Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia–telangiectasia caused by novel compound heterozygous variants in ATM

Author(s):  
Daichi Sato ◽  
Kunihiko Moriya ◽  
Tomohiro Nakano ◽  
Chihiro Miyagawa ◽  
Saori Katayama ◽  
...  
2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Gary Kwok Cheong Lee ◽  
Dorothee Bienzle ◽  
Stefan Matthias Keller ◽  
Mei-Hua Hwang ◽  
Nikos Darzentas ◽  
...  

Abstract Background Lymphocytic neoplasms with frequent reactive lymphocytes are uncommonly reported in dogs, and can pose a diagnostic challenge. Different diagnostic modalities such as cytology, flow cytometry, histopathology, immunohistochemistry, and clonality testing, are sometimes required for a diagnosis. This report illustrates the value of using a multi-modal diagnostic approach to decipher a complex lymphocytic tumor, and introduces immune repertoire sequencing as a diagnostic adjunct. Case presentation A 10-month-old Great Dane was referred for marked ascites. Cytologic analysis of abdominal fluid and hepatic aspirates revealed a mixed lymphocyte population including numerous large lymphocytes, yielding a diagnosis of lymphoma. Flow cytometrically, abdominal fluid lymphocytes were highly positive for CD4, CD5, CD18, CD45, and MHC II, consistent with T cell lymphoma. Due to a rapidly deteriorating clinical condition, the dog was euthanized. Post mortem histologic evaluation showed effacement of the liver by aggregates of B cells surrounded by T cells, suggestive of hepatic T cell-rich large B cell lymphoma. Immune repertoire sequencing confirmed the presence of clonal B cells in the liver but not the abdominal fluid, whereas reactive T cells with shared, polyclonal immune repertoires were found in both locations. Conclusions T cell-rich large B cell lymphoma is a rare neoplasm in dogs that may be challenging to diagnose and classify due to mixed lymphocyte populations. In this case, the results of histopathology, immunohistochemistry and immune repertoire sequencing were most consistent with a hepatic B cell neoplasm and reactive T cells exfoliating into the abdominal fluid. Immune repertoire sequencing was helpful in delineating neoplastic from reactive lymphocytes and characterizing repertoire overlap in both compartments. The potential pitfalls of equating atypical cytomorphology and monotypic marker expression in neoplasia are highlighted.


Rare Tumors ◽  
2015 ◽  
Vol 7 (4) ◽  
pp. 160-162 ◽  
Author(s):  
Pooja Advani ◽  
Jason Starr ◽  
Abhisek Swaika ◽  
Liuyan Jiang ◽  
Yushi Qiu ◽  
...  

2011 ◽  
Vol 61 (11) ◽  
pp. 662-666 ◽  
Author(s):  
Sho Yamazaki ◽  
Yosei Fujioka ◽  
Fumihiko Nakamura ◽  
Satoshi Ota ◽  
Aya Shinozaki ◽  
...  

2014 ◽  
Vol 210 (12) ◽  
pp. 1167-1170
Author(s):  
Dimas Suárez-Vilela ◽  
Francisco Miguel Izquierdo ◽  
Jose Ramón Riera-Velasco ◽  
Patricia Morales-del Burgo

2016 ◽  
Vol 28 (6) ◽  
pp. 789 ◽  
Author(s):  
Mi-Hye Lee ◽  
Ik-Jun Moon ◽  
Woo-Jin Lee ◽  
Chong-Hyun Won ◽  
Sung-Eun Chang ◽  
...  

2019 ◽  
Vol 37 ◽  
pp. 301-301 ◽  
Author(s):  
C. Thieblemont ◽  
S. Le Gouill ◽  
R. Di Blasi ◽  
G. Cartron ◽  
F. Morschhauser ◽  
...  

Author(s):  
Walid Shalata ◽  
Ismaell Massalha ◽  
Kayed Al-Athamen

In this report, we describe a 38-year-old male with a very rare type of lymphoma, large B cell lymphoma with T cell-rich background and nodules lacking follicular dendritic cell meshworks (THRLBCL). In 2016 the patient presented hot flashes and night sweats (B-symptoms) and peripheral edema. He was treated with R-CHOP (doxorubicin, vincristine, cyclophosphamide, rituximab and Prednisone) chemotherapy, a Positron emission tomography–computed tomography (PET-CT) scan was performed after four cycles of treatment which showed radiologic complete response and blood test (complete blood count (CBC)) results showed normal ranges. As of September, 2020 he patient remains in complete remission. We searched the literature for descriptions of cases spanning the diagnostic spectrum of THRLBCL and we identified only five cases worldwide. The last reported case was in 2014 with distinctive features that were difficult to classify according to the World Health Organization criteria or previously described variants. Our patient is the sixth case of THRLBCL to be reported. He is the youngest of the reported cases and the first from Israel and the Middle East.


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