scholarly journals Fibroblastic and myofibroblastic tumors of children: new genetic entities and new ancillary testing

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 1963 ◽  
Author(s):  
David M Parham
Keyword(s):  
Differential Diagnosis ◽  
Spindle Cell ◽  
Dermatofibrosarcoma Protuberans ◽  
Infantile Myofibromatosis ◽  
Unique Biology ◽  
Fibrous Hamartoma Of Infancy ◽  
Age Range ◽  
Variable Group ◽  
Calcifying Aponeurotic Fibroma ◽  
Infants And Young Children

Fibroblastic and myofibroblastic tumors comprise a morphologically diverse and biologically variable group of neoplasms that affect a wide age range. Specific entities tend to occur most frequently in infants and young children. Recent years have witnessed a proliferation of information concerning the unique biology of these tumors. In this report, I will review recent findings that serve to further characterize this group of neoplasms. Included will be newer information on fibrous hamartoma of infancy, infantile myofibromatosis, lipofibromatosis, and infantile fibrosarcoma and tumors resembling it, including primitive myxoid mesenchymal tumor of infancy and new genetic entities. I will also discuss the differential diagnosis, which includes spindle cell rhabdomyosarcoma, dermatofibrosarcoma protuberans, and calcifying aponeurotic fibroma.

scholarly journals Update on Superficial Spindle Cell Mesenchymal Tumors in Children

2021 ◽  
Vol 8 (3) ◽  
pp. 285-300
Author(s):  
Philippe Drabent ◽  
Sylvie Fraitag
Keyword(s):  
Spindle Cell ◽  
Dermatofibrosarcoma Protuberans ◽  
Diagnostic Value ◽  
Mesenchymal Tumors ◽  
Infantile Fibrosarcoma ◽  
Genetic Features ◽  
Fibrous Hamartoma Of Infancy ◽  
Neural Tumor ◽  
Prognostic Implications ◽  
Plexiform Fibrohistiocytic Tumor

The diagnosis of cutaneous and subcutaneous spindle cell neoplasms in children is often challenging and has potential therapeutic and prognostic implications. Although correctly diagnosing dermatofibrosarcoma protuberans and infantile fibrosarcoma is paramount, pathologists should not ignore a number of diagnostic pitfalls linked to mostly rare tumors with completely different clinical outcomes. In the last decade, a spectrum of novel entities has been described; information from molecular biology has helped to shape this new landscape for spindle cell tumors. Here, we review the most noteworthy neoplasms in this spectrum, with a focus on their histological similarities: fibroblastic connective tissue nevus, medallion-like dermal dendrocyte hamartoma, or plaque-like CD34-positive dermal fibroma, which share features with fibrous hamartoma of infancy; lipofibromatosis and lipofibromatosis-like neural tumor; and plexiform myofibroblastoma, a recently described neoplasm that should be distinguished from plexiform fibrohistiocytic tumor. These tumors also have genetic similarities, particularly gene rearrangements involving NTRK3 or NTRK1. These genetic features are not only essential for the differential diagnosis of infantile fibrosarcoma but are also of diagnostic value for lipofibromatosis-like neural tumors. The more recently described RET, RAF1, and BRAF gene fusions are also discussed.

Real-Ear-to-Coupler Difference Predictions as a Function of Age for Two Coupling Procedures

2002 ◽  
Vol 13 (08) ◽  
pp. 407-415 ◽  
Author(s):  
Marlene P. Bagatto ◽  
Susan D. Scollie ◽  
Richard C. Seewald ◽  
K. Shane Moodie ◽  
Brenda M. Hoover
Keyword(s):  
Young Children ◽  
Infants And Children ◽  
Regression Equations ◽  
Predictive Equations ◽  
Subject Variability ◽  
Predicted Values ◽  
Age Range ◽  
Infants And Young Children

The predicted real-ear-to-coupler difference (RECD) values currently used in pediatric hearing instrument prescription methods are based on 12-month age range categories and were derived from measures using standard acoustic immittance probe tips. Consequently, the purpose of this study was to develop normative RECD predicted values for foam/acoustic immittance tips and custom earmolds across the age continuum. To this end, RECD data were collected on 392 infants and children (141 with acoustic immittance tips, 251 with earmolds) to develop normative regression equations for use in deriving continuous age predictions of RECDs for foam/acoustic immittance tips and earmolds. Owing to the substantial between-subject variability observed in the data, the predictive equations of RECDs by age (in months) resulted in only gross estimates of RECD values (i.e., within ± 4.4 dB for 95% of acoustic immittance tip measures; within ± 5.4 dB in 95% of measures with custom ear molds) across frequency. Thus, it is concluded that the estimates derived from this study should not be used to replace the more precise individual RECD measurements. Relative to previously available normative RECD values for infants and young children, however, the estimates derived through this study provide somewhat more accurate predicted values for use under those circumstances for which individual RECD measurements cannot be made.

