[CIS-PAGID] Leucopenia with no monocytes and low B cells-Update!

[Pere Soler Palacin]

Dear old, we have a similar GATA-2 def case in an older girl. She's doing well and has not signs of MDS in BMA yet. In addition, she has not matched sibling donor. 

Would you consider URD-HSCT in this case? 



P. 



Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     Assistant Professor. Universitat Autònoma de Barcelona.                                                       
Passeig de la Vall d'Hebron 119-129. 
08035 Barcelona. Spain. 
Tel: 0034934893140. Fax: 0034934893039. 
E-mail: psoler at vhebron.net ; 34660psp at comb.cat . Web: www.upiip.com . 
  

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Pere Soler Palacín, MD, PhD. Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron.     Assistant Professor. Universitat Autònoma de Barcelona.                                                       
Passeig de la Vall d'Hebron 119-129. 
08035 Barcelona. Spain. 
Tel: 0034934893140. Fax: 0034934893039. 
E-mail: psoler at vhebron.net ; 34660psp at comb.cat . Web: www.upiip.com . 
  

No imprimir aquest correu ajudarà a preservar el medi ambient. 
Si vostè no és el destinatari del missatge, o l'ha rebut per error, si us plau notifiqui-ho al remitent i destrueixi el missatge amb tot el seu contingut. Està prohibida la distribució no autoritzada del contingut d'aquest missatge. 

No imprimir este correo ayudará a preservar el medio ambiente. 
Si usted no es el destinatario del mensaje, o lo ha recibido por error, notifíquelo por favor al remitente y destruya el mensaje con todo su contenido. Está prohibida la distribución no autorizada del contenido de este mensaje. 

----- Mensaje original ----- 
De: "Michael Albert" <mialbert at gmail.com> 
Para: pagid at list.clinimmsoc.org 
Enviados: Sábado, 12 de Mayo 2012 10:37:48 
Asunto: Re: [CIS-PAGID] Leucopenia with no monocytes and low B cells-Update! 



Dear Ele, 
1. Yes, absolutely. 
2. Taking into account the monosomy 7 I would go for treo/flu or maybe even better treo/thiotepa/flu. 
Best , 
 Michael 





PD Dr. med. Michael Albert 


Oberarzt 


Abteilung für Pädiatrische Hämatologie/Onkologie 


Leiter der Stammzelltransplantation 


Dr. von Haunersches Kinderspital der LMU 


Lindwurmstr.4 


80337 München 


Tel: 089 5160 2785 


Fax: 089 5160 4719 

Am 11.05.2012 um 15:59 schrieb Eleonora Gambineri < eleonora.gambineri at unifi.it >: 





Dear all, 


a brief update on the case I posted few months ago. 


We were able to find GATA 2 mutation thank to Matt Collin who performed the analysis. 
His mutation is potentially an Emberger-type mutation, but without lymphoedema to date. 


He is 9 y/o and clinically well. He recently performed a bone marrow aspirate as routinely scheduled. The results  showed  monosomy 7 in 29% of analyzed nuclei (FISH analysis) and refractory cytopenia, compatible with MDS. This finding was  not present in the previous control ( about 10 months ago-before the  diagnosis). His WBC are stable around 2000-2500/ul with neutropenia, no monocytes etc.  
So here my questions: 


1. I believe we should move on with HSCT already. Don't we? He has a matched sibling donor, the brother with WT GATA2.  
2. What type of conditioning would you suggest considering he is a child? RIC? 
     flu mel + campath? 
     flu treo + campath? 
     others? 


Your inputs are largely appreciated! 


Thanks. 


Best wishes, 
Eleonora 





***************************************************************** 
Dott.ssa Eleonora Gambineri 
Ricercatore Universitario 
Universita' degli Studi di Firenze 
Dipartimento della Salute della Donna e del Bambino 
Ospedale Pediatrico "Anna Meyer" 
Viale Gaetano Pieraccini,24 
50139 FIRENZE 
Tel 055 5662405 (ufficio)/055 5662606 (reparto TMO) 
Fax 055 4221012 
e-mail:  eleonora.gambineri at unifi.it ;  e.gambineri at meyer.it 


Eleonora Gambineri, MD 
Researcher/Assistant Professor 
University of Florence 
Department of Sciences for Woman and Child's Health 
"Anna Meyer" Children's Hospital 
Viale Gaetano Pieraccini,24 
50139 FIRENZE 
ITALY 
Tel +39 055 5662405 (office)/055 5662606(BMT ward) 
Fax +39 055 4221012 
e-mail:  eleonora.gambineri at unifi.it ;  e.gambineri at meyer.it 








On Sep 21, 2011, at 7:39 PM, Eleonora Gambineri wrote: 





Dear all, 

I would like your inputs on the case below: 

8y/o male 

Past medical history: 
·           recurrent otitis and pharyngitis until adenoidectomy (4 yo) 
·           4yo: chickenpox with normal course 
·           Since 6yo: episodes of aphthous stomatitis every2-3 months, sometimes associated with fever. 

·           August 2010: CBC -> leucopenia  

Laboratory work up: 

October 2010: 
·           WBC: 3300/μL, Neutrophils 26.6% (absolute value: 877/ μL) Monocyte 0% 
·           CMV, EBV, Toxoplasmosis: negative 
·           Celiac disease screening: negative 
·           ANA, ENA, pANCA: negative 
·           Anti-neutrophils Ab: negative 
·           Immunoglobulins: within normal range 

·           Lymphocyte subsets:    B cells 9% (absolute value 240/ μL),  T cells CD3+ 87% (av: 2310), T cells CD3+CD4+ 48% (av: 1270/ μL), T cells CD3+CD8+ 22% (av: 580/ μL),  NK cells 4% (110/ μL) 

Genuary 2011 

·           Bone Marrow Aspiration:    hypocellular for the age of the patient, dysmyelopoiesis 

May 2011: fever + arthritis 
·           WBC: 3200/μL, Neutrophils 21.7% (absolute value: 690/μL) Monocyte 0% , Hemoglobin 10.3 g/dl, platelet    153000/μL 
·           Parvovirus B19 blood PCR:  positive 
·           Lymphocyte subsets:    B cells 7% (absolute value 176/ μL),  T cells CD3+ 92% (av: 2480/ μL), T cells CD3+CD4+ 54% (av: 1457/ μL), T cells CD3+CD8+ 27% (av: 742/ μL),  NK cells 1% (39/ μL) 

·           CD3+TCRαβ+CD4-CD8- (DNT cells): 1,3% of CD3+lymphocyte 

Bone Marrow Aspiration:  
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