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Advanced Diagnosis and Integrated Management of Bone and Soft Tissue Tumors

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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 31 May 2026 | Viewed by 3817

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Special Issue Editor

Dr. Tiao Lin

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Guest Editor

1. Department of Musculoskeletal Oncology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
2. Guangdong Provincial Key Laboratory of Orthopedics and Traumatology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
Interests: musculoskeletal neoplasms; diagnostic imaging; molecular pathology

Special Issue Information

Dear Colleagues,

This Special Issue will showcase cutting-edge research and clinical insights in the multidisciplinary field of bone and soft tissue tumor diagnosis and management, covering both benign and malignant tumors, such as osteosarcoma, chondrosarcoma, Ewing’s sarcoma, and liposarcoma. The main focus areas will include 1) novel diagnostic techniques, such as advanced imaging, molecular/genomic profiling, and AI-assisted pathological diagnosis; 2) unique case reports highlighting rare cases, diagnostic challenges, or innovative treatment approaches; and 3) translational research linking laboratory findings with clinical practice, prognostic markers, and personalized treatment strategies. We welcome original research, systematic reviews, clinical trials, and case studies, with an emphasis on multidisciplinary collaboration (orthopedic oncology, radiology, pathology, and medical oncology). This Special Issue will serve as a comprehensive resource for clinicians and researchers dedicated to improving the prognosis of patients with bone and soft tissue tumors. Additionally, we encourage submissions exploring the role of emerging technologies, such as liquid biopsy, circulating tumor cells, and single-cell sequencing, in the context of bone and soft tissue tumor diagnosis and management.

Dr. Tiao Lin
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

musculoskeletal neoplasms
diagnostic imaging
molecular pathology
multidisciplinary treatment
personalized medicine
translational research
multidisciplinary collaboration

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Published Papers (6 papers)

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9 pages, 1144 KB

Open AccessArticle

Bilateral Lesions Are Linked to Postoperative Regrowth in Craniofacial Fibrous Dysplasia: Alkaline Phosphatase as a Marker of Clinical Phenotype

by Jiang Xue, Longping Liu, Jianyun Zhang, Yue Lou, Lisha Sun and Tiejun Li

Diagnostics 2026, 16(3), 472; https://doi.org/10.3390/diagnostics16030472 - 3 Feb 2026

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Abstract

Objectives: This study aimed to evaluate phenotypic associations between preoperative alkaline phosphatase (ALP) levels and clinical characteristics, and explore clinical factors associated for postoperative regrowth in craniofacial fibrous dysplasia. Methods: In this retrospective cohort (2003–2024), 71 surgically treated fibrous dysplasia patients were analyzed. Relationships between preoperative ALP (using age-stratified reference ranges) and key phenotypes (age at surgery, onset age, laterality, lesion type) were assessed via nonparametric tests. Associations with postoperative regrowth were assessed using Mann–Whitney U or Kruskal–Wallis tests for non-normally distributed continuous variables and χ² or Fisher’s exact tests for categorical variables. Results: Preoperative ALP levels significantly correlated with younger surgical age (16–19 vs. ≥19 years: 244.0 vs. 107.0 U/L, p < 0.001), earlier onset (0–16 vs. >16 years: 114.0 vs. 83.0 U/L, p = 0.030), bilateral lesions (176.0 vs. 106.2 U/L, p = 0.006), and polyostotic subtype (polyostotic fibrous dysplasia vs. monostotic fibrous dysplasia: 162.0 vs. 87.5 U/L, p < 0.001). However, neither ALP levels (p = 0.061) nor abnormal ALP rates (p = 0.090) predicted regrowth. Crucially, bilateral lesions were significantly associated with regrowth (83.3% (5/6) vs. 21.5% (14/65); p = 0.005). The overall regrowth rate was 8.5% (6/71). Conclusions: Bilateral lesions demonstrate significant association with postoperative regrowth risk, potentially guiding surveillance intensity. ALP correlates with phenotypic burden but shows limited prognostic utility. These findings, interpreted considering retrospective constraints, warrant validation in larger cohorts. Full article

(This article belongs to the Special Issue Advanced Diagnosis and Integrated Management of Bone and Soft Tissue Tumors)

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10 pages, 740 KB

Open AccessArticle

Association Between Immunohistochemical Profile and Radiographic Presentation of Breast Cancer Skeletal Metastases

by Stanislav Rajkovic, Lazar Miceta, Bojan Petrovic, Nikola Bogosavljevic, Nemanja Jovanovic, Goran Djuricic, Ljubica Simic, Jelena Sopta and Danilo Jeremic

Diagnostics 2026, 16(2), 281; https://doi.org/10.3390/diagnostics16020281 - 16 Jan 2026

