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1.
Surg Radiol Anat ; 43(7): 1067-1073, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33661354

RESUMO

PURPOSE: Selective percutaneous tenotomy of the flexor digitorum longus (FDL) is a treatment for claw toes that gives astonishingly good functional results despite tendon sacrifice. However, the involution of the FDL tendon stump after tenotomy is unknown. The aim of our study was to assess the involution of the tendon stump after selective percutaneous tenotomy of the FDL. METHODS: The study included two parts. In the clinical part, an ultrasound analysis of 15 FDL tenotomies in 7 patients was carried out 3 months post-surgery. In the anatomic part, the feet of 10 bodies donated to science were dissected and examined anatomically. RESULTS: The proximal stump of the FDL was located near the base of the proximal phalanx and moved synchronously with the flexor digitorum brevis (FDB).Separating the FDB and FDL revealed a large tissue connection between the plantar surface of the tendinous chiasm of the FDB and the dorsal part of the FDL. These connections had significant resistance ranging from 2 to 9 Newtons depending on the toe. Tenotomy of the FDL followed by proximal traction of it led to retraction of the stump up to the base of the proximal phalanx and transfer of its action to the FDB by tensioning the intertendinous structure. Histologically, these structures were mostly comprised of tendon connective tissue. Their vascular component was small. CONCLUSION: The presence of this intertendinous connection leads, in the case of isolated tenotomy of the FDL, to equivalent transfer of the latter to the FDB.


Assuntos
Síndrome do Dedo do Pé em Martelo/cirurgia , Músculo Esquelético/anatomia & histologia , Transferência Tendinosa/métodos , Tendões/anatomia & histologia , Tenotomia/métodos , Cadáver , Humanos , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/cirurgia , Tendões/diagnóstico por imagem , Tendões/cirurgia , Dedos do Pé/anatomia & histologia , Dedos do Pé/diagnóstico por imagem , Dedos do Pé/cirurgia , Ultrassonografia
2.
Ann Pathol ; 41(4): 387-398, 2021 Jul.
Artigo em Francês | MEDLINE | ID: mdl-33846022

RESUMO

The recent availability of targeted anti-TRK therapies represents a new opportunity to treat patients with advanced cancers harboring NTRK gene fusions. In this article, we present an update on the practical modalities of implementing a "NTRK testing" to search for these fusions in view of the performances and availability of the different testing methods and the epidemiological characteristics of the tumors liable to present the NTRK1, NTRK2 or NTRK3 gene fusions.


Assuntos
Neoplasias , Patologistas , Fusão Gênica , Humanos , Neoplasias/genética , Receptor trkA/genética
3.
Neurochirurgie ; 69(6): 101497, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37757629

RESUMO

Ectopic thyroid is well-known pathology for several decades. Many locations have been described. Nowadays, only three cases of skull base location have been described in literature. In our case, we reported a single case of a 39-year-old male presenting with a supra-sellar and suprachiasmatic location. He presented no clinical symptoms, no endocrine alteration on biology and no skull base invasion which make this case unique compared to actual literature. Such diagnosis should always be an exclusion diagnosis as secondary neoplastic should be first ruled out.


Assuntos
Disgenesia da Tireoide , Masculino , Humanos , Adulto , Disgenesia da Tireoide/diagnóstico , Disgenesia da Tireoide/cirurgia , Crânio
4.
Diagn Pathol ; 16(1): 119, 2021 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-34930348

RESUMO

BACKGROUND: Pseudomyxoma peritonei (PMP) is a complex and partially understood disease defined by mucin deposits in the peritoneal cavity, mostly of appendiceal origin caused by the rupture of a mucocele often containing Low or High grade Appendiceal Mucinous Neoplasm (LAMN/HAMN). Other origins include primitive ovarian mucinous cystadenoma or cystadenocarcinoma almost always with an associated teratoma, but to our knowledge no case of ovarian teratomatous appendiceal-like mucocele with LAMN has been reported as a cause of PMP. CASE PRESENTATION: A 25-year old female with infertility was diagnosed with an isolated left ovarian tumor in a context of PMP. Histological examination revealed an ovarian teratoma containing an appendiceal-like structure with mucocele and LAMN, without any associated lesion of the appendix on full histological analysis. Molecular characterization of the ovarian lesion showed co-KRAS and GNAS mutations, as described in PMP of appendiceal origin, while only KRAS mutations are reported in primitive ovarian mucinous tumor. CONCLUSIONS: Detection of co-KRAS and GNAS mutations in our case of ovarian teratomatous appendiceal-like mucocele with LAMN shows that when PMP derives from a mucinous ovarian lesion (with histological proof of none-appendiceal involvement), it is probably of a digestive teratomatous origin, emphasizing the need to actively search for tetatomatous signs in a context of ovarian PMP.


