Kyung Ran Jun

Submicroscopic Deletion of FGFR1 Gene Is Recurrently Detected in Myeloid and Lymphoid Neoplasms Associated with ZMYM2-FGFR1 Rearrangements: A Case Study

a Department of Laboratory Medicine, School of Medicine, Kyung Hee University, b Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul , Departments of c Laboratory Medicine and d Pathology, Inje University College of Medicine, Busan , and e School of Life Science and Biotechnology, Kyungpook National University, Daegu , Republic of Korea; f Institute of Pharmaceutical Biology, ZAFES, Diagnostic Center of Acute Leukemia, Goethe University of Frankfurt, Frankfurt/Main , Germany

Serial changes in serum procalcitonin, interleukin 6, and C-reactive protein levels according to non-specific surgical stimulation.

Abstract Background: The aim of this study is to investigate useful perioperative monitoring markers by comparing serial levels of serum procalcitonin (PCT), interleukin 6 (IL-6), and C-reactive protein (CRP) in routine surgical circumstances. Methods: In 285 surgeries of 277 patients, blood samples were obtained serially, at least three times per patient: within 48 h before surgery, 0–6 h after surgery (post-OP1), >6–28 h after surgery (post-OP2), and/or later (post-OP3). PCT, IL-6, and CRP were measured. Their demographic, operative, laboratory, and clinical data were collected retrospectively. Results: The systemic inflammatory response syndrome (SIRS) (n=39) and sepsis (n=11) groups showed higher post-operative values than the non-SIRS group (n=233). Their maximum significant median levels were 8.96 vs. 0.21 μg/L for post-OP2 PCT, 743.1 vs. 85.8 ng/L for post-OP1 IL-6, and 103.4 vs. 49.0 mg/L for post-OP2 CRP. Among non-SIRS patients, 12 patients developed undesirable post-operative events, including secondary surgery and death. The highest area under receiver operator characteristic curves was 0.92 at post-OP1 PCT (cut-off, 0.1 μg/L; sensitivity, 91.7%; specificity, 78.7%), and the next highest was 0.84 at post-OP1 IL-6 (cut-off, 359 ng/L; sensitivity, 66.7%; specificity, 91.9%). All biomarkers were increased by non-specific surgical stimuli; however, post-OP1/post-OP2 PCT were <1.0 μg/L (90th percentile) except major abdominal surgeries. Conclusions: Post-OP1 PCT measurement may be useful as a post-operative monitoring marker for the following reasons: pre-operative values less than the cut-off regardless of pre-operative state (age, malignancy, and American Society of Anesthesiologists class); minimal influence from surgical stimulus; and prediction of post-operative undesirable events.

Mowat–Wilson syndrome detected by using high resolution microarray

Individuals with Mowat-Wilson syndrome (MWS; OMIM#235730) have characteristic facial features, a variety of congenital anomalies such as Hirschsprung disease, and intellectual disabilities caused by mutation or deletion of ZEB2 gene. This deletion or cytogenetic abnormality has been reported primarily from Europe, Australia and the United States, but not in Korea. Here we report a patient with characteristic facial features of MWS, developmental delay and spasticity. High resolution microarray analysis revealed 0.9 Mb deletion of 2q22.3 involving two genes: ZEB2 and GTDC1. This case shows the important role of high resolution microarray in patients with unexplained psychomotor retardation and/or facial dysmorphism. Knowledge about the most striking clinical signs and implementation of effective molecular tests like microarray could significantly increase the detection rate of new cases of MWS in Korea. This is the first reported case of MWS in Korea.

Clinical characterization of DISP1 haploinsufficiency: A case report.

Chromosome 1q41q42 microdeletions have been classified as a syndrome consisting of significant developmental delay, seizures, and characteristic dysmorphic features. They harbor different breakpoints and their smallest region of overlap at 1q41q42 involves several genes, including DISP1. Deletion or variants of DISP1 have been proposed as a candidate for the midline defects in this syndrome but may not be responsible for its major features in some cases. We report here a patient with a 183-kb deletion in chromosome 1q41, representing the smallest deletion identified among cases of the 1q41q42 microdeletion syndrome. The involved genes are DISP1 and TLR5. This patient developed seizures and developmental delay but showed no facial dysmorphism or organ defects. This deleted region was inherited from a phenotypically normal parent. This case may help define the role of the DISP1 haploinsufficiency in phenotype and support the suggestion that DISP1 mutation or deletion may reveal incomplete penetrance.

Acute myeloid leukemia associated with t(10;17)(p13-15;q12-21) and phagocytic activity by leukemic blasts: a clinical study and review of the literature

Translocation (10;17)(p13-15;q12-21) in acute leukemia is rarely reported in the literature. Here, we present both a novel t(10;17) case study and a review of relevant literature on t(10;17) in acute leukemia (10 cases). In summary, we came to the following preliminary conclusions: t(10;17) is associated with poorly differentiated acute leukemia subtype [90%; eight cases of acute myeloid leukemia (AML M0, M1) and one case of acute undifferentiated leukemia], phagocytic activity by blasts occurs (30%), and the survival time was short in three of the seven t(10;17) cases for whom follow-up data were available (median, 8 months). More clinical studies concerning the prognosis, treatment response, and survival of patients with t(10;17) are necessary.

