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CASE REPORT Table of Contents   
Year : 2009  |  Volume : 52  |  Issue : 2  |  Page : 255-256
Pseudo Chediak-Higashi anomaly in acute myelomonocytic leukemia

Department of Hematology, IRCH Building, All India Institute of Medical Sciences, New Delhi - 110 029, India

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Pseudo Chediak-Higashi anomaly in acute leukemia is a rarely described entity. The significance of this intriguing morphological finding largely remains unknown, although some authors have predicted a poorer outcome in such cases because of a higher susceptibility to fulminant infections. Our case also had a fatal outcome.

Keywords: Pseudo Chediak-Higashi anomaly, leukemia, prognosis

How to cite this article:
Rao S, Kar R, Saxena R. Pseudo Chediak-Higashi anomaly in acute myelomonocytic leukemia. Indian J Pathol Microbiol 2009;52:255-6

How to cite this URL:
Rao S, Kar R, Saxena R. Pseudo Chediak-Higashi anomaly in acute myelomonocytic leukemia. Indian J Pathol Microbiol [serial online] 2009 [cited 2022 Jan 24];52:255-6. Available from: https://www.ijpmonline.org/text.asp?2009/52/2/255/48937

   Case Report Top

Recently, we came across a case of a 22-year-old male patient presenting with complaints of fever, pallor and generalized weakness for 7 days. There was history of bleeding from the gums and nose for the last 5 days. On physical examination, there was marked pallor but no hepatosplenomegaly or lymphadenopathy. Initial laboratory investigations revealed hemoglobin (Hb) of 8 g/dL, total leukocyte count (TLC) of 1.3 × 10 9 /L (on a manual differential count; 43 polymorphs, 5 lymphocytes and 2 monocytes out of 50 cell count) and platelet count of 66 × 10 9 /L. A provisional diagnosis of aplastic anemia was made and bone marrow examination was advised. The bone marrow aspirate, however, was hypercellular and showed 68% blasts, the rest being maturing cells, including promyelocytes, myelocytes, metamyelocytes, neutrophils, monocytes and eosinophils. Few blasts showed  Auer rods More Details. The blasts were positive for myeloperoxidase (MPO), Sudan black (SBB), non-specific esterase (NSE) and combined chloracetate with α-naphthyl acetate esterase (NASDC). Periodic acid Schiff (PAS) showed granular positivity. About 10% of the blasts revealed variable sized (2-4 µ), round to oval, eosinophilic, hyaline structures, many of which showed a central pallor zone [Figure 1]. Some of the granules appeared to be in vacuoles, giving them a haloed appearance. These coarse granules were not seen in any other type of cell either in the bone marrow or in the peripheral smear. These granules showed positivity for MPO, SBB and PAS and were negative for NSE. Bone marrow biopsy showed similar granules [Figure 2]. A final diagnosis of acute myelomonocytic leukemia with Pseudo Chediak-Higashi anomaly (CHA) was made. Flow cytometric evaluation showed positivity for CD13, CD33, CD14, CD7 and HLA DR. Conventional cytogenetics showed a normal karyotype (46XY). Fluorescent in situ hybridization was negative for t8; 21, t15; 17 and Inversion16. The patient was started on combined chemotherapy (3 + 7) with cytosine arabinoside, vincristine and daunorubicin. He was doing well till day +8, when he started having high-grade persistent fever not responding to antipyretics and broad-spectrum antibiotics (metrogyl, amikacin). On examination, he was found to have a blackish swelling on the upper left gingiva, with tenderness on the left maxillary sinus. A computed tomography (CT) scan of the chest and the maxilla showed ground glass nodular opacity with halo compatible with fungal pneumonia and fungal sinusitis. He was started on injection amphotericin B but showed no improvement in his condition. After a week of further worsening, he had to be intubated and put on ambu-bag ventilation. At that time, his blood counts were: Hb 8.5g/dL, TLC 1 × 10 9 /L (with absolute neutrophil count of 20) and platelet count 20 × 10 9 /L. The patient died on day +20 with fungal pneumonia and sepsis.

The presence of large, round, eosinophilic granules in the leukemic cells was first described by Didisheim et al . [1] in 1964 in a case of acute promyelocytic leukemia. In 1974, VanSlyck and Rebuck [2] described similar granules in the leukemic cells of two patients with acute myelomonocytic leukemia and termed this "The Pseudo Chediak-Higashi anomaly of Acute Leukemia" because of the resemblance of the granules to the ones seen in the inherited CHA. Symes et al. [3] showed similar granules in the bone marrow biopsy section as seen in our case also. Pseudo CHA has been reported in acute myeloid leukemia (AML), [4] acute promyelocytic leukemia, [5] acute myeloid leukemia of childhood [6] and chronic myeloid leukemia with myelofibrosis. [7]

