Details

Autor(en) / Beteiligte

• Castaño-Díez, Sandra
• Guijarro, Francesca
• López-Guerra, Mònica
• Pérez-Valencia, Amanda Isabel
• Gómez-Núñez, Marta
• Colomer, Dolors
• Díaz-Beyá, Marina
• Esteve, Jordi
• Rozman, María

Titel

Infrequent Presentations of Chronic INPM1/I-Mutated Myeloid Neoplasms: Clinicopathological Features of Eight Cases from a Single Institution and Review of the Literature

Ist Teil von

• Cancers, 2024-02, Vol.16 (4)

Ort / Verlag

MDPI AG

Erscheinungsjahr

2024

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• We describe the clinicopathologic features of eight patients with atypical presentation of NPM1-mutated myeloid neoplasms (MN) and review the literature. Initially, we extensively describe the rarest case, a patient diagnosed with chronic eosinophilic leukemia (CEL) with less than 1% bone marrow blasts associated with an NPM1 mutation who progressed to an acute myeloid leukemia (AML). Secondly, we summarize the clinicopathologic features of seven additional cases with infrequent presentation of NPM1-mutated MN, five of them corresponding to CMML and the other two to MDS. Thirdly, we review the literature. Non-acute myeloid neoplasms (MNs) with NPM1 mutations (NPM1mut-MNs) pose a diagnostic and therapeutic dilemma, primarily manifesting as chronic myelomonocytic leukemia (CMML) and myelodysplastic syndromes (MDS). The classification and treatment approach for these conditions as acute myeloid leukemia (AML) are debated. We describe eight cases of atypical NPM1mut-MNs from our institution and review the literature. We include a rare case of concurrent prostate carcinoma and MN consistent with chronic eosinophilic leukemia, progressing to myeloid sarcoma of the skin. Of the remaining seven cases, five were CMML and two were MDS. NPM1 mutations occur in 3–5% of CMML and 1–6% of MDS, with an increased likelihood of rapid evolution to AML. Their influence on disease progression varies, and their prognostic significance in non-acute MNs is less established than in AML. Non-acute MNs with NPM1 mutations may display an aggressive clinical course, emphasizing the need for a comprehensive diagnosis integrating clinical and biological data. Tailoring patient management on an individualized basis, favoring intensive treatment aligned with AML protocols, is crucial, regardless of blast percentage. Research on the impact of NPM1 mutations in non-acute myeloid neoplasms is ongoing, requiring challenging prospective studies with substantial patient cohorts and extended follow-up periods for validation.