scholarly journals Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

2021 ◽  
pp. mcs.a006127
Author(s):  
Natasha J. Brown ◽  
Zimeng Ye ◽  
Chloe Stutterd ◽  
Sureshni I. Jayasinghe ◽  
Amy Schneider ◽  
...  
Keyword(s):  
Adult Male ◽  
Spindle Cell ◽  
Malignant Tumors ◽  
Digital Pcr ◽  
Peripheral Blood Lymphocytes ◽  
Pcr Analysis ◽  
Gain Of Function ◽  
Maffucci Syndrome ◽  
Increased Risk ◽  
Spindle Cell Hemangioma

Maffucci Syndrome is a rare, highly variable somatic mosaic condition and well-known cancer related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported patients. Features include benign enchondroma and spindle cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 cases have been reported, therefore accurate estimates of malignancy risk are difficult to quantify and recommended surveillance guidelines are not available. The same gain-of-function IDH1 and IDH2 variants are also implicated in a variety of other benign and malignant tumors. An adult male presented with several soft palpable lesions on the right upper limb. Imaging and histopathology raised the possibility of Maffucci syndrome. DNA was extracted from peripheral blood lymphocytes and tissue surgically resected from a spindle-cell hemangioma. Sanger sequencing and Droplet-digital PCR analysis of the IDH1 gene was performed. We identified a somatic mosaic c.394C>T (p.R132C) variant in exon 5 of IDH1, in DNA derived from hemangioma tissue at ~ 17% mutant allele frequency. This variant was absent in DNA derived from blood. This variant has been identified in the affected tissue of most reported patients with Maffucci syndrome Although the patient has a potentially targetable variant, and there is a recognized risk of malignant transformation in this condition, a decision was made not to intervene with an IDH1 inhibitor. The reasons and prospects for therapy in this condition are discussed.

scholarly journals Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

2011 ◽  
Vol 43 (12) ◽  
pp. 1256-1261 ◽  
Author(s):  
Twinkal C Pansuriya ◽  
Ronald van Eijk ◽  
Pio d'Adamo ◽  
Maayke A J H van Ruler ◽  
Marieke L Kuijjer ◽  
...  
Keyword(s):  
Spindle Cell ◽  
Maffucci Syndrome ◽  
Ollier Disease ◽  
Idh1 And Idh2 Mutations ◽  
Spindle Cell Hemangioma

scholarly journals Maffucci Syndrome Complicated by Giant Chondrosarcoma in the Left Ankle with an IDH1 R132C Mutation: Case Report

2021 ◽  
Author(s):  
Haiyan Lv ◽  
Hantao Jiang ◽  
Minge Zhang ◽  
Huarong Luo ◽  
Zhenghua Hong ◽  
...  
Keyword(s):  
Case Report ◽  
Malignant Tumors ◽  
Tumor Development ◽  
Clinical Manifestations ◽  
Isocitrate Dehydrogenase 1 ◽  
Maffucci Syndrome ◽  
Left Ankle ◽  
Increased Risk ◽  
Amputation Surgery ◽  
Generation Sequencing

Abstract Background: Maffucci syndrome is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. It is associated with an increased risk of the development of malignant tumors. We present a case of 45-year-old man with Maffucci syndrome to supplement the clinical manifestations and explore the molecular mechanism of Maffucci syndrome.Results: The patient was underwent amputation surgery to inhibit tumor development and diagnosed as Maffucci syndrome with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis by Next Generation Sequencing revealed isocitrate dehydrogenase 1 R132C mutation in chondrosarcoma lesions but not in blood DNA. Conclusions: This case report presents the genetic evidence for the inclusion of chondrosarcoma among tumors characterizing Maffucci syndrome. Consequently, it is suggested that patients with Maffucci syndrome should be followed up more actively to exclude neoplasms due to IDH1 R132C somatic mutation.

EFFECTS OF SMOKING ON THE DISEASE PROGNOSIS IN CANCER PATIENTS

2019 ◽  
Vol 65 (3) ◽  
pp. 321-329
Author(s):  
David Zaridze ◽  
Anush Mukeriya
Keyword(s):  
Smoking Cessation ◽  
Cancer Patients ◽  
Malignant Tumors ◽  
Scientific Data ◽  
Second Primary ◽  
Primary Tumors ◽  
Smoking Intensity ◽  
Risk Of Death ◽  
Disease Prognosis ◽  
Increased Risk

Smoking not only increases the risk of the development of malignant tumors (MT), but affects the disease prognosis, mortality and survivability of cancer patients. The link between the smoking of cancer patients and increased risk of death by all diseases and oncological causes has been established. Mortality increases with the growth of the smoking intensity, i.e. the number of cigarettes, smoked per day. Smoking is associated with the worst general and oncological survivability. The statistically trend-line between the smoking intensity and survivability was observed: each additional unit of cigarette consumption (pack/year) leads to the Overall Survival Reduction by 1% (p = 0.002). The link between smoking and the risk of developing second primary tumors has been confirmed. Smoking increases the likelihood of side effects of the antitumor therapy both drug therapy and radiation therapy and reduces the treatment efficacy. The smoking cessation leads to a significant improvement in the prognosis of a cancer patient. Scientific data on the negative effect of smoking on the prognosis of cancer patients have a major clinical importance. The treatment program for cancer patients should include science-based methods for the smoking cessation. The latter is fundamentally important, taking into account that the smoking frequency among cancer patients is much higher than in the population.

