scholarly journals Rhabdomyosarcoma of lip - issues of subtyping, morphology and immunohistochemistry versus molecular studies: a case report with review of literature

2020 ◽  
Vol 7 (7) ◽  
pp. 2389
Author(s):  
Leon Alexander ◽  
Hiran Kattilaparambil Ravindran ◽  
Juliet George

Rhabdomyosarcoma (RMS) is a malignant soft tissue tumour occurring most frequently in younger age groups. Study presented a rare case of spindle cell Rhabdomyosarcoma of the upper lip involving the commissure area. In this case report after successful surgical excision, the patient underwent extensive postoperative histopathological studies including special stains and immunohistochemistry. Genotype studies (reverse transcription polymerase chain reaction) were done to help in subtyping and prognostication, and it turned out to be a surprise as it showed positivity for PAX3-FOXO1 t (2;13) translocation which is almost exclusively seen with alveolar RMS. After that he successfully underwent chemotherapy and radiotherapy as it was an aggressive variant and has been disease free for the past 2 years. The author hopes that this case report will highlight the importance of high clinical suspicion in head and neck masses presenting in pediatric age group and to not rely solely on biopsy reports to confirm diagnosis, so that early detection will lead to successful therapy and outcome as exemplified in this case.    

2009 ◽  
Vol 127 (6) ◽  
pp. 382-384 ◽  
Author(s):  
Carlos Eduardo Molinari Nardi ◽  
Ricardo Adriano Nasser Barbosa da Silva ◽  
Cynthia Maria Massarico Serafim ◽  
Rogério Aparecido Dedivitis

CONTEXT: Parathyroid cysts are rare clinical and pathological entities, with less than 300 cases reported. The inferior parathyroid glands are most commonly involved, with left-side predominance. Parathyroid cysts may be functional or nonfunctional, depending on their association with hypercalcemia. CASE REPORT: A 25-year-old man presented a palpable asymptomatic left-side neck mass. Ultrasound revealed a cystic structure contiguous with the left thyroid lobe. Serum ionic calcium was normal. The patient underwent left thyroid lobectomy plus isthmectomy with excision of the cyst. The histological findings revealed a parathyroid cyst. Parathyroid cysts typically present as asymptomatic neck masses, and surgical excision appears to be the treatment of choice.


2012 ◽  
Vol 5 (1) ◽  
pp. 2101791285670486
Author(s):  
Marcel-Philipp Henrichs ◽  
Arne Streitbürger ◽  
Georg Gosheger ◽  
Carsten Surke ◽  
Christian Dierkes ◽  
...  

2021 ◽  
Author(s):  
Nuno Oliveira ◽  
Sofia Carvalho ◽  
Paulo Cunha ◽  
Joni Nunes ◽  
Pedro Varanda ◽  
...  

Abstract PurposeTo describe a very rare case of Synovial Sarcoma affecting cervical spine vertebra.SS is a rare malignant and aggressive soft tissue tumour arising from mesenchymal cells. Primary bone origin SS is a much rarer entity that affects more commonly long bones. Ideal therapeutic strategy is yet to be defined due to very small number of cases reported so far.Case reportA 55-year-old male, construction worker, with no other relevant medical history presented with a progressive tetraparesis after recurring several times during a 4-week period to assistant physician and emergency department complaining about bilateral shoulder pain. Image studies revealed an osteolytic lesion centred on C4 vertebra with intracanalar and intraforaminal extension, causing neurologic compression. Patient was submitted to urgent surgical decompression intervention. C3 and C4 corpectomy and excisional biopsy followed by stabilization with C2-C5 arthrodesis.OutcomesNeurological deficits did not improve after surgery. Histopathological and immunohistochemical analysis revealed phenotypical characteristics of a biphasic Synovial Sarcoma. Patient died 4 weeks after surgery due to a respiratory tract infection.DiscussionSS is a malignant rare and aggressive soft tissue tumour that usually affects young adults. Very few cases of primary bone SS affecting the spine are described in literature. Imaging studies may suggest the diagnosis of synovial sarcoma but definitive diagnosis can only be confirmed by histological and immunohistochemical analysis.The rarity of these lesions demands high clinical suspicion for the diagnosis and due to the low number of cases reported ideal therapeutic strategy is yet to be defined.


1990 ◽  
Vol 15 (3) ◽  
pp. 362-365
Author(s):  
I. SHAJRAWI ◽  
U. Y. DREYFUSS ◽  
S. STAHL ◽  
J. H. BOSS

Intramuscular haemangioma, though benign, may be a serious disorder, because its large size can cause functional impairment, pain and disfigurement, which may require surgical excision. These, as well as the baffling histopathological aspects, are exemplified by this report of an intramuscular haemangioma of the forearm in an adolescent girl. Clinical recognition of a cutaneous angioma overlying a deeply-situated soft tissue tumour may aid the diagnosis of an intramuscular haemangioma.


