[CIS PIDD] [cis-pidd] Lymphoproliferation and massive splenomegaly in CVID

Sun Sep 25 21:22:01 EDT 2016

Maybe consider PIK-3CD GOF.  

    On Sunday, September 25, 2016 7:59 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:

 Dear Dr. Grossman,
Thanks for the suggestion. There was anemia with the hemoglobin of 9.1 g/dl (91 g/L). Neutrophil and lymphocyte counts were essentially normal. A bone marrow examination was also carried out and it was reported to be normal. No features of hemolysis/ spherocytosis in the peripheral smear. An HPLC was also carried out- normal. LDH values were 891 U/L (not a great rise).We would have a look at flow plots again for double positive T cells and request for clonality studies in peripheral blood.
Kind regardsVignesh P
Vignesh PMD Pediatrics, DM resident in Pediatric Clinical Immunology and Rheumatology (Jan 2015- Dec 2017),Allergy Immunology Unit, Advanced Pediatrics Center,Postgraduate Institute of Medical Education and Research,Chandigarh, India. 160012.E mail: vigimmc at gmail.comPhone no: +91-9592047009, +91-9944547009
On Mon, Sep 26, 2016 at 4:41 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:

Dear Vignesh,
If he had a biopsy (excisional or core) of an enlarged axillary node that was negative for malignancy as read by a hematopathologist, I don't think that mediastinoscopy is necessary.  As I'm sure you know, hepatosplenic T cell lymphoma is rare in adults and presumably even more rare in children and it usually doesn't involve lymph nodes.  While lymph nodes in indolent lymphomas can wax and wane, the persistently enlarged spleen again sways me away from a malignant diagnosis.  How big were the enlarged nodes?  Did he have lymphadenopathy above and below the diaphragm?  What is the patient's LDH?  Is there any clonality in the T cell population in the peripheral blood?  I assume flow cytometry on the lymph node was negative for clonality.  His platelets are low, but is his hemoglobin normal?  What about neutrophils and monocytes?  In other words, is there anything to suggest bone marrow involvement? 
Also, I apologize if I missed this in your summary, but why is his right middle lobe collapsed? 
I agree with pursuing a genetic diagnosis.  
Warm regards, Jennifer 

Jennifer Grossman MD, FRCPCHematologistDivision of Hematology and Hematologic MalignanciesAlberta Health Services Calgary, Alberta Ph: 403-944-1564  Fax: 403-944-2102
On Sun, Sep 25, 2016 at 11:06 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org > wrote:

Thanks, Dr.Sokolic, Dr.Yu, and Dr.Grimbacher for the comments. Would proceed with the mediastinoscopy for a core biopsy to rule out a neoplasm. Also, he needs a genetic diagnosis for his condition.ICOS expression by flow cytometry in this patient is much lower when compared to control. Any significance for this?
Vignesh PMD Pediatrics, DM resident in Pediatric Clinical Immunology and Rheumatology (Jan 2015- Dec 2017),Allergy Immunology Unit, Advanced Pediatrics Center,Postgraduate Institute of Medical Education and Research,Chandigarh, India. 160012.E mail: vigimmc at gmail.comPhone no: +91-9592047009, +91-9944547009
On Mon, Sep 26, 2016 at 1:52 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org > wrote:

Dear Vignesh,Establishing the genetic diagnosis would be key for me:APDS? CTLA4? ALPS? LRBA?This might affect your treatment options and prognosis.Best, Bodo****************************** **********Univ.-Prof. Dr. med. B. Grimbacher Scientific-DirectorCCI-Center for Chronic ImmunodeficiencyUNIVERSITÄTSKLINIKUM FREIBURGTel.: 0761 270-77731  Fax: -77744Breisacherstraße 115, 79106 Freiburgbodo.grimbacher at uniklinik-frei burg.de www.uniklinik-freiburg.de/cci
Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org >
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net>
Datum: Sunday 25 September 2016 17:19
An: CIS-PIDD <cis-pidd at lyris.dundee.net>
Betreff: [cis-pidd] Lymphoproliferation and massive splenomegaly in CVID

Dear all,
We have an 11-year-old male child admitted under our care with the diagnosis of CVID. Need opinions and suggestions for some queries we have in the management of this child. 
He was incidentally detected to have massive splenomegaly (palpable till umbilicus) and generalized lymphadenopathy last year. No significant infections.
Nov' 15- 1. Contrast-enhanced CT chest showed enlarged multiple mediastinal nodes with nodular opacities in the right upper lobe and left upper lobe. 2. Fine needle aspiration of mediastinal node- intermediate sized atypical lymphoid cells that had rim of cytoplasm and round, large nuclei, many showing indentations. (? Non-Hodgkin Lymphoma)3. Axillary node biopsy- Reactive lymphoid hyperplasia with paracortical T-lymphoid expansion4. IgA- 32 mg/dl (70-400), IgG- 216 mg/dl (700-1600), IgM- <25 (50-180)5. CD3- 84.5%; CD 19- 2.55%6. ESR- 09 mm; CRP- 7.2 mg/L; platelets- 1.3 lakhs/ cu.mm
Diagnosed as CVID with atypical lymphoproliferation. On regular monthly replacement IVIg therapy.
There was no decrease in spleen size till date. Over time, there was a progressive right middle lobe collapse/ consolidation. Splenic aspirate yielded predominant lymphocytes and lymphoplasmacytic infiltrates. 
Specific questions:
There is no progression in spleen size (from Nov'15- Sep'16) and the peripheral nodes have actually regressed. Can this be some indolent malignancy like hepatosplenicT cell lymphoma? This is thought of as there were no features of systemic inflammation (normal ESR and CRP).

Thank you.Eagerly awaiting your kind response. 
RegardsVignesh PMD Pediatrics, DM resident in Pediatric Clinical Immunology and Rheumatology,Allergy Immunology Unit, Advanced Pediatrics Center,Postgraduate Institute of Medical Education and Research,Chandigarh, India. 160012.E mail: vigimmc at gmail.comPhone no: +91-9592047009, +91-9944547009---You are currently subscribed to cis-pidd as: bodo.grimbacher at uniklinik-frei burg.de.To unsubscribe click here: http://cts.dundee.net/u?id=963 96431.4f2a33ac30bfa58d3a76b5fb 5b03d33a&n=T&l=cis-pidd&o=3859 566(It may be necessary to cut and paste the above URL if the line is broken)or send a blank email to leave-3859566-96396431.4f2a33a c30bfa58d3a76b5fb5b03d33a at lyri s.dundee.net ---  You are currently subscribed to cis-pidd as: vigimmc at gmail.com.  To unsubscribe click here: http://cts.dundee.net/u?id=104 900047.fc9f4e54cae45cd032b86c4 9d3dccf32&n=T&l=cis-pidd&o=385 9898  (It may be necessary to cut and paste the above URL if the line is broken)  or send a blank email to leave-3859898-104900047.fc9f4e 54cae45cd032b86c49d3dccf32 at lyr is.dundee.net

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