Sustained response to imatinib in patient with extraskeletal myxoid chondrosarcoma and novel KIT mutation

A 55-year-old woman presented with a 3-month history of right groin swelling, discomfort and impaired mobility. On examination, a palpable mass was noted both to the right of midline in the lower abdomen and in the right groin. MRI of the pelvis showed two masses involving the anterior abdominal wall and right groin, as well as lymph node involvement. CT imaging revealed multiple bilateral pulmonary metastases. Pathology demonstrated a myxohayline stroma morphology. Tumour was also notable for NR4A3 gene region rearrangement and mutation in KIT exon 11 at position c.1669 T>G. Based on these findings, she was diagnosed with extraskeletal myxoid chondrosarcoma (EMC). The patient has been on imatinib, a tyrosine kinase inhibitor with activity against KIT, for 3 years with stable disease. Metastatic EMC is generally treated with surgical resection and perioperative radiation therapy with adjuvant chemotherapy and is associated with poor prognosis.

Download Full-text

Periosteal Myxoid Leiomyosarcoma Histologically Mimicking Extraskeletal Myxoid Chondrosarcoma: Report of a Case with Histopathological and Cytopathological Comparison with Extraskeletal Myxoid Chondrosarcoma

Acta Cytologica ◽

10.1159/000518004 ◽

2021 ◽

pp. 1-8

Author(s):

Yoshinao Kikuchi ◽

Shiori Watabe ◽

Asako Yamamoto ◽

Kenji Sato ◽

Wataru Fujinuma ◽

...

Keyword(s):

Tumor Cells ◽

Final Diagnosis ◽

Diagnostic Error ◽

Wide Resection ◽

Extraskeletal Myxoid Chondrosarcoma ◽

Palpable Mass ◽

Myxoid Chondrosarcoma ◽

Reticular Pattern ◽

Biopsy Examination ◽

The Right

Myxoid leiomyosarcoma (MLS) is a rare variant of leiomyosarcoma, with most cases occurring in the uterus. A case of MLS arising in the periosteal region of the tibia, mimicking extraskeletal myxoid chondrosarcoma (EMC), is described. The evaluation included histological and cytological comparison with EMC. The patient was a 77-year-old man with a palpable mass at the anterior aspect of the right lower leg. After diagnosis by cytopathology and biopsy examination, a wide resection was performed. The resulting cytological smears were composed primarily of spindle-shaped tumor cells in a myxoid and hemorrhagic background. Histologically, the tumor showed abundant myxoid matrix and tumor cells proliferating in a cord-like to reticular pattern, exhibiting a lace-like arrangement that mimicked EMC. Although immunohistochemical findings suggested leiomyosarcoma, a diagnosis of EMC eventually was excluded by the lack of a split signal when assessed for a rearrangement of NR4A3 by chromogenic in situ hybridization. Despite histological similarity to EMC, characteristic cytological findings of EMC such as epithelioid structures with a cord-like pattern and chondroblast-like lacunar structures were not observed in the smears of this patient’s MLS. We propose that cytopathological examination of bone and soft tissue lesions is useful as a diagnostic tool in similar cases. A total diagnostic workup, including clinical, radiographic, cytopathological, histopathological, and molecular findings, is needed to ensure an accurate final diagnosis and to reduce diagnostic error.

Download Full-text

Extranodal Rosai-Dorfman disease: an uncommon cause of persistent nodule in the ear

The Journal of Laryngology & Otology ◽

10.1017/s0022215100119188 ◽

1992 ◽

Vol 106 (3) ◽

pp. 249-251 ◽

Cited By ~ 15

Author(s):

W. Y. W. Tsang ◽

J. K. C. Chan ◽

W. K. Ho ◽

H. C. Yu ◽

L. T. C. Chow

Keyword(s):

Lymph Node ◽

Lymph Node Involvement ◽

Rosai Dorfman Disease ◽

S 100 ◽

Node Involvement ◽

The Right

AbstractA 40-year-old woman presented with a nodule over the tragus of the right ear. A biopsy was initially reported as showing non-specific inflammation. In view of the persistence of the lesion, the histological material was reviewed, leading to revision of the diagnosis to Rosai-Dorfman disease, a diagnosis further confirmed by immunoreactivity of the histiocytes for s-100 protein. This case represented the extranodal form of Rosai-Dorfman disease in the absence of lymph node involvement.

