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Pediatric and Developmental Pathology :... 2023Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this... (Review)
Review
Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this variation is due to odontogenesis and the embryological cells that may be involved, which can contribute to disease development and histologic variability. As with any boney pathosis, the key is to have clinical correlation, particularly with radiographic imaging prior to establishing a definitive diagnosis. This review will cover those entities that have a predilection for the pediatric population, and while it is not all inclusive, it should serve as a foundation for the pathologist who is evaluating bony lesions involving the craniofacial skeleton.
Topics: Humans; Child; Bone and Bones; Neck; Neoplasms; Odontogenic Tumors
PubMed: 37232383
DOI: 10.1177/10935266231170744 -
Journal of Cutaneous Pathology Jan 2024Desmoplastic fibroblastoma (collagenous fibroma) is a rare soft tissue tumor that usually arises in the subcutis or skeletal muscle. Cases superficial to fascia are...
BACKGROUND
Desmoplastic fibroblastoma (collagenous fibroma) is a rare soft tissue tumor that usually arises in the subcutis or skeletal muscle. Cases superficial to fascia are unusual and can cause diagnostic difficulty. We present 11 cases of superficial desmoplastic fibroblastoma involving a wide anatomic distribution.
METHODS
Archives were searched using the term "desmoplastic fibroblastoma" over a 10-year period (2012-2022). Cases superficial to fascia were retrieved, and available clinicopathologic features were recorded. Only cases involving the dermis were included.
RESULTS
Eleven cases were identified, all of which were received in consultation. Tumors involved the head and neck (2), lower extremity (2), back (2), foot (1), shoulder (1), axilla (1), hand (1), and breast (1). Each consisted of a hypocellular proliferation of bland stellate to spindled fibroblasts set in a collagenous to focally myxoid stroma. The immunohistochemical stains available for review demonstrated SMA positivity (4/7) and negative immunoreactivity for CD34 (0/6), EMA (0/3), desmin (0/3), and S100 (0/7).
CONCLUSIONS
Desmoplastic fibroblastoma may present superficially in the dermis to subcutis, posing a potential source of diagnostic difficulty. Recognition of the characteristic histopathologic features of desmoplastic fibroblastoma with judicial use of immunohistochemical stains should allow for accurate diagnosis.
Topics: Humans; Fibroma, Desmoplastic; Fibroma; Fibroblasts; Soft Tissue Neoplasms; Breast
PubMed: 37666661
DOI: 10.1111/cup.14529 -
Case Reports in Oncology 2023Desmoplastic fibroma is a rare primary benign bone tumour that typically affects the long bones, mandible, and pelvis. It has a similar local aggressiveness to soft...
Desmoplastic fibroma is a rare primary benign bone tumour that typically affects the long bones, mandible, and pelvis. It has a similar local aggressiveness to soft tissue fibromatosis. It rarely involves the small bones of the hand. We describe an extremely rare case of desmoplastic fibroma of the proximal phalanx of the hand in a patient who presented with an aggressively enlarging but painless mass on the left ring finger. Radiological features suggested malignancy; however, an initial biopsy revealed fibrotic tissue. Trans-metacarpal amputation of the ring and little fingers and soft tissue reconstruction were performed using a local ulnar-based flap of the little finger. The final histopathological evaluation revealed desmoplastic fibroma. Aggressively growing masses in the hand should be treated according to a sarcoma management protocol, and desmoplastic fibroma should be included in the differential diagnosis.
PubMed: 37485013
DOI: 10.1159/000529895 -
Child's Nervous System : ChNS :... Sep 2023Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of...
BACKGROUND
Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of medulloblastoma and cardiac fibroma in Gorlin-Goltz syndrome is extremely rare. The present article discusses a patient diagnosed with Gorlin-Goltz syndrome and concurrent medulloblastoma and cardiac fibroma.
CASE PRESENTATION
A 19-month-old boy transferred to our hospital after a radiological finding of posterior fossa lesion and hydrocephalus. A pericardial mass was noted after persistent arrhythmias. Both tumors were excised for definitive management. The histopathological sections were diagnostic of desmoplastic nodular medulloblastoma, WHO grade 4 and cardiac fibroma. Molecular and genetic investigations confirmed a pathogenic variant of PTCH1 gene, suggestive of autosomal dominant Gorlin-Goltz syndrome.
CONCLUSION
Co-occurrence of medulloblastoma and cardiac fibroma is extremely rare and poses a management dilemma. Genetic counseling and antenatal screening are of utmost importance to early detect and manage patients with Gorlin-Goltz syndrome.
Topics: Pregnancy; Male; Humans; Female; Infant; Basal Cell Nevus Syndrome; Medulloblastoma; Fibroma; Cerebellar Neoplasms
PubMed: 37160435
DOI: 10.1007/s00381-023-05970-9 -
Journal of Stomatology, Oral and... Feb 2024Desmoplastic fibroma (DF) is a rare benign bone tumor adopting an aggressive behavior, representing a challenge for clinical and radiographic diagnosis. This case report...
Desmoplastic fibroma (DF) is a rare benign bone tumor adopting an aggressive behavior, representing a challenge for clinical and radiographic diagnosis. This case report focused on a 31-year-old man with a large mandibular lesion with severe displacements of the mandibular teeth. Only a combination of paraclinical findings allows a definitive diagnosis to be made. Cervicofacial MRI revealed a low T1 signal intensity with peripheral enhancement after Gadolinium, and T2 hyperintense signal, while PET scan showed a moderate metabolism. Bone biopsy with immunohistochemical analysis allowed for definitive diagnosis of DF after eliminating the main differential diagnosis (fibrous dysplasia, fibrosarcoma, desmoid tumor, and osteosarcoma). The patient was successfully treated by large mandibular resection and reconstruction with a free-fibular bone flap".
