ABSTRACT
OBJECTIVES: Acute myeloid leukemia (AML) with t(8;16)(p11;p13) abnormalities is a rare, aggressive, and diagnostically challenging subtype that results in KAT6A-CREBBP gene fusion. METHODS: To investigate their immunophenotype and genomic features, we identified 5 cases of AML with t(8;16) through a retrospective review of the databases at Northwestern Memorial Hospital in Chicago, IL, and Washington University Medical Center, in St Louis, MO. RESULTS: In all, 4 of 5 cases were therapy related and 1 was possibly therapy related. The leukemic blasts showed distinctive features, including bright CD45 expression and remarkably high side scatter that overlapped with maturing myeloid elements, making the blasts difficult to identify on initial examination. They were positive for CD13, CD33, and CD64 and negative for CD34 and CD117. Next-generation sequencing profiling of 4 cases revealed pathogenic ASXL1 (2 cases), FLT3-tyrosine kinase domain (TKD) mutations (2 cases), and other pathogenic mutations. In 3 patients, t(8;16) was the sole cytogenetic abnormality; additional aberrations were found in 2 patients. Single nucleotide polymorphism microarray revealed 1 case with 7q deletion as a secondary clone. CONCLUSIONS: Our data highlight the distinctive immunophenotypic profile of AML with t(8;16), which, along with its unique morphology, often presents a diagnostic challenge. We showed that mutations of either ASXL1 or FLT3-TKD are seen in most cases of this leukemia.
Subject(s)
Leukemia, Myeloid, Acute , Chromosome Aberrations , Flow Cytometry/methods , Humans , Immunophenotyping , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Mutation , Translocation, GeneticABSTRACT
BACKGROUND: We report a patient with primary central nervous system mixed malignant germ cell tumor (GCT) who presented with recurrent malignant germinomatous infiltration of the retina. CASE DESCRIPTION: A 10-year-old girl initially presented with a large suprasellar mixed malignant GCT with a near-complete response after initial induction of chemotherapy and irradiation. Three and a half years after initial therapy, she presented with progressively worsening vision in her left eye. Magnetic resonance imaging showed infiltrative changes within the left optic nerve but no discrete mass. Serum and cerebrospinal fluid tumor markers were not elevated and cerebrospinal fluid cytology was negative. Left optic nerve biopsy confirmed the presence of mature teratoma and pure germinoma components. She was treated with gross-total resection of the left eye and optic nerve and chemotherapy. Histopathologic evaluation of the optic nerve showed only mature teratoma elements, but with pure germinoma cells infiltrating the inner layers of the retina. CONCLUSIONS: Loco-regional extension of suprasellar GCT to the optic nerve is not uncommon; however, to the best of our knowledge, infiltration of the tumor into the retina is not reported in the literature. Early detection of optic pathway involvement and proper delineation of the irradiation field may prevent GCT infiltration of the retina with subsequent vision loss.
ABSTRACT
Myoepithelial carcinomas (MC) represent aggressive tumors that occur in a myriad of ages and anatomic locations. The rarity and histologic similarity with other tumors make them difficult to diagnosis. We report an extremely rare case of a right ventricular outflow tract mass identified to be an intracardiac MC in a 4-month-old male infant. Pathology revealed an EWS-KLF15 translocation. Treatment included gross total resection and intensive chemotherapy. Recurrent cardiac mass with brain metastasis was seen 16 months after primary diagnosis. We describe the rarity of intracardiac MC in pediatric patients and the challenges encountered in the multimodal management of this patient.
Subject(s)
Heart Neoplasms/pathology , Myoepithelioma/pathology , Fatal Outcome , Heart Neoplasms/genetics , Heart Neoplasms/therapy , Humans , Infant , Kruppel-Like Transcription Factors/genetics , Male , Myoepithelioma/genetics , Myoepithelioma/therapy , Nuclear Proteins/genetics , Oncogene Fusion , RNA-Binding Protein EWS/geneticsABSTRACT
Editor's Note.-RadioGraphics continues to publish radiologic-pathologic case material selected from the American Institute for Radiologic Pathology (AIRP) "best case" presentations. The AIRP conducts a 4-week Radiologic Pathology Correlation Course, which is offered five times per year. On the penultimate day of the course, the best case presentation is held at the American Film Institute Silver Theater and Cultural Center in Silver Spring, Md. The AIRP faculty identifies the best cases, from each organ system, brought by the resident attendees. One or more of the best cases from each of the five courses are then solicited for publication in RadioGraphics. These cases emphasize the importance of radiologic-pathologic correlation in the imaging evaluation and diagnosis of diseases encountered at the institute and its predecessor, the Armed Forces Institute of Pathology (AFIP).
Subject(s)
Eye Neoplasms/diagnostic imaging , Eye Neoplasms/pathology , Magnetic Resonance Imaging/methods , Neuroectodermal Tumors, Primitive/diagnostic imaging , Neuroectodermal Tumors, Primitive/pathology , Child , Contrast Media , Diagnosis, Differential , Eye Neoplasms/surgery , Female , Humans , Neuroectodermal Tumors, Primitive/surgeryABSTRACT
Platelet clumping is a common laboratory phenomenon that complicates or precludes reporting of platelet count. It is often, but not always, a phenomenon commonly caused by the anticoagulant EDTA. Herein, we discuss a case of a 14-year-old girl who was found to have platelet clumping and discuss the work-up she underwent to investigate her pseudothrombocytopenia.