Download Full-text

Dystrophic Calcifications in the Breast from Secondary Hyperparathyroidism

Breast Care ◽

10.1159/000484198 ◽

2017 ◽

Vol 13 (1) ◽

pp. 44-46 ◽

Cited By ~ 1

Author(s):

Kyoung Min Lee ◽

Jee Eun Lee ◽

Eun Suk Cha ◽

Jin Chung ◽

Jeoung Hyun Kim ◽

...

Keyword(s):

Secondary Hyperparathyroidism ◽

Correct Diagnosis ◽

Term Treatment ◽

Dystrophic Calcification ◽

Palpable Mass ◽

Long Term Treatment ◽

History Of ◽

The Right ◽

Stage Renal Disease ◽

End Stage

Background: Soft tissue calcification is common in patients with secondary hyperparathyroidism who have received long-term treatment with hemodialysis. However, calcifications in the breast parenchyma are not common. We report a case of a woman with dystrophic breast calcifications from secondary hyperparathyroidism. Case Report: A 65-year-old woman presented with a palpable mass in her right breast which she had discovered 1 month ago. She had a medical history of end-stage renal disease. Mammography and ultrasound revealed large dystrophic calcifications in both breasts. Core needle biopsy was performed for calcifications in the right breast, and the pathologic diagnosis was dystrophic calcification in the stroma from secondary hyperparathyroidism. Conclusion: Reviewing our case will contribute to a fast and correct diagnosis in patients with dystrophic breast calcifications and lab results indicating secondary hyperparathyroidism, and will help discriminate these benign lesions from malignancies.

Download Full-text

Extraskeletal Myxoid Chondrosarcoma: Long-Term Survival in the Setting of Metastatic Disease

Case Reports in Orthopedics ◽

10.1155/2020/2684746 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4

Author(s):

Karim Masrouha ◽

Iqbal Multani ◽

Om Bhatt ◽

Michelle Ghert

Keyword(s):

Pulmonary Metastases ◽

Extraskeletal Myxoid Chondrosarcoma ◽

Term Survival ◽

Long Term Survival ◽

Myxoid Chondrosarcoma ◽

Systemic Intervention ◽

Slow Progression ◽

Close Observation ◽

History Of

Three cases of extraskeletal myxoid chondrosarcoma (EMC) in patients who presented with pulmonary metastases and were managed with long-term close observation without systemic intervention are presented. Follow-up imaging showed slow progression of their disease over several years, and the patients remained asymptomatic from their pulmonary metastases. This clinical experience provides insight into the natural history of the disease and suggests that some patients may experience long-term survival and remain asymptomatic even without systemic intervention, thereby improving their quality of life by avoiding potentially debilitating treatments.

Download Full-text

Tuberculosis of the parotid gland

The Journal of Laryngology & Otology ◽

10.1017/s0022215100141180 ◽

1998 ◽

Vol 112 (6) ◽

pp. 588-591 ◽

Cited By ~ 26

Author(s):

Yusufhan Süoǧlu ◽

Burak Erdamar ◽

İsmail Çölhan ◽

O. Sami Katircioǧlu ◽

Uǧur Çevikbas

Keyword(s):

Lymph Node ◽

Parotid Gland ◽

Previous History ◽

Lymph Node Involvement ◽

Diagnostic Tools ◽

Superficial Parotidectomy ◽

Parotid Neoplasm ◽

Node Involvement ◽

History Of ◽

One Year

AbstractThe presentation of tuberculosis as an isolated parotid lump is rare. In this paper, six cases with tuberculous parotitis are reported which were evaluated as a benign parotid neoplasm in 216 specimens pre-operatively. All but one of them had no previous history of tuberculosis and all had a parotid lump as a sole symptom for at least one year. The diagnosis of tuberculosis was made, after superficial parotidectomy, by histopathology. Parenchymal involvement and intraparotid lymph node involvement with tuberculosis were seen in five and three patients, respectively. Two of the patients had lymph node involvement outside the parotid area. One of six patients had a coincidental Warthin tumour. A surgical approach is not only therapeutic but also diagnostic when other diagnostic tools fail.

