Dataset Information

PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the literature.

ABSTRACT: BACKGROUND:B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is characterized by recurrent genetic alterations including chromosomal translocations. The transcription factor PAX5, which is pivotal for B-cell commitment and maintenance, is affected by rearrangements, which lead to the expression of in-frame fusion genes in about 2.5% of the cases. RESULTS:Using conventional cytogenetics, fluorescence in situ hybridization (FISH), and molecular methods, an additional case with a der(9)t(7;9)(q11.23;p13) resulting in the expression of a PAX5-ELN fusion gene was identified. Furthermore, a general review of leukemia harboring a t(7;9)(q11.2;p13) or der(9)t(7;9)(q11.2;p13), which occurs more often in children than in adults and shows a remarkably high male preponderance, is given. These cytogenetically highly similar translocations lead to the expression of one of three different in frame PAX5-fusions, namely with AUTS2 (7q11.22), ELN (7q11.23), or POM121 (7q11.23), which constitute the only currently known cluster of PAX5 partner genes. CONCLUSION:Our report underlines the recurrent involvement of PAX5 in different fusion genes resulting either from t(7;9)(q11.2;p13) or der(9)t(7;9)(q11.2;p13), which cannot be distinguished cytogenetically and whose discrimination requires molecular analysis.

SUBMITTER: Denk D

PROVIDER: S-EPMC3937052 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature

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PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the literature.

Denk Dagmar D Bradtke Jutta J König Margit M Strehl Sabine S

Molecular cytogenetics 20140207 1

<h4>Background</h4>B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is characterized by recurrent genetic alterations including chromosomal translocations. The transcription factor PAX5, which is pivotal for B-cell commitment and maintenance, is affected by rearrangements, which lead to the expression of in-frame fusion genes in about 2.5% of the cases.<h4>Results</h4>Using conventional cytogenetics, fluorescence in situ hybridization (FISH), and molecular methods, an additional case with ...[more]

PMID: 24507461

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Project description:BackgroundSplenogondal fusion (SGF) is a rare congenital anomaly characterized by abnormal association between the splenic tissue and the gonads or mesonephric remnants. SGF that requires separate two-stage laparoscopic staged Fowler-Stephen orchiopexy on both the left and right sides is extremely rare. SGF could be misdiagnosed as testicular malignancy and leads to unnecessary orchiectomy.Case presentationThis is a case of an 8-month old male infant presented with bilateral cryptorchidism, B-mode ultrasound visualized the left and right testes in the lower abdominal cavity and the upper margin of the left testicle as a hypoechoic mass extending to the spleen, indicating an undescended right testis and possible SGF on the left side. Single-site laparoscopic examination confirmed the diagnosis of SGF on the left side and an undescended right testis. As both testes were high and the right spermatic vessel was poorly developed and short, a routine single stage orchiopexy would be difficult and risky, therefore, separate two-stage laparoscopic staged Fowler-Stephen orchiopexies for both sides were implemented. Stage 1 of the staged Fowler-Stephen orchiopexy for the right side was performed first without treating the left side, Stage 2 for the right side, separation of the left testis from the spleen as well as Stage 1 for the left side were performed 7 months later, and Stage 2 for the left side was performed 7 months after that. Follow-up ultrasound 1 year after the surgery revealed no obvious abnormalities in the shapes of the testes or their blood supply. This treatment strategy prevented unnecessary orchiectomy.ConclusionsWe reported a rare case of SGF that needed separate two-stage laparoscopic staged Fowler-Stephen orchiopexies for both sides, and a review of the recent literature. SGF is a rare congenital anomaly often diagnosed incidentally during exploration/surgery for scrotal swelling/mass, cryptorchidism or inguinal hernia in young patients. Surgeons, especially pediatric surgeons should be aware of this rare condition to avoid unnecessary, life-altering radical orchiectomy. When routine single stage orchiopexy is not feasible or risky for either side, separate two-stage laparoscopic staged Fowler-Stephen orchiopexies could be performed on both the left and right sides to avoid unnecessary orchiectomy.

Dataset Information

PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the literature.

Publications

PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the literature.

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