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Indolent Angiomatoid Fibrous Histiocytoma Mimicking a Benign Cystic Tumor

by Jiro Ichikawa, Tomonori Kawasaki, Kojiro Onohara, Masanori Wako, Satoshi Ochiai, Tetsuo Hagino and Hirotaka Haro

Diagnostics 2025, 15(1), 115; https://doi.org/10.3390/diagnostics15010115 - 6 Jan 2025

Viewed by 991

Abstract

Angiomatoid fibrous histiocytoma (AFH) is a rare intermediate tumor that is often difficult to diagnose radiologically and pathologically. Herein, we report a case of AFH in the knee that was initially misdiagnosed as a cystic lesion. The tumor was first identified eight years [...] Read more.

Angiomatoid fibrous histiocytoma (AFH) is a rare intermediate tumor that is often difficult to diagnose radiologically and pathologically. Herein, we report a case of AFH in the knee that was initially misdiagnosed as a cystic lesion. The tumor was first identified eight years earlier during the patient’s initial visit, when plain magnetic resonance imaging (MRI) was performed, leading to a diagnosis of a cystic lesion. At the current visit, the tumor had subsequently enlarged, and pain had appeared. Contrast-enhanced MRI was performed at our hospital, revealing enhancement suggestive of a solid tumor. A needle biopsy was performed, raising suspicion of AFH. Wide resection was performed, and AFH was diagnosed using histopathological findings and fluorescence in situ hybridization (FISH). Although there are several characteristic imaging findings of AFH, they are non-specific, and small tumors can be easily overlooked. Furthermore, histopathological findings lack specific immunohistochemical markers, making morphological appearance, combined with FISH findings recently reported as useful, important for preventing misdiagnosis. Since cystic lesions can occur in various locations besides the knee, it is recommended to perform contrast-enhanced MRI for accurate diagnosis when there is an increase in size or the appearance of symptoms, as plain MRI alone may lead to misdiagnosis. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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6 pages, 2865 KiB

Open AccessCase Report

Angiomatoid Fibrous Histiocytoma Initially Misdiagnosed as Elastofibroma Dorsi: A Case Report and Literature Review

by Soyeon Jung

Medicina 2024, 60(11), 1762; https://doi.org/10.3390/medicina60111762 - 27 Oct 2024

Cited by 1 | Viewed by 1669

Abstract

Background and Objectives: Angiomatoid fibrous histiocytoma (AFH) is a rare soft-tissue tumor with a low-grade malignancy. It typically arises in superficial soft tissues of the extremities, head, neck and trunk in children or young adults. Because of its rare entity, it tends [...] Read more.

Background and Objectives: Angiomatoid fibrous histiocytoma (AFH) is a rare soft-tissue tumor with a low-grade malignancy. It typically arises in superficial soft tissues of the extremities, head, neck and trunk in children or young adults. Because of its rare entity, it tends to be confused and misdiagnosed. Materials and Methods: A 12-year-old male presented with a painless mass located on his right upper back. The CT finding showed a 7.3 × 2.8 × 5.4 cm-sized, well-defined heterogeneous soft tissue mass in the right infrascapular area. We performed a complete excision, including the surrounding capsule. Result: The final pathology revealed an AFH of intermediate malignancy. On pathologic examination, the lesion was a 5.8 × 4.5 × 2.6 cm-sized mass with a mitotic count of 12/10 HPF, tumor necrosis of 0% and marked increased cellularity and spindle cell morphology. The immunohistochemical study showed negative for S100 and positive for SMA, focal positive for Ki-67, CD68 and positive for CD99, Desmin staining. During the five years of follow-up period, he did not show any evidence of recurrence. Conclusions: The result was satisfactory. We report a case of AFH of the back initially misdiagnosed as an elastofibroma dorsi (ED) with the review of the literature for this uncommon entity. Full article

(This article belongs to the Special Issue Updates on Plastic and Reconstructive Surgery: Current Management of Skin Cancer)