Favorable outcome in a child with EBV-negative aggressive NK cell leukemia

Aggressive natural killer cell leukemia (ANKL) is a rare malignant disorder of mature NK cells frequently associated with Epstein–Barr virus (EBV). This malignancy is typically treated with intensive remission induction chemotherapy followed by allogeneic hematopoietic stem cell transplantation (HSCT). EBV-negative ANKL and childhood ANKL, however, are not well defined and the optimal therapeutic strategy in these cases is poorly understood. Here, we present a unique pediatric EBV-negative ANKL patient who achieved a successful treatment outcome after intensified ALL type chemotherapy without allogeneic HSCT.

Postsurgical Wound Infection Caused by Mycobacterium conceptionense Identified by Sequencing of 16S rRNA, hsp65, and rpoB Genes in an Immunocompetent Patient

Postsurgical Wound Infection Caused by Mycobacterium conceptionense Identified by Sequencing of 16S rRNA, hsp65, and rpoB Genes in an Immunocompetent Patient Ja Young Lee*, Si Hyun Kim*, Jeong Hwan Shin, Hyun-Kyung Lee, Young Min Lee, Sae Am Song, Il Kwon Bae, Chang-Ki Kim, Kyung Ran Jun, Hye Ran Kim, Jeong Nyeo Lee, Chulhun L. Chang Department of Laboratory Medicine, Paik Institute for Clinical Research, and Department of Internal Medicine, Inje University College of Medicine, Department of Dental Hygiene College of Medical and Life Science, Shilla University, Busan, Department of Laboratory Medicine, Korean Institute for Tuberculosis, Osong, Department of Laboratory Medicine, Pusan National University School of Medicine, Yangsan, Korea

A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD; MIM #300100) is a neurodegenerative disorder caused by mutations in the ABCD1 adrenoleukodystrophy protein gene. The ABCD1 gene mutations have been reported by laboratories in China and Japan, but not in Korea. This case report describes a Korean boy diagnosed with X-ALD. Direct sequencing for the ABCD1 gene in this boy and his mother detected Tyr620His missense mutation, caused by cDNA nucleotide change 1858 T>C in exon 8 (c.1858T>C). This missense variant was novel and predicted to be possibly damaging by the PolyPhen and SIFT prediction software. Moreover, this is the first report in Korean.

Three-way translocation of MLL/MLLT3, t(1;9;11)(p34.2;p22;q23), in a pediatric case of acute myeloid leukemia.

The chromosome band 11q23 is a common target region of chromosomal translocation in different types of leukemia, including infantile leukemia and therapy-related leukemia. The target gene at 11q23, MLL, is disrupted by the translocation and becomes fused to various translocation partners. We report a case of AML with a rare 3-way translocation involving chromosomes 1, 9, and 11: t(1;9;11)(p34.2;p22;q23). A 3-yr-old Korean girl presented with a 5-day history of fever. A diagnosis of AML was made on the basis of the morphological evaluation and immunophenotyping of bone marrow specimens. Flow cytometric immunophenotyping showed blasts positive for myeloid lineage markers and aberrant CD19 expression. Karyotypic analysis showed 46,XX,t(1;9;11)(p34.2;p22;q23) in 19 of the 20 cells analyzed. This abnormality was involved in MLL/MLLT3 rearrangement, which was confirmed by qualitative multiplex reverse transcription-PCR and interphase FISH. She achieved morphological and cytogenetic remission after 1 month of chemotherapy and remained event-free for 6 months. Four cases of t(1;9;11)(v;p22;q23) have been reported previously in a series that included cases with other 11q23 abnormalities, making it difficult to determine the distinctive clinical features associated with this abnormality. To our knowledge, this is the first description of t(1;9;11) with clinical and laboratory data, including the data for the involved genes, MLL/MLLT3.

Extranodal Natural Killer/T-Cell Lymphoma of the Small Intestine Associated With Reactive Hemophagocytic Syndrome: Case Report and Literature Review

Primary extranodal natural killer (NK)/T-cell lymphoma (NTCL) of the gastrointestinal tract is extremely rare. It has an aggressive clinical course with a high mortality rate; early diagnosis is usually difficult because patients show nonspecific symptoms. We describe a case of primary NTCL of the small intestine in a 45-year-old ethnic Korean woman who has clinical features similar to those of inflammatory bowel disease (IBD). Laparotomy revealed a perforated jejunum and numerous masses in the mesentery. NTCL was diagnosed by a pathologist based on the results of immunohistochemical staining and the detection of Epstein-Barr virus–encoded messenger RNA (mRNA) via in situ hybridization. On examination, a bone marrow sample showed diffuse histiocytic proliferation with hemophagocytosis. Although the patient received dose-intense chemotherapy and supportive treatment, she died 21 days after her diagnosis. Herein, we report a rare case of primary NTCL of the small intestine with reactive hemophagocytic syndrome and review the literature on this rare disease.