Olaparib effectively treats local recurrence of extrahepatic cholangiocarcinoma in a patient harboring a BRCA2-inactivating mutation: a case report

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

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Schwannoma aurikula dekstra yang meluas ke kanalis auditorius eksternus

Oto Rhino Laryngologica Indonesiana ◽

10.32637/orli.v47i1.198 ◽

2017 ◽

Vol 47 (1) ◽

pp. 74

Author(s):

Astin Prima Sari ◽

Dian Ayu Ruspita

Keyword(s):

Case Report ◽

Local Recurrence ◽

Schwann Cells ◽

Case Reports ◽

Excisional Biopsy ◽

Benign Tumors ◽

Clinical Question ◽

Histopathologic Examination ◽

Age And Sex

Latar belakang: Schwannoma merupakan tumor jinak yang berasal dari sel Schwann. InsidenSchwannoma aurikula sangat jarang. Sebagian besar yang terjadi adalah Schwannoma vestibular.Penatalaksanaaan dengan ekstirpasi secara in toto dapat mencegah kekambuhan.Tujuan: Melaporkansatu kasus jarang, yaitu Schwannoma aurikula yang meluas ke kanalis auditorius eksternus (KAE).Kasus: Anak laki-laki usia 3 tahun datang dengan keluhan muncul benjolan pada daun telinga kiri sejak 6bulan terakhir, yang membesar perlahan hingga menutupi liang telinga. Dilakukan ekstirpasi biopsi padamassa tumor, dengan pendekatan retroaurikula. Massa dapat dilepas secara in toto. Hasil histopatologikesan Schwannoma. Enam bulan pasca operasi tidak didapatkan kekambuhan.Metode: Penelusurankepustakaan didapatkan 5 jurnal laporan kasus yang relevan.Hasil: Dari 5 kasus, seluruhnya melakukanekstirpasi massa Schwannoma secara in toto. Terdapat 2 kasus mengunakan pendekatan transmeatal, 2kasus dengan pendekatan retroaurikula, dan 1 kasus ekstirpasi langsung pada aurikula.Kesimpulan:Schwannoma aurikula merupakan kasus yang sangat jarang. Tidak ada kecenderungan usia maupun jeniskelamin tertentu. Penanganan dengan ekstirpasi yang komplit dapat mencegah kekambuhan.Kata kunci: Schwannoma aurikula, ekstirpasi, insisi retroaurikula ABSTRACTBackground: Schwannoma is a Schwann cells benign tumors. The incidence of auricularSchwannoma is rare. The most common is vestibular Schwannoma. Treatment of choice is completesurgical excision, and recurrence is rare. Purpose: Reporting a rase case of an auricular Schwannomathat spread to external auditory canals. Case: A three years old boy presented with a swelling in the leftauricular for 6 months, which was progressively increasing and spread into external auditory canals.An excisional biopsy via postauricular was performed under general anesthesia. The mass was totallyremoved. Diagnosis was reported to be Schwannoma by histopathologic examination. There was no signsof local recurrence during a 6 months of follow-up period. Method: Search literatures for evidence found5 case report journals were relevant to our clinical question. Result: From the 5 journals, all of themopted to do total excisional removal, 2 cases by transmeatal incision, 2 cases by postauricular incision,and 1 case by direct incision of the auricular mass. Conclusion: Auricular schwannoma is a rare case.Previous case reports showed no sufficient relevance on the age and sex tendency to the occurence ofauricular Schwannoma. A complete extirpation can prevent recurrence.Key words: Auricular schwannoma, extirpation, postroauricular incision

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Multiple Pulmonary Metastases of Giant Cell Tumor of Bone with expression of VEGFR-2 Successfully Treated by Denosumab and Apatinib: A Rare Case Report

10.21203/rs.3.rs-221200/v1 ◽

2021 ◽

Author(s):

taojun gong ◽

Yi Luo ◽

Yitian Wang ◽

Chuanxi Zheng ◽

Jianguo Fang ◽

...

Keyword(s):

Computed Tomography ◽

Case Report ◽

Local Recurrence ◽

Giant Cell Tumor ◽

Giant Cell ◽

Pulmonary Metastases ◽

Cell Tumor ◽

Wide Resection ◽

High Tendency ◽

Bony Destruction

Abstract Background: Giant cell tumor of bone (GCTB) is a rare benign but locally aggressive bone tumor. It has a high tendency for local recurrence, which may increase the occurrence of lung metastasis. Currently, the treatment of pulmonary metastases of GCTB is controversial. Denosumab is the preferred regimen for unresectable metastatic lesions, but there are no alternative treatment options when denosumab is resistant. So far, no case reports of metastatic GCTB treated with denosumab and apatinib have been published. Case presentation: This is a case report of a 26-year-old female who experienced right knee pain for over 6 months. Radiography and computed tomography revealed osteolytic bony destruction in the proximal right tibia. Using histological, radiological, and clinical techniques, a diagnosis of GCTB was achieved. Meanwhile, the immunohistochemical stain-identified the tumor cells were positive for vascular endothelial growth factor receptor 2 (VEGFR-2). After intralesional curettage of the primary tumor and wide resection of local recurrence surgeries, she developed recurrent hemoptysis. Chest computed tomography (CT) images showed multiple pulmonary nodules. She was administrated denosumab therapy but disease progression was confirmed after four months of treatment. She then received denosumab and apatinib therapy for 24 months, after a partial response was achieved.Conclusions: We depict a case of multiple pulmonary metastases of GCTB successfully controlled by denosumab and apatinib therapy. VEGFR-2 may be an effective therapeutic target for GCTB with pulmonary metastasis when denosumab is ineffective.

