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The case passed the patient, a male, 2 years old
.
History of present illness: The child developed a facial mass in early December 2019.
On December 17, 2019, the outside hospital underwent a “facial mass biopsy” under general anesthesia.
Postoperative outside hospital pathology: Consider low-grade mesenchymal tumors
.
From January to April 2020, the “CTX+THP+VCR/IFO+VP-16” regimen was performed alternately for 4 cycles of chemotherapy in an outside hospital, and the efficacy was evaluated for PD; July 11, 2020, and August 1, 2020, changed to “CTX+ The "Meso+VCR" regimen had 2 courses of chemotherapy, the tumor did not shrink, and the curative effect was SD
.
Auxiliary examination: 2020-7-6 our hospital pathology consultation results: 2020-7-15 NGS results: 2020-8-27 our hospital maxillofacial MR plain scan + enhanced results: 2020-8-27 our hospital neck + chest + Upper abdomen + lower abdomen + pelvic CT scan + enhancement: There are multiple lymph nodes in the right neck area II and III, which tend to be reactive hyperplasia
.
The chest, abdomen and pelvis were not abnormal
.
Combined with the results of pathology, immunohistochemistry, and NGS, the diagnosis was: NTRK rearranged mesenchymal tumor T4N0M0, IRSG stage III
.
The outcome 2020-9-1 was included in the "Phase I/II study of oral TRK inhibitor LOXO-101 in children with advanced solid tumors or primary central nervous system tumors" led by the Sun Yat-sen University Cancer Center.
It can be seen that the tumor shrinks rapidly, and the patient is now taking the 8th cycle, and the effect is PR
.
Patient appearance tumor changes: Case analysis Soft tissue sarcoma is a group of malignant tumors originating from connective tissues such as mucus, fiber, fat, smooth muscle, synovium, striated muscle, mesothelial, blood vessels and lymphatic vessels, including nerve tissue originating from neuroectoderm Tumors, excluding bone, cartilage and lymphoid hematopoietic tissue
.
The incidence of soft tissue sarcoma is about 1.
28/100,000 to 1.
72/100,000, and it is common in children, accounting for about 6.
5% of all malignant tumors in children <15 years old
.
It mainly includes Ewing's sarcoma, rhabdomyosarcoma and non-rhabdomyosarcoma.
Among children and adolescents, rhabdomyosarcoma is the most common soft tissue tumor in children, accounting for more than 50%
.
There are many types of soft tissue sarcomas, strong heterogeneity, and complex biological characteristics
.
With the advancement of molecular biology, modern medicine has started to treat tumors according to their pathological types, and gradually moves toward an era of tumors based on their molecular types
.
Larotrectinib (Vitrakvi, LOXO-101) is the first-generation NTRK inhibitor, with an effective rate of over 75% and a long-lasting response.
75% of patients who have responded to treatment have a treatment response that lasts for more than 12 months
.
The biggest attraction of the drug is that it is a new anti-cancer drug that targets specific gene mutations, but not specific cancer types.
Larotinib has opened a new era of "different diseases with the same treatment"
.
On November 26, 2018, the U.
S.
Food and Drug Administration (FDA) quickly approved larotinib for solid tumors accompanied by NTRK fusion or translocation
.
The first drug mentioned in the first edition of the updated US NCCN Soft Tissue Sarcoma Guidelines is larotinib
.
NTRK fusion gene has a low incidence in common tumors, but in rare tumors, especially infantile fibrosarcoma, the incidence of fusion genes is as high as 90%
.
Therefore, the fourth edition of the NCCN guidelines in 2019 directly included another NTRK inhibitor, entretinib, into tumor treatment options with NTRK gene fusion, and the recommended level of evidence is 2A
.
The recommended dose of larotinib is 100mg/m2, taken orally twice a day
.
The current price of larotinib in the United States: The purchase price of larotinib in 100mg oral capsules is US$36,213.
91 per month, and US$434,566.
92 (about 2.
8 million yuan) per year.
This price is a "sky price" for patients
.
Some pediatric patients’ oral liquid preparations cost $11,000 per month
.
Since this "anti-cancer drug" has not yet been marketed in China, for cancer patients desperate, in addition to buying drugs abroad, clinical trials are also a good choice
.
The child is unfortunate, but also fortunate.
NTRK fusion was detected without obvious benefit to chemotherapy, and he had the opportunity to enter clinical studies and obtain very good results
.
