1.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
2.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
3.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
4.Constitutional Chromosome 21 Abnormality in B-ALL with iAMP21 in a Patient Developing Treatment-Related Myelodysplastic Syndrome
Inhwa KIM ; Su Hyun YOON ; Sunghan KANG ; Kyung-Nam KOH ; Mi Young KIM ; Young-Uk CHO ; Sang-Hyun HWANG ; Seongsoo JANG ; Eul-Ju SEO ; Beom Hee LEE ; Sunghee MIN ; Hyunwoo BAE ; Ho Joon IM ; Hyery KIM
Clinical Pediatric Hematology-Oncology 2025;32(1):23-28
The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.
5.Soft and Hard Tissue Augmentation with/without Polydeoxyribonucleotide for Horizontal Ridge Deficiency: A Pilot Study in a Dog Model
Hyunwoo LIM ; Yeek HERR ; Jong-Hyuk CHUNG ; Seung-Yun SHIN ; Seung-Il SHIN ; Ji-Youn HONG ; Hyun-Chang LIM
Journal of Korean Dental Science 2024;17(2):53-63
Purpose:
To investigate the effects of simultaneous soft and hard tissue augmentation and the addition of polydeoxyribonucleotide (PDRN) on regenerative outcomes.
Materials and Methods:
In five mongrel dogs, chronic ridge defects were established in both mandibles. Six implants were placed in the mandible, producing buccal dehiscence defects. The implants were randomly allocated to one of the following groups: 1) control: no treatment; 2) GBR: guided bone regeneration (GBR) only; 3) GBR/PDRN: GBR+PDRN application to bone substitute particles; 4) GBR/CTG: GBR+connective tissue grafting (CTG);5) GBR/VCMX: GBR+soft tissue augmentation using volume stable collagen matrix (VCMX); and 6) group GBR/VCMX/ PDRN: GBR+VCMX soaked with PDRN. The healing abutments were connected to the implants to provide additional room for tissue regeneration. Submerged healing was achieved. The animals were euthanized after four months. Histological and histomorphometric analyses were then performed.
Results:
Healing abutments were gradually exposed during the healing period. Histologically, minimal new bone formation was observed in the dehiscence defects. No specific differences were found between the groups regarding collagen fiber orientation and density in the augmented area. No traces of CTG or VCMX were detected. Histomorphometrically, the mean tissue thickness was greater in the control group than in the other groups above the implant shoulder (IS). Below the IS level, the CTG and PDRN groups exhibited more favorable tissue thickness than the other groups.
Conclusion
Failure of submerged healing after tissue augmentation deteriorated the tissue contour. PDRN appears to have a positive effect on soft tissues.
6.Alar crease as a donor site for the extension limb of modified nasolabial V-Y advancement flap
Yooseok HA ; Yunsung PARK ; Hyunwoo KYUNG ; Sang-Ha OH
Archives of Craniofacial Surgery 2023;24(6):260-265
Background:
The traditional nasolabial V-Y advancement flap is widely used for midface reconstruction, particularly for the lower third of the nose and upper lip, as its color and texture are similar to these areas. However, it provides insufficient tissue to cover large defects and cannot restore the nasal convexity, nasal ala, and adjacent tissues. The purpose of this study is to investigate the modified nasolabial V-Y advancement flap with extension limbs the along alar crease for the reconstruction of complex midface defects.
Methods:
A retrospective analysis of 18 patients, who underwent reconstruction with the modified nasolabial V-Y advancement flap, was performed between September 2014 and December 2022. An extension limb was added along the alar crease, adjacent to the defect area, and was hinged down as a transposition flap at the end of the advancement flap.
Results:
The extension limb along the alar crease successfully covered large and complicated defects, including those of the ala, the alar rim, the alar base, the nostrils, and the upper lip, with minor complications.
Conclusion
The alar crease is a good donor site for the reconstruction of large and complex nasal and upper lip defects.
7.Scar folding for the treatment of nostril stenosis after open rhinoplasty: a case report
Joo-Hak KIM ; Yunsung PARK ; Ho Jik YANG ; Sang-Ha OH ; Seung Han SONG ; Yooseok HA ; Sunje KIM ; Hyunwoo KYUNG
Archives of Aesthetic Plastic Surgery 2023;29(3):158-160
A 25-year-old woman was referred for discomfort when breathing through her left nose. The patient had undergone augmentation rhinoplasty 5 years ago, after which hypertrophic scarring occurred in the left nostril. Several corticosteroid injections were administered as the first line of treatment, but with no symptom improvement. Therefore, we proceeded with surgical scar removal, with the use of a nasal conformer. However, scarring in the left nostril recurred. Accordingly, we proceeded with further surgical treatment using the scar folding technique. After scar folding, neither scarring nor nostril stenosis recurred during 1 year of postoperative follow-up. To summarize, herein, we report a case of hypertrophic scarring in the nostril that was successfully treated with the scar folding technique.
