Limits...
Down syndrome with microgranular variant of acute promyelocytic leukemia in a child: a case report.

Jain D, Singh T, Arora P - J Med Case Rep (2007)

Bottom Line: Acute promyelocytic leukemia (APL) accounts for less than 10% of pediatric AML.She came to our hospital with bleeding manifestations.Based on this morphology and cytochemistry, a diagnosis of APL microgranular variant (M3v) was made.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pathology, Maulana Azad Medical College, New Delhi, India. deepalijain76@gmail.com.

ABSTRACT

Background: Acute promyelocytic leukemia (APL) accounts for less than 10% of pediatric AML. Cases of APL in Down syndrome (DS) have been described in the literature rarely and it is rarer still to find the microgranular variant (M3v) of APL in trisomy 21 patients.

Case presentation: We present a case of a five-year-old female with Down syndrome diagnosed with acute promyelocytic leukemia (APL). She came to our hospital with bleeding manifestations. Blood and bone marrow examination revealed promyelocytes showing a few fine granules and occasional Auer rods. Based on this morphology and cytochemistry, a diagnosis of APL microgranular variant (M3v) was made.

Conclusion: This case report emphasizes the importance of a high index of suspicion in the diagnosis of acute promyelocytic leukemia microgranular variant in Down syndrome.

No MeSH data available.


Related in: MedlinePlus

Photomicrograph of bone marrow biopsy showed hypercellular marrow infiltrated by sheets of blasts and promyelocytes and marked depression of normal haematopoiesis, H&E ×600.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC2211491&req=5

Figure 3: Photomicrograph of bone marrow biopsy showed hypercellular marrow infiltrated by sheets of blasts and promyelocytes and marked depression of normal haematopoiesis, H&E ×600.

Mentions: A five-year-old female child, a known case of DS, presented with a history of gum bleeding, tarry stools and hematemesis of five days duration. On physical examination, she was pale and had petechiae, bleeding gums and hepatomegaly. There was an enlarged submandibular lymph node. Her coagulogram studies were unremarkable. Serum fibrinogen levels were within normal limits (2.0 g/l); and tests for fibrin degradation products and D-dimer were also negative. Hemogram findings were as follows: Hb 5 g/dl; WBC 80 × 103/l; and platelets 12 × 109/l. The peripheral smear demonstrated an increased number of WBCs, neoplastic promyelocytes and occasional blasts (90%) with high nuclear-cytoplasmic ratio and conspicuous nucleoli. These promyelocytes had markedly lobulated and invaginated nuclei. The cytoplasm of the cells contained no clearly recognizable granules but showed occasional Auer rods (Fig 1a). The red cells showed mild anisocytosis with a few macrocytes. A bone marrow aspirate and biopsy was performed with the following differential: 70% promyelocytes which had a morphology similar to those seen in the peripheral blood; 23% blasts; 5% myelocytes; and 2% lymphocytes. Normal hematopoiesis was suppressed (Fig 1b). The promyelocytes were strongly positive for myeloperoxidase (MPO) stain (Fig 2). Periodic acid Schiff's stain was predominantly negative except for fine granular positivity in an occasional promyelocyte. Unfortunately, conventional cytogenetic analysis could not be performed in this case due to unavailability of fresh blood or marrow sample after the diagnosis, as the patient left against medical advice. However, immunophenotypically these cells were strongly positive for anti MPO stain. A trephine biopsy showed hypercellular marrow infiltrated by sheets of blasts and promyelocytes and a marked depression of normal hematopoiesis (Fig 3). Based on the morphology and cytochemical analysis, a diagnosis of AML-M3v was made. All-trans retinoic acid (ATRA) with chemotherapy was prescribed. However, the patient left against medical advice. Therefore, the final outcome could not be ascertained.


Down syndrome with microgranular variant of acute promyelocytic leukemia in a child: a case report.

Jain D, Singh T, Arora P - J Med Case Rep (2007)

Photomicrograph of bone marrow biopsy showed hypercellular marrow infiltrated by sheets of blasts and promyelocytes and marked depression of normal haematopoiesis, H&E ×600.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2211491&req=5

Figure 3: Photomicrograph of bone marrow biopsy showed hypercellular marrow infiltrated by sheets of blasts and promyelocytes and marked depression of normal haematopoiesis, H&E ×600.
Mentions: A five-year-old female child, a known case of DS, presented with a history of gum bleeding, tarry stools and hematemesis of five days duration. On physical examination, she was pale and had petechiae, bleeding gums and hepatomegaly. There was an enlarged submandibular lymph node. Her coagulogram studies were unremarkable. Serum fibrinogen levels were within normal limits (2.0 g/l); and tests for fibrin degradation products and D-dimer were also negative. Hemogram findings were as follows: Hb 5 g/dl; WBC 80 × 103/l; and platelets 12 × 109/l. The peripheral smear demonstrated an increased number of WBCs, neoplastic promyelocytes and occasional blasts (90%) with high nuclear-cytoplasmic ratio and conspicuous nucleoli. These promyelocytes had markedly lobulated and invaginated nuclei. The cytoplasm of the cells contained no clearly recognizable granules but showed occasional Auer rods (Fig 1a). The red cells showed mild anisocytosis with a few macrocytes. A bone marrow aspirate and biopsy was performed with the following differential: 70% promyelocytes which had a morphology similar to those seen in the peripheral blood; 23% blasts; 5% myelocytes; and 2% lymphocytes. Normal hematopoiesis was suppressed (Fig 1b). The promyelocytes were strongly positive for myeloperoxidase (MPO) stain (Fig 2). Periodic acid Schiff's stain was predominantly negative except for fine granular positivity in an occasional promyelocyte. Unfortunately, conventional cytogenetic analysis could not be performed in this case due to unavailability of fresh blood or marrow sample after the diagnosis, as the patient left against medical advice. However, immunophenotypically these cells were strongly positive for anti MPO stain. A trephine biopsy showed hypercellular marrow infiltrated by sheets of blasts and promyelocytes and a marked depression of normal hematopoiesis (Fig 3). Based on the morphology and cytochemical analysis, a diagnosis of AML-M3v was made. All-trans retinoic acid (ATRA) with chemotherapy was prescribed. However, the patient left against medical advice. Therefore, the final outcome could not be ascertained.

Bottom Line: Acute promyelocytic leukemia (APL) accounts for less than 10% of pediatric AML.She came to our hospital with bleeding manifestations.Based on this morphology and cytochemistry, a diagnosis of APL microgranular variant (M3v) was made.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pathology, Maulana Azad Medical College, New Delhi, India. deepalijain76@gmail.com.

ABSTRACT

Background: Acute promyelocytic leukemia (APL) accounts for less than 10% of pediatric AML. Cases of APL in Down syndrome (DS) have been described in the literature rarely and it is rarer still to find the microgranular variant (M3v) of APL in trisomy 21 patients.

Case presentation: We present a case of a five-year-old female with Down syndrome diagnosed with acute promyelocytic leukemia (APL). She came to our hospital with bleeding manifestations. Blood and bone marrow examination revealed promyelocytes showing a few fine granules and occasional Auer rods. Based on this morphology and cytochemistry, a diagnosis of APL microgranular variant (M3v) was made.

Conclusion: This case report emphasizes the importance of a high index of suspicion in the diagnosis of acute promyelocytic leukemia microgranular variant in Down syndrome.

No MeSH data available.


Related in: MedlinePlus