Case Report: Extramedullary Acute Promyelocytic Leukemia: An Unusual Case and Mini-Review of the Literature

Abstract

BackgroundAcute promyelocytic leukemia (APL) constitutes a serious hematological emergency necessitating rapid diagnosis and therapy to prevent lethal bleedings resulting from APL-induced thrombocytopenia and coagulopathy. Atypical manifestations of APL, such as extramedullary disease at first presentation, pose diagnostic challenges and delay the onset of appropriate therapy. Nevertheless, extramedullary manifestations of APL are mostly accompanied by blood count alterations pointing to an underlying hematological disease. In this report, we present the first case of APL bearing close resemblance to a metastasized laryngeal carcinoma with normal blood counts and absent coagulopathy.Case PresentationA 67-year-old man with a previous history of smoking was admitted to our hospital with progressive hoarseness of voice, odynophagia, dysphagia and exertional dyspnea. Laryngoscopy revealed a fixed right hemi larynx with an immobile right vocal fold. Imaging of the neck via magnetic-resonance imaging (MRI) and positron emission tomography–computed tomography (PET/CT) with F-18-fluordeoxyglucose (FDG) showed a large hypermetabolic tumor in the right piriform sinus and tracer uptake in adjacent lymph nodes, highly suspicious of metastasized laryngeal carcinoma. Surprisingly the histological examination revealed an extramedullary manifestation of acute promyelocytic leukemia. Remarkably, blood counts and coagulation parameters were normal. Moreover, no clinical signs of hemorrhage were found. PML-RARA fusion was detected in both laryngeal mass and bone marrow. After diagnosis of APL, ATRA-based chemotherapy was initiated resulting in complete remission of all APL manifestations.ConclusionsThis is the first case report of APL initially presenting as laryngeal chloroma. Additionally, we performed a comprehensive literature review of previously published extramedullary APL manifestations. In aggregate, a normal blood count at first presentation constitutes an extremely rare finding in patients initially presenting with extramedullary APL manifestations.

Spinal myeloid sarcoma presenting as initial symptom in acute promyelocytic leukemia with a rare cryptic PLZF::RARα fusion gene: a case report and literature review

“…The previous case was a 56-year-old Korean man characterized by APL and spinal MS ( 37 ). Even in classical APL, only around thirty cases with MS have been reported thus far ( 3 – 6 ). In addition, a recent report by Wang, Y., et al.…”

Sarcoma Mieloide como apresentação de recaída precoce de Leucemia Promielocítica Aguda: uma manifestação rara – relato de caso e revisão de literatura

“…[11,20,25] A LPA é considerada LMA de risco favorável, com descrição de taxa de remissão maior que 90% e taxa de sobrevida global em 5 anos superior a 80%. [1,2,4,26] Anteriormente classificada como LMA M3 pela classificação da FAB (French-American-British), atualmente é classificada pela Organização Mundial da Saúde (OMS) como LMA com anormalidade genética recorrente: t(15;17)(q22;q12), uma translocação cromossômica balanceada entre os braços longos dos cromossomos 15 e 17, que ocorre em 90% dos casos. [4,9,11,25,26] Essa translocação origina o gene de fusão híbrido PML-RARa (Promyelocytic Leukemia Protein -Retinoic Acid Receptor Alfa), que age como potente repressor de transcrição, suprimindo diversos genes envolvidos na diferenciação da linhagem mieloide.…”

“…Dessa forma, há um bloqueio da maturação das células mieloides, com expansão clonal de promielócitos, que se acumulam na medula óssea. [4,8,12] Essa mutação genética se tornou alvo de tratamento na LPA, com as medicações mais recentes, ATRA (ácido all-trans retinoico) e ATO (trióxido de arsênico), o que modificou a história natural da doença ao proporcionar maior taxa de cura.…”

“…[12] A trombocitopenia, associada à hipofibrinogenemia e à Brazilian Journal of Health Review, Curitiba, v. 7, n. 1, p. 6805-6817, jan./feb., 2024 coagulação intravascular disseminada, representa um sério risco para os pacientes com LPA, que necessitam de intervenção precoce para prevenir sangramentos cerebrais ou pulmonares letais. [4] Manifestações extramedulares, como sarcoma mieloide, ocorrem raramente na LPA e estão associadas a pior prognóstico. [2] Há descrição de poucos casos em literatura.…”

“…[2] Há descrição de poucos casos em literatura. [4] Os sítios extramedulares mais envolvidos na LPA são o Sistema Nervoso Central (SNC) e a pele. [3,6,7,13,18] O SM pode ocorrer sem doença medular concomitante, o que dificulta o diagnóstico.…”