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Menin-KMT2A inhibitors (MENi) are a novel class of small-molecule inhibitors in development in KMT2Ar and NPM1 m acute myeloid leukaemias (AML) and a notorious cause of differentiation syndrome (DS). A 71 years old woman received the MENi revumenib (REV) for relapsed/refractory NPM1 m AML. After 2 weeks of treatment, she developed fever and a violaceous inflammatory cutaneous lesion of the right cheek, revealing REV induced pyoderma gangrenosum (PG)-like neutrophilic dermatosis (ND). Isolated reports of all-trans retinoic acid induced DS-related ND have been published. However, to our knowledge, this is the first report ever of MENi induced PG-like ND and cutaneous involvement of DS. This report highlights the fact that ND such as PG, as a manifestation of DS, are a possibly severe adverse effect of MENi., Competing Interests: Declarations. Ethical approval: This study is in accordance with the ethical standards of our institution and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent: Informed consent was obtained from the patient. Competing interests: The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Scedosporium spp. and Lomentospora prolificans are emerging non-Aspergillus filamentous fungi. The Scedosporiosis/lomentosporiosis Observational Study we previously conducted reported frequent fungal vascular involvement, including aortitis and peripheral arteritis. For this article, we reviewed 7 cases of Scedosporium spp. and L. prolificans arteritis from the Scedosporiosis/lomentosporiosis Observational Study and 13 cases from published literature. Underlying immunosuppression was reported in 70% (14/20) of case-patients, mainly those who had solid organ transplants (10/14). Osteoarticular localization of infection was observed in 50% (10/20) of cases; infections were frequently (7/10) contiguous with vascular infection sites. Scedosporium spp./Lomentospora prolificans infections were diagnosed in 9 of 20 patients ≈3 months after completing treatment for nonvascular scedosporiosis/lomentosporiosis. Aneurysms were found in 8/11 aortitis and 6/10 peripheral arteritis cases. Invasive fungal disease--related deaths were high (12/18 [67%]). The vascular tropism of Scedosporium spp. and L. prolificans indicates vascular imaging, such as computed tomography angiography, is needed to manage infections, especially for osteoarticular locations.

Pregnancy epulis is a common and benign vascular tumor that reaches 5% of pregnant women; it respects adjacent structures, such as bone, teeth, and sinus mucosa. This paper reports a rare case of extensive pregnancy epulis with alveolar bone lysis, tooth displacement, and sinusal floor lysis. A 23-year-old pregnant woman with 23 weeks of amenorrhea was referred to the Department of Oral and Maxillofacial Surgery with a large maxillary mass and spontaneous bleeding, causing difficulty in speaking and swallowing. Due to the rapid development, the stage of pregnancy, and the need for a sure diagnosis of a benign lesion, a surgical excision was performed. After 1 month, the patient recovered from swallowing and speaking. Pregnancy epulis can be locally aggressive and involve alveolar bone. Biopsy allows to confirm the diagnosis. Surgery during pregnancy or birth waiting should be well ponderated in correlation with the size of the tumor and the delay to birth., (© 2023 Japan Society of Obstetrics and Gynecology.)

Gorham-Stout disease (or "vanishing bone" disease) is a rare mono or polyostotic disease of unknown etiology, characterized by intraosseous angiomatous proliferation leading to bone resorption. We report the case of a 17-year-old woman presenting with symptomatic osteolytic lesions of the frontal vault. Imaging was suggestive of Gorham-Stout disease without argument for other diagnoses. An unusual evolution of the "vanishing bone" lesions was observed on the scan after one year, with a full recovery of the lytic lesions. This report shows for the first time a spontaneous restitutio ad integrum of bone matrix in Gorham-Stout disease., (Copyright © 2022. Published by Elsevier Masson SAS.)