In conclusion, in the era of precision diagnosis and treatment, NGS detection can help patients make a clear diagnosis or even correct diagnosis when necessary, and it is possible to match targeted drugs or even enter clinical research, so as to obtain new hope and truly bring precision medicine into reality
.
Previous Recommendations ●Tongxin Association Case No.
6 | Stage I Wilms tumor reduces the intensity of treatment-successful case sharing ● Tongxin Association Case No.
5 | Multidisciplinary cooperation to help high-risk mothers long-term survival-high-risk neuroblastoma long-term Survival case sharing ● Go straight to the target, turn the danger into safety-Inflammatory myofibroblastoma case sharing | Tongxin Association Case ● Tongxin Association Case Sharing | Multidisciplinary Comprehensive Treatment to Cure Hepatoblastoma Lung Metastasis Children with Advanced Stage ● "Tong" Heart Association Case | Declare war on sarcoma! HER2 CAR T cell treatment of HER2-positive children with metastatic rhabdomyosarcoma is expected to be effective ●Professor Zhang Yizhuo commented | Nature Medicine published a major article: Whole genome, transcriptome and methylated genome analysis improves the target discovery of high-risk childhood tumors [Tong Xin Association Example: Column Introduction There is a certain gap between the prognosis of children's tumors in China and developed countries.
The fundamental reason is that China's regional development is not balanced and the average standardized diagnosis and treatment level is insufficient
.
In order to promote the development of standardized treatment of children's tumors in China, Yimaitong and the Department of Children's Oncology, Sun Yat-sen University Cancer Center, set up a column of "Children's Association Cases", aiming to share standardized diagnosis and treatment cases of children's tumors and help pediatric oncologists in primary hospitals to enrich their diagnosis and treatment experience
.
Sun Yat-sen University Cancer Center is the first cancer hospital in China to set up the specialty of pediatric cancer chemotherapy
.
The Pediatric Oncology Department of the center focuses on chemotherapy and combines with the departments of surgery, radiotherapy and other disciplines to conduct multidisciplinary comprehensive diagnosis and treatment of pediatric oncology patients.
It has strong technical force, rich experience, standardized treatment, and the treatment plan is in line with foreign developed countries
.
He has led the formulation of guidelines for the diagnosis and treatment of CSCO lymphoma and medulloblastoma diagnosis and treatment guidelines
.
.
History of present illness: The child developed a facial mass in early December 2019.
On December 17, 2019, the outside hospital underwent a “facial mass biopsy” under general anesthesia.
Postoperative outside hospital pathology: Consider low-grade mesenchymal tumors
.
From January to April 2020, the “CTX+THP+VCR/IFO+VP-16” regimen was performed alternately for 4 cycles of chemotherapy in an outside hospital, and the efficacy was evaluated for PD; July 11, 2020, and August 1, 2020, changed to “CTX+ The "Meso+VCR" regimen had 2 courses of chemotherapy, the tumor did not shrink, and the curative effect was SD
.
Auxiliary examination: 2020-7-6 our hospital pathology consultation results: 2020-7-15 NGS results: 2020-8-27 our hospital maxillofacial MR plain scan + enhanced results: 2020-8-27 our hospital neck + chest + Upper abdomen + lower abdomen + pelvic CT scan + enhancement: There are multiple lymph nodes in the right neck area II and III, which tend to be reactive hyperplasia
.
The chest, abdomen and pelvis were not abnormal
.
Combined with the results of pathology, immunohistochemistry, and NGS, the diagnosis was: NTRK rearranged mesenchymal tumor T4N0M0, IRSG stage III
.
The outcome 2020-9-1 was included in the "Phase I/II study of oral TRK inhibitor LOXO-101 in children with advanced solid tumors or primary central nervous system tumors" led by the Sun Yat-sen University Cancer Center.
It can be seen that the tumor shrinks rapidly, and the patient is now taking the 8th cycle, and the effect is PR
.
Patient appearance tumor changes: Case analysis Soft tissue sarcoma is a group of malignant tumors originating from connective tissues such as mucus, fiber, fat, smooth muscle, synovium, striated muscle, mesothelial, blood vessels and lymphatic vessels, including nerve tissue originating from neuroectoderm Tumors, excluding bone, cartilage and lymphoid hematopoietic tissue
.
The incidence of soft tissue sarcoma is about 1.
28/100,000 to 1.
72/100,000, and it is common in children, accounting for about 6.
5% of all malignant tumors in children <15 years old
.
It mainly includes Ewing's sarcoma, rhabdomyosarcoma and non-rhabdomyosarcoma.