Download Full-text

Extraskeletal Myxoid Chondrosarcoma with Small Bowel Metastasis Causing Bowel Obstruction

Case Reports in Oncological Medicine ◽

10.1155/2012/621025 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Ernesto Bustinza-Linares ◽

Francisco Socola ◽

Vinicius Ernani ◽

Shelly A. Miller ◽

Jonathan C. Trent

Keyword(s):

Small Bowel ◽

Medical Community ◽

Low Grade ◽

Extraskeletal Myxoid Chondrosarcoma ◽

Myxoid Chondrosarcoma ◽

Small Bowel Metastasis ◽

First Case ◽

Mesenteric Fat ◽

History Of ◽

Hemoccult Test

A 28-year-old female with history of chest wall extraskeletal myxoid chondrosarcoma (EMC) presented to the emergency department complaining of two weeks of lightheadedness and fatigue. Laboratories showed hemoglobin of 7.6 g/dL and a positive hemoccult test. Upper and lower endoscopies were unremarkable, and the patient was discharged after blood transfusion. The next day she returned to the ED with left-sided weakness and perioral numbness. Brain CT scan revealed a 6 cm right frontal mass with midline shift and edema that required urgent craniotomy with resection of a hemorrhagic tumor. The patient continued dropping her hemoglobin, and CT scans showed a rounded 3 cm small bowel mass in the mid ileum. Repeat upper endoscopy revealed a 2 × 2 cm ulcerated mass in the fourth portion of the duodenum. The patient was taken to the operating room and was found to have two lesions; one in the distal duodenum and a second one in the mid ileum causing small bowel intussusception. Pathology was consistent with metastatic EMC grade 2/3, involving the bowel and mesenteric fat. Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft-tissue sarcoma with unique features that distinguishes, it from other sarcomas. It has been often described as a low-grade sarcoma although there are certain characteristics like high mitotic activity and the presence of focal regions of Ki67 staining above 25% that correlate with aggressive behavior of the tumor. This is the first case of EMC metastatic to the small bowel to be reported to the medical community.

Download Full-text

Cutaneous Hyperpigmentation and Familial Gastrointestinal Stromal Tumor Associated With Germline KIT Mutation Treated With Imatinib: A Chinese Case Report

10.21203/rs.3.rs-85318/v1 ◽

2020 ◽

Author(s):

Wei Yuan ◽

Wen Huang ◽

Lei Ren ◽

Jinghuan Lv ◽

Chen Xu ◽

...

Keyword(s):

Abdominal Pain ◽

Gastrointestinal Stromal Tumor ◽

Mutational Analysis ◽

Direct Sequencing ◽

Correct Diagnosis ◽

Stromal Tumor ◽

Kit Mutation ◽

History Of ◽

Exon 11 ◽

Cells Of Cajal

Abstract BackgroundFamilial gastrointestinal stromal tumor (GIST) has been identified with multiple GISTs harboring the mutations in germline KIT and PDGFRA. There are only 35 kindreds with germline KIT and 6 with PDGFRA mutations have been reported to date. Familial GIST is often characterized by a series of manifestations, such as multiple lesions, hyperpigmentation, mastocytosis, and dysphagia. Only some kindreds have response to imatinib treatment.Materials and MethodsA 25-year-old Chinese woman presented to the hospital with abdominal pain, and computed tomography (CT) scan showed multiple tumors in the small intestine. Her father had a history of multifocal GISTs, and referred to the hospital with abdominal pain and tumor recurrences last year. Immuhistochemical analysis of CD117 and DOG-1 were performed on tumor samples from the two patients, while KIT mutational analysis was carried out by direct sequencing on DNA from paraffin-embedded specimens and saliva sample.ResultsMultiple GISTs associated with diffuse interstitial cells of Cajal (ICC) hyperplasia were illustrated in these two patients. These tumors were positive for CD117 and DOG-1. The germline mutation at codon 560 of exon 11 (p.V560G) of the KIT gene were found. Treatment with imatinib resulted in favorable responses in both tumor and cutaneous hyperpigmentation.ConclusionsIt is difficult to make a correct diagnosis of familial GIST at first time due to its rarity. This case was finally diagnosed as familial GIST depending on the combination of diffuse ICC hyperplasia, germline KIT mutation, hyperpigmentation and its family history.

Download Full-text

545 INCIDENCE OF INVOLVEMENT OF PARATRACHEAL LYMPHNODES IN SIEWERT AEG-I TUMORS

Diseases of the Esophagus ◽

10.1093/dote/doab052.545 ◽

2021 ◽

Vol 34 (Supplement_1) ◽

Author(s):

Johannes Zacherl ◽

Wolfgang Radlspöck ◽

Said Albinni ◽

Cordula Höfle ◽

Viktoria Kertesz ◽

...

