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

[Eleonora Gambineri]

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: 

> 

> ·         Normal cellularity with decreased myeloid series

> ·         TERC gene and TINF2 gene: no mutations

> ·         FISH chromosome 7, 8 LSI 21 (21q22.13-q22.2): no chromosomal abnormalities

> ·         Parvovirus  B19 PCR: positive

> 

> July 2011:

> 

> ·         WBC: 2470/μL, Neutrophils 22.8% (absolute value: 563/μL) Monocyte 0.4%, Hemoglobin 13 g/dl, platelet  138000/μL

> ·         Parvovirus B19 blood PCR: negative

> ·         Clinically well

> 

>  Currently ongoing: FAS induced apoptosis assay, B memory cell phenotype, specific antibodies (i.e. anti-pneumococcus, anti-tetanus)

> 

> 

> 

> Any thoughts/suggestions is really appreciated!

> 

> Thanks.

> 

> BEst wishes,

> 

> Eleonora

> 

> 

> *******************************************************************

> Dott.ssa Eleonora Gambineri

> Ricercatore Universitario

> 

> Universita' degli Studi di Firenze, Dipartimento di Scienze per la Salute della Donna e del Bambino

> Ospedale Pediatrico "Anna Meyer", Dipartimento di Oncoematologia-Unità TMO

> Viale Gaetano Pieraccini, 24

> 50139 FIRENZE

> Tel 055 5662405 (ufficio)

>        055 5662606 (reparto T.M.O.)

> 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, Department of Haem/Onc-BMT Unit

> Viale Gaetano Pieraccini, 24

> 50139 FIRENZE

> ITALY

> Tel +39 055 5662405 (office)

>        +39 055 5662606 (BMT Unit)

> Fax +39 055 4221012

> e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it

> ********************************************************************

> 

> 

> 

> 

> 


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