Intraosseous verrucous carcinoma of the mandible is a rare situation often confused with chronic osteomyelitis. Despite the low aggressively of the tumor, prognosis is poor because of delayed diagnosis. We report 3 cases, from three different hospitals, initially diagnosed with a chronic osteomyelitis of the mandible after wisdom extraction. Imaging, bacteriological and histological samples supported each time this interpretation. The 3 patients worsened with intraosseous extension of the lesions and outflow of whitish and purulent debris. Only extensive resection with mandibulectomy allow the pathologists to identify the tumor. Adjuvant radiotherapy or radiochemiotherapy followed the surgery. One patient is in clinical remission. In front of mandible lesion resistant to antibiotic therapy and sequestrum resection, atypical squamous cell carcinoma must be evoked. MRI and CT-scan are not able to distinguish osteomyelitis and intraosseous verrucous carcinoma. Presence of whitish lysed and debris of keratin must draw the attention. Firm evidence must be provided to the pathologist but samples should be wide and thick., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Rhabdomyosarcoma (RMS) encompasses a heterogenous collection of tumors in which new groups have recently been identified that improved the World Health Organization (WHO) classification. While performing RNA-sequencing in our routine practice, we identified 3 cases of well-differentiated RMS harboring new fusion genes. We also analyzed these tumors through array-comparative genomic hybridization. Clinically, these tumors were deep paraspinal tumors, occurring in neo-nat and young children. The patients underwent resection and adjuvant therapy. At the time of last follow-up (ranging from 12 to 108 mo), they were alive without disease. Histologically, these tumors consisted of well-differentiated rhabdomyoblastic proliferations with nuclear atypia, infiltrative borders, and a specific growth pattern. These tumors harbored new fusion genes involving SRF and either FOXO1 or NCOA1. We compared the expression profiles of these 3 tumors to the expression data of a series of 33 skeletal muscle tumors including embryonal RMSs, alveolar rhandomyosarcomas, RMSs with VGLL2 fusions, RMSs with the myoD1 mutation, EWSR1/FUS-TFCP2 epithelioid and spindle cell RMSs of the bone, and rhabdomyomas with PTCH1 loss. According to clustering analyses, the 3 SRF-fused tumors formed a distinct group with a specific expression profile different from that of the other types of skeletal muscle tumors. Array-comparative genomic hybridization showed a recurrent gain of chromosome 11. These 3 tumors define a new group of RMS associated with a fusion of the SRF gene. FOXO1 rearrangements, usually used to confirm the diagnosis of alveolar RMS and identify poor-outcome RMSs, were identified in a nonalveolar RMS for the first time.

Rheumatoid arthritis (RA) has a negative impact on muscle mass, and reduces patient's mobility and autonomy. Furthermore, RA is associated with metabolic comorbidities, notably in lipid homeostasis by unknown mechanisms. To understand the links between the loss in muscle mass and the metabolic abnormalities, arthritis was induced in male Sprague Dawley rats (n = 11) using the collagen-induced arthritis model. Rats immunized with bovine type II collagen were compared to a control group of animals (n = 11) injected with acetic acid and complete Freund's adjuvant. The clinical severity of the ensuing arthritis was evaluated weekly by a semi-quantitative score. Skeletal muscles from the hind limb were used for the histological analysis and exploration of mitochondrial activity, lipid accumulation, metabolism and regenerative capacities. A significant atrophy in tibialis anterior muscle fibers was observed in the arthritic rats despite a non-significant decrease in the weight of the muscles. Despite moderate inflammation, accumulation of triglycerides (P < 0.05), reduced mitochondrial DNA copy number (P < 0.05) and non-significant dysfunction in mitochondrial cytochrome c oxidase activity were found in the gastrocnemius muscle. Concomitantly, our results suggested an activation of the muscle specific E3 ubiquitin ligases MuRF-1 and MAFbx. Finally, the adipose tissue from the arthritic rats exhibited decreased PPARγ mRNA suggesting reduced adipogenic capacities. In conclusion, the reduced adipose tissue adipogenic capacity and skeletal muscle mitochondrial capacity are probably involved in the activation of protein catabolism, inhibition of myogenesis, accumulation of lipids and fiber atrophy in the skeletal muscle during RA., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Mucosal melanoma is a rare malignant disease developed from melanocyte. We report the case of a patient with nasal cavity mucosal melanoma with a primary clinical and histological diagnosis of malignant lentigo with mucosal spreading. The presence of a c-Kit mutation, in a second lecture and the evolving nature of the lesion, reorientated the diagnosis of malignant lentigo to mucosal melanoma with skin extension. Extensive surgical resection and foramen free flap with costal graft reconstruction may have a local control of the disease. Yet, after one year, a regional evolution involving a parapharyngeal node was treated by stereotaxic radiotherapy. After 5 years, the patient was considered in clinical and radiological remission. Malignant lentigo with mucosal extension is a very rare situation, this diagnoses must be evoqued after setting mucosal melanoma diagnosis., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Introduction: This study aimed at comparing thyroid cancer staging when taking into account the differences between the "T" assessment" using ultrasound (US) and histopathological measurements., Material and Methods: This retrospective study included all consecutive differentiated follicular thyroid cancer (DTC) and medullary thyroid cancer (MTC) patients who underwent postoperative histopathological staging assessment at a single institution. Anaplastic thyroid carcinomas were excluded from the present study. Each malignant thyroid nodule was precisely evaluated by measuring its long axis using both US and gross specimen histopathological examination. T stage classification was attributed to each tumor as regards US (solely according to the tumor dimension) and histopathology: (1) solely according to the tumor dimension and (2) according to the tumor dimension and extrathyroidal extension features when present., Results: Retrospective comparison between US and histopathology size of the operated thyroid nodules showed a mean diminution of 7.52% of the tumor long axis. Tumors ≤10 mm at histopathological examination showed a larger decrease in size of 13% (p = 0.054, statistically significant) compared to the US measurements. Ten out of 72 (13.8%) patients showed final T downstaging in comparison to US assessment: (US) T2 to T1b in 6 patients (1 MTC) and (US) T1b to T1a in 4 patients (1 MTC). Two (2.9%) DTC patients were downstaged from stage 2 to stage 1., Conclusion: Precise thyroid tumor US measurement may differ significantly from that obtained by histopathological assessment, which may result in a different TNM staging and subsequent patient management.