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5 pages, 2093 KiB

Open AccessCase Report

Primary Pulmonary Myxoid Sarcoma in an Asymptomatic 47-Year-Old Female

by Alex I. Halpern, Mohadese Behtaj, Elham Arbzadeh and Keith D. Mortman

J. Respir. 2024, 4(3), 158-162; https://doi.org/10.3390/jor4030014 - 2 Aug 2024

Cited by 1 | Viewed by 1631

Abstract

Primary pulmonary myxoid sarcoma (PPMS) is a rarely reported, low-grade malignant endobronchial tumor. We describe a case of PPMS in an asymptomatic 47-year-old female. We highlight the clinical and pathologic aspects of PPMS and its relationship with angiomatoid fibrous histiocytoma. Full article

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11 pages, 7814 KiB

Open AccessCase Report

Pulmonary Metastasising Aneurysmal Fibrous Histiocytoma: A Case Report, Literature Review and Proposal of Standardised Diagnostic Criteria

by Fiona Mankertz, Rebecca Keßler, Andrea Rau, Christian Seebauer, Silvia Ribback and Alexandra Busemann

Diseases 2023, 11(3), 108; https://doi.org/10.3390/diseases11030108 - 23 Aug 2023

Cited by 2 | Viewed by 2261

Abstract

An aneurysmal fibrous histiocytoma is a rare cutaneous soft-tissue tumour which accounts for approximately 0.06% of all dermatopathologies. Metastasis is exceedingly uncommon, to the point that there have only been eight reported cases in the scientific literature. We present the case of a [...] Read more.

An aneurysmal fibrous histiocytoma is a rare cutaneous soft-tissue tumour which accounts for approximately 0.06% of all dermatopathologies. Metastasis is exceedingly uncommon, to the point that there have only been eight reported cases in the scientific literature. We present the case of a 25-year-old male with a primary aneurysmal fibrous histiocytoma located in the nuchal region which exhibited rapid growth and abrupt ulceration over a short time span and showed signs of locoregional aggressive infiltration. A subsequent histopathological analysis confirmed the presence of diffuse solid and cystic pulmonary metastases. Further genetic sequencing verified LAMTOR1-PRKCD fusion. This case report seeks to review the existing literature on aneurysmal fibrous histiocytoma, discuss the challenges of differential diagnosis and propose standardised diagnostic criteria. Full article

(This article belongs to the Section Rare Syndrome)

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6 pages, 8702 KiB

Open AccessInteresting Images

Partially Dedifferentiated Primitive Malignant Melanoma with Pseudo-Angiomatous Features: A Case Report with Review of the Literature

by Francesca Ambrogio, Anna Colagrande, Eliano Cascardi, Mauro Grandolfo, Raffaele Filotico, Caterina Foti, Carmelo Lupo, Nadia Casatta, Giuseppe Ingravallo and Gerardo Cazzato

Diagnostics 2023, 13(3), 495; https://doi.org/10.3390/diagnostics13030495 - 29 Jan 2023

Cited by 4 | Viewed by 2573

Abstract

Malignant melanoma (MM) is traditionally known as the “great mime” of human pathology, as it is potentially capable of imitating the most disparate neoplasms. It is known that in addition to the more classic histotypes of MM, there are also rare forms, including [...] Read more.

Malignant melanoma (MM) is traditionally known as the “great mime” of human pathology, as it is potentially capable of imitating the most disparate neoplasms. It is known that in addition to the more classic histotypes of MM, there are also rare forms, including angiomatoid MM. Similarly, it has been amply demonstrated in the literature that MM is capable of dedifferentiating, losing melanocytic lineage markers, constituting a diagnostic challenge for the pathologist. Although 5 cases of primary angiomatoid MM have been described in the literature, to the best of our knowledge, no cases of dedifferentiated melanoma with pseudo-angiomatoid aspects have ever been described. In this paper, we present a very rare case of partially dedifferentiated MM in which the most dedifferentiated component lost melanocytic lineage immunohistochemical markers and assumed a pseudo-angiomatous morphology. Given the rarity of the case, we carried out a literature review of similar cases described, trying to draw new future perspectives not only about this particular variant of MM but also about the widest field of dedifferentiation/undifferentiation of MM. Full article

