July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Novel characterization of orbital precursor B-cell Lymphoblastic Lymphoma
Author Affiliations & Notes
  • Rasmus Ejstrup
    Ophthalmology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
  • Lauge Hjorth Mikkelsen
    Ophthalmology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
    Pathology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
  • Mette Klarskov Andersen
    Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
  • Steffen Heegaard
    Ophthalmology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
    Pathology, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
  • Footnotes
    Commercial Relationships   Rasmus Ejstrup, None; Lauge Mikkelsen, None; Mette Klarskov Andersen, None; Steffen Heegaard, None
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 5584. doi:https://doi.org/
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      Rasmus Ejstrup, Lauge Hjorth Mikkelsen, Mette Klarskov Andersen, Steffen Heegaard; Novel characterization of orbital precursor B-cell Lymphoblastic Lymphoma. Invest. Ophthalmol. Vis. Sci. 2018;59(9):5584. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To provide the first genetic, histopathological, immunohistochemical, and clinical characterization of precursor B-cell Lymphoblastic Lymfoma (B-LBL) of the extraocular muscles. First description of an extremely rare cause of orbital lymphoma in adults

Methods : Multible orbital biopsies from a presumed orbital lymphoma were obtained surgically after magnetic resonance imaging (MRI) showed swelling of the medial and inferior rectus muscles of a 56-year-old male. Routine histopathology, immunohistochemestry, and genetic analysis using fluorescent in situ hybridization (FISH), genome-wide array CGH analysis (a-CGH), multiplex ligation-dependent probe amplification (MLPA), and multiplex RT-PCR was performed. The patient was treated with radiotherapy (2Gy x 20) and chemotherapy according to the NOPHO protocol. Serial blood tests, bone marrow aspirates, orbital MRIs and positron emission tomography was done

Results : Histopathologically, a lymphocytic infiltrate was seen within skeletal muscle tissue but not in orbital fat. Tumor cells were small and immature and stained strongly for CD10, CD79a, PAX5, and BCL-2. The Ki-67 proliferative index was 90%. MLPA and a-CHG detected whole chromosomal gain of X and 12, and both hemizygous and homozygous deletion on 9p comprising CDKN2A/B. Furthermore, a-CGH detected copy number imbalances consisting of focal or smaller deletions on chromosomes; 1, 9, 10, 11, and 20. No leukemia-associated translocations were identified when screening for 28 chromosomal translocations by multiplex RT-PCR and FISH was negative for ETV-6-break, MLL-rearrangement, and BCR/ABL. Final diagnosis was precursor B-LBL in the periocular muscles. Unfotunately, the patient quickly deteriorated and passed away five months later

Conclusions : This is the first description of B-LBL in the extraocular muscles and the first genetic characterization. Only seven documented orbital cases in children and young adults exist and this is the oldest patient with B-LBL in the litterature. Orbital B-LBL is extremely rare, may progress quickly in adults and the histopathological diagnosis is challenging to make. It is recommended to obtain material for cytogenetic analysis to support the histopathological diagnosis when orbital biopsies are performed

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

 

Whole chromosomal gain of X and 12, and both hemizygous and homozygous deletion on 9p comprising CDKN2A/B (deletions ranging from 21,323,778 - 30,864,756bp)

Whole chromosomal gain of X and 12, and both hemizygous and homozygous deletion on 9p comprising CDKN2A/B (deletions ranging from 21,323,778 - 30,864,756bp)

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