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Abstract

Background/Objectives: Understanding the biological factors that drive the behavior and clinical presentation of breast cancer (BC) skeletal metastases (SM) is critical for improving diagnostic accuracy and guiding treatment strategies. However, evidence regarding the immunohistochemical (IHC) profiles of SM and their association with radiographic characteristics and clinical features remains limited. This study aimed to evaluate the relationship between estrogen receptor (ER), progesterone receptor (PR), HER2 receptor status, and Ki-67 proliferation index with the radiographic presentation of SM in patients with BC. Methods: A total of 185 SM samples from individual BC patients were analyzed. IHC expressions of ER, PR, HER2, and Ki-67 were determined for each sample. Clinical and radiological data were retrieved from medical records. IHC profiles were compared between metastases demonstrating purely lytic versus mixed radiographic patterns. Results: Of the 185 cases, 66 exhibited a lytic pattern, and 119 demonstrated a mixed pattern. Lytic metastases showed a significantly higher rate of HER2 positivity compared with mixed lesions. The Ki-67 index was also significantly higher in lytic metastases, with a cutoff value of 25 yielding a sensitivity of 92.98% and specificity of 89.84% (positive likelihood ratio 9.16; negative likelihood ratio 0.08). No significant differences were observed between groups in ER or PR expression. Conclusions: SM from BC with a lytic radiographic presentation are more likely to exhibit HER2 positivity and a Ki-67 index above 25. Assessing the IHC status of SM may help identify patients at elevated risk for skeletal complications, including pathological fracture, and may support more tailored surgical and systemic treatment planning. Full article

(This article belongs to the Special Issue Advanced Diagnosis and Integrated Management of Bone and Soft Tissue Tumors)

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11 pages, 4202 KB

Open AccessArticle

Pattern of Mandibular Bone Invasion as a Prognostic Factor

by Richard Pink, Jaroslav Michálek, Zdeněk Dvořák, Peter Tvrdý, Lenka Šašková, Michal Herman, Petr Heinz, Markéta Hermanová, Jana Zapletalová and Michal Mozoľa

Diagnostics 2025, 15(23), 2989; https://doi.org/10.3390/diagnostics15232989 - 25 Nov 2025

Cited by 1 | Viewed by 991

Abstract

Background/Objectives: Mandibular bone invasion is a common and clinically relevant feature of OSCC, particularly in tumors of the lower alveolus, floor of mouth, and retromolar trigone. The prognostic value of the pattern of invasion—rather than its mere presence—remains insufficiently defined. Therefore, we evaluated the prognostic relevance of erosive vs. infiltrative mandibular invasion and the diagnostic reliability of preoperative CT. Methods: This retrospective, single-center observational cohort study included 83 patients with OSCC involving or adjacent to the mandible who underwent surgical resection at the Department of Oral and Maxillofacial Surgery, University Hospital Olomouc (2008–2018). Bone invasion type was classified histopathologically as erosive or infiltrative. Survival outcomes were analyzed using Kaplan–Meier and Cox regression methods. Correlation between radiologic and histologic findings was assessed using Cohen’s kappa statistics. Results: Mandibular invasion was confirmed in 50.6% of cases, of which roughly two-thirds were infiltrative. DSS differed across invasion groups (log-rank p = 0.012): infiltrative had a median DSS of 14.5 months (95% CI 0.0–32.8), no invasion had 54.2 months (CI not estimable), while erosive did not reach the median (fewer than half experienced the event). In the adjusted model (covariates: invasion type, ENE, grade, margins), infiltrative vs. no invasion was associated with worse DSS (aHR 1.93, 95% CI 1.02–3.64; p = 0.042); for OS, erosive vs. no invasion showed a protective association (aHR 0.39, 95% CI 0.16–0.96; p = 0.041). Positive/close margins were independently adverse across endpoints (e.g., DSS aHR 3.30, 95% CI 1.74–6.22). CT–histology agreement for bone invasion was κ = 0.45, indicating moderate agreement. Conclusions: In this retrospective single-center cohort, the pattern of mandibular bone invasion was associated with survival: infiltrative invasion aligned with worse outcomes, whereas erosive behaved similarly to no invasion, particularly for OS. Prospective, multicenter validation is warranted before routine incorporation into risk stratification or treatment selection. Full article

(This article belongs to the Special Issue Advanced Diagnosis and Integrated Management of Bone and Soft Tissue Tumors)

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11 pages, 3468 KB

Open AccessCase Report

Multiparametric US and MRI Features of Femoral Myxoid Liposarcoma—Case Report and Literature Review

by Thomas Ferenc, Nikolina Jurjević, Andro Matković, Lea Korša, Kristian Kunjko, Ana Terezija Jerbić Radetić, Ivana Jurca, Ranko Smiljanić, Helga Sertić Milić and Vinko Vidjak

Diagnostics 2026, 16(9), 1286; https://doi.org/10.3390/diagnostics16091286 - 24 Apr 2026

