Paratrabecular Bone Marrow Involvement in Autoimmune Lymphoproliferative Syndrome: a potential diagnostic pitfall as a lymphoma mimic

2021 ◽  
Author(s):  
Juliet I Raine ◽  
Robin Dowse ◽  
Ayoma D Attygalle
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Involvement ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Diagnostic Pitfall ◽  
Lymphoproliferative Syndrome

Autoimmune Lymphoproliferative Syndrome (ALPS): A Case with Congenital Onset

2007 ◽  
Vol 10 (4) ◽  
pp. 315-319 ◽  
Author(s):  
Samir B. Kahwash ◽  
Bonita Fung ◽  
Stephanie Savelli ◽  
Jack J. Bleesing ◽  
Stephen J. Qualman
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplant ◽  
Clinical Picture ◽  
Peripheral Blood ◽  
Marrow Transplant ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Clinical Onset ◽  
Lymphoproliferative Syndrome

We describe a case of autoimmune lymphoproliferative syndrome (ALPS), which is very unusual with regard to a clinical onset soon after birth, and a clinical picture dominated by splenomegaly, jaundice, and consumptive peripheral blood cytopenias, with minimal lymphadenopathy. Our documented close follow up demonstrated initial involvement of the spleen, followed by involvement of the bone marrow and the peripheral blood. The patient underwent bone marrow transplant and is alive and well 20 months after diagnosis.

scholarly journals Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure

2021 ◽  
Vol 12 ◽  
Author(s):  
Gianluca Dell’Orso ◽  
Alice Grossi ◽  
Federica Penco ◽  
Roberta Caorsi ◽  
Elena Palmisani ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Adenosine Deaminase ◽  
Bone Marrow Failure ◽  
Genetic Diagnosis ◽  
Functional Study ◽  
Sequencing Analysis ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Hematopoietic Stem ◽  
Lymphoproliferative Syndrome ◽  
Adenosine Deaminase 2

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, such as vasculitis, inflammation, and hematologic manifestations. Some associations of clinical features can mimic autoimmune lymphoproliferative syndrome (ALPS). We report a case of a female patient who fulfilled the 2009 National Institute of Health revised criteria for ALPS and received a delayed diagnosis of DADA2. During her childhood, she suffered from autoimmune hemolytic anemia, immune thrombocytopenia, and chronic lymphoproliferation, which partially responded to multiple lines of treatments and were followed, at 25 years of age, by pulmonary embolism, septic shock, and bone marrow failure with myelodysplastic evolution. The patient died from the progression of pulmonary disease and multiorgan failure. Two previously unreported variants of gene ADA2/CECR1 were found through next-generation sequencing analysis, and a pathogenic role was demonstrated through a functional study. A single somatic STAT3 mutation was also found. Clinical phenotypes encompassing immune dysregulation and marrow failure should be evaluated at the early stage of diagnostic work-up with an extended molecular evaluation. A correct genetic diagnosis may lead to a precision medicine approach consisting of the use of targeted treatments or early hematopoietic stem cell transplantation.

scholarly journals Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation

Haematologica ◽  
2016 ◽  
Vol 102 (2) ◽  
pp. 364-372 ◽  
Author(s):  
Yi Xie ◽  
Stefania Pittaluga ◽  
Susan Price ◽  
Mark Raffeld ◽  
Jamie Hahn ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Lymphoproliferative Syndrome

scholarly journals Bone marrow metastasis of prostatic adenocarcinoma with post-treatment foamy-like changes: A diagnostic pitfall

2014 ◽  
Vol 8 (11-12) ◽  
pp. 941
Author(s):  
Nuri Yigit ◽  
Julia Turbiner Geyer
Keyword(s):  
Bone Marrow ◽  
Hormonal Therapy ◽  
Bone Marrow Involvement ◽  
Malignant Tumour ◽  
Treatment Modalities ◽  
Neoplastic Cells ◽  
Diagnostic Pitfall ◽  
Stage Disease ◽  
Abundant Cytoplasm ◽  
History Of

Prostatic acinar adenocarcinoma (PAA) is the most common malignant tumour of the male genital system. Hormonal therapy and radiotherapy are widely-used treatment modalities in advanced stage disease. However, with hormonal therapy, the morphology of the neoplastic cells can be altered with a shift towards benign-appearing cells with inconspicuous nucleoli and abundant cytoplasm. When the tumour spreads to the bone marrow, these neoplastic cells can mimic foamy histiocytes, which may lead to a misdiagnosis. This becomes more challenging if a concurrent bone marrow malignancy is identified. Attention should be paid if foamy cells are detected in bone marrow, particularly if the patient has a history of PAA. To the best of our knowledge, this is the first report of simultaneous bone marrow involvement by metastatic PAA with mimicking foamy histiocytes and lymphoplasmacytic lymphoma.

scholarly journals Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation

1998 ◽  
Vol 22 (4) ◽  
pp. 375-380 ◽  
Author(s):  
BJ Sleight ◽  
VS Prasad ◽  
C DeLaat ◽  
P Steele ◽  
E Ballard ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Autoimmune Lymphoproliferative Syndrome ◽  
Lymphoproliferative Syndrome

Bilateral uveitis in a patient with autoimmune lymphoproliferative syndrome

2005 ◽  
Vol 139 (3) ◽  
pp. 562-563 ◽  
Author(s):  
Wee-Kiak Lim ◽  
Roxana Ursea ◽  
Koneti Rao ◽  
Ronald R. Buggage ◽  
Eric B. Suhler ◽  
...  
Keyword(s):  
Autoimmune Lymphoproliferative Syndrome ◽  
Lymphoproliferative Syndrome
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