Assuntos
Neoplasias do Apêndice , Neoplasias Ovarianas , Neoplasias Peritoneais , Pseudomixoma Peritoneal , Teratoma , Adulto , Neoplasias do Apêndice/genética , Neoplasias do Apêndice/patologia , Feminino , Humanos , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/genética , Pseudomixoma Peritoneal/diagnóstico , Teratoma/patologia
5.
Am J Surg Pathol ; 45(11): 1487-1498, 2021 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-33899788

RESUMO

AIMS: Secretory carcinoma (SC) is characterized by ETV6 rearrangements, most often ETV6-NTRK3 fusion. Given its histologic overlap with other salivary gland tumors (SGTs), SCs can be difficult to diagnose without genetic confirmation. A recently developed pan-TRK (tropomyosin receptor kinase) antibody shows promise for identifying tumors with NTRK (neurotrophic tyrosine kinase receptor 3) fusions. The aim of this study was to evaluate the utility of pan-TRK immunohistochemistry in distinguishing SCs from mimics and selecting patients eligible for TRK inhibitor clinical trials. We examined whole-tissue sections from 111 SGTs with molecular characterization, including 26 SCs (23 with ETV6-NTRK3 fusion and 3 with ETV6-RET fusion detected by ligation-dependent reverse transcription-polymerase chain reaction, next-generation sequencing and 85 non-SC SGTs (no ETV6-NTRK3 fusion). Immunohistochemistry was performed with a pan-TRK rabbit monoclonal antibody. When any pan-TRK staining (nuclear or cytoplasmic with any staining intensity) was considered to indicate positivity, 22 of 23 SCs with ETV6-NTRK3 fusion (95.7%) and 33 of 85 non-SC (38.8%) salivary neoplasms were positive, mainly basal cell adenoma, pleomorphic adenomas, adenoid cystic carcinomas, and epithelial-myoepithelial carcinomas. All SCs with ETV6-RET fusion were entirely negative. When only nuclear pan-TRK staining with any staining intensity was considered positive, 18 of 23 SCs with ETV6-NTRK3 fusion (78.3%) were positive, 11 among them with diffuse staining (>30% of cells). All non-SCs and SCs with ETV6-RET fusion were entirely negative. In comparison to molecular analysis (ligation-dependent reverse transcription-polymerase chain reaction, next-generation sequencing), nuclear pan-TRK IHC has a sensitivity of 78.3% and a specificity of 100% for diagnosing SCs with ETV6-NTRK3 fusion, 69% and 100% for SCs (all fusions). Pan-TRK is a reasonable screening test for diagnosing SCs among SGTs when taking only nuclear staining into account. Although pan-TRK expression is not entirely sensitive for SCs, nuclear staining is highly specific for SCs with ETV6-NTRK3 fusion. The lack of pan-TRK immunoreactivity in a subset of SCs is suggestive of atypical exons 4 to 14 or exons 5 to 14 ETV6-NTRK3 fusion or non-NTRK alternative fusion partners such as ETV6-RET. Pan-TRK staining can serve as a strong diagnostic marker to distinguish SC from it mimics and to select patients eligible for TRK inhibitor clinical trials.


Assuntos
Biomarcadores Tumorais/genética , Fusão Gênica , Rearranjo Gênico , Imuno-Histoquímica , Proteínas de Fusão Oncogênica/genética , Receptor trkC/genética , Neoplasias das Glândulas Salivares/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , França , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , Fenótipo , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Neoplasias das Glândulas Salivares/patologia , Adulto Jovem
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