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Abstract

Background/Objectives: Myxoid liposarcoma (MLS) is a malignant soft-tissue tumor and the second-most common subtype of liposarcoma, often occurring in the lower limbs of middle-aged patients. Case Presentation: A 38-year-old male patient presented to the ultrasound outpatient clinic with a large mass in the right femoral region. It has been present for 15 years and mostly stable in size. Over the last two years, it has been slowly increasing in size, more rapidly in the previous 10 months, and has started to limit his range of motion. After multiparametric ultrasound and magnetic resonance imaging evaluation, the proposed diagnosis was myxoid liposarcoma. Following imaging workup, the patient was referred to the tertiary sarcoma center, where a biopsy was performed, and pathohistological diagnosis was low-grade myxoid liposarcoma. Contrast-enhanced computed tomography (CT) evaluation of the thorax, abdomen, and pelvis showed no signs of dissemination, and CT angiography showed no signs of vessel infiltration. Plastic surgery and vascular surgery specialists performed the extirpation of the mass with the partial resection of the adjacent sartorius muscle and the complete resection of the great saphenous vein. Subsequent pathohistological analysis of the mass and local lymph nodes showed clear surgical margins and no lymphatic or vascular invasion. The patient is currently under regular surveillance by an oncology specialist and awaiting adjuvant radiotherapy. Conclusions: A multidisciplinary approach is essential in the management of patients with MLS, as it provides a tailored, individualized assessment from diagnosis through treatment to ensure the best possible outcome. Full article

(This article belongs to the Special Issue Advanced Diagnosis and Integrated Management of Bone and Soft Tissue Tumors)

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15 pages, 1255 KB

Open AccessCase Report

The Complexities of Periorbital Neurofibroma: Diagnostic Ambiguity and Therapeutic Dilemmas: A Case Report and Literature Review

by Marijus Leketas, Gerda Kilinskaitė, Nida Kilinskaitė, Goda Miniauskienė, Žygimantas Petronis and Audra Janovskienė

Diagnostics 2026, 16(5), 732; https://doi.org/10.3390/diagnostics16050732 - 1 Mar 2026

Viewed by 432

Abstract

Background: Periorbital tumors represent a diagnostic challenge due to overlapping clinical and histopathological features. Case presentation: We present the case of a 57-year-old female with a recurrent left lower eyelid lesion initially diagnosed as malignant melanoma. Over a seven-year course, the patient underwent multiple surgical excisions, radiotherapy, systemic therapies, and repeated imaging. Histopathological findings alternated between melanoma, neuroma, hybrid peripheral nerve sheath tumor, and ultimately neurofibroma (NF1). Immunohistochemical staining repeatedly demonstrated positivity for S100 and SOX10, with variable expression of melanocytic markers, underscoring the diagnostic ambiguity between desmoplastic melanoma and NF. Despite multiple interventions, including Pembrolizumab therapy and orbital exenteration, tumor progression persisted. This case highlights the considerable difficulty in distinguishing melanoma from neurofibroma in the periorbital region, particularly when histological and immunohistochemical profiles overlap. Conclusions: Accurate diagnosis requires a multidisciplinary approach, repeated reassessment, and awareness of rare presentations. Our report emphasizes the importance of integrating clinicopathological data and selected molecular diagnostics to optimize management of such complex cases. Full article

(This article belongs to the Special Issue Advanced Diagnosis and Integrated Management of Bone and Soft Tissue Tumors)

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6 pages, 2063 KB

Open AccessInteresting Images

Perineurial Malignant Peripheral Nerve Sheath Tumor of the Cauda Equina: Diagnostic Challenge

by Tomonori Kawasaki, Tomoaki Torigoe, Takuya Watanabe, Satoshi Kanno, Masataka Hirasaki, Arisa Kokubo, Kojiro Onohara, Masanori Wako, Tetsuhiro Hagino and Jiro Ichikawa

Diagnostics 2025, 15(21), 2697; https://doi.org/10.3390/diagnostics15212697 - 24 Oct 2025

Viewed by 783

Abstract

Malignant peripheral nerve sheath tumors (MPNSTs) are rare sarcomas with an extremely rare perineurial subtype. Herein, we present a case of a perineurial MPNST in the cauda equina. Clinically and radiologically, a mass extending from within the spinal canal at the L5 level to outside the intervertebral foramen was identified, raising suspicion of a neurogenic tumor as the primary diagnosis. Computed tomography-guided biopsy suggested an intermediate- to low-grade malignancy; however, a definitive diagnosis could not be established. Two years later, worsening neurological symptoms prompted further imaging, which revealed significant tumor growth and bone invasion. Open biopsy was performed to obtain a definitive diagnosis of perineurial MPNST. MPNSTs lack distinctive imaging features and are generally diagnosed based on a combination of radiological and histopathological findings. Although MPNSTs have a poor prognosis, the perineurial subtype is considered to have a relatively favorable outcome. Given these factors, early diagnosis followed by surgical resection or radiation therapy is recommended. Full article

(This article belongs to the Special Issue Advanced Diagnosis and Integrated Management of Bone and Soft Tissue Tumors)

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