2017 ◽  
Vol 5 (5) ◽  
pp. 696-697
Author(s):  
Georgi Tchernev ◽  
Hristo Mangarov ◽  
Anastasiya Atanasova Chokoeva

A 40-year-old Caucasian, the otherwise healthy male patient, presented with 3-years history of a prominent tumor-like formation, located on his back, without subjective complaints. Initially, the lesion was 1-2 cm in size but gradually increased to a visible-pronounced tumor-like formation. No other dermatologic diseases, neither other known abnormalities were reported for the medical and family history.  Softly-elastic on palpation tumor-like formation was established in the left infrascapular area of the back, measuring 8/9 cm in diameter. The lesion was clinically suspected for lipoma or another soft-tissue tumour with benign nature, so the patient underwent planned surgical excision under local anaesthesia. A tumour was excited with deep elliptical excision and furthered for histological evaluation, while the wound edges were sutured with single cutaneous stitches. Additionally, a large black-colored tattoo of the Bulgarian historical noble Khan Krum was also observed within the clinical examination, covering almost the whole upper 1/3 part of the patient’s back Within the careful clinical observation of the tattoo, we noticed a fibroma-like lesion, affecting the noble’s right iris. Fibromas are common benign tumours in Caucasians, composed of fibrous or connective tissue. They can be seen in all organs from mesenchymal tissue, in varies size. Eyelids are often commonly affected in elderly. Although very commonly seen in every day dermatological practice, fibromas have been never reported, located in the iris. In the presented case, a small ʺiris-fibromaʺ, hidden within a black-colored tattoo was diagnosed in a patient with lipoma, as a sporadic clinical finding.


Hand Surgery ◽  
2004 ◽  
Vol 09 (01) ◽  
pp. 117-120 ◽  
Author(s):  
Roop Singh ◽  
Ashwini K. Sharma ◽  
Rajeev Sen

Nodular fasciitis is an uncommon, benign, reactive fibroblastic soft tissue tumour. It is infrequently seen in the hand. A case of nodular fasciitis involving the thumb of a 34-year-old male is reviewed, and its clinicopathologic features are presented. Main significance lies in clinical and pathological recognition of the lesion to avoid over-treatment.


2010 ◽  
Vol 18 (1) ◽  
pp. 118-121 ◽  
Author(s):  
Hiroaki Kato ◽  
Kazuto Nishimoto ◽  
Tomoaki Yoshikawa ◽  
Katsuyuki Kusuzaki ◽  
Akihiro Sudo

BJS Open ◽  
2021 ◽  
Vol 5 (Supplement_1) ◽  
Author(s):  
Lotte Hardman ◽  
Mina Ibriham ◽  
Roba Khundkar ◽  
Paul Wilson ◽  
Lotte Hardman

Abstract Introduction The classification of soft tissue and bone neoplasms is experiencing a transformation as methods to detect gene fusions expand. Next-generation sequencing panels, anchored multiplex polymerase chain reaction systems and comprehensive RNA sequencing have all contributed to new histological categorisation. The EWSR1-NFATC2 is one such novel translocation found in a round cell sarcomas. These sarcoma sit within the WHO group of undifferentiated round and spindle cell sarcomas. They presents as either a primary bone or soft tissue tumour and exhibits distinctive histopathologic features. Methods This is a case study of a soft tissue mesenchymal tumour with the recently described gene fusion EWSR1-NFATC2. The case is described, with 3-month outcomes and considered in the most recent literature on this sarcoma subset (26 cases). Results This case study prompted a look at the current NHS paradigm for these emerging histopathologically distinctive sarcoma subgroups. At present the expertise with the sarcoma MDT, along with second opinion from other national MDTs is the format for subtype specific sarcoma management, informed by recent literature. Conclusion The EWSR1-NFATC2 fusion round cell sarcoma tumours are an example of a very recently emerged sarcoma subset which display oncological variance to the wider Ewing’s family. The novel literature guided the Southmead and Royal Marsden MDT opinions to proceed straight to surgical excision. The Authors recommend a national prospective database for rare sarcoma subsets, particularly those that appear to exhibit distinctive clinicopathology characteristics. The format could be through the RSTN collaborative, secure anonymised data collection can be collected through REDCap.


2021 ◽  
Vol 11 (4) ◽  
pp. 100-102
Author(s):  
Jayakar Thomas

Aggressive Angiomyxoma is a very rare, distinctive, locally invasive soft tissue tumour, that occurs most commonly in the perineum, pelvis, vulva and vagina. It is seen mostly in women of reproductive age group. It has a tendency for recurrence locally, treatment being surgical excision. We hereby describe a case of 38-year-old patient with a pedunculated growth on the right labium majora.


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