8.Minimally invasive removal of facial foreign body granulomas
Jaeik CHOI ; Geonil KO ; Hyeokjae KWON ; Yooseok HA ; Sunje KIM ; Hyunwoo KYUNG ; Sang-Ha OH ; Seung Han SONG
Archives of Aesthetic Plastic Surgery 2022;28(1):24-30
Background:
Various materials, commonly called fillers, have been developed and are now used for cosmetic and reconstruction purposes. Indiscriminate injections of illegal and unknown substances have various side effects, among which foreign body granulomas are particularly difficult to treat. Surgical resection can be considered for small and well-defined foreign body granulomas, but complete resection is often impossible for wide facial granulomas, and postoperative deformities may occur. Therefore, this study presents cases where foreign bodies were evaluated using imaging studies and removed through minimally invasive procedures depending on their characteristics.
Methods:
Thirty-five patients with chronic granulomas after illegal filler injections treated from 2012 to 2019 were enrolled. Clinically, these granulomas were classified into cystic and infiltrating groups according to the imaging study patterns. Patients in the cystic group underwent puncture and drainage, and those in the infiltrating group were first treated with intralesional laser treatment and then suctioned. If the results were insufficient, surgical removal combined with a lifting procedure was performed.
Results:
All 35 patients were women, and their average age was 51 years. Surgery was successful in almost all cases, but four cases of insufficient removal and contour deformity were encountered during follow-up. Two patients underwent reoperation and two patients improved naturally.
Conclusions
In this study, we classified the characteristics of granulomas using preoperative imaging studies. Aesthetically favorable results were obtained using puncture and drainage and tumescent suction, along with, if necessary, surgical removal accompanied by a lifting procedure when removing facial foreign body granulomas.
9.Multicentric Breast Cancer of the Axillary and Pectoral Breasts:A Case Report and Literature Review
Harim KIM ; Eun Young KO ; Boo-Kyung HAN ; Ji-Yeon KIM ; Byung Joo CHAE ; Hyunwoo LEE
Journal of Breast Cancer 2022;25(5):436-442
Multicentric cancer of the pectoral and ectopic breasts is extremely rare, and diagnosing this malignancy remains challenging because axillary breast cancer is easily misdiagnosed as lymph node metastasis. Moreover, there are no established treatment guidelines for this disease. We present our experience with a multicentric breast cancer patient who showed different responses to neoadjuvant chemotherapy (NAC) and underwent surgical treatments that differed from those in previous studies. In our case, the preoperative imaging of both lesions and subsequent core needle biopsy of each lesion were crucial, as these procedures confirm the diagnosis and help decide the chemotherapy regimen based on the subtype.After NAC, the patient underwent right breast-conserving surgery, sentinel lymph node biopsy (SLNB), and excision of accessory breast tissue in the right axilla. SLNB should be the initial step in staging multicentric breast cancer, unless imaging scan shows evidence of lymph node metastasis.
10.Evaluation of Genetic Diversity and Population Structure Analysis among Germplasm of Agaricus bisporus by SSR Markers
Hyejin AN ; Hwa-Yong LEE ; Hyeran SHIN ; Jun Hyoung BANG ; Seahee HAN ; Youn-Lee OH ; Kab-Yeul JANG ; Hyunwoo CHO ; Tae Kyung HYUN ; Jwakyung SUNG ; Yoon-Sup SO ; Ick-Hyun JO ; Jong-Wook CHUNG
Mycobiology 2021;49(4):376-384
Agaricus bisporus is a popular edible mushroom that is cultivated worldwide. Due to its secondary homothallic nature, cultivated A. bisporus strains have low genetic diversity, and breeding novel strains is challenging. The aim of this study was to investigate the genetic diversity and population structure of globally collected A. bisporus strains using simple sequence repeat (SSR) markers. Agaricus bisporus strains were divided based on genetic distance-based groups and model-based subpopulations. The major allele frequency (MAF), number of genotypes (NG), number of alleles (NA), observed heterozygosity (HO), expected heterozygosity (HE), and polymorphic information content (PIC) were calculated, and genetic distance, population structure, genetic differentiation, and Hardy–Weinberg equilibrium (HWE) were assessed. Strains were divided into two groups by distance-based analysis and into three subpopulations by model-based analysis. Strains in subpopulations POP A and POP B were included in Group I, and strains in subpopulation POP C were included in Group II. Genetic differentiation between strains was 99%. Marker AB-gSSR-1057 in Group II and subpopulation POP C was confirmed to be in HWE. These results will enhance A. bisporus breeding programs and support the protection of genetic resources.

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