Pseudo-Chediak-Higashi Anomaly in Acute Myeloid Leukemia With t (8;21)

Bozkaya, İkbal Ok; Yaralı, Neşe; Saç, Rukiye Ünsal; Tavil, Betül; Kara, Abdurrahman; Azık, Fatih Mehmet; Tunç, Bahattin

doi:10.1097/mph.0b013e31820db7d7

Cited by 4 publications

(5 citation statements)

References 3 publications

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“…Previously reported AML cases with PCH granules showed a poor prognosis. 4,6,10 Indeed, our case developed PCH granules at the time of early bone marrow relapse. However, he (fortunately) responded well to re-induction chemotherapy and achieved a second molecular CR.…”

Section: Discussionmentioning

confidence: 58%

“…Although AML cases with PCH granules have been reported, [3][4][5][6] it is interesting that our case relapsed with PCH granules accompanied with C-MYC amplification, both of which were absent at initial diagnosis. Thus, our case supports the hypothesis that C-MYC amplification in AML might be related to formation of PCH granules.…”

Section: Discussionmentioning

confidence: 65%

“…1 PCH granules are myeloperoxidase (MPO)-positive and formed by fusion of small primary granules. 2 Although some AML cases with PCH granules have been reported, [3][4][5] it is not clear how PCH granules are generated and related to the genetic background. Golovleva et al reported a case of AML-M2 with PCH granules and C-MYC amplification caused by double minutes of chromosomes, indicating that C-MYC expression might play a pathophysiological role in PCH granule formation.…”

Section: Introductionmentioning

confidence: 99%

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Relapsed RUNX1-RUNX1T1-positive acute myeloid leukemia with pseudo-Chediak-Higashi granules and C-MYC amplification

Kondo

Kanayama

Matsumura

et al. 2022

Preprint

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A 7-year-old boy was diagnosed with RUNX1-RUNX1T1-positive acute myeloid leukemia. Although he achieved complete remission (CR) after conventional chemotherapy, he experienced relapse 6 months after completing initial treatment. The cytoplasm of myeloblasts examined at relapse contained pink giant granules. These myeloperoxidase-positive granules were considered to be pseudo-Chediak-Higashi (PCH) granules. Meanwhile, blasts had acquired genetic alterations such as hypotetraploidy with RUNX1-RUNX1T1 and C-MYC amplification, and a KIT N822K mutation. The patient underwent cord blood transplantation and maintains a second CR. A previous report suggests that C-MYC amplification might be associated with PCH granule formation, and our case supports this hypothesis.

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Section: Discussionmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 65%

Section: Introductionmentioning

confidence: 99%

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Relapsed RUNX1-RUNX1T1-positive acute myeloid leukemia with pseudo-Chediak-Higashi granules and C-MYC amplification

Kondo

Kanayama

Matsumura

et al. 2022

Preprint

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“…The pseudo-Chédiak-Higashi (PCH) anomaly is a large pink or purple cytoplasmic granule that has only been rarely described in acute myeloid leukemia (AML) [1,2,3,4,5,6,7,8,9]. These giant granules are azurophilic and myeloperoxidase positive.…”

Section: Figmentioning

confidence: 99%

Multiple Pseudo-Chediak-Higashi Inclusions Associated with MYC Deletion in a Patient with Acute Myeloid Leukemia

Vargas¹,

Escamilla²,

Morales‐Camacho³

et al. 2014

Acta Haematol

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“…4 Auer rods are also not infrequently present. An association with t(8;21) has been reported in at least three patients, 3,5,6 but no other consistent cytogenetic abnormality has been recognized. This patient is exceptional in that the granules were confined to mature granulocytes.…”

mentioning

confidence: 99%