Case study:

Name: Gary

Age: 6

Gender: boi

Symptoms: pale skin, night sweats, joint pain, fever, abdominal pain, parents noticed distended abdomen. for last 2 weeks

History: Gary brought in by his parents. They complained of fever, night sweats, joint paint and general fatigue. His parents also said he had q distended abdomen.

Physical Exam: upon a physical exam the patient had a low fever of 38C,  and appeared slightly pale and fatigued. His abdomen was also distended and painful when touched. Lasts 2 weeks.

 

An FBC was done and the results were as followed:

RCC: 3.8

HgB: 10

Haematocrit: 0.3

MCV – 7.2

MCH:25

MCHC: 304

WCC: 6

Plt: 97

Differential WCC: neutropenia, lymphopenia, monocytopenia 

Blood film confirms the automated method and comment made on *influx of blast cells*

 

Further testing:

Bone Marrow Aspirate

Special stains:

·       Sudan black B: neg

·       Non-specific esterase: neg

·       PAS: coarse granular

·       Acid phosphaste: positive in T-ALL

Age: 7

Gender: Male

Symptoms: Pale, Tired, shortness of breath, Bruising, High temperature/Fever

History: Minor Haemophilus influenzae ear infection. Admitted last month, still an ongoing problem despite antibiotic treatment.

FBC results: Normocytic, normochromic red cells

RCC: 2.7 x10^12/L

Hct: 0.24 L/L

Hgb: 100g/L

MCV: 90fL

MCHC: 340g/L

MCH: 30pg

WCC: 3x10^9/L

Diff: Decreased neutrophil percentage

Platelets: 100x10^9/L

Myeloperoxidase – negative 

Sudan Black B – negative 

Non-specific esterase - negative 

 Periodic Acid Schiff (PAS) - coarse granular  

Acid phosphatase – negative 

Positive for CD19 

Positive for TdT 

CD7 is negative 

Cytogenetics: Hypodiploidy

Bone Marrow: Failure – Reduced mature cells, increased blasts (>20%)

Parents refused further treatment due to religious beliefs. The patient died shortly after.

 

Presented with lethargy and dyspnoea and appeared uninterested in any questions asked about him and particularly science. 

 

A blood test found: An abnormal number of lymphoblasts and additional blast cells

FBC: Normocytic/ normochromic anaemia was present in the blood film

A noticeable lack of thrombocytes were observed (100x10^9/L)

A low white cell count was also observed: 2x10^9/L

Neutrophils were not present in the blood film 

 

Red cell indices were as follows:

RBC count: 3.2x10^12/L

Hgb: 100 g/L

Hct: 0.31 l/l

 

MCV: 79.49fL

MCH: 25.64pg

MCHC: 322.58

 

Lymphoblasts contained scanty cytoplasm and round nuclei with dense chromatin. All pointing towards a block in dedifferentiation

 

A bone marrow biopsy was performed and was examined:

25% of cells present were blast cells and the sample appeared hypercellular

Special stains showed as follows:

Myeloperoxidase – negative

Sudan Black B – negative

Non-specific esterase – negative

Periodic acid Schiff (PAS) – block positive 

Acid phosphatase – negative

 

A FISH test found that a segment of chromosome 9 known as BCR was fused with the ACL region of chromosome 22 in both copies of the gene.