantation.