P13: Breast implant-associated anaplastic large-cell lymphoma presenting as a tumor mass and recurring as a seroma, with dual JAK1 and STAT3 mutations
Details
Serval ID
serval:BIB_957A4B6ACCB5
Type
Inproceedings: an article in a conference proceedings.
Publication sub-type
Poster: Summary – with images – on one page of the results of a researche project. The summaries of the poster must be entered in "Abstract" and not "Poster".
Collection
Publications
Institution
Title
P13: Breast implant-associated anaplastic large-cell lymphoma presenting as a tumor mass and recurring as a seroma, with dual JAK1 and STAT3 mutations
Title of the conference
Swiss Pathology Days
Address
Thun, Switzerland, November 10-12, 2017
ISSN
0172-8113
1432-1963
1432-1963
ISSN-L
1432-1963
Publication state
Published
Issued date
20/10/2017
Volume
38
Number
6
Series
Der Pathologe
Pages
578
Language
english
Abstract
Background: Breast implant-associated anaplastic large-cell lymphoma
(BI-ALCL) is a rare subtype of ALK-negative ALCL arising specifically
in association with breast implants, most often as a periprosthetic seroma.
Most patients have excellent outcomes, with a tumor mass being an
adverse prognostic factor. Information on genetic alterations is limited. In
seven cases with reported NGS data, a few somatic mutations were detected
including STAT3 S614R (two cases) or JAK1 G1097V (one case). We
report genetic findings in paired BI-ALCL samples of a patient presenting
with a tumor and recurring with a seroma.
Methods: Primary and recurrent FFPE tumor samples were analyzed by a
T-cell-lymphoma-customized NGS assay targeting 26 genes.
Results: A 1943-born woman, with silicone breast implants since 1992,
presented in 2011 with a right periprosthetic breast mass, without effusion.
Tumorectomy showed a 2.8 cm infiltrating tumor of large anaplastic
cells, positive for CD30, CD8, CD45RO, granzyme B and perforine, negative
for ALK, EMA, CD2, CD3, CD4, CD5, CD7, CD15, CD20, CD45
and CD56. BI-ALCL was diagnosed and staged IE. CHOP polychemotherapy
and autologous stem cell transplantation resulted in complete remission.
In 2015 the disease recurred as a right periprosthetic seroma: the
anaplastic cell proliferation, confined to the surface of the pseudocapsule,
showed similar immunophenotype and TRgene rearrangements. NGS revealed
pathogenic JAK1 (c.3290G>T, p.G1097V) and STAT3 (c.1840A>C,
p.S614R) mutations in both specimens. Immunohistochemistry showed
strong nuclear pSTAT3 expression, reflecting mutation-induced STAT3
activation. The patient is currently in complete remission.
Conclusions: While single JAK1 or STAT3 mutations are found in other
T-cell malignancies, dual JAK1/STAT3 mutations as observed in this
BI-ALCL have so far been reported only in nodal ALK-negative ALCLs.
Specifically, the JAK1 G1097V and STAT3 S614R variants found by us and
others could represent recurrent drivers in BI-ALCL. Furthermore, similar
molecular alterations seem to underlie both seroma and mass presentation
(BI-ALCL) is a rare subtype of ALK-negative ALCL arising specifically
in association with breast implants, most often as a periprosthetic seroma.
Most patients have excellent outcomes, with a tumor mass being an
adverse prognostic factor. Information on genetic alterations is limited. In
seven cases with reported NGS data, a few somatic mutations were detected
including STAT3 S614R (two cases) or JAK1 G1097V (one case). We
report genetic findings in paired BI-ALCL samples of a patient presenting
with a tumor and recurring with a seroma.
Methods: Primary and recurrent FFPE tumor samples were analyzed by a
T-cell-lymphoma-customized NGS assay targeting 26 genes.
Results: A 1943-born woman, with silicone breast implants since 1992,
presented in 2011 with a right periprosthetic breast mass, without effusion.
Tumorectomy showed a 2.8 cm infiltrating tumor of large anaplastic
cells, positive for CD30, CD8, CD45RO, granzyme B and perforine, negative
for ALK, EMA, CD2, CD3, CD4, CD5, CD7, CD15, CD20, CD45
and CD56. BI-ALCL was diagnosed and staged IE. CHOP polychemotherapy
and autologous stem cell transplantation resulted in complete remission.
In 2015 the disease recurred as a right periprosthetic seroma: the
anaplastic cell proliferation, confined to the surface of the pseudocapsule,
showed similar immunophenotype and TRgene rearrangements. NGS revealed
pathogenic JAK1 (c.3290G>T, p.G1097V) and STAT3 (c.1840A>C,
p.S614R) mutations in both specimens. Immunohistochemistry showed
strong nuclear pSTAT3 expression, reflecting mutation-induced STAT3
activation. The patient is currently in complete remission.
Conclusions: While single JAK1 or STAT3 mutations are found in other
T-cell malignancies, dual JAK1/STAT3 mutations as observed in this
BI-ALCL have so far been reported only in nodal ALK-negative ALCLs.
Specifically, the JAK1 G1097V and STAT3 S614R variants found by us and
others could represent recurrent drivers in BI-ALCL. Furthermore, similar
molecular alterations seem to underlie both seroma and mass presentation
Create date
13/11/2017 13:42
Last modification date
20/08/2019 14:57
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