Limits...
The paradox of recurrent with rare: A rare case of bilateral proptosis and facial palsy in acute myeloid leukemia with recurrent cytogenetic translocation t(8:21).

Kapoor R, Khunger JM, Sharma A, Sachdeva S - Int J Appl Basic Med Res (2015 Jan-Apr)

Bottom Line: A 13-year-old female child presented with bilateral proptosis and subconjuctival hemorrhage of 2 months duration.Recurrent cytogenetic translocation t(8:21) in AML associated with extramedullary manifestation; was discovered which is a rare event.Furthermore, myeloperoxidase negative blasts and periodic acid Schiff negative blasts in AML with t(8:21) is a very rare combination to the best of our knowledge.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

ABSTRACT
A 13-year-old female child presented with bilateral proptosis and subconjuctival hemorrhage of 2 months duration. Subsequently, the biopsy and peripheral smears confirmed the diagnosis of acute myeloid leukemia (AML). Recurrent cytogenetic translocation t(8:21) in AML associated with extramedullary manifestation; was discovered which is a rare event. Furthermore, myeloperoxidase negative blasts and periodic acid Schiff negative blasts in AML with t(8:21) is a very rare combination to the best of our knowledge.

No MeSH data available.


Related in: MedlinePlus

Blast cells positive for t(8:21) (q22,q22) in all metaphases
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4318111&req=5

Figure 2: Blast cells positive for t(8:21) (q22,q22) in all metaphases

Mentions: Investigations revealed anemia with hemoglobin of 6.7 g%, hyperleukocytosis, with total leukocyte count (TLC) of 120000/cu mm; a diagnosis of AML was made by the peripheral smear which had 75% blasts. Bone marrow smear revealed a differential count with blasts predominating (92%), followed by lymphocytes (2%) and the rest was equally constituted by polymorphs, metamyelocytes, and eosinophils; which confirmed the diagnosis of acute leukemia. Blasts were negative for myeloperoxidase (MPO) and periodic acid Schiff (PAS) [Figure 1] however, positive for neuron specific enolase. Blast cells were large with moderate to abundant cytoplasm, high nucleocytoplasmic ratio, lobulated nucleus with fine chromatin with some having reniformnuclei. On cytogenetics; blast cells were positive for t(8:21) (q22, q22) in all metaphases [Figure 2]. Flow cytometry was positive for CD13, CD33, CD117, human leukocyte antigen DR, CD19 and negative for CD3, CD7, CD10, CD20, CD22, MPO. Urine examination, urine culture, blood culture, renal function, coagulation profile, liver function HIV, antinuclear antibodies, antineutrophil cytoplasmic antibody, Vitamin B12 and folate levels, and cerebrospinal fluid (CSF) studies were normal. Direct and indirect coombs test were also negative. Contrast study of head including orbit and paranasal sinuses demonstrated retrobulbar mass, pansinusitis with soft tissue density seen along the roof of both orbits, infiltrates were seen within the orbital isointense to muscle more pronounced on the right. Contrast study of the temporal bone revealed bilateral otitis media and granulation in both of the mastoids [Figure 3]. Further workups viz. ultrasonography abdomen suggested hepatosplenomegaly. Once the diagnosis was established the child was treated with standard chemotherapy regimen and showed improvement suggested by regression of proptosis and improvement of overall clinical status.


The paradox of recurrent with rare: A rare case of bilateral proptosis and facial palsy in acute myeloid leukemia with recurrent cytogenetic translocation t(8:21).

Kapoor R, Khunger JM, Sharma A, Sachdeva S - Int J Appl Basic Med Res (2015 Jan-Apr)

Blast cells positive for t(8:21) (q22,q22) in all metaphases
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4318111&req=5

Figure 2: Blast cells positive for t(8:21) (q22,q22) in all metaphases
Mentions: Investigations revealed anemia with hemoglobin of 6.7 g%, hyperleukocytosis, with total leukocyte count (TLC) of 120000/cu mm; a diagnosis of AML was made by the peripheral smear which had 75% blasts. Bone marrow smear revealed a differential count with blasts predominating (92%), followed by lymphocytes (2%) and the rest was equally constituted by polymorphs, metamyelocytes, and eosinophils; which confirmed the diagnosis of acute leukemia. Blasts were negative for myeloperoxidase (MPO) and periodic acid Schiff (PAS) [Figure 1] however, positive for neuron specific enolase. Blast cells were large with moderate to abundant cytoplasm, high nucleocytoplasmic ratio, lobulated nucleus with fine chromatin with some having reniformnuclei. On cytogenetics; blast cells were positive for t(8:21) (q22, q22) in all metaphases [Figure 2]. Flow cytometry was positive for CD13, CD33, CD117, human leukocyte antigen DR, CD19 and negative for CD3, CD7, CD10, CD20, CD22, MPO. Urine examination, urine culture, blood culture, renal function, coagulation profile, liver function HIV, antinuclear antibodies, antineutrophil cytoplasmic antibody, Vitamin B12 and folate levels, and cerebrospinal fluid (CSF) studies were normal. Direct and indirect coombs test were also negative. Contrast study of head including orbit and paranasal sinuses demonstrated retrobulbar mass, pansinusitis with soft tissue density seen along the roof of both orbits, infiltrates were seen within the orbital isointense to muscle more pronounced on the right. Contrast study of the temporal bone revealed bilateral otitis media and granulation in both of the mastoids [Figure 3]. Further workups viz. ultrasonography abdomen suggested hepatosplenomegaly. Once the diagnosis was established the child was treated with standard chemotherapy regimen and showed improvement suggested by regression of proptosis and improvement of overall clinical status.

Bottom Line: A 13-year-old female child presented with bilateral proptosis and subconjuctival hemorrhage of 2 months duration.Recurrent cytogenetic translocation t(8:21) in AML associated with extramedullary manifestation; was discovered which is a rare event.Furthermore, myeloperoxidase negative blasts and periodic acid Schiff negative blasts in AML with t(8:21) is a very rare combination to the best of our knowledge.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

ABSTRACT
A 13-year-old female child presented with bilateral proptosis and subconjuctival hemorrhage of 2 months duration. Subsequently, the biopsy and peripheral smears confirmed the diagnosis of acute myeloid leukemia (AML). Recurrent cytogenetic translocation t(8:21) in AML associated with extramedullary manifestation; was discovered which is a rare event. Furthermore, myeloperoxidase negative blasts and periodic acid Schiff negative blasts in AML with t(8:21) is a very rare combination to the best of our knowledge.

No MeSH data available.


Related in: MedlinePlus