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Case presentation: 7 year old Sheen, no previous history, gender: male

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.

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Case presentation: name, age, gender, symptoms and history

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

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Name: Jerimiah Hunter

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

Indices:

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

Further testing:
Due to FBC results, a blood film was performed
The b lood film showed neutropaenia, normocytic and normochromic red blood cells. Increased blast cells

Staining:

Myeloperoxidase – negative

Sudan Black B – negative

Non-specific esterase - negative

Periodic Acid Schiff (PAS) - coarse granular

Acid phosphatase – negative

Phenotyping:

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.

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Age 13, Male. Symptoms include : fever, spontaneous bruising, sweats, lethargic, shortness of breath, bone and joint pain, frequent nose bleeds..

FBC results :
Rcc : 4.8 x10^12/L
Hb : 12.5g/dl
WCC :15x10^9/L
Diff : neutrophil : 0.8x10^9/L
Platelets : 95x10^9/L
MCV : 82 fl
Hct : 0.39 l/l
MCHC : 320g/l

Further Testing
Staining : Sudan Black B - negative
Periodic acid schiff - coarse block positivity
Phenotyping : CD10, Clg
Cytogenetics : t(9;22)(q34;q11.2)
Bone Marrow : bone marrow aspirate shows 92% blast cells (hypercellular)

Blood film : nucleated, immature RBC, lymphoblasts present, low platelet count, low no. of neutrophil, low amount of platelets.

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Bone marrow examination, cytochemical stains, immunophenotyping, cytogenetics

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Reference ranges for some parameters below:
RCC (4.0-5.2x10¹²/L)
Hbg (11-14g/dL)
Hct (0.36-0.45L/L)
MCV (80-100fL)
MCH (27-32pg)
MCHC (310-370g/L)
Plt count (150-400x10⁹/L)
WCC (4-11x10⁹/L)

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Post details of name, age, gender, symptoms, clinical history under here.