scholarly journals Neurofibromatosis type I and multiple myeloma coexistence: A possible link?

2018 ◽  
Vol 10 (1) ◽  
Author(s):  
Fabrizio Accardi ◽  
Valentina Marchica ◽  
Cristina Mancini ◽  
Elena Maredi ◽  
Costantina Racano ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Gene Mutations ◽  
Neurofibromatosis Type ◽  
Plasma Cell Dyscrasia ◽  
Molecular Testing ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Increased Risk ◽  
Nf1 Gene ◽  
Potential Link

The association between Neurofibromatosis type I (NF1) and multiple myeloma (MM), a plasma cell, dyscrasia is very rare. Here we put to the attention of the scientific community two new cases. The first one is a patient with active MM whereas the second with smoldering MM. Both patients present typical features of NF1 but skeletal alterations were present only in the second case including dysplasia, marked scoliosis and osteoporosis. MM osteolytic lesions were absent in both patients. In addition to the clinical diagnosis of NF1, a molecular testing for NF1 gene mutations has been performed finding that patient one was heterozygous for the c.6855C>A (Tyr2285Ter) mutation, whilepatient two was heterozygous for thec.7838dupC (Lys2614GlufsTer20) mutation. The two mutations were diagnosed both in genomic DNA from peripheral blood and from MM cells. The potential link between NF1 mutation and the increased risk of MM is discussed in the report.

scholarly journals Bilateral and Symmetrical Anteromedial Bowing of the Lower Limbs in a Patient with Neurofibromatosis Type-I

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Ali Al Kaissi ◽  
Klaus Klaushofer ◽  
Franz Grill ◽  
Rudolf Ganger
Keyword(s):  
Early Life ◽  
Neurofibromatosis Type ◽  
Lower Limbs ◽  
Wedge Osteotomy ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Café Au Lait Spots ◽  
Nf1 Gene ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

An 8-year-old girl was referred to our department because of generalized bowing of long bones (radii, ulnae, and femora) and significant bilateral and symmetrical posteromedial bowing of the tibiae and fibulae. The femora were laterally bowed whereas the tibiae and fibulae showed posteromedial bowing between the middle and distal thirds of the tibia with posterior cortical thickening effectively causing the development of bilateral congenital anterolateral bowing of the tibiae and fibulae. We referred to closing-wedge osteotomy of the left tibia along with fibular osteotomy in order to realign the deformity. Due to the delayed appearance of skin stigmata in her early life, the diagnosis of neurofibromatosis was ruled out. At the age of 9 years, café-au-lait spots and axillary freckling were apparent. Genetic tests confirmed von Recklinghausen disease (neurofibromatosis type-I (NF1)) (gene has been localised to 17q22). Interestingly, bilateral and symmetrical anteromedial bowing of the tibiae and fibulae has not been described in patients with NF-I.

scholarly journals Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants

2017 ◽  
Vol 20 (1) ◽  
pp. 13-20 ◽  
Author(s):  
SD Ulusal ◽  
H Gürkan ◽  
E Atlı ◽  
SA Özal ◽  
M Çiftdemir ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Diagnosis ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Next Generation ◽  
Loss Of Function ◽  
Pathogenic Variants ◽  
Nf1 Gene ◽  
Generation Sequencing

Abstract Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center. The MLPA, semiconductor sequencing and Sanger sequencing were performed in genomic DNA samples from 24 unrelated patients and their affected family members referred to our center suspected of having NF1. In total, three novel and 12 known pathogenic variants and a whole gene deletion were determined. We suggest that next generation sequencing is a practical tool for genetic analysis of NF1. Deletion/duplication analysis with MLPA may also be helpful for patients clinically diagnosed to carry NF1 but do not have a detectable mutation in NGS.

scholarly journals Glioblastoma in the Cerebellopontine Angle in a Patient with Neurofibromatosis Type I: A Case Report and Review of the Literature

2019 ◽  
Vol 2 (02) ◽  
pp. 72-75
Author(s):  
Mohammad Kareem Shukairy ◽  
Andrea M. Ziegler ◽  
Douglas E. Anderson ◽  
John P. Leonetti
Keyword(s):  
Case Report ◽  
Cerebellopontine Angle ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Increased Risk ◽  
Facial Numbness ◽  
History Of ◽  
Pain Patients

Abstract Introduction Glioblastoma multiforme (GBM) is the most common primary brain malignancy in adults and is typically in the supratentorial cerebral hemispheres. It has been reported to occur in the posterior fossa at the cerebellopontine angle (CPA), but the incidence is extremely rare. Case Report We report a case of a patient with a history of neurofibromatosis type I (NFI) diagnosed with a GBM arising in the CPA after presenting with facial numbness and pain. Patients with NFI are known to have an increased risk of developing both benign and malignant tumors, including a propensity for brainstem gliomas. However, there is no known association between NFI and tumors of the CPA. We believe this is the first reported case of a GBM of the CPA in a patient with NFI. Conclusion Although rare, GBM should be included in the differential diagnosis of a patient with a CPA tumor, especially in patients with increased risk of malignant pathology.