(This article belongs to the Section Pathology and Molecular Diagnostics)

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4 pages, 1926 KiB

Open AccessInteresting Images

Angiomatoid Fibrous Histiocytoma (AFH) of the Right Arm: An Exceptional Case with Pulmonary Metastasis and Confirmatory EWSR1::CREB1 Translocation

by Gerardo Cazzato, Carmelo Lupo, Nadia Casatta, Flavia Riefoli, Andrea Marzullo, Anna Colagrande, Eliano Cascardi, Senia Maria Rosaria Trabucco, Giuseppe Ingravallo, Biagio Moretti, Eugenio Maiorano, Vito Pesce and Leonardo Resta

Diagnostics 2022, 12(11), 2616; https://doi.org/10.3390/diagnostics12112616 - 28 Oct 2022

Cited by 4 | Viewed by 2493

Abstract

Angiomatoid fibrous histiocytoma (AFH) is a rare neoplasm described for the first time by Enzinger in 1979, and classified by World Health Organization 2020 as intermediate malignant potential neoplasm. It mostly occurs in the subcutis and is characterized by varying proportions of epithelioid, [...] Read more.

Angiomatoid fibrous histiocytoma (AFH) is a rare neoplasm described for the first time by Enzinger in 1979, and classified by World Health Organization 2020 as intermediate malignant potential neoplasm. It mostly occurs in the subcutis and is characterized by varying proportions of epithelioid, ovoid and spindle cells in a nodular and syncytial growth pattern, with some hemorrhagic pseudovascular spaces. In this paper, we report the clinical case of a 62-year-old man who presented with AFH on the right arm, and relapsed three years after first surgical excision. After a further three years, the patient presented with an intramuscular localization of AFH, and 12 months after this, a pulmonary metastasis of AFH was diagnosed. Given the rarity of the spreading of AFH, we performed Fluorescence In Situ Hybridization (FISH) and we detected EWSR1::CREB1 gene fusion. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Tumors/Cancers)

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15 pages, 12309 KiB

Open AccessArticle

Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas

by Miriam Gutiérrez-Jimeno, Piedad Alba-Pavón, Itziar Astigarraga, Teresa Imízcoz, Elena Panizo-Morgado, Susana García-Obregón, Ana Catalán-Lambán, Mikel San-Julián, José M. Lamo-Espinosa, Aizpea Echebarria-Barona, Marta Zalacain, Marta M. Alonso and Ana Patiño-García

Cancers 2021, 13(21), 5436; https://doi.org/10.3390/cancers13215436 - 29 Oct 2021

Cited by 8 | Viewed by 2956

Abstract

Genomic techniques enable diagnosis and management of children and young adults with sarcomas by identifying high-risk patients and those who may benefit from targeted therapy or participation in clinical trials. Objective: to analyze the performance of an NGS gene panel for the clinical [...] Read more.

Genomic techniques enable diagnosis and management of children and young adults with sarcomas by identifying high-risk patients and those who may benefit from targeted therapy or participation in clinical trials. Objective: to analyze the performance of an NGS gene panel for the clinical management of pediatric sarcoma patients. We studied 53 pediatric and young adult patients diagnosed with sarcoma, from two Spanish centers. Genomic data were obtained using the Oncomine Childhood Cancer Research Assay, and categorized according to their diagnostic, predictive, or prognostic value. In 44 (83%) of the 53 patients, at least one genetic alteration was identified. In 80% of these patients, the diagnosis was obtained (n = 11) or changed (n = 9), and thus genomic data affected therapy. The most frequent initial misdiagnosis was Ewing’s sarcoma, instead of myxoid liposarcoma (FUS-DDDIT3), rhabdoid soft tissue tumor (SMARCB1), or angiomatoid fibrous histiocytoma (EWSR1-CREB1). In our series, two patients had a genetic alteration with an FDA-approved targeted therapy, and 30% had at least one potentially actionable alteration. NGS-based genomic studies are useful and feasible in diagnosis and clinical management of pediatric sarcomas. Genomic characterization of these rare and heterogeneous tumors also helps in the search for prognostic biomarkers and therapeutic opportunities. Full article

