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一个罕见的PDGFRA阳性慢性异osinophilic白血病病例

Kalpana Bothale1, Akanksha Salkar2, Amit Salkar3

  • 1Department of Pathology, NKP Salve Institute of Medical Sciences and Research Center, Nagpur, Maharashtra, India.

Indian journal of pathology & microbiology
|October 18, 2024
PubMed
概括

本病例报告详细介绍了一例罕见的慢性乙性白血病 (CEL),该病例发生在一名49岁的男性身上. 患者出现了多器官损伤,突出了诊断方面的挑战和罕见的临床表现CEL.

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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...