Among children and adolescents, rhabdomyosarcoma is the most common soft tissue tumor in children, accounting for more than 50%
.
There are many types of soft tissue sarcomas, strong heterogeneity, and complex biological characteristics
.
With the advancement of molecular biology, modern medicine has started to treat tumors according to their pathological types, and gradually moves toward an era of tumors based on their molecular types
.
Larotrectinib (Vitrakvi, LOXO-101) is the first-generation NTRK inhibitor, with an effective rate of over 75% and a long-lasting response.
75% of patients who have responded to treatment have a treatment response that lasts for more than 12 months
.
The biggest attraction of the drug is that it is a new anti-cancer drug that targets specific gene mutations, but not specific cancer types.
Larotinib has opened a new era of "different diseases with the same treatment"
.
On November 26, 2018, the U.
S.
Food and Drug Administration (FDA) quickly approved larotinib for solid tumors accompanied by NTRK fusion or translocation
.
The first drug mentioned in the first edition of the updated US NCCN Soft Tissue Sarcoma Guidelines is larotinib
.
NTRK fusion gene has a low incidence in common tumors, but in rare tumors, especially infantile fibrosarcoma, the incidence of fusion genes is as high as 90%
.
Therefore, the fourth edition of the NCCN guidelines in 2019 directly included another NTRK inhibitor, entretinib, into tumor treatment options with NTRK gene fusion, and the recommended level of evidence is 2A
.
The recommended dose of larotinib is 100mg/m2, taken orally twice a day
.
The current price of larotinib in the United States: The purchase price of larotinib in 100mg oral capsules is US$36,213.
91 per month, and US$434,566.
92 (about 2.
8 million yuan) per year.
This price is a "sky price" for patients
.
Some pediatric patients’ oral liquid preparations cost $11,000 per month
.
Since this "anti-cancer drug" has not yet been marketed in China, for cancer patients desperate, in addition to buying drugs abroad, clinical trials are also a good choice
.
The child is unfortunate, but also fortunate.
NTRK fusion was detected without obvious benefit to chemotherapy, and he had the opportunity to enter clinical studies and obtain very good results
.
In conclusion, in the era of precision diagnosis and treatment, NGS detection can help patients make a clear diagnosis or even correct diagnosis when necessary, and it is possible to match targeted drugs or even enter clinical research, so as to obtain new hope and truly bring precision medicine into reality
.
Previous Recommendations ●Tongxin Association Case No.
6 | Stage I Wilms tumor reduces the intensity of treatment-successful case sharing ● Tongxin Association Case No.
5 | Multidisciplinary cooperation to help high-risk mothers long-term survival-high-risk neuroblastoma long-term Survival case sharing ● Go straight to the target, turn the danger into safety-Inflammatory myofibroblastoma case sharing | Tongxin Association Case ● Tongxin Association Case Sharing | Multidisciplinary Comprehensive Treatment to Cure Hepatoblastoma Lung Metastasis Children with Advanced Stage ● "Tong" Heart Association Case | Declare war on sarcoma! HER2 CAR T cell treatment of HER2-positive children with metastatic rhabdomyosarcoma is expected to be effective ●Professor Zhang Yizhuo commented | Nature Medicine published a major article: Whole genome, transcriptome and methylated genome analysis improves the target discovery of high-risk childhood tumors [Tong Xin Association Example: Column Introduction There is a certain gap between the prognosis of children's tumors in China and developed countries.
The fundamental reason is that China's regional development is not balanced and the average standardized diagnosis and treatment level is insufficient
.
In order to promote the development of standardized treatment of children's tumors in China, Yimaitong and the Department of Children's Oncology, Sun Yat-sen University Cancer Center, set up a column of "Children's Association Cases", aiming to share standardized diagnosis and treatment cases of children's tumors and help pediatric oncologists in primary hospitals to enrich their diagnosis and treatment experience
.
Sun Yat-sen University Cancer Center is the first cancer hospital in China to set up the specialty of pediatric cancer chemotherapy
.
The Pediatric Oncology Department of the center focuses on chemotherapy and combines with the departments of surgery, radiotherapy and other disciplines to conduct multidisciplinary comprehensive diagnosis and treatment of pediatric oncology patients.
It has strong technical force, rich experience, standardized treatment, and the treatment plan is in line with foreign developed countries
.
He has led the formulation of guidelines for the diagnosis and treatment of CSCO lymphoma and medulloblastoma diagnosis and treatment guidelines
.