(This article belongs to the Topic Oncogenomics and Pediatric Health)

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6 pages, 2451 KiB

Open AccessCase Report

Angiomatoid Fibrous Histiocytoma: Case Presentation with Review of Literature

by Gerardo Cazzato, Anna Colagrande, Antonietta Cimmino, Mariella Silecchia, Teresa Lettini, Leonardo Resta and Giuseppe Ingravallo

Osteology 2021, 1(3), 112-117; https://doi.org/10.3390/osteology1030012 - 30 Jun 2021

Viewed by 3501

Abstract

Angiomatoid fibrous histiocytoma is a rare neoplasm with an intermediate malignant potential, that mostly occurs in the subcutis and features varying proportions of epithelioid, ovoid and spindle cells in a nodular and syncytial growth pattern, with hemorrhagic pseudovascular spaces. Here, we report the [...] Read more.

Angiomatoid fibrous histiocytoma is a rare neoplasm with an intermediate malignant potential, that mostly occurs in the subcutis and features varying proportions of epithelioid, ovoid and spindle cells in a nodular and syncytial growth pattern, with hemorrhagic pseudovascular spaces. Here, we report the clinical case of a 68-year-old man who presented with AFH on the right arm; the disease relapsed a few years after surgical excision. We also conduct a brief review of the literature, focusing on the biological and genetic characteristics and the differential diagnosis from other more or less similar entities. Full article

(This article belongs to the Special Issue Feature Papers in Osteology)

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4 pages, 604 KiB

Open AccessCase Report

Sclerosing Angiomatoid Nodular Transformation Presend Nodulartransformation Presenting with Abdominal Hemorrhage: First Report in Infancy

by Gloria Pelizzo, Vincenzo Villanacci, Luisa Lorenzi, Orietta Doria, Anna Maria Caruso, Vincenza Girgenti, Elettra Unti, Laura Putignano, Gabrio Bassotti and Valeria Calcaterra

Pediatr. Rep. 2019, 11(2), 7848; https://doi.org/10.4081/pr.2019.7848 - 23 May 2019

Cited by 16 | Viewed by 1647

Abstract

A limited number of sclerosing Angiomatoid Nodular Transformation (SANT) have been reported in pediatric age. We describe the first case of SANT occurring in a nine-week-old female infant that was admitted to our unit for severe abdominal distension and rectal bleeding. Enlarged spleen [...] Read more.

A limited number of sclerosing Angiomatoid Nodular Transformation (SANT) have been reported in pediatric age. We describe the first case of SANT occurring in a nine-week-old female infant that was admitted to our unit for severe abdominal distension and rectal bleeding. Enlarged spleen was detected on physical examination. Laboratory investigations revealed severe anemia and coagulation abnormalities. Abdominal ultrasound and computed tomography revealed ascites and splenomegaly with a large mass at the lower medial splenic pole. A diagnosis of intraabdominal hemorrhage was presumed and an exploratory laparotomy was performed. A complete transformation of the giant splenomegaly to bossellated masses and multiple bleeding capsular ruptures without subcapsular hematoma were found and an urgent splenectomy was performed. At histology, a SANT was diagnosed (CD34, CD31, CD8 positivity). The postoperative follow up was uneventful. SANT may also occur in infancy with a potentially lifethreatening presentation. Splenectomy may represent the only treatment in severe cases. Full article

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