PubMed: 38431083
DOI: 10.1016/j.jormas.2024.101805 -
Child's Nervous System : ChNS :... Jul 2024Desmoplastic fibroma (DF) is an uncommon intermediate bone tumor rarely involving the skull with unidentified pathogenesis. We report the first case of pediatric... (Review)
Review
PURPOSE
Desmoplastic fibroma (DF) is an uncommon intermediate bone tumor rarely involving the skull with unidentified pathogenesis. We report the first case of pediatric temporoparietal cranial desmoplastic fibroma (DF) with a CTNNB1 gene mutation and review the previous literature.
CASE PRESENTATION
A 3-year-old boy had a firm, painless mass on the right temporoparietal region for 22 months. The cranial CT scan showed isolated osteolytic destruction in the outer plate and diploe of the right temporoparietal bone. Gross total resection of the lesion and cranioplasty were performed. After that, a growing epidural hematoma was observed so another operation was performed to remove the artificial titanium plate. Postoperative pathology indicated a DF diagnosis and molecular pathology suggested a missense mutation in exon 3 of the CTNNB1 gene (c.100G > A,p.Gly34Arg).
CONCLUSION
Pediatric cranial DF is rare and easy to be misdiagnosed before operation. For cranial DF, lesion resection can be performed and perioperative management should be strengthened. Mutations in the CTNNB1 gene might be one of the molecular pathologic features of DF.
Topics: Humans; Male; beta Catenin; Child, Preschool; Fibroma, Desmoplastic; Skull Neoplasms; Mutation; Tomography, X-Ray Computed
PubMed: 38635072
DOI: 10.1007/s00381-024-06375-y -
Journal of Oral and Maxillofacial... 2023Spindle cell lesions comprise a vast plethora of benign and malignant lesions with similar clinical and radiographic features. Their overlapping histopathologic features...
CONTEXT
Spindle cell lesions comprise a vast plethora of benign and malignant lesions with similar clinical and radiographic features. Their overlapping histopathologic features ensure a diagnostic dilemma.
AIM
The current multicentric study aims to delineate fibroblastic and myofibroblastic oral spindle cell lesions based on cytomorphology and comprehensive immunohistochemical analysis.
SETTINGS AND DESIGN
The experimental study was conducted at MS Ramaiah University of Applied Sciences, Bangalore, and All India Institute of Applied Sciences, Delhi.
METHODS AND MATERIAL
A comprehensive histological scoring criteria and panel of immunohistochemical makers (STAT6, CD31, CD34, S100, SMA, vimentin, pan-CK, HHF-35, Ki67, ALK, desmin, HMB-45, SATB2, ERG, EMA and CD99) were employed concurrently for the first time for fibroblastic and myofibroblastic oral spindle cell lesions. The data obtained was tabulated and studied.
STATISTICAL ANALYSIS USED
Results: Using cytological scoring criteria and panel of immunohistochemical makers, the cases analysed and characterized were desmoplastic fibroma, fibrosarcoma, leiomyosarcoma, nodular fasciitis, neurofibroma and epithelioid inflammatory myofibroblastic sarcoma (EIMS).
CONCLUSIONS
The diagnostic strategies need to be upgraded for the diagnosis of spindle cell lesions. Emphasis must be placed on cytomorphology, an immunohistochemistry (IHC) panel of markers is imperative for the accurate diagnosis of fibroblastic and myofibroblastic oral spindle cell lesions.
PubMed: 38304501
DOI: 10.4103/jomfp.jomfp_282_23 -
BMC Oral Health Feb 2024Desmoplastic fibroma (DF) is an uncommon bone tumor that originates from the mesenchymal tissue and despite being benign, exhibits aggressive behavior locally. The...
Desmoplastic fibroma (DF) is an uncommon bone tumor that originates from the mesenchymal tissue and despite being benign, exhibits aggressive behavior locally. The following report describes the case of a 7-year-old boy with a rapidly enlarging swelling on the right side of the mandible. After a thorough clinical examination, radiographic imaging, and histopathological analysis, the diagnosis of DF was confirmed. Treatment planning was formulated considering both the tumor's tendency for local recurrence and the patient's well-being. Due to the patient's young age, segmental resection was not deemed appropriate, and an aggressive curettage and enucleation of the lesion followed by the bone graft was performed instead. The patient was kept under close follow-up for the first month of post-surgery and later reviewed after 3, 6, 9, and 12 months, respectively. Good bone healing was observed on radiographs. The patient did not show any signs of recurrence based on clinical or radiographic assessments and did not exhibit any neurosensory deficits as well.
Topics: Male; Humans; Child; Fibroma, Desmoplastic; Mandible; Radiography; Bone Transplantation
PubMed: 38378640
DOI: 10.1186/s12903-024-04018-x -
Cureus Jul 2023Desmoplastic fibroma (DF) is a rare, benign, yet locally aggressive bone tumor. It frequently affects the facial bones, and the mandible is the most commonly affected...
Desmoplastic fibroma (DF) is a rare, benign, yet locally aggressive bone tumor. It frequently affects the facial bones, and the mandible is the most commonly affected site. Treatment of choice is the removal of the tumor with resection of surrounding bone due to its aggressive behavior. We report a case of DF where the tumor showed resolution and almost complete bone deposition following enucleation. Although DF has a high recurrence rate, the patient remains disease-free 31 months post-surgery.
PubMed: 37602060
DOI: 10.7759/cureus.42213