P13: Breast implant-associated anaplastic large-cell lymphoma presenting as a tumor mass and recurring as a seroma, with dual JAK1 and STAT3 mutations

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ID Serval
serval:BIB_957A4B6ACCB5
Type
Actes de conférence (partie): contribution originale à la littérature scientifique, publiée à l'occasion de conférences scientifiques, dans un ouvrage de compte-rendu (proceedings), ou dans l'édition spéciale d'un journal reconnu (conference proceedings).
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Poster: résume de manière illustrée et sur une page unique les résultats d'un projet de recherche. Les résumés de poster doivent être entrés sous "Abstract" et non "Poster".
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Publications
Institution
Titre
P13: Breast implant-associated anaplastic large-cell lymphoma presenting as a tumor mass and recurring as a seroma, with dual JAK1 and STAT3 mutations
Titre de la conférence
Swiss Pathology Days
Auteur⸱e⸱s
Bisig B., Letourneau A., Maerevoet M., Millowich D., Dewind R., Missiaglia E., de Leval L.
Adresse
Thun, Switzerland, November 10-12, 2017
ISSN
0172-8113
1432-1963
ISSN-L
1432-1963
Statut éditorial
Publié
Date de publication
20/10/2017
Volume
38
Numéro
6
Série
Der Pathologe
Pages
578
Langue
anglais
Résumé
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
Création de la notice
13/11/2017 13:42
Dernière modification de la notice
20/08/2019 14:57
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