Unsatisfactory response to sirolimus in Maffucci syndrome‐associated spindle cell hemangiomas

2019 ◽  
Vol 32 (3) ◽  
Author(s):  
Vishal Gupta ◽  
Asit Ranjan Mridha ◽  
Binod K. Khaitan
Keyword(s):  
Spindle Cell ◽  
Maffucci Syndrome

scholarly journals Anti-IL17 antibody Secukinumab therapy is associated with ossification in giant cell tumor of bone: a case report of pathologic similarities and therapeutic potential similar to Denosumab

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Andrew Chandler ◽  
Meredith K. Bartelstein ◽  
Tomohiro Fujiwara ◽  
Cristina R. Antonescu ◽  
John H. Healey ◽  
...  
Keyword(s):  
Psoriatic Arthritis ◽  
Giant Cell Tumor ◽  
Giant Cell ◽  
Therapeutic Potential ◽  
Quantitative Polymerase Chain Reaction ◽  
Treatment Method ◽  
Giant Cells ◽  
Cell Tumor ◽  
Pcr Analysis ◽  
Increased Risk

Abstract Background Giant cell tumor of bone is a benign, locally aggressive neoplasm. Surgical resection is the preferred treatment method. However, for cases in which resection poses an increased risk to the patient, denosumab (anti-RANKL monoclonal antibody) is considered. Secukinumab is an anti-IL-17 antibody that is used in psoriatic arthritis to reduce bone resorption and articular damage. Case presentation One case of giant cell tumor of bone (GCTB) in a patient treated with secukinumab for psoriatic arthritis demonstrated findings significant for intra-lesional calcifications. Histologic examination showed ossification, new bone formation, and remodeling. A paucity of osteoclast type giant cells was noted. Real-time quantitative polymerase-chain-reaction (qRT-PCR) analysis revealed decreased osteoclast function compared to treatment-naive GCTB. Conclusions Secukinumab may play a role in bone remodeling for GCTB. Radiologists, surgeons, and pathologists should be aware of this interaction, which can cause lesional ossification. Further research is required to define the therapeutic potential of this drug for GCTB and osteolytic disease.

scholarly journals Tuberculosis in patient with psoriasis receiving biologic therapy – case report

2020 ◽  
Author(s):  
Beata Wańczyk-Dręczewska ◽  
Agnieszka O wczarczyk-Saczonek ◽  
Waldemar Placek
Keyword(s):  
Biological Treatment ◽  
Biological Therapy ◽  
Malignant Tumors ◽  
Inhibitor Therapy ◽  
Interleukin 17 ◽  
Dermatology Clinic ◽  
Increased Risk ◽  
Tnf Α ◽  
Adalimumab Therapy ◽  
Factor Α

Introduction: The introduction of biological therapy has revolutionized the treatment of psoriasis. Due to its immunosuppressive effect, the following side effects might occur: injection-site reactions, exacerbation of autoimmune diseases, increased risk of malignant tumors and infections, including tuberculosis (TB). Aim: The aim of this report is to present a case of a patient who developed TB during tumornecrosis factor α (TNF-α) inhibitor therapy. Case study: A 52-year-old man was admitted to the Dermatology Clinic for re-qualification for biological treatment with adalimumab. The patient was treated with cyclosporin A and lefludomide combined with methotrexate with no effect and the adalimumab therapy was initiated with complete remission of psoriatic lesions. The patient was suspended in the drug program because of TB. TNF-α inhibitor therapy was resumed after antimycobacterial treatment, during which lymphadenopathy was observed and serous TB was confirmed. Three months after the treatment, the patient was rehospitalized because of suspicion of TB relapse. It was decided to requalify the patient for biological therapy after completion of antimycobacterial treatment. Due to the high risk of TB recurrence, switch to the interleukin-17 inhibitor was decided. Results and discussion: The proper qualification and thorough testing before biological treatment ensures patients’ safety and satisfactory therapeutic effect. It should be remembered that during longterm therapy with TNF antagonists, both reactivation of latent TB as well as new infection are serious problems. Therefore, regular tests should be performed, especially in countries with high prevalence of this disease. Conclusions: In patients who develop TB, particularly recurrent, switching to a drug with a different mechanism should be considered.

scholarly journals Spindle Cell Hemangioma and Decorin Expression

2012 ◽  
Vol 02 (01) ◽  
pp. 8-10
Author(s):  
Daiki Rokunohe ◽  
Hitoshi Takeda ◽  
Takahide Kaneko ◽  
Takayuki Aizu ◽  
Eijiro Akasaka ◽  
...  
Keyword(s):  
Spindle Cell ◽  
Spindle Cell Hemangioma

scholarly journals Paratesticular Embryonal Rhabdomyosarcoma with Lung Metastasis – A Rare Case Report

2020 ◽  
Vol 7 (11) ◽  
pp. C164-168
Author(s):  
Anusha Ganapathi ◽  
Thanka J ◽  
Lawrence D'Cruze ◽  
Barathi G ◽  
Natarajan K ◽  
...  
Keyword(s):  
Lung Metastasis ◽  
Spermatic Cord ◽  
Rare Case ◽  
Spindle Cell ◽  
Malignant Tumors ◽  
Embryonal Rhabdomyosarcoma ◽  
Cell Component ◽  
Testicular Tumors ◽  
Spindle Cell Component ◽  
Rare Case Report

Paratesticular rhabdomyosarcomas (RMS) are very rare malignant tumors arising from the mesenchymal tissues of tunica, epididymis or spermatic cord. They present as painless hard masses in inguinoscrotal region, and large tumors can be mistaken for testicular tumors. They can spread to retroperitoneal lymph nodes or hematogenously metastasize to lung, bones and bone marrow. Here, we report a case of Embryonal RMS with spindle cell component presenting with painless scrotal mass and lung metastasis at initial diagnosis.

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