scholarly journals Lipoma of the Thumb: Spindle Cell Subtype

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Johnny El Rayes ◽  
Roula Bou Sader ◽  
Elie Saliba
Keyword(s):  
Differential Diagnosis ◽  
Soft Tissue ◽  
Clinical Examination ◽  
Spindle Cell ◽  
Excisional Biopsy ◽  
Spindle Cell Lipoma ◽  
Cell Subtype ◽  
Soft Tissue Swelling ◽  
Palmar Aspect

We report hereby the case of a 61-year-old man who presented with a soft-tissue swelling on the palmar aspect of the thumb. A detailed clinical examination followed by ultrasonography and excisional biopsy confirmed a spindle cell lipoma. Lipomas are rare in the hand and exceptional in the fingers, and we report, to our knowledge, the first spindle cell lipoma in the thumb to help in the differential diagnosis of a similar swelling.

scholarly journals Dermatofibrosarcoma protuberans: a tumor in the wide spectrum of the bland-looking spindle cell lesions of the breast

Pathologica ◽  
2019 ◽  
Vol 111 (3) ◽  
pp. 87-91
Author(s):  
G. M. Vecchio ◽  
G. Broggi ◽  
A. Mulè ◽  
E. Piombino ◽  
G. Magro
Keyword(s):  
Spindle Cell ◽  
Wide Spectrum ◽  
Dermatofibrosarcoma Protuberans

Primary ovarian synovial sarcoma

2021 ◽  
Vol 14 (11) ◽  
pp. e244756
Author(s):  
Muhammad Amin ur Rahman ◽  
Khalid Al Wadi ◽  
Al Nuqaydan ◽  
Raghad Tallab
Keyword(s):  
Differential Diagnosis ◽  
Synovial Sarcoma ◽  
Molecular Pathology ◽  
Genital Tract ◽  
Spindle Cell ◽  
Female Genital Tract ◽  
Rare Occurrence ◽  
Spindle Cell Tumours ◽  
Spindle Cell Tumour ◽  
Female Genital

Synovial sarcoma (SS) has a rare occurrence in the female genital tract. Only three prior reports of primary ovarian sarcoma could be retrieved after a thorough literature review. We are reporting a case of primary ovarian SS in a young woman. The tumour showed monophasic spindle cell morphology, and there was a wide list of differential diagnosis to consider. We confirmed the diagnosis by cytogenetics Flourescent Insitu Hybridisation (FISH) technique to identify the classical translocation. The diagnosis of this disease can be challenging especially if the tumour is of monophasic type. Morphology and immunohistochemistry are not enough to confirm the diagnosis in many cases. A confirmatory molecular pathology test is paramount. We have discussed the differential diagnosis of spindle cell tumours in ovary. We suggest that SS should be in the differential diagnoses when facing any atypical spindle cell tumour in the ovary. Molecular pathology techniques can help to confirm the diagnosis.

Guidelines for Pathologic Diagnosis of Malignant Mesothelioma: A Consensus Statement from the International Mesothelioma Interest Group

2009 ◽  
Vol 133 (8) ◽  
pp. 1317-1331 ◽  
Author(s):  
Aliya N. Husain ◽  
Thomas V. Colby ◽  
Nelson G. Ordóñez ◽  
Thomas Krausz ◽  
Alain Borczuk ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Interest Group ◽  
Malignant Mesothelioma ◽  
Consensus Statement ◽  
Spindle Cell ◽  
Cytologic Diagnosis ◽  
Pathologic Diagnosis ◽  
Practical Guidelines ◽  
Colonic Adenocarcinomas ◽  
Sarcomatoid Mesothelioma

Abstract Context.—Malignant mesothelioma (MM) is an uncommon tumor that can be difficult to diagnose. Objective.—To develop practical guidelines for the pathologic diagnosis of MM. Data Sources.—A pathology panel was convened at the International Mesothelioma Interest Group biennial meeting (October 2006). Pathologists with an interest in the field also contributed after the meeting. Conclusions.—There was consensus opinion regarding (1) distinguishing benign from malignant mesothelial proliferations (both epithelioid and spindle cell lesions), (2) cytologic diagnosis of MM, (3) key histologic features of pleural and peritoneal MM, (4) use of histochemical and immunohistochemical stains in the diagnosis and differential diagnosis of MM, (5) differentiating epithelioid MM from various carcinomas (lung, breast, ovarian, and colonic adenocarcinomas and squamous cell and renal cell carcinomas), (6) diagnosis of sarcomatoid mesothelioma, (7) use of molecular markers in the differential diagnosis of MM, (8) electron microscopy in the diagnosis of MM, and (9) some caveats and pitfalls in the diagnosis of MM. Immunohistochemical panels are integral to the diagnosis of MM, but the exact makeup of panels used is dependent on the differential diagnosis and on the antibodies available in a given laboratory. Immunohistochemical panels should contain both positive and negative markers. The International Mesothelioma Interest Group recommends that markers have either sensitivity or specificity greater than 80% for the lesions in question. Interpretation of positivity generally should take into account the localization of the stain (eg, nuclear versus cytoplasmic) and the percentage of cells staining (>10% is suggested for cytoplasmic membranous markers). These guidelines are meant to be a practical reference for the pathologist.