Keyword(s):

Lymph Node ◽

Lymph Nodes ◽

Vena Cava ◽

Lymph Node Involvement ◽

Type I ◽

Transthoracic Esophagectomy ◽

Observation Study ◽

Ivor Lewis ◽

Node Involvement ◽

The Right

Abstract Transthoracic esophagectomy with 2-field-lymphadenectomy (LAD) is the state of the art treatment of resectable adenocarcinoma of the distal esophagus (Siewert-Stein AEG type I) and may be performed in AEG II cardia cancers. However, it remains unclear whether paratracheal LAD contributes to a survival benefit. In this study we collected data regarding lymph node involvement of paratracheal nodes. Methods From 2014 to 2019 consecutive patients were included in the prospective analysis. Patients underwent hybrid or open Ivor Lewis esophagectomy and 2-field LAD. Paratracheal tissue was removed from the right side of the trachea along the superior vena cava above the azygos vein up to the the upper thoracic aperture. Paratracheal lymph nodes were histologically evaluated separately from the nodes of other stations. Results Ninety-five consecutive patients (12 were female, mean age 67, sd 10, AEG I 84, AEG II 11) were included in the prospective observation study. Seventy-two and 5 patients preoperatively received chemotherapy or radiochemotherapy, respectively. All of them underwent transthoracic esophagectomy (Ivor Lewis 93, McKeown 2—because of coexisting ultralong segment Barrett esophagus). Overall the mean (sd) lymph node count was 37 (12). In the right paratracheal region we found a median of 6 lymph nodes (range;1–22). In 42 (44%) patients positive lymph nodes were recorded, but there was no case with right paratracheal node involvement. Conclusion In the present study paratracheal lymph node involvement was evaluated after transthoracic esophagecotmy with 2-field lymphadenectomy. Remarkably, despite a high proportion of overall lymphatic involvement we did not observe any paratracheal nodal metastasis. Larger studies may show whether paratracheal lyphmadenectomy is necessary during radical esophagectomy for AEG I and AEG II cancers.

Download Full-text

A case report of long-term survival of metastatic extraskeletal myxoid chondrosarcoma treated with surgery and hypofractionated radiotherapy

Journal of Radiotherapy in Practice ◽

10.1017/s1460396914000284 ◽

2014 ◽

Vol 13 (4) ◽

pp. 493-497

Author(s):

Haoming Qiu ◽

Mary Hare ◽

Yuhchyau Chen

Keyword(s):

Case Report ◽

Surgical Excision ◽

Hypofractionated Radiotherapy ◽

Extraskeletal Myxoid Chondrosarcoma ◽

Term Survival ◽

Myxoid Chondrosarcoma ◽

History Of ◽

Locally Recurrent ◽

Control Disease

AbstractWe describe the case of a patient with a 10-year history of metastatic extraskeletal myxoid chondrosarcoma (EMC), who underwent repeated surgical excision and ten courses of hypofractionated radiotherapy to locally recurrent or metastatic disease. We review the literature on EMC’s and propose that surgery and radiotherapy can be used to control disease progression and palliate symptoms for extended periods of time with acceptable toxicity profiles.

Download Full-text

Clinical Epidemiological Study of Oral Pre-cancer and Cancer in a Tertiary/Referral Hospital

Annals of the National Academy of Medical Sciences (India) ◽

10.1055/s-0040-1712617 ◽

2016 ◽

Vol 52 (03) ◽

pp. 155-165

Author(s):

Sadaksharam Jayachandran

Keyword(s):

Oral Cancer ◽

Tamil Nadu ◽

Lymph Node Involvement ◽

Premalignant Lesions ◽

Tertiary Referral Hospital ◽

Clinical Criteria ◽

Mucosal Site ◽

Node Involvement ◽

History Of ◽

Well Differentiated

Abstract Aim: To study the prevalence of oral cancer in patients reported to the Department of Oral Medicine and Radiology, Tamil Nadu Government Dental College and Hospital. Materials and Methods: After selecting the patients with the clinical criteria the history of the habits, duration in months and frequency per day, duration of the symptoms, oral mucosal site involvement, lymph node involvement, associated with lesions were recorded in a structured proforma. Incisional biopsy under Local anaesthesia and histological examination was performed. The results obtained were analysed statistically. Results: 200 patients were diagnosed with oral cancer, 49% were male and 51% were females. In that 51(25%) were associated with premalignant lesions, 94 had only one habit, 74 had a combination of habits, 40% were histopathologically moderately differentiated followed by 33% poorly differentiated and 27% well differentiated. And patients with stage III (31%) and IV (43%) were reported predominantly than stage I (12%) and II (14%). Conclusion: Early diagnosis and intervention prevent the progression of oral cancer.

Download Full-text