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.Factors Associated with Postoperative Recurrence in Stage I to IIIA Non–Small Cell Lung Cancer with Epidermal Growth Factor Receptor Mutation: Analysis of Korean National Population Data
Kyu Yean KIM ; Ho Cheol KIM ; Tae Jung KIM ; Hong Kwan KIM ; Mi Hyung MOON ; Kyongmin Sarah BECK ; Yang Gun SUH ; Chang Hoon SONG ; Jin Seok AHN ; Jeong Eun LEE ; Jae Hyun JEON ; Chi Young JUNG ; Jeong Su CHO ; Yoo Duk CHOI ; Seung Sik HWANG ; Chang Min CHOI ; Seung Hun JANG ; Jeong Uk LIM ;
Cancer Research and Treatment 2025;57(1):83-94
Purpose:
Recent development in perioperative treatment of resectable non–small cell lung cancer (NSCLC) have changed the landscape of early lung cancer management. The ADAURA trial has demonstrated the efficacy of adjuvant osimertinib treatment in resectable NSCLC patients; however, studies are required to show which subgroup of patients are at a high risk of relapse and require adjuvant epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor treatment. This study evaluated risk factors for postoperative relapse among patients who underwent complete resection.
Materials and Methods:
Data were obtained from the Korean Association for Lung Cancer Registry (KALC-R), a database created using a retrospective sampling survey by the Korean Central Cancer Registry (KCCR) and the Lung Cancer Registration Committee.
Results:
A total of 3,176 patients who underwent curative resection was evaluated. The mean observation time was approximately 35.4 months. Among stage I to IIIA NSCLC patients, the EGFR-mutant subgroup included 867 patients, and 75.2%, 11.2%, and 11.8% were classified as stage I, stage II, and stage III, respectively. Within the EGFR-mutant subgroup, 44 (5.1%) and 121 (14.0%) patients showed early and late recurrence, respectively. Multivariate analysis on association with postoperative relapse among the EGFR-mutant subgroup showed that age, pathologic N and TNM stages, pleural invasion status, and surgery type were independent significant factors.
Conclusion
Among the population that underwent complete resection for early NSCLC with EGFR mutation, patients with advanced stage, pleural invasion, or limited resection are more likely to show postoperative relapse.
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.Factors Associated with Postoperative Recurrence in Stage I to IIIA Non–Small Cell Lung Cancer with Epidermal Growth Factor Receptor Mutation: Analysis of Korean National Population Data
Kyu Yean KIM ; Ho Cheol KIM ; Tae Jung KIM ; Hong Kwan KIM ; Mi Hyung MOON ; Kyongmin Sarah BECK ; Yang Gun SUH ; Chang Hoon SONG ; Jin Seok AHN ; Jeong Eun LEE ; Jae Hyun JEON ; Chi Young JUNG ; Jeong Su CHO ; Yoo Duk CHOI ; Seung Sik HWANG ; Chang Min CHOI ; Seung Hun JANG ; Jeong Uk LIM ;
Cancer Research and Treatment 2025;57(1):83-94
Purpose:
Recent development in perioperative treatment of resectable non–small cell lung cancer (NSCLC) have changed the landscape of early lung cancer management. The ADAURA trial has demonstrated the efficacy of adjuvant osimertinib treatment in resectable NSCLC patients; however, studies are required to show which subgroup of patients are at a high risk of relapse and require adjuvant epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor treatment. This study evaluated risk factors for postoperative relapse among patients who underwent complete resection.
Materials and Methods:
Data were obtained from the Korean Association for Lung Cancer Registry (KALC-R), a database created using a retrospective sampling survey by the Korean Central Cancer Registry (KCCR) and the Lung Cancer Registration Committee.
Results:
A total of 3,176 patients who underwent curative resection was evaluated. The mean observation time was approximately 35.4 months. Among stage I to IIIA NSCLC patients, the EGFR-mutant subgroup included 867 patients, and 75.2%, 11.2%, and 11.8% were classified as stage I, stage II, and stage III, respectively. Within the EGFR-mutant subgroup, 44 (5.1%) and 121 (14.0%) patients showed early and late recurrence, respectively. Multivariate analysis on association with postoperative relapse among the EGFR-mutant subgroup showed that age, pathologic N and TNM stages, pleural invasion status, and surgery type were independent significant factors.
Conclusion
Among the population that underwent complete resection for early NSCLC with EGFR mutation, patients with advanced stage, pleural invasion, or limited resection are more likely to show postoperative relapse.
