Constitutional pericentric inversion 9 and hematological disorders: A Korean tertiary institution's experience over eight years

Sang Guk Lee, Tae Sung Park, Gayoung Lim, Kyung A. Lee, Jaewoo Song, Jong Rak Choi

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Constitutional pericentric inversion of chromosome 9 [inv(9)] occurs in 0.8 to 2% of the normal population and has long been considered a normal variant. It is controversial whether inv(9) is a predisposing factor for acute leukemia (AL). The effect of inv(9) on bone marrow (BM) recovery after stem cell transplantation or chemotherapy is undetermined. Between March 2001 and December 2008, the cytogenetics of 3,809 patients with suspected hematological diseases were reviewed. Of them, 586 patients were diagnosed with AL. Constitutional inv(9) was found in 55 patients with various hematological disorders, including AL and solid tumors. The proportion of inv(9) was similar in patients with AL (8/586, 1.37%) and those without (47/3223, 1.46%; p = 1.0). Of the eight patients with AL and inv(9), one refused treatment and seven had induction chemotherapy. Four of the seven patients achieved prompt hematological recovery, but the other three failed to achieve complete hematological remission. Thus constitutional inv(9) seems not to be related independently to delayed hematological recovery. One recipient of an allogeneic peripheral blood stem cell transplantation, from an unrelated donor with constitutional inv(9), also achieved prompt hematological reconstruction, further suggesting that constitutional inv(9) has no effect on hematopoietic cells. In summary, our data suggest that constitutional inv(9) is a truly random chromosomal aberration with no apparent functional effect on hematological disorders.

Original languageEnglish
Pages (from-to)273-277
Number of pages5
JournalAnnals of Clinical and Laboratory Science
Volume40
Issue number3
Publication statusPublished - 2010 Jun 1

Fingerprint

Chromosomes, Human, Pair 9
Chromosomes
Leukemia
Chemotherapy
Stem cells
Recovery
Peripheral Blood Stem Cell Transplantation
Unrelated Donors
Induction Chemotherapy
Hematologic Diseases
Stem Cell Transplantation
Aberrations
Cytogenetics
Chromosome Aberrations
Causality
Tumors
Bone
Blood
Bone Marrow
Drug Therapy

All Science Journal Classification (ASJC) codes

  • Microbiology
  • Immunology and Allergy
  • Pathology and Forensic Medicine
  • Immunology
  • Molecular Biology
  • Hematology
  • Clinical Biochemistry
  • Medical Laboratory Technology

Cite this

Lee, Sang Guk ; Park, Tae Sung ; Lim, Gayoung ; Lee, Kyung A. ; Song, Jaewoo ; Choi, Jong Rak. / Constitutional pericentric inversion 9 and hematological disorders : A Korean tertiary institution's experience over eight years. In: Annals of Clinical and Laboratory Science. 2010 ; Vol. 40, No. 3. pp. 273-277.
@article{b37f1e435a314122981dcb7a8aa75684,
title = "Constitutional pericentric inversion 9 and hematological disorders: A Korean tertiary institution's experience over eight years",
abstract = "Constitutional pericentric inversion of chromosome 9 [inv(9)] occurs in 0.8 to 2{\%} of the normal population and has long been considered a normal variant. It is controversial whether inv(9) is a predisposing factor for acute leukemia (AL). The effect of inv(9) on bone marrow (BM) recovery after stem cell transplantation or chemotherapy is undetermined. Between March 2001 and December 2008, the cytogenetics of 3,809 patients with suspected hematological diseases were reviewed. Of them, 586 patients were diagnosed with AL. Constitutional inv(9) was found in 55 patients with various hematological disorders, including AL and solid tumors. The proportion of inv(9) was similar in patients with AL (8/586, 1.37{\%}) and those without (47/3223, 1.46{\%}; p = 1.0). Of the eight patients with AL and inv(9), one refused treatment and seven had induction chemotherapy. Four of the seven patients achieved prompt hematological recovery, but the other three failed to achieve complete hematological remission. Thus constitutional inv(9) seems not to be related independently to delayed hematological recovery. One recipient of an allogeneic peripheral blood stem cell transplantation, from an unrelated donor with constitutional inv(9), also achieved prompt hematological reconstruction, further suggesting that constitutional inv(9) has no effect on hematopoietic cells. In summary, our data suggest that constitutional inv(9) is a truly random chromosomal aberration with no apparent functional effect on hematological disorders.",
author = "Lee, {Sang Guk} and Park, {Tae Sung} and Gayoung Lim and Lee, {Kyung A.} and Jaewoo Song and Choi, {Jong Rak}",
year = "2010",
month = "6",
day = "1",
language = "English",
volume = "40",
pages = "273--277",
journal = "Annals of Clinical and Laboratory Science",
issn = "0091-7370",
publisher = "Association of Clinical Scientists",
number = "3",