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A Well-Differentiated Liposarcoma in the Digit: A Case Report of the 5-Year Post-Surgical Follow-Up

The Journal of Hand Surgery (Asian-Pacific Volume) ◽

10.1142/s242483551872027x ◽

2018 ◽

Vol 23 (03) ◽

pp. 415-418

Author(s):

Sakiko Mizuno ◽

Kensuke Ochi ◽

Jun Miyauchi ◽

Itsuo Watanabe ◽

Hiraku Hotta ◽

...

Keyword(s):

Case Report ◽

Local Recurrence ◽

Hand Function ◽

Middle Finger ◽

Imaging Findings ◽

Lipomatous Tumor ◽

Imaging Examination ◽

Well Differentiated

A liposarcoma is extremely rare in the digits. A 73-year-old woman was diagnosed with a lipoma in her middle finger 10 years ago. As this tumor increased in size and presented with imaging findings that were atypical of lipomas, careful marginal resection biopsy outside the pseudo-capsule was performed, and the tumor was diagnosed as a well-differentiated liposarcoma. At the 5-year follow-up, the patient showed no evidence of local recurrence or metastasis, with no loss of hand function. The findings from this case suggest that even for a lipomatous tumor in the digits, further imaging examination and resection biopsy should be considered if the tumor presents with features that are atypical of lipomas.

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Does high-grade dysplasia/carcinoma in situ of the biliary duct margin affect the prognosis of extrahepatic cholangiocarcinoma? A meta-analysis

World Journal of Surgical Oncology ◽

10.1186/s12957-019-1749-7 ◽

2019 ◽

Vol 17 (1) ◽

Cited By ~ 2

Author(s):

Qiao Ke ◽

Bin Wang ◽

Nanping Lin ◽

Lei Wang ◽

Jingfeng Liu

Keyword(s):

Local Recurrence ◽

Carcinoma In Situ ◽

Meta Analysis ◽

Surgical Margin ◽

High Grade Dysplasia ◽

Cochrane Library ◽

Biliary Duct ◽

High Grade ◽

Extrahepatic Cholangiocarcinoma

Abstract Background High-grade dysplasia/carcinoma in situ (HGD/CIS) of the biliary duct margin was found to not affect the prognosis of patients with extrahepatic cholangiocarcinoma by recent studies, but it has not yet reached a conclusion. Methods Eligible studies were searched by PubMed, PMC, MedLine, Embase, the Cochrane Library, and Web of Science, from Jan. 1, 2000 to Jun. 30, 2019, investigating the influences of surgical margin status of biliary duct on the prognosis of patients with resectable extrahepatic cholangiocarcinoma. Overall survival (OS) and local recurrence were evaluated by odds ratio (OR) with 95% confidence interval (CI). Results A total of 11 studies were enrolled in this meta-analysis, including 1734 patients in the R0 group, 194 patients in the HGD/CIS group, and 229 patients in the invasive carcinoma (INV) group. The pooled OR for the 1-, 2-, and 3-year OS rate between HGD/CIS group and R0 group was 0.98 (95% CI 0.65~1.50), 1.01 (95% CI 0.73~1.41), and 0.98 (95% CI 0.72~1.34), respectively. The pooled OR for the 1-, 2-, and 3-year OS rate between HGD/CIS group and INV group was 1.83 (95% CI 1.09~3.06), 4.52 (95% CI 2.20~9.26), and 3.74 (95% CI 2.34~5.96), respectively. Subgroup analysis of extrahepatic cholangiocarcinoma at early stage showed that the pooled OR for the 1-, 2-, and 3-year OS rate between HGD/CIS group and R0 group was 0.54 (95% CI 0.21~1.36), 0.75 (95% CI 0.35~1.58), and 0.74 (95% CI 0.40~1.37), respectively, and the pooled OR for the 1-, 2-, and 3-year OS rate between HGD/CIS group and INV group was 3.47 (95% CI 1.09~11.02), 9.12 (95% CI 2.98~27.93), and 9.17 (95% CI 2.95~28.55), respectively. However, the pooled OR for the incidence of local recurrence between HGD/CIS group and R0 group was 3.54 (95% CI 1.66~7.53), and the pooled OR for the incidence of local recurrence between HGD/CIS group and INV group was 0.93 (95% CI 0.50~1.74). Conclusion With the current data, we concluded that HGD/CIS would increase the risk of local recurrence compared with R0, although it did not affect the prognosis of patients with extrahepatic cholangiocarcinoma regardless of TNM stage. However, the conclusion needs to be furtherly confirmed.

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