5.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.
6.Factors Associated with Postoperative Recurrence in Stage I to IIIA Non–Small Cell Lung Cancer with Epidermal Growth Factor Receptor Mutation: Analysis of Korean National Population Data
Kyu Yean KIM ; Ho Cheol KIM ; Tae Jung KIM ; Hong Kwan KIM ; Mi Hyung MOON ; Kyongmin Sarah BECK ; Yang Gun SUH ; Chang Hoon SONG ; Jin Seok AHN ; Jeong Eun LEE ; Jae Hyun JEON ; Chi Young JUNG ; Jeong Su CHO ; Yoo Duk CHOI ; Seung Sik HWANG ; Chang Min CHOI ; Seung Hun JANG ; Jeong Uk LIM ;
Cancer Research and Treatment 2025;57(1):83-94
Purpose:
Recent development in perioperative treatment of resectable non–small cell lung cancer (NSCLC) have changed the landscape of early lung cancer management. The ADAURA trial has demonstrated the efficacy of adjuvant osimertinib treatment in resectable NSCLC patients; however, studies are required to show which subgroup of patients are at a high risk of relapse and require adjuvant epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor treatment. This study evaluated risk factors for postoperative relapse among patients who underwent complete resection.
Materials and Methods:
Data were obtained from the Korean Association for Lung Cancer Registry (KALC-R), a database created using a retrospective sampling survey by the Korean Central Cancer Registry (KCCR) and the Lung Cancer Registration Committee.
Results:
A total of 3,176 patients who underwent curative resection was evaluated. The mean observation time was approximately 35.4 months. Among stage I to IIIA NSCLC patients, the EGFR-mutant subgroup included 867 patients, and 75.2%, 11.2%, and 11.8% were classified as stage I, stage II, and stage III, respectively. Within the EGFR-mutant subgroup, 44 (5.1%) and 121 (14.0%) patients showed early and late recurrence, respectively. Multivariate analysis on association with postoperative relapse among the EGFR-mutant subgroup showed that age, pathologic N and TNM stages, pleural invasion status, and surgery type were independent significant factors.
Conclusion
Among the population that underwent complete resection for early NSCLC with EGFR mutation, patients with advanced stage, pleural invasion, or limited resection are more likely to show postoperative relapse.
7.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.
8.Application of Transverse Process Hooks at Distal Thoracic Vertebrae in Uppermost Vertebral Instrumentation for Adult Spinal Deformity Surgery: Special Focus on Delayed-Onset Neurologic Deficits
Sun-Joon YOO ; Hyun-Jun JANG ; Bong Ju MOON ; Jeong-Yoon PARK ; Sung Uk KUH ; Dong-Kyu CHIN ; Keun-Su KIM ; Jun Jae SHIN ; Yoon HA ; Kyung-Hyun KIM
Neurospine 2024;21(4):1219-1229
Objective:
We aimed to investigate the incidence of delayed-onset neurological deficits (DONDs), DOND-related reoperation rates following adult spinal deformity (ASD) surgery, and efficacy of transverse process hooks (TPHs) at the uppermost instrumented vertebra (UIV) compared to pedicle screws (PSs).
Methods:
We included 90 consecutive patients who underwent instrumented fusion from the sacrum to the distal thoracic spine for ASD, with a minimum follow-up of 24 months. Clinical and radiological outcomes were compared between 33 patients in the TPH group and 57 patients in the PS group, using the Scoliosis Research Society-22 Outcomes questionnaire (SRS-22), Medical Outcomes Study Questionnaire Short-Form 36 (SF-36), and various spinal sagittal parameters.
Results:
While absent in the TPH group, myelopathy occurred in 15.8% of the PS group, wherein 15 patients underwent reoperation. The change in the proximal junctional angle, from the pre- to postoperative assessment, was lower in the TPH group than in the PS group (0.2 vs. 6.6, p=0.002). Postoperative facet degeneration in the PS group progressed more significantly than in the TPH group (0.5 vs. 0.1, p=0.002). Surgical outcomes were comparable for both groups, except for the back visual analogue scale (3.5 vs. 4.1, p=0.010) and SRS-22 domains, including pain and satisfaction (3.3 vs. 2.9, p=0.033; 3.7 vs. 3.3, p=0.041). No intergroup difference was observed in SF-36.
Conclusion
Using TPHs at the UIV level can prevent DOND, and thereby prevent postoperative myelopathy that necessitates reoperation; thus, TPHs is preferable over PSs in ASD surgery.
