Gene rearrangements involving the histone lysine methyltransferase 2A gene (KMT2A) are identified in 4-7% of childhood acute lymphoblastic leukaemias (ALL). 1 The rearrangement is associated with a poor prognosis, presentation in infancy and lymphoblasts lacking CD10 with expression of myeloid markers. 2-4 KMT2A fusions are promiscuous with 135 different transfusion partner genes (TPGs) reported. 1 The vast majority fuse the 5 0 end of KMT2A in-frame to a TPG at the 3 0 end. 1 However, reciprocal translocations (TPG-KMT2A) are also found either in association with KMT2A-TPG fusions or rarely, in some instances, by themselves without a corresponding KMT2A-TPG fusion. 1 Here, we describe an isolated ATP5L-KMT2A reciprocal fusion in a 15-month-old male with B lymphoblastic leukaemia/lymphoma (B-ALL). The University Hospitals Cleveland Medical Center/Case Western Reserve University's Institutional Review Board granted approval for the study under number #02-14-36. The patient presented at 14 months in Kuwait with refusal to walk, malaise and fevers. A complete blood count demonstrated: white blood cells 22Á4 9 10 9 /l, haemoglobin 75 g/l, platelets 24 9 10 9 /l. A bone marrow work-up revealed 91Á5% blasts. Phenotypically, the cells were CD10 À , CD19 + , CD20 À , CD34 + , CD45 dim , TdT + (partial) and MPOconsistent with BALL. Genetic studies showed a normal karyotype and fluorescent in situ hybridization (FISH) was negative for t(12;21) (p13;q22), t(9;22)(q34;q11), t(1;19)(q23;p13Á3) and KMT2A (11q23) rearrangements. The patient was classified as standard risk BALL and received three-drug induction therapy per UK-MRC-ALL 2011. On day 15 of induction, persistent blasts (66%) were present and treatment was intensified to include anthracyclines and an additional dose of PEG asparaginase. He was transferred to our institution after completing induction therapy. Persistent disease was noted upon arrival at our institution with 48% marrow blasts with a phenotype as previously reported (Fig 1A, B). Repeat FISH for KMT2A rearrangement was negative with two yellow signals suggesting two intact copes of the KMT2A gene (Fig 1C). To further evaluate for a molecular aberration, cells were assessed for novel gene fusions using a NeoGenomics (Fort Myers, FL, USA) ALL fusion profile which identified an ATP5L-KMT2A fusion (Fig 2), discussed below. He received consolidation therapy for very high-risk BALL patients per COG AALL1131 followed by two cycles of blinatumomab. Subsequently he underwent a matched, unrelated umbilical cord transplant and presently is seven months post-transplant and disease-free. ized to exons 9-11 of the KMT2A gene 1. Only 6Á5% of KMT2A fusions occur with breakpoints outside of this Correspondence
Glioblastoma is an aggressive primary central nervous system tumor with a dismal prognosis. However, extracranial metastases are extremely rare. Very few cases have been reported in the literature. We present a case of a 64‐year‐old male with glioblastoma metastatic to a cervical lymph node in which the diagnosis was made on fine needle aspiration cytology (FNAC). The cytomorphologic features of glioblastoma are distinct, with pleomorphic cells in loosely cohesive clusters with prominent nucleoli, coarsely clumped chromatin and cellular processes. We suggest that FNAC, along with clinical history, is a cost effective, safe, and diagnostically accurate method of diagnosing glioblastoma metastases. Cell block is also helpful in establishing the diagnosis.
Cytomegalovirus (CMV) infection is one of the most common congenital viral infections. Classically associated placental findings include chronic villitis with plasma cells, stromal hemosiderin deposition, and identification of viral inclusions in villous endothelial and stromal cells. We present a case of confirmed congenital CMV infection that lacked these classical findings, but demonstrated massive perivillous fibrin deposition (MPVFD). This is the first report of CMV associated with MPVFD. MPVFD is an uncommon placental lesion associated with adverse fetal outcomes and a high risk of recurrence. However, the recurrence risk in patients with an infectious cause may be lower in than patients with other associated clinical conditions.
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