More than 95% of patients with acute promyelocytic leukemia (APL) are characterized by the reciprocal translocation t(15;17)(q24;21), which involves the promyelocytic leukemia protein (PML) gene on chromosome 15 and the retinoic acid receptor-α (RARA) gene on chromosome 17, leading to the production of the PML::RARA chimeric gene. Additional chromosomal abnormalities are described in all acute myeloid leukemias and occur in approximately one-third of patients with newly diagnosed APL. Here, we report the case of de novo APL showing the classical t(15;17)(q24;q21), a deletion of the short arm of chromosome 6 (6p), and a noncanonical molecular variant of the PML::RARA transcript. Nevertheless, the patient achieved complete remission after treatment with conventional therapy with all-trans retinoic acid (ATRA) and arsenic trioxide (ATO). Notwithstanding that the molecular pathogenesis of this type of atypical variant still remains unknown, we conclude that this atypical PML::RARA bcr2 fusion gene associated with del(6p) does not seem to alter the effectiveness of combined treatment with ATRA and ATO.

Antiphospholipid syndrome (APS) is a systemic autoimmune disorder characterized by venous or arterial thrombosis and/or pregnancy morbidity in the presence of persistent laboratory evidence of antiphospholipid antibodies (APL). APS can occur as a primary condition but can also occur in the presence of systemic lupus erythematosus (SLE) or other systemic autoimmune diseases such as rheumatoid arthritis (RA) or Sjogren\'s Syndrome. Our case focuses on a 21-year-old female with a history of \"going numb and having no ability to speak\" with a total of approximately 20 such episodes, with no known triggers for these episodes. A hypercoagulable profile was performed and indicated an elevation in lupus anticoagulant (LA), which was also positive at repeat testing after 12 weeks, meeting the criteria for APS. Oral contraceptive pills (OCP) were stopped immediately, and she was started on daily aspirin. When hematology was consulted and evaluated, the patient reported a history of possible transient ischemic attacks (TIA); however, there was no history of deep vein thrombosis (DVT), pulmonary embolism (PE), or miscarriages. Recommendations from hematology were to continue the daily aspirin but did not recommend the addition of anticoagulation therapy. Additional recommendations included avoiding risk factors for thrombosis such as the use of birth control pills, smoking, and a sedentary lifestyle or obesity. Given the young age of our patient, as well as multiple TIA associated with APS secondary to LA, the patient was started on anticoagulation contrary to hematology\'s recommendations.

The triad of weak/absent CD34, negative HLA-DR expression, and positivity to CD117 is pathognomonic for the diagnosis of acute promyelocytic leukemia. However, in rare cases, strong positivity to HLD-DR and CD34 may be noted.

BACKGROUND: Chromosomal rearrangements in addition to t(15;17) have been reported in 25-40% of APL patients, with a large predominance of trisomy 8. Other abnormalities are far less frequent, particularly as ider(17), and the prognostic significance is still unclear.
METHODS: We present the case of a patient with t(15;17)(q22;q21), der(15)t(15;17) and ider(17)(q10)t(15;17)(q22;q21). In particular, the RT-PCR result for PML-RARA of this patient was a false negative and mutational analysis of AML-related genes showed SNP rs2454206 in the TET2 gene and yielded negative findings in other genes including AML1, ASXL1, CEBPA, DNMT3A, FLT3, KIT, NPM1, TP53, and U2AF1. After the early usage of arsenic trioxide combinated with ATRA and vigorous supportive treatment to maintain PLT ≥30×109/L and FIB >1500 mg/L, this patient was under MMR and HCR without any clinical symptoms or signs until now.
CONCLUSIONS: False negative reslults of RT-PCR analysis for PML-RARA are rare in APL and ider(17) is even more infrequent. To our knowledge, this is the first reported case of APL with ider(17) and false negative RT-PCR analysis results. The role of ider(17) in APL is still an ongoing investigation and limited by the small number of published cases. The patient reported here benefited from vigorous supportive treatment during the combination of ATRA and arsenic trioxide in induction chemotherapy and the clinical outcome was favorable.