}

Constitutional pericentric inversion 9 and hematological disorders : A Korean tertiary institution's experience over eight years. / Lee, Sang Guk; Park, Tae Sung; Lim, Gayoung; Lee, Kyung A.; Song, Jaewoo; Choi, Jong Rak.

In: Annals of Clinical and Laboratory Science, Vol. 40, No. 3, 01.06.2010, p. 273-277.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Constitutional pericentric inversion 9 and hematological disorders

T2 - A Korean tertiary institution's experience over eight years

AU - Lee, Sang Guk

AU - Park, Tae Sung

AU - Lim, Gayoung

AU - Lee, Kyung A.

AU - Song, Jaewoo

AU - Choi, Jong Rak

PY - 2010/6/1

Y1 - 2010/6/1

N2 - Constitutional pericentric inversion of chromosome 9 [inv(9)] occurs in 0.8 to 2% of the normal population and has long been considered a normal variant. It is controversial whether inv(9) is a predisposing factor for acute leukemia (AL). The effect of inv(9) on bone marrow (BM) recovery after stem cell transplantation or chemotherapy is undetermined. Between March 2001 and December 2008, the cytogenetics of 3,809 patients with suspected hematological diseases were reviewed. Of them, 586 patients were diagnosed with AL. Constitutional inv(9) was found in 55 patients with various hematological disorders, including AL and solid tumors. The proportion of inv(9) was similar in patients with AL (8/586, 1.37%) and those without (47/3223, 1.46%; p = 1.0). Of the eight patients with AL and inv(9), one refused treatment and seven had induction chemotherapy. Four of the seven patients achieved prompt hematological recovery, but the other three failed to achieve complete hematological remission. Thus constitutional inv(9) seems not to be related independently to delayed hematological recovery. One recipient of an allogeneic peripheral blood stem cell transplantation, from an unrelated donor with constitutional inv(9), also achieved prompt hematological reconstruction, further suggesting that constitutional inv(9) has no effect on hematopoietic cells. In summary, our data suggest that constitutional inv(9) is a truly random chromosomal aberration with no apparent functional effect on hematological disorders.

AB - Constitutional pericentric inversion of chromosome 9 [inv(9)] occurs in 0.8 to 2% of the normal population and has long been considered a normal variant. It is controversial whether inv(9) is a predisposing factor for acute leukemia (AL). The effect of inv(9) on bone marrow (BM) recovery after stem cell transplantation or chemotherapy is undetermined. Between March 2001 and December 2008, the cytogenetics of 3,809 patients with suspected hematological diseases were reviewed. Of them, 586 patients were diagnosed with AL. Constitutional inv(9) was found in 55 patients with various hematological disorders, including AL and solid tumors. The proportion of inv(9) was similar in patients with AL (8/586, 1.37%) and those without (47/3223, 1.46%; p = 1.0). Of the eight patients with AL and inv(9), one refused treatment and seven had induction chemotherapy. Four of the seven patients achieved prompt hematological recovery, but the other three failed to achieve complete hematological remission. Thus constitutional inv(9) seems not to be related independently to delayed hematological recovery. One recipient of an allogeneic peripheral blood stem cell transplantation, from an unrelated donor with constitutional inv(9), also achieved prompt hematological reconstruction, further suggesting that constitutional inv(9) has no effect on hematopoietic cells. In summary, our data suggest that constitutional inv(9) is a truly random chromosomal aberration with no apparent functional effect on hematological disorders.

UR - http://www.scopus.com/inward/record.url?scp=77955821700&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77955821700&partnerID=8YFLogxK

M3 - Article

C2 - 20689141

AN - SCOPUS:77955821700

VL - 40

SP - 273

EP - 277

JO - Annals of Clinical and Laboratory Science

JF - Annals of Clinical and Laboratory Science

SN - 0091-7370

IS - 3

ER -