Electron microscopic studies have suggested that these giant granules are formed by the fusion of azurophilic granules. However, unlike the granules in CHA, which are giant lysosomal granules, these contain numerous very thin structures resembling Auer bodies. [8] Claire [9] proposed that these granules should be considered a morphological variant of Auer bodies. Tulleez et al. [8] postulated that one should consider this type of leukemia as a variant of acute promyelocytic leukemia because of the high chance of associated disseminated intravascular coagulation (DIC). A rare translocation has been reported [t (10; 11) (p13; q14)] with CHA in acute monoblastic leukemia associated with DIC. [10] Some studies have found a strong correlation of CD2 expression in AML with pseudo CHA. [11] However, no such (CD2) expression was seen in our case. Only two such cases have been reported previously from India to the best of our knowledge. [12],[13]

Because of the rarity of the condition, it is difficult to generalize about its clinical significance. However, most patients have been reported to have short survival times either due to fulminant infections or refractory DIC. [1],[2],[3],[4],[8] On the other hand, a review of pediatric AML suggests that the patients with pseudo CHA do no worse than those without these granules in their leukemic cells. [7] Our case, however, suffered from uncontrolled fungal pneumonia with sepsis and died of the same. It may still be difficult to put the blame solely on pseudo CHA as severe neutropenia may easily be the prime culprit. In conclusion, pseudo CHA is a rare and interesting morphologic finding in acute leukemias. The exact clinical significance, however, still remains largely unknown.

   References Top

1.Didisheim P, Trombold JS, Vandervoot RL, Mibishan RS. Acute promyelocytic leukemia with fibrinogen and factor V deficiencies. Blood 1964;23:717-28.   Back to cited text no. 1    
2. Van Slyck EJ, Rebuck JW. Pseudo-Chediak-Higashi anomaly in acute leukemia. Am J Clin Pathol 1974;62:673-8.   Back to cited text no. 2    
3. Symes PH, Williams ME, Flessa HC, Srivastava AK, Swerdlow SH. Acute Promyelocytic leukemia with the Pseudo-Chediak-Higashi anomaly and molecular documentation of t (15; 17) chromosomal translocation. Am J Clin Pathol 1993;99:622-7.   Back to cited text no. 3    
4. Efranti P, Nir E, Kaplan H, Dvilanski A. Pseudo-Chediak-Higashi anomaly in acute myeloid leukemia. Acta Haematol 1979;61:264-71.   Back to cited text no. 4    
5. Toolis F, Calverley P, Parker AC. Pseudo-Chediak-Higashi anomaly in promyelocytic leukemia associated with intravascular coagulation. Scand J Haematol 1978;21:283-6.   Back to cited text no. 5    
6. Aonuma K, Komiyama A, Akabane T. Pseudo-Chediak-Higashi anomaly in acute myeloid leukemia (M2) of childhood. Acta Pediatr Jpn 1990;32:651-5.  Back to cited text no. 6    
7.Tsai LC, Tsai CC, Ladd DJ. Pseudo-Chediak-Higashi anomaly in chronic myelogenous leukemia with myelofibrosis. Am J Clin Pathol 1977;67:608-9.   Back to cited text no. 7    
8. Tulliez M, Vernant JP, Breton-Gorius J, Imbert M, Sultan C. Pseudo-Chediak-Higashi anomaly in a case of acute myeloid leukemia: Electron microscopic studies. Blood 1979;54:863-71.   Back to cited text no. 8    
9. Payne CM, Harrow EJ. A cytochemical and ultra structural study of acute myelomonocytic leukemia exhibiting the Pseudo-Chediak-Higashi anomaly of leukemia and splinter-type auer rods. Am J Clin Pathol 1983;80:216-23.  Back to cited text no. 9    
10.Ma SK, Yip SF, Wan TS, Shek TW, Ching LM, Yeung YM. Acute myeloid leukaemia with giant granules association with t (10; 11) (p13; q14) and disseminated intravascular coagulation. Clin Lab Haematol 2000;22:303-5.  Back to cited text no. 10  [PUBMED]  [FULLTEXT]
11.Chang H, Yi QL. Acute myeloid leukemia with pseudo-Chèdiak-Higashi anomaly exhibits a specific immunophenotype with CD2 expression. Am J Clin Pathol 2006;125:791-4.  Back to cited text no. 11  [PUBMED]  
12.Powari M, Varma N, Varma S, Komal HS. Pseudo-Chediak Higashi anomaly in an Indian patient with acute myeloid leukemia (AML-M2). Am J Hematol 2000;65:324-32.  Back to cited text no. 12  [PUBMED]  [FULLTEXT]
13.Ahluwalia J, Kumar V, Trehan A, Marwaha RK, Garewal G. The pseudo-Chediak-Higashi anomaly: An unusual staining pattern in an Indian child with acute myeloid leukemia. Pediatr Hematol Oncol 2004;21:199-202.  Back to cited text no. 13  [PUBMED]  [FULLTEXT]

Correspondence Address:
Seema Rao
E-28, Ayurvigyan Nagar, August Kranti Marg, New Delhi - 110 049
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.48937

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  [Figure 1], [Figure 2]

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