Question

O. M. is a 6-year-old child at a freestanding emergency room. Per the mother, O.M. is complaining of being tired, sleeping at night with several naps in the day, and her appetite is decreasing. The mother reports an uneventful pregnancy and delivery; O.M. has met her milestones, and immunizations are up to date. Her parents and younger brother are healthy. Paternal grandfather died of colorectal cancer in his 70s. She has no medical history and has no medication.  

All vital signs are normal except for an elevated heart rate and she is minimally underweight.

All assessment findings are normal with the exception of:

·        Skin pale but warm and dry

·        Bruising over the buttocks and left flank

·        Noted oral mucous membranes with petechiae

·         Mild enlarged, cervical, submaxillary, inguinal nodes

·        Presence of hepatosplenomegaly

Blood work:

Hemoglobin decreased

Hematocrit decreased

RBC count decreased

WBC 13,100/mm3

Neutrophils 58%

WBC differential identifies 11% are blast cells

Platelet count 30,000/mm3

PT/PTT normal

Later results:

Bone marrow aspirate: 94% blast cells, 3% erythroblasts, 3% all other cells.

Reverse Transcriptase - Polymerase Chain Reaction: positive TEL-AMI fusion gene. No other abnormality.

Chest x-ray: Normal

Lumbar puncture: Cerebral spinal fluid normal

Immunology: positive for cytoplasmic µ heavy chain protein

1.      Explain why O.M. is underweight (other than decreased appetite). Use pathophysiology or physiological phenomenon to explain your answer.

2.  When you read the case did you suspect acute lymphoblastic leukemia (ALL) or something else? Explain.

3.Explain the abnormality of TEL-AMI fusion gene and specify which cells are affected, T-cells or B-cells.

4 Explain why the red blood cell count, hemoglobin, and hematocrit levels are low. Use pathophysiology or physiological phenomenon to explain your answer.

5.Explain what is occurring with the white blood cell count and differential. Use pathophysiology or physiological phenomenon to explain your answer.

Answer 1

1. The patient is having a blood cancer and this causes the increase in the catabolism of body stores which are needed by the cancer cells and there is also increase in the amount of inflammatory markers which decreases appetite. So both of these mechanism plays role in the weight loss in cancer patients

2. ALL is suspected in this patient as this is the most common blood cancer affecting children below 10 years and also the blood and bone marrow picture along with the clinical findings are all suggesting towards ALL

3. The TEL- AML fusion gene is a product of translocation between the chromosome 12 and 21 which produces fusion gene. This gene causes the proliferation of B lymphocytes leading to the formation of B cell ALL

4. The bone marrow in this patient is filled up with the blast cells and it prevents the growth and development of red blood cells and platelets which thus causes low hemoglobin, low hematocrit values

5. The differential count also shows more blast cells which are the immature cancer cells and these also effects the other WBC cell lines due to interference with the maturity of these cells in the bone marrow

Hope this helps.... Thank you!!!