9.Application of Transverse Process Hooks at Distal Thoracic Vertebrae in Uppermost Vertebral Instrumentation for Adult Spinal Deformity Surgery: Special Focus on Delayed-Onset Neurologic Deficits
Sun-Joon YOO ; Hyun-Jun JANG ; Bong Ju MOON ; Jeong-Yoon PARK ; Sung Uk KUH ; Dong-Kyu CHIN ; Keun-Su KIM ; Jun Jae SHIN ; Yoon HA ; Kyung-Hyun KIM
Neurospine 2024;21(4):1219-1229
Objective:
We aimed to investigate the incidence of delayed-onset neurological deficits (DONDs), DOND-related reoperation rates following adult spinal deformity (ASD) surgery, and efficacy of transverse process hooks (TPHs) at the uppermost instrumented vertebra (UIV) compared to pedicle screws (PSs).
Methods:
We included 90 consecutive patients who underwent instrumented fusion from the sacrum to the distal thoracic spine for ASD, with a minimum follow-up of 24 months. Clinical and radiological outcomes were compared between 33 patients in the TPH group and 57 patients in the PS group, using the Scoliosis Research Society-22 Outcomes questionnaire (SRS-22), Medical Outcomes Study Questionnaire Short-Form 36 (SF-36), and various spinal sagittal parameters.
Results:
While absent in the TPH group, myelopathy occurred in 15.8% of the PS group, wherein 15 patients underwent reoperation. The change in the proximal junctional angle, from the pre- to postoperative assessment, was lower in the TPH group than in the PS group (0.2 vs. 6.6, p=0.002). Postoperative facet degeneration in the PS group progressed more significantly than in the TPH group (0.5 vs. 0.1, p=0.002). Surgical outcomes were comparable for both groups, except for the back visual analogue scale (3.5 vs. 4.1, p=0.010) and SRS-22 domains, including pain and satisfaction (3.3 vs. 2.9, p=0.033; 3.7 vs. 3.3, p=0.041). No intergroup difference was observed in SF-36.
Conclusion
Using TPHs at the UIV level can prevent DOND, and thereby prevent postoperative myelopathy that necessitates reoperation; thus, TPHs is preferable over PSs in ASD surgery.
10.Application of Transverse Process Hooks at Distal Thoracic Vertebrae in Uppermost Vertebral Instrumentation for Adult Spinal Deformity Surgery: Special Focus on Delayed-Onset Neurologic Deficits
Sun-Joon YOO ; Hyun-Jun JANG ; Bong Ju MOON ; Jeong-Yoon PARK ; Sung Uk KUH ; Dong-Kyu CHIN ; Keun-Su KIM ; Jun Jae SHIN ; Yoon HA ; Kyung-Hyun KIM
Neurospine 2024;21(4):1219-1229
Objective:
We aimed to investigate the incidence of delayed-onset neurological deficits (DONDs), DOND-related reoperation rates following adult spinal deformity (ASD) surgery, and efficacy of transverse process hooks (TPHs) at the uppermost instrumented vertebra (UIV) compared to pedicle screws (PSs).
Methods:
We included 90 consecutive patients who underwent instrumented fusion from the sacrum to the distal thoracic spine for ASD, with a minimum follow-up of 24 months. Clinical and radiological outcomes were compared between 33 patients in the TPH group and 57 patients in the PS group, using the Scoliosis Research Society-22 Outcomes questionnaire (SRS-22), Medical Outcomes Study Questionnaire Short-Form 36 (SF-36), and various spinal sagittal parameters.
Results:
While absent in the TPH group, myelopathy occurred in 15.8% of the PS group, wherein 15 patients underwent reoperation. The change in the proximal junctional angle, from the pre- to postoperative assessment, was lower in the TPH group than in the PS group (0.2 vs. 6.6, p=0.002). Postoperative facet degeneration in the PS group progressed more significantly than in the TPH group (0.5 vs. 0.1, p=0.002). Surgical outcomes were comparable for both groups, except for the back visual analogue scale (3.5 vs. 4.1, p=0.010) and SRS-22 domains, including pain and satisfaction (3.3 vs. 2.9, p=0.033; 3.7 vs. 3.3, p=0.041). No intergroup difference was observed in SF-36.
Conclusion
Using TPHs at the UIV level can prevent DOND, and thereby prevent postoperative myelopathy that necessitates reoperation; thus, TPHs is preferable over PSs in ASD surgery.

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