Gastrointestinal stromal tumor associated with neurofibromatosis type I.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 10539-10539
Author(s):  
Toshirou Nishida ◽  
Tsuyoshi Takahashi ◽  
Mari Kaneda ◽  
Maiko Ako ◽  
Takeshi Omori ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
Short Term ◽  
Distinctive Features ◽  
Increased Risk ◽  
Nf1 Gene ◽  
Normal Intestine ◽  
Single Lesion

10539 Background: Most gastrointestinal stromal tumors (GIST) have either KIT or PDGFRA mutations. Neurofibromatosis type 1 pts caused by mutations in the NF1 gene have increased risk of GIST development, which may have no mutation in both genes. In this study, we analyzed clinical and pathological features of NF-1 associated GISTs. Methods: Study 1: We have screened 95 adults NF1 pts (age 31-66, 35 male and 60 female) by enhanced MDCT between 2003 and 2012. Study 2: We collected 1,184 sporadic GISTs from community hospitals in Japan between 2001 and 2010 retrospectively, and found 24 primary NF1-GISTs (1.7% of sporadic) and 2 recurrent NF1-GISTs, of whom clinicopathological features were analyzed. Results: Study1: By MDCT screening, we have found histologically confirmed 6 GISTs (4 males and 2 female; 6/1,000 NF1-persons/year) in the small intestine. Median age of NF1-GIST was 45, and five pts had multiple tumors, ICC hyperplasia in the normal intestine and no mutation in the KIT and PDGFRA genes. Study 2: Median age of 26 NF1-GIST (12 male and 14 female) was 58. 25 GISTs were located in the small bowel and one in the stomach. 17 pts had multiple GISTs and 9 pts single lesion. Pathologically, KIT was positive for all NF1-GISTs. 24 pts had spindle cell tumors and 2 had mixed or epithelioid. No mutation was found in the KIT and PDGFRA genes of 11 pts examined. Median values of mitosis (0/50HPF) and Ki67 (0.5%) were lower than those of sporadic GIST (3/50HPF and 2.5%). With media follow-up of 3.6 years, 8 pts had recurrences and 4 pts died of the disease. By western blotting, KIT was faintly phosphorylated but its downstream kinases including MEK, p44/22, AKT, mTOR, p38 and STAT3, were activated. Six pts received imatinib and had no response and, subsequently, 5 pts received sunitinib with 4 PD and 1 short-term SD. Conclusions: NF1-associated GIST is a rare entity of GIST and has distinctive features from conventional sporadic GISTs. KIT-targeted TKI appeared to be ineffective to recurrent and advanced NF1-GISTs.

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE

2014 ◽  
Vol 30 (7) ◽  
pp. 1183-1189 ◽  
Author(s):  
Salma Ben-Salem ◽  
Aisha M. Al-Shamsi ◽  
Bassam R. Ali ◽  
Lihadh Al-Gazali
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Mutational Spectrum ◽  
Nf1 Gene

scholarly journals Neurofibromatosis Type I and Stromal Tumor with a Multiple Digestive Localization

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Amina Chaka ◽  
Farouk Ennaceur ◽  
Mohamed Amine Tormen ◽  
Ibtissem Korbi ◽  
Faouzi Noomen ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Stromal Tumor ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Multisystem Disorder ◽  
Cell Tissue ◽  
Increased Risk ◽  
Recklinghausen Disease ◽  
Made In

Neurofibromatosis type I (NF1) is also known as von Recklinghausen disease. It is a genetic disorder that affects the growth and development of nerve cell tissue, which is characterized by a multisystem disorder and an increased risk for cancer. The incidence of gastroduodenal stromal tumor during Recklinghausen disease can reach 35% in autopsies and 5% in clinical cases. In our case, the diagnosis of neurofibromatosis type I was made in a middle-aged women initially diagnosed with a pancreaticoduodenal tumor.

Neurofibromatosis type I and smoldering multiple myeloma: A case report

Hematology ◽  
2006 ◽  
Vol 11 (1) ◽  
pp. 45-48
Author(s):  
Vassiliki Danilatou ◽  
Demetra Liapi ◽  
Maria Psyllaki ◽  
Aria Chatzivasili ◽  
Irini Chronaki ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Case Report ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Smoldering Multiple Myeloma

scholarly journals Identifying the link between multiple myeloma and neurofibromatosis type I

2020 ◽  
Vol 55 (3) ◽  
pp. 187-189
Author(s):  
Angela Rago ◽  
Attilio Tordi ◽  
Agostina Siniscalchi ◽  
Cristina Andrizzi ◽  
Selenia Campagna ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I

scholarly journals Exonic Deletions in the NF1 Gene in Patients with Neurofibromatosis Type I from the Lower Silesian Region of Poland

2014 ◽  
Vol 23 (4) ◽  
pp. 517-521 ◽  
Author(s):  
Izabela Łaczmańska ◽  
Małgorzata Szczepaniak ◽  
Aleksandra Jakubiak ◽  
Agnieszka Stembalska
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Nf1 Gene
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