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

[Michael Albert]

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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