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Inui, H., Oh, K.S., Nadem, C., Ueda, T., Khan, S.G., Metin, A., et al. (2008) Xeroderma Pigmentosum-Variant Patients from America, Europe, and Asia. Journal of Investigative Dermatology, 128, 2055-2068.
https://doi.org/10.1038/jid.2008.48

has been cited by the following article:

• TITLE: Xeroderma Pigmentosum and Acute Lymphoblastic Leukemia: A Case Report

  AUTHORS: Hasnae Elhaddadi, Ayyad Ghanam, Aziza Elouali, Abdeladim Babakhouya, Maria Rkain, Noufissa Benajiba

  KEYWORDS: Xeroderma Pigmentosum, Acute Lymphoblastic Leukemia, Bone Marrow, Complex Karyotype, Chemotherapy

  JOURNAL NAME: Open Access Library Journal, Vol.11 No.5, May 27, 2024

  ABSTRACT: Background: Xeroderma pigmentosum (XP) is a group of rare diseases resulting in most cases from a dysfunction of nucleotide excision repair (NER). It is characterized by extreme hypersensitivity to ultraviolet rays and predisposes to malignant skin tumors that can appear as early as childhood. XP is rarely associated with internal neoplasms such as acute lymphoblastic leukemia. Case Report: A 5-year-old Moroccan Girl, a xeroderma pigmentosum patient, was diagnosed with acute lymphoblastic leukemia with a complex karyotype. The hemogram revealed a non-regenerative pancytopenia. Peripheral blood smear confirmed pancytopenia and revealed the presence of 70% blast cells. Bone marrow aspiration revealed infiltration by 94% granular morphological blast cells with a lymphoid aspect. Immunophenotyping of blasts was in favor of ALL type B. The patient was treated with chemotherapy according to the Protocol for Acute Lymphocytic Leukemia for 32 months. End-of-chemotherapy explorations were without anomaly. The patient declared a complete remission 2 years ago. Conclusion: The management of these patients remains a challenge. Studies focusing on xeroderma pigmentosum patients developing hematological malignancies are necessary to better understand the most appropriate strategies and precautions for this specific case.