Background: Thyroid nodules presenting ultrasonographic (US) findings suspicious for malignancy should undergo fine-needle aspiration and further cytologic analysis according to the Bethesda 2010 classification. Benign necrotic thyroid nodules may also harbor suspicious US features as follows: ill-defined margins, taller than wide aspect, strong hypoechogenicity, high stiffness index on elastography examination, and reported worrisome cytologic or histologic alterations., Methods and Results: We report the case of a benign thyroid nodule showing shrinkage over time and harboring malignant US features. Fine-needle aspiration cytology examination showed necrosis and no malignant cells., Conclusions: Precise Doppler US analysis of the nodule and its evolution over time may limit the risk of false-positive diagnosis of thyroid malignancy.

Diagnosis of venous jugular invasion by means of traditional imaging is very rarely reported in the literature. Doppler ultrasound definitively helps to diagnose the tumor thrombus, the extent, and helps in redefining the TNM stage of such an aggressive thyroid tumor.

Incidental diagnosis of thyroid nodules is very common on adult neck ultrasonography examination. Thyroid calcifications are encountered in benign thyroid nodules and goiters as well as in thyroid malignancy. Depiction and characterization of such calcifications within a thyroid nodule may be a key element in the thyroid nodule diagnosis algorithm. The goal of this paper is to display typical radio-pathological correlations of various thyroid pathologies of benign and malignant conditions in which the calcification type diagnosis can play a key role in the final diagnosis of the thyroid nodule., (© 2016 Wiley Periodicals, Inc.)

Objective: The purpose of this article is to highlight the various sonographic characteristics that should help to differentiate a restructured benign collapsed thyroid nodule from histologically proven thyroid carcinoma by different imaging means, including Doppler sonography, and fine-needle aspiration cytologic analysis., Conclusion: Benign thyroid nodules may display morphologic changes over time, which can have misleading sonographic features suggestive of malignancy. Precise knowledge of certain sonographic imaging features, such as regular eggshell calcifications, peripheral hypoechoic or hypoechoic rim, posterior shadowing, and absence of intranodular vascularization, and meticulous comparison with previous images showing thyroid nodule shrinkage over time are useful for reaching the correct final diagnosis. Fine-needle aspiration cytologic assessment of such initially suspicious thyroid nodules and sonographic follow-up contribute to establishing the final diagnosis of benign thyroid findings. Knowledge of the elements described should help to identify the so-called mummified thyroid nodule and avert surgical excision.

Incidental diagnosis of thyroid nodules is very common on adult neck ultrasonography (US) examination. They are primarily assessed on size and greyscale ultrasound criteria such as hypoechogenicity, taller than wide, spiculated margins and calcifications. In difficult situations Doppler US features may improve tumour characterisation and staging., (© 2015 The Royal Australian and New Zealand College of Radiologists.)

Purpose: To report and evaluate qualitative elastography patterns by using gray-scale and Doppler ultrasound (US) in patients presenting with benign thyroid nodules and to evaluate the reproducibility of US elastography examinations., Materials and Methods: Institutional review board approval was obtained, and all patients provided informed consent. Over a 3-month time period, all consecutive adult patients were referred to our institution to undergo a thyroid nodule fine-needle aspiration biopsy (FNAB) procedure. Patients presenting with benign cytology according to the Bethesda 2008 classification were prospectively enrolled in the study. Each thyroid nodule was assessed by using gray-scale, Doppler US, and elastography acquisitions by a single operator (A. L.). Multiple elastography acquisitions per thyroid nodule were performed and elastography scorings of the nodules were compared with each other., Results: Nineteen patients (16 women and 3 men, mean age 58 years) with 22 thyroid nodules were included in the present study. Elastographic patterns 1, 2, and 3 were reported (23% nodules showed pattern 3). The elastography pattern showed a strong variability in 13 nodules (59%). The elastography acquisition result variability involved the "malignant" pattern 3 in 36% of cases., Conclusion: Almost one-third of benign thyroid nodules displayed pattern 3 on qualitative US elastography. The intra-observer variability of the benign thyroid elastography scoring is wide, thus limiting the thyroid nodule US examination accuracy. In FNAB-proven benign thyroid nodules, elastography pattern 3 is frequent and cannot be used as a strong indicator of thyroid malignancy.

A 3 1/2-year-old girl had a subepidermal bullous eruption with immunopathologic features that were consistent with epidermolysis bullosa acquisita or bullous systemic lupus erythematosus. This report highlights the difficulty encountered in distinguishing between epidermolysis bullosa acquisita and other bullous disorders that involve the dermoepidermal junction and the need for modern immunologic investigations in the diagnosis of bullous diseases in children.