Special Article - Acute and Chronic Myeloid Leukemia
Ann Hematol Oncol. 2016; 3(11): 1122.
Acute Myeloid Leukemia Featuring Extramedullary Disease and Tetrasomy of Chromosome 8
Ishizuka J1, Dal Cin P2, McLaughlin C2 and Garcia JS1*
1Department of Medical Oncology, Dana-Farber Cancer Institute, USA
2Department of Pathology, Brigham and Women’s Hospital, USA
*Corresponding author: Jacqueline S. Garcia, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, 450 Brookline Avenue, 02215, USA
Received: October 24, 2016; Accepted: November 05, 2016; Published: November 08, 2016
Clinical Image
A 29-year-old woman who was nine months post-partum presented with subacute back pain, left lower extremity numbness and weakness, fever and drenching night sweats. A computed tomography (CT) scan of the abdomen/pelvis revealed bilateral adnexal masses up to 11x8 cm. Follow-up PET/CT revealed additional FDG-avid masses (Figure 1). Her complete blood count revealed pancytopenia. CA-125, CA-19-9 and CEA laboratories were unremarkable. Her peripheral smear demonstrated blasts. Bone marrow biopsy confirmed a diagnosis of acute myeloid leukemia (AML) with monocytic differentiation. A49,X,-X,del(1)(q12),+8,+8,+20,+der(?)t(1;?)(q12;?) karyotype (Figure 2A) was observed in one of 20 metaphases. FISH analysis confirmed an abnormal population (22%) carrying both tetrasomy 8 and trisomy 20 in 22% of examined nuclei (Figure 2B). She achieved brief morphologic and cytogenetic remission with induction chemotherapy. Although she was consolidated with allogeneic hematopoietic stem cell transplantation, she unfortunately succumbed to her disease 112 days later.
Figure 1: PET/CT with FDG-avoid nodal, spleen, bone marrow, left adrenal,
and intrathoracic and intrapelvic tissue.
Figure 2: Cytogenetics demonstrating 49,X-X,del(1)(q12),+8,+8,+20,+der(?)
t(1;?)(q12;?) karyotype.
Figure 2B: Fluorescence in situ hybridization (FISH) analysis confirming an
abnormal population carrying tetrasomy 8 (green) and trisomy 20 (red) in
22% of nuclei examined.
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