scholarly journals A Rare Case of Fibrous Hamartoma of Infancy: A Clinicopathological Diagnosis at a Tertiary Hospital, Eastern Nepal

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
G. Lama ◽  
P. Upadhyaya ◽  
B. Adhikari ◽  
M. Adhikari ◽  
S. Dhakal
Keyword(s):  
Histopathological Examination ◽  
Stellate Cell ◽  
Fibrous Tissue ◽  
Female Child ◽  
Tertiary Hospital ◽  
Fibrous Hamartoma Of Infancy ◽  
Myxoid Matrix ◽  
Proper Diagnosis ◽  
Gross Examination ◽  
Infants And Young Children

Background. Fibrous hamartoma of infancy is a rare soft tissue lesion of infants and young children with characteristic triphasic morphology. Case Description. An 18-month-old female child was presented with complaints of swelling over right leg shin since birth. On examination, a lump of size 7x3 cm was identified which was mobile and nontender. Local excision was performed and tissue sent for histopathological examination. On gross examination, a globular, capsulated, firm to hard tissue had cut section revealing solid grey-white to grey-brown lesion with myxoid areas identified. Microscopic examination revealed a poorly circumscribed lesion comprising intersecting trabeculae of fibrous tissue, areas of immature oval and stellate cell within myxoid matrix, and varying amounts of interspersed mature fat cells. Conclusion. Even though fibrous hamartoma of infancy is a rare benign entity with limited clinical knowledge, proper diagnosis is mandatory as its prognosis is excellent.

Hemangiopericytoma-like synovial sarcoma of the lumbar spine

2006 ◽  
Vol 4 (2) ◽  
pp. 179-182 ◽  
Author(s):  
Nikolaos Sakellaridis ◽  
Helen Mahera ◽  
Spiros Pomonis
Keyword(s):  
Differential Diagnosis ◽  
Cervical Spine ◽  
Lumbar Spine ◽  
Synovial Sarcoma ◽  
Spindle Cell ◽  
Cell Tumor ◽  
Spindle Cell Tumor ◽  
Deep Soft Tissue ◽  
Pathological Characteristics ◽  
The Brain

✓The purpose of this report is to demonstrate that synovial sarcoma should be included in the differential diagnosis of tumors originating from the lumbar spine, especially if they show hemangiopericytoma-like pathological characteristics. A synovial sarcoma is a mesenchymal spindle cell tumor that displays variable epithelial differentiation including glandular formation. It is unrelated to a synovium. More than 80% of these lesions arise in the deep soft tissue of the extremities. The tumor frequently arises adjacent to joints or tendon sheaths. The authors describe a young woman with a hemangiopericytoma-like tumor of the lumbar spine. During repeated operation, this lesion was shown to be a synovial sarcoma, which had invaded the dura mater. The tumor metastasized to the mediastinum and the intradural cervical spine and, finally, to the brain and the lungs. To the authors’ knowledge, this is the first reported case of a synovial sarcoma originating from the lumbar spine.

scholarly journals Case Report: Prolapsed Ureterocele—A Differential Diagnosis of Urethral Cists

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Francisco Renan Doth Sales ◽  
Georgia Alexsandra Colantonio Dourado ◽  
Ana Carolina Montes Ribeiro ◽  
Humberto de Holanda Madeira Barros ◽  
David Sucupira Cristino ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Urinary Tract ◽  
Young Children ◽  
Clinical Presentation ◽  
Cystic Dilatation ◽  
Distal Ureter ◽  
Urethral Prolapse ◽  
Infants And Young Children ◽  
Vulvar Mass

Ureterocele is a cystic dilatation of submucosal distal ureter. It presents a higher incidence in infants and young children but is rare in adults. The urethral prolapse of ureterocele is extremely rare, and its clinical presentation includes vulvar mass, hematuria, and urinary tract dysfunction. We present a case of ureterocele prolapse in a 45-year-old woman who has a 3-day-evolution vulvar mass and intense urethral bleeding. The patient underwent armed cystoscopy and ureteroscopy, ureterocele resection, and biopsy. She evolved with good postoperative condition and was then discharged.

Sign in / Sign up

Export Citation Format

Share Document