Acute promyelocytic leukemia (APL) is characterized by the presence of promyelocytic leukemia-retinoic acid receptor α (PML-RARα) fusion gene, which is formed following the specific chromosomal translocation t(15;17)(q22;q21). However, cases with PML-RARα generated by occult t(15;17) which are negative by both cytogenetics and fluorescence in situ hybridization (FISH), are difficult to diagnose, leading to impaired treatment effectiveness. In the present study, we reported a case of a 66-year-old male patient, and bone marrow morphology, flow cytometry and cytogenetics did not support the diagnosis of APL. Molecular techniques, such as reverse-transcription polymerase chain reaction (RT-PCR), showed the existence of a cryptic PML-RARα fusion gene, and sequence analysis revealed a new variable isoform. Hotspot gene mutation analysis showed a biallelic CEBPA mutation. He received IA chemotherapy and all-trans retinoic acid (ATRA) treatment, and finally achieved complete remission. This case report provided valuable insights into the relevance of the correct identification of atypical PML-RARα fusion gene and biallelic CEBPA mutation. Moreover, combination of IA chemotherapy and ATRA treatment suggested a good clinical effect in this atypical PML-RARα.

Intracranial disease is a very rare presentation at diagnosis in acute promyelocytic leukemia (APL). The risk associated with this particular presentation is not accounted for when the current risk stratification is based on peripheral counts. Extra medullary disease in general may challenge this risk stratification that commands initial induction treatment of this potentially fatal disease. Here we discuss a case presented at diagnosis with extensive intracranial base of the skull, clivus and sinus infiltration and heavily infiltrated bone marrow yet with low peripheral blood counts and no peripheral blood blasts. Such cases lack evidence of how to treat.

BACKGROUND: Radial styloid fracture and concomitant first dorsal compartment proximal musculotendinous avulsion is extremely rare injury. This togetherness is difficult to diagnose fully on routine physical examination.
METHODS: In this study, we present a thirty nine year old male patient who suffered musculotendinous avulsion injury of the extensor pollicis brevis (EPB) tendon and abduc- tor pollicis longus (APL) tendon that is rarely accompanied by a closed, non-displaced radial styloid fracture developed following an in-car traffic accident. Diagnosis of avulsion was made with preop- erative magnetic resonance imaging (MRI) and the fracture was fixed with open reduction. The measurements of isometric APL and EPL muscle strength for two thumb were performed using a digital hand dynamometer, no statistically significant difference was found between the muscle strengths of the affected and non-affected thumbs at the postoperative second year follow- up (p > 0.05).
CONCLUSIONS: The literature does not hold enough cases to establish the grounds for hypotheses related to the injury mechanism in the 1 st extensor tendon musculotendinous injuries ac- companying radial styloid fractures. Although the diagnosis of the injury in our case was inadver- tently made with preoperative MRI, the routine application of MRI does not seem to be cost-effec- tive.
CONCLUSIONS: We suggest that checking and assuring the intactness of the 1 st extensor compartment with a gentle traction during surgery should be a routine step in the treatment of radial styloid fractures treated with open reduction.

Arsenic trioxide (ATO), a component of the traditional Chinese medicine arsenic sublimate, promotes apoptosis and induces leukemic cell differentiation. Combined with all-trans-retinotic acid (ATRA), ATO has become the first-line induction therapy in treating acute promyelocytic leukemia (APL). The most common side effects of ATO include hepatotoxicity, gastrointestinal symptoms, water-sodium retention, and nervous system damage. In this report, we present a rare side effect, rhabdomyolysis, in a 68-year-old female APL patient who was treated with ATO. After taking 10 mg ATO daily for 6 days, she presented shortness of breath, myodynia, elevated creatine kinase, and acute renal insufficiency. This report describes the first case